35 results on '"Chaouachi, Dorra"'
Search Results
2. Novel mutations in Uridyl-diphosphate-glucuronosyl-transferase 1A1 (UGT1A1) gene in Tunisian patients with unconjugated hyperbilirubinemia
- Author
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Trabelsi, Nawel, Chaouch, Leila, Haddad, Faten, Jaouani, Mouna, Barkaoui, Emna, Darragi, Imen, Chaouachi, Dorra, Boudrigua, Imen, Menif, Samia, and Abbes, Salem
- Published
- 2021
- Full Text
- View/download PDF
3. PB2558: REFERENCE VALUES FOR METHEMOGLOBIN LEVEL AND NADH-CYTOCHROME B5 REDUCTASE ACTIVITY IN TUNISIAN POPULATION.
- Author
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Bouatrous, Emna, primary, Chaouachi, Dorra, additional, Imen, Boudrigua, additional, Samia, Menif, additional, and Houyem, Ouragini, additional
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- 2023
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4. PB2526: UMBILICAL CORD BLOOD SCREENING FOR SICKLE CELL DISEASE: A PILOT STUDY IN THE NORTH OF TUNISIA
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Ouragini, Houyem, primary, Zitouni, Sana, additional, Chaouachi, Dorra, additional, Ayachi, Amira, additional, Mourali, Machaal, additional, and Menif, Samia, additional
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- 2023
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5. New Deletion at Promoter of HBG1 Gene in Sickle Cell Disease Patients With High HbF Level
- Author
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Chaouch, Leila, Sellami, Houssem, Kalai, Miniar, Darragi, Imen, Boudrigua, Imen, Chaouachi, Dorra, Abbes, Salem, and Mnif, Samia
- Published
- 2020
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- View/download PDF
6. Association of rs1319868, rs1567811 and rs8041224 of IGF1R gene with infection among sickle cell anemia Tunisian patients
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Ben Sassi, Mouna, Chaouch, Leila, Kalai, Miniar, Moumni, Imen, Ouragini, Houyem, Darragi, Imen, Chaouachi, Dorra, Boudrigua, Imen, Hafsia, Raouf, and Abbes, Salem
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- 2016
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- View/download PDF
7. Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family
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Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, and Abbes Salem
- Subjects
Pyruvate Kinase deficiency ,Phenotypic and molecular investigation ,Hemolytic anemia ,Hydrops fetalis ,PKLR mutation ,Medicine (General) ,R5-920 ,Genetics ,QH426-470 - Abstract
Pyruvate Kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The disease has been studied in several ethnic groups. However, it is yet an unknown pathology in Tunisia. We report here, the phenotypic and molecular investigation of PK deficiency in a Tunisian family. This study was carried out on two Tunisian brothers and members of their family. Hematological, biochemical analysis and erythrocyte PK activity were performed. The molecular characterization was carried out by gene sequencing technique. The first patient died few hours after birth by hydrops fetalis, the second one presented with neonatal jaundice and severe anemia necessitating urgent blood transfusion. This severe clinical picture is the result of a homozygous mutation of PKLR gene at exon 8 (c.1079G>A; p.Cys360Tyr). Certainly, this research allowed us to correlate the clinical phenotype severity with the identified mutation. Moreover, this will help in understanding the etiology of unknown anemia in our country.
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- 2016
- Full Text
- View/download PDF
8. Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)0-Thalassemia among Tunisian family
- Author
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Kalai, Miniar, primary, Moumni, Imen, additional, Ouragini, Houyem, additional, Ben Fraj, Ilhem, additional, Mellouli, Fethi, additional, Ouederni, Monia, additional, Chaouachi, Dorra, additional, Boudriga, Imen, additional, and Menif, Samia, additional
- Published
- 2022
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- View/download PDF
9. Fetal Hemoglobin in Tunisian Sickle Cell Disease Patient: Relationship with Polymorphic Sequences Cis to the β-Globin Gene
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Moumni, Imen, Ben Mustapha, Maha, Ben Mansour, Ikbel, Zoraï, Amine, Douzi, Kaïs, Sassi, Sarah, Chaouachi, Dorra, Mellouli, Fethi, Bejaoui, Mohamed, and Abbes, Salem
- Published
- 2016
- Full Text
- View/download PDF
10. Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ) 0 -Thalassemia among Tunisian family.
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Kalai, Miniar, Moumni, Imen, Ouragini, Houyem, Ben Fraj, Ilhem, Mellouli, Fethi, Ouederni, Monia, Chaouachi, Dorra, Boudriga, Imen, and Menif, Samia
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FETAL hemoglobin ,DELETION mutation ,TUNISIANS ,CAPILLARY electrophoresis ,MOLE fraction ,DATABASES - Abstract
Background: Deletions in the β-globin cluster are uncommon and cause thalassemia (thal) with hereditary persistence of fetal hemoglobin. They constitute a heterogenous group of disorders characterized by absent or reduced synthesis of adult hemoglobin (Hb A) and increased synthesis of fetal hemoglobin (Hb F). Although the clinical severity of these disorders are asymptomatic owing to the increased Hb F levels, the molecular basis is very heterogenous due to the large deletions in the β-globin cluster spanning both HBD and HBB genes. Here, we describe a Tunisian family carrying a novel deletion mutation causing (δβ)°-thalassemia. Methods: The amounts of hemoglobin fractions were measured by capillary electrophoresis of hemoglobin. Amplification and sequencing of different regions on the β-gene cluster were performed by Sanger method. Results: Family study and genetic analysis revealed a large deletion mutation in the β-globin cluster of 14.5 kb (NG_000,007.3:g. 58,253 to g.72837del14584) at the homozygous state in the patient and at heterozygous state at the other members of the family. This deletion removes the HBD and HBB genes. Conclusions: In our knowledge, this new large deletion is described for the first time in the Tunisian population and in the world, designed Tunisian(δβ)
0 in Ithanet database (IthaID: 3971). Therefore, it is important to identify the deletion leading to δβ-thalassemia carriers at the molecular level, to highlight the importance of recognizing the clinical features and implementing appropriate testing to clarify the diagnosis and manage the condition. [ABSTRACT FROM AUTHOR]- Published
- 2023
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11. Tunisian Newborn's Cord Blood: Reference Values of Complete Blood Count and Hemoglobin Fractions.
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Zitouni, Sana, Bouatrous, Emna, Laabidi, Ons, Boudrigua, Imen, Chaouachi, Dorra, Saidani, Naima, Kraiem, Imen, Ayachi, Amira, Abbes, Salem, Mourali, Mechaal, Menif, Samia, and Ouragini, Houyem
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REFERENCE values ,HEMOGLOBINS ,AUTOANALYZERS ,ELECTROPHORESIS ,LEUCOCYTES ,BLOOD collection ,GESTATIONAL age ,POPULATION geography ,CORD blood ,VAGINA ,DESCRIPTIVE statistics ,BLOOD cell count ,POPULATION health ,DELIVERY (Obstetrics) ,DATA analysis software ,ERYTHROCYTES - Abstract
Objective This study was aimed to establish local reference values for hematological indices and hemoglobin (Hb) fractions in umbilical cord blood (UCB) for the northern population of Tunisia. Study Design Our study included full-term newborns by vaginal deliveries. Hematological parameters were collected using an automated blood cell counter. The amounts of Hb fractions were measured by capillary electrophoresis of Hb. Statistical analysis was performed using R software. Results A total of 328 cord blood samples were analyzed. Among them, 154 (male: 44.8%, female: 55.2%) were used to establish reference values. The normal reference values of complete blood count (CBC) and Hb fractions were calculated. Mean neonatal Hb was 14.75 ± 2.26 g/dL. Gestational age affects the expression of CBC values as red blood cell (RBC), Hb, hematocrit (Hct), mean corpuscular volume (MCV), white blood cell (WBC), and the Hb profile. Umbilical blood hemogram parameters and Hb profile are affected by the environment; higher in newborns from urban regions but not affected by gender ratio. Conclusion Reference ranges of normal CBC indices and Hb fractions have been successfully established in Tunisian neonates' UCB. Our data suggest reference values that could be useful for neonatal patients' laboratory results and clinical interpretation. Key Points Reference values for CBC and hemoglobin fractions have been established. Hematological reference for UCB is useful to identify hemolytic anemia cases early. UCB hematological values are influenced by gestational age and probably by environmental factors. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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12. Tunisian Newborn's Cord Blood: Reference Values of Complete Blood Count and Hemoglobin Fractions
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Zitouni, Sana, additional, Bouatrous, Emna, additional, Laabidi, Ons, additional, Boudrigua, Imen, additional, Chaouachi, Dorra, additional, Saidani, Naima, additional, Kraiem, Imen, additional, Ayachi, Amira, additional, Abbes, Salem, additional, Mourali, Mechaal, additional, Menif, Samia, additional, and Ouragini, Houyem, additional
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- 2020
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13. Enhanced Eryptosis in Glucose-6-Phosphate Dehydrogenase Deficiency.
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Bouguerra, Ghada, Talbi, Khaoula, Trabelsi, Nawel, Chaouachi, Dorra, Boudriga, Imen, Abbès, Salem, and Menif, Samia
- Abstract
Background/Aims: Defects in the Glucose-6-Phosphate Dehydrogenase (G6PD) enzyme enhance cellular oxidative damage, thus impairing erythrocytes and radically shortening their lifespan. We aimed to study programmed erythrocyte cell death in G6PD-deficient patients, describe the molecular genetics basis of G6PD and investigate phenotype-genotype correlations. Methods: We explored eryptosis using the annexin V-binding assay, taken as an indicator of PS exposure at the erythrocyte surface. We assessed reactive oxygen species (ROS) production, intracellular calcium concentrations and ceramide formation at the cell surface. Prior to and following treatments, cells were analyzed by flow cytometry. Finally, we explored G6PD gene mutations through PCR-Sanger sequencing. Results: Before stimulation, PS-exposing erythrocytes were significantly higher in G6PD-deficient patients than in healthy volunteers. This was paralleled by a significant increase in reactive oxygen species production, suggesting that oxidative stress is the main trigger of PS exposure in G6PD-deficient erythrocytes. Five previously described mutations were detected in our patients. Two genotypes correlated with a significantly higher percentage of PS-exposing cells. Conclusion: Our study uncovers a novel effect detected in G6PD-deficient erythrocytes which is cell membrane scrambling with PS translocation to the erythrocyte surface. Our findings shed a light on the mechanisms of premature erythrocyte clearance in G6PD deficiency. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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14. New Deletion at Promoter of HBG1 Gene in Sickle Cell Disease Patients With High HbF Level
- Author
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Chaouch, Leila, primary, Sellami, Houssem, additional, Kalai, Miniar, additional, Darragi, Imen, additional, Boudrigua, Imen, additional, Chaouachi, Dorra, additional, Abbes, Salem, additional, and Mnif, Samia, additional
- Published
- 2019
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15. Two new β+-thalassemia mutation [β -56 (G → C); HBBc. −106 G → C] and [β −83 (G → A); HBBc. −133 G → A] described among the Tunisian population
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Abbes Salem, Maha Ben Mustapha, Imen Moumni, Chaouachi Dorra, Amine Zorai, Ikbel Ben Mansour, and Kais Douzi
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Genetics ,Mutation ,Thalassemia ,Haplotype ,Promoter ,Biology ,medicine.disease_cause ,medicine.disease ,Genetic linkage ,Anthropology ,Gene cluster ,medicine ,Anatomy ,Restriction fragment length polymorphism ,Gene ,Ecology, Evolution, Behavior and Systematics - Abstract
Objectives Different thalassemia mutations have been reported in various ethnic groups and geographical regions in Tunisia. In the present study, we have investigated two rare β+-thalassemia mutations, that have not previously been reported in the Tunisian population [β −56 (G > C); HBBc. −106 G > C] and [β −83 (G > A); HBBc. −133 G > A]. Methods The whole β-globin gene was directly sequenced, and haplotype analysis was conducted through a PCR/RFLP method. Results: Two new mutations were identified for the first time in Tunisia. They are located within the promoter region of β-globin gene at position −56 (G > C) and −83 (G > A). Linkage analysis using β-globin gene cluster haplotypes showed that these two mutations were associated with Mediterranean β-haplotype IX [− + − + + + +] and framework 2 (FW2) [CCTCT]. Conclusions The two newly described mutations lead to the β+-thalassemia among Tunisian patients. The haplotype analysis and framework assignment have helped to identify the chromosomal background associated with these mutations, and determine their origin and spread. Am. J. Hum. Biol. 27:716–719, 2015. © 2015 Wiley Periodicals, Inc.
- Published
- 2015
16. Biochemical, Cellular, and Proteomic Characterization of Hereditary Spherocytosis Among Tunisians.
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Trabelsi, Nawel, Bouguerra, Ghada, Haddad, Faten, Ouederni, Monia, Darragi, Imen, Boudrigua, Imen, Chaouachi, Dorra, Barmat, Mbarka, Fouzai, Chaker, Bejaoui, Mohamed, Menif, Samia, Kraiem, Imen, and Abbes, Salem
- Subjects
HEREDITARY spherocytosis ,BAND 3 protein ,MEMBRANE proteins ,ELECTROPHORESIS ,ERYTHROCYTES - Abstract
Background/Aims: Hereditary Spherocytosis (HS) is the most common erythrocyte membrane disorder causing hemolytic anemia. The wide heterogeneity of both clinical and laboratory manifestations of HS contributes to difficulties associated with the diagnosis of this disorder. Although massive data previously reported worldwide, there is yet no data on HS among the Tunisian population. Here we aim to characterize HS in Tunisian patients at biochemical and cellular levels, identify the membrane protein deficiency, and compare the accuracy of the diagnostic tests to identify the most appropriate assay for HS diagnosis. Methods: We investigated 81 patients with hemolytic anemia and 167 normal controls. The exploration of HS based on clinical and family history, physical examination, and the results of laboratory tests: blood smear, osmotic fragility test (OFT), cryohemolysis test (CT), pink test (PT), eosine5’-maleimide (EMA) test, and erythrocyte membrane protein electrophoresis. Results: We identified 21 patients with HS, classified as severe (6/21;28.5%), moderate (10/21;47.6%), and mild (5/21;23.8%). The most prevalent protein deficiency was the band 3 protein detected in ten Tunisian HS patients. The EMA test showed a high specificity (97.5%) and sensitivity (94.7%) for HS diagnosis compared to the other screening tests. Interestingly, fourteen among sixteen patients presenting with homozygous sickle cells HbSS showed an increase of EMA fluorescence intensity compared to other anemic patients. Conclusion: Our study highlights the efficiency of the EMA dye for the detection of HS whatever the nature of the involved protein deficiency. We report for the first time, the most prevalent protein deficiency among Tunisians with HS. Moreover, we found that the combination of the EMA-binding test with PT or incubated OFT improves the diagnosis sensitivity while maintaining a good specificity. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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17. Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family
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Kalai Miniar, Bejaoui Mohamed, Chaouachi Dorra, Abbes Salem, Chaouch Leila, Boudriga Imen, Mellouli Fethi, Hamdi Nadia, Jaouani Mouna, and Darragi Imen
- Subjects
Hemolytic anemia ,lcsh:QH426-470 ,Anemia ,Biology ,medicine.disease_cause ,03 medical and health sciences ,Exon ,0302 clinical medicine ,Phenotypic and molecular investigation ,Hydrops fetalis ,medicine ,Pyruvate Kinase deficiency ,Genetics(clinical) ,Genetics (clinical) ,Genetics ,lcsh:R5-920 ,Mutation ,Jaundice ,medicine.disease ,lcsh:Genetics ,PKLR mutation ,030220 oncology & carcinogenesis ,Immunology ,medicine.symptom ,lcsh:Medicine (General) ,Pyruvate kinase ,030215 immunology ,Pyruvate kinase deficiency - Abstract
Pyruvate Kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The disease has been studied in several ethnic groups. However, it is yet an unknown pathology in Tunisia. We report here, the phenotypic and molecular investigation of PK deficiency in a Tunisian family. This study was carried out on two Tunisian brothers and members of their family. Hematological, biochemical analysis and erythrocyte PK activity were performed. The molecular characterization was carried out by gene sequencing technique. The first patient died few hours after birth by hydrops fetalis, the second one presented with neonatal jaundice and severe anemia necessitating urgent blood transfusion. This severe clinical picture is the result of a homozygous mutation of PKLR gene at exon 8 (c.1079G>A; p.Cys360Tyr). Certainly, this research allowed us to correlate the clinical phenotype severity with the identified mutation. Moreover, this will help in understanding the etiology of unknown anemia in our country. Keywords : Pyruvate Kinase deficiency; Phenotypic and molecular investigation; Hemolytic anemia; Hydrops fetalis; PKLR mutation
- Published
- 2016
18. Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)
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Jerry W. Shay, Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa, Maryam Goudarzi, Albert J. Fornace, Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri, Heba Alkhatabi, Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp, Adel M. Abuzenadah, Jim Vaught, Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida, Leena Merdad, Sudhir Kumar, Sayaka Miura, Karen Gomez, Mahmood Rasool, Ahmed Rebai, Sajjad Karim, Hend F. Nour Eldin, Heba Abusamra, Elham M. Alhathli, Nada Salem, Mohammed H. Al-Qahtani, Hossam Faheem, Ashok Agarwa, Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Serdar Coskun, Muhammad Abu-Elmagd, Ashraf Dallol, Sahar Hakamy, Wejdan Al-Qahtani, Asia Al-Harbi, Shireen Hussain, Burak Ozkosem, Rick DuBois, Safia S. Messaoudi, Maryam T. Dandana, Touhami Mahjoub, Wassim Y. Almawi, S. Abdalla, M. Nabil Al-Aama, Asmaa Elzawahry, Tsuyoshi Takahashi, Sachiyo Mimaki, Eisaku Furukawa, Rie Nakatsuka, Isao Kurosaka, Takahiko Nishigaki, Hiromi Nakamura, Satoshi Serada, Tetsuji Naka, Seiichi Hirota, Tatsuhiro Shibata, Katsuya Tsuchihara, Toshirou Nishida, Mamoru Kato, Sajid Mehmood, Naeem Mahmood Ashraf, Awais Asif, Muhammad Bilal, Malik Siddique Mehmood, Aadil Hussain, Qazi Mohammad Sajid Jamal, Mughees Uddin Siddiqui, Mohammad A. Alzohairy, Mohammad A. Al Karaawi, Taoufik Nedjadi, Heba Al-Khattabi, Adel Al-Ammari, Ahmed Al-Sayyad, Hédia Zitouni, Nozha Raguema, Marwa Ben Ali, Wided Malah, Raja Lfalah, Wassim Almawi, Mohammed Elanbari, Andrey Ptitsyn, Sana Mahjoub, Rabeb El Ghali, Bechir Achour, Nidhal Ben Amor, Brahim N’siri, Hamid Morjani, Esam Azhar, Vera Chayeb, Maryam Dendena, Hedia Zitouni, Khedija Zouari-Limayem, Bassem Refaat, Ahmed M. Ashshi, Sarah A. Batwa, Hazem Ramadan, Amal Awad, Ahmed Ateya, Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok Yun, Adel Galal El-Shemi, Osama Kensara, Amr Abdelfattah, Batol Imran Dheeb, Mohammed M. F. Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman, Djouhri Laiche, Chaudhary Adeel, Nedjadi Taoufik, Hani Al-Afghani, Maria Łastowska, Haya H. Al-Balool, Harsh Sheth, Emma Mercer, Jonathan M. Coxhead, Chris P. F. Redfern, Heiko Peters, Alastair D. Burt, Mauro Santibanez-Koref, Chris M. Bacon, Louis Chesler, Alistair G. Rust, David J. Adams, Daniel Williamson, Steven C. Clifford, Michael S. Jackson, Mala Singh, Mohmmad Shoab Mansuri, Shahnawaz D. Jadeja, Hima Patel, Yogesh S. Marfatia, Rasheedunnisa Begum, Amal M. Mohamed, Alaa K. Kamel, Nivin A. Helmy, Sayda A. Hammad, Hesham F. Kayed, Marwa I. Shehab, Assad El Gerzawy, Maha M. Ead, Ola M. Ead, Mona Mekkawy, Innas Mazen, Mona El-Ruby, S. M. A. Shahid, J. M. Arif, Mohtashim Lohani, Moumni Imen, Chaouch Leila, Ouragini Houyem, Douzi Kais, Chaouachi Dorra Mellouli Fethi, Bejaoui Mohamed, Abbes Salem, Areeg Faggad, Amanuel T. Gebreslasie, Hani Y. Zaki, Badreldin E. Abdalla, Maha S. AlShammari, Rhaya Al-Ali, Nader Al-Balawi, Mansour Al-Enazi, Ali Al-Muraikhi, Fadi Busaleh, Ali Al-Sahwan, Francis Borgio, Abdulazeez Sayyed, Amein Al-Ali, Sadananda Acharya, Maha S. Zaki, Hala T. El-Bassyouni, Mohammed F. Elshal, Kaleemuddin M., Alia M. Aldahlawi, Omar Saadah, J. Philip McCoy, Adel E. El-Tarras, Nabil S. Awad, Abdulla A. Alharthi, Mohamed M. M. Ibrahim, Haneen S. Alsehli, Abdullah M. Gari, Mohammed M. Abbas, Roaa A. Kadam, Mazen M. Gari, Mohmmed H. Alkaff, Mamdooh A. Gari, Hend F. Nour eldin, Fatima A. Moradi, Omran M. Rashidi, Zuhier A. Awan, Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak, Nabila A. Alkousi, Takis Athanasopoulos, Afnan O. Bahmaid, Etimad A. Alhwait, Mohammed H. Alkaf, Roaa Kadam, Gauthaman Kalamegam, Elham Alhathli, Salma N. Alsayed, Fawziah H. Aljohani, Samaher M. Habeeb, Rawan A. Almashali, Sulman Basit, Samia M. Ahmed, Rakesh Sharma, Ashok Agarwal, Damayanthi Durairajanayagam, Luna Samanta, Edmund S. Sabanegh, Zhihong Cui, Alaa A. Alboogmi, Nuha A. Alansari, Maha M. Al-Quaiti, Fai T. Ashgan, Afnan Bandah, Hasan S. Jamal, Abdullraheem Rozi, Zeenat Mirza, Ahmad J. Al Sayyad, Hasan M. A. Farsi, Jaudah A. Al-Maghrabi, Reem Alotibi, Alaa Al-Ahmadi, Alaa A. Albogmi, Rasha A. Ebiya, Samia M. Darwish, Metwally M. Montaser, Vladimir B. Bajic, Wafaey Gomaa, Mehenaz Hanbazazh, Mahmoud Al-Ahwal, Saher Hakamy, Ghali Baba, Abdullah Al-Harbi, Ghalia Baba, Hend Nour Eldin, Aisha A. Alyamani, Rawan Gadi, Saadiah M. Alfakeeh, Rubi Ghazala, Shilu Mathew, M. Haroon Hamed, Ishtiaq Qadri, Lobna Mira, Manal Shaabad, Mikhlid H. Almutairi, Angie Ambers, Jennifer Churchill, Jonathan King, Monika Stoljarova, Harrell Gill-King, Muhammad Al-Qatani, Farid Ahmed, Taha Abo Almagd, Muhammad Al-Qahtani, Abdelbaset Buhmaida, Rukhsana Satar, Waseem Ahmad, Nazia Nazam, Mohamad I. Lone, Muhammad I. Naseer, Mohammad S. Jamal, Syed K. Zaidi, Peter N. Pushparaj, Mohammad A. Jafri, Shakeel A. Ansari, Mohammed H. Alqahtani, Hanan Bashier, Abrar Al Qahtani, Amal M. Nour, Adel M. Abu Zenadah, Muhammed Al Qahtani, Muhammad Faheem, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani, Hani A. Alhadrami, Ibtessam R. Hussein, Rima S. Bader, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans Schulten, Mohamed Nabil Alama, Mohammad H. Al Qahtani, Mohammad I. Lone, Nazia Nizam, Muhammed H. Al-Qahtani, Eradah Alshihri, Lina Alharbi, Peter Pushparaj Natesan, Fazal Khan, Khalid Hussain Wali Sait, Nisreen Anfinan, Lobna S. Mira, Mohammed H. AlQahtani, Sameera Sogaty, Randa I. Bassiouni, Abdulrahman M. S. Sibiani, Mohiuddin K. Warsi, null Rubi, Kundan Kumar, Ahmad A. T. Naqvi, Faizan Ahmad, Md I. Hassan, Ashraf Ali, Jummanah Jarullah, Abdelbasit Buhmeida, Shahida Khan, Ghufrana Abdussami, Maryam Mahfooz, Mohammad A. Kamal, Ghazi A. Damanhouri, Bushra Jarullah, Mohammad S. S. Jarullah, Osama Bajouh, Abdulah E. A. Mathkoor, Hashim M. A. Alsalmi, Anas M. M. Oun, Ghazi A. Damanhauri, Adeel G. Chudhary, Yousif A. Abutalib, Daniele Merico, Susan Walker, Christian R. Marshall, Mehdi Zarrei, Stephen W. Scherer, Fai Talal Ashgan, Syed Kashif Zaidi, Mohammed M. Jan, Maryam Al-Zahrani, Sahira Lary, Emmanuel Dermitzakis, Abeer A. Al-refai, Mona Saleh, Rehab I. Yassien, Mahmmoud Kamel, Rabab M. Habeb, Najlaa Filimban, Nadia Ghannam, Adel Mohammed Abuzenadah, Fehmida Bibi, Sana Akhtar, Esam I. Azhar, Muhammad Yasir, Muhammad I. Nasser, Asif A. Jiman-Fatani, Ali Sawan, Ruaa A. Lahzah, Asho Ali, Syed A. Hassan, Seyed E. Hasnain, Iftikhar A. Tayubi, Hamza A. Abujabal, Alaa O. Magrabi, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour, Manal Shabaad, Adnan Merdad, Kalamegam Gauthaman, Mamdooh Gari, Hani M. A. Aljahdali, Reham Al Nono, Haneen Alsehli, Mohammed Abbas, Mohammed Sarwar Jamal, Shakeel Ansari, Mansour A. Alghamdi, Magdy Shamy, Max Costa, Mamdouh I. Khoder, Najla Kharrat, Sabrine Belmabrouk, Rania Abdelhedi, Riadh Benmarzoug, Mohammed H. Al Qahtani, Ghazi Dhamanhouri, Abdelwahab Noorwali, Mohammad Khalid Alwasiyah, Afnan Bahamaid, Saadiah Alfakeeh, Aisha Alyamani, Ali Mobasheri, Mohammad Sarwar Jamal, Raziuddin Khan, Kanchan Bhatia, Saif Ahmad, Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava, Syed Hassan, Hamza A. S. Abujabal, Ishani Shah, Ishfaq A. Sheikh, Ejaz Ahmad, Mohd Rehan, Samera F. AlBasri, Rola F. Turki, Sahar A. F. Hammoudah, Khalid M. AlHarbi, Lama M. El-Attar, Ahmed M. Z. Darwish, Sara M. Ibrahim, Hani Choudhry, Jalaludden Awlia, Imran khan, Sameera Al-basri, Taha Kumosani, Heba M. EL Sayed, Eman A. Hafez, Aisha Hassan Elaimi, Randa Ibrahim Bassiouni, Richard F. Wintle, Vikram Gopalakrishna Pillai, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, Tej P. Singh, Fatima Al-Adwani, Deema Hussein, Mona Al-Sharif, Fahad Al-Ghamdi, Saleh S. Baeesa, Taha Abdullah Kumosani, Faisal A. Al-Allaf, Zainularifeen Abduljaleel, Abdullah Alashwal, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Halah Abalkhail, Faisal A. Ba-Hammam, Mohammad Athar, Khalid HussainWali Sait, Naira Ben Mami, Yosr Z. Haffani, Mouna Medhioub, Lamine Hamzaoui, Ameur Cherif, Msadok Azouz, Mohammed Imran Nasser, Shereen A. Turkistany, Lina M. Al-harbi, Jamal Sabir, Basmah Al-Madoudi, Bayan Al-Aslani, Khulud Al-Harbi, Rwan Al-Jahdali, Hanadi Qudaih, Emad Al Hamzy, Asad M. Ilyas, Youssri Ahmed, Mohammed Alqahtani, Alaa Alamandi, Ohoud Subhi, Nadia Bagatian, Adel Al-Johari, Osman Abdel Al-Hamour, Hosam Al-Aradati, Abdulmonem Al-Mutawa, Faisal Al-Mashat, Mohammad Al-Qahtani, Muhammad W. shah, Esam I Azhar, Saad Al-Masoodi, Emna Khamla, Chaima Jlassi, Ahmed S. Masmoudi, Lassaad Belbahri, Shadi Al-Khayyat, Roba Attas, Atlal Abu-Sanad, Mohammed Abuzinadah, Habib Bouazzi, Carlos Trujillo, Maha Alotaibi, Rami Nassir, Essam H. Jiffri, Ghulam M. Ashraf, Mohammad A. Aziz, Rizwan Ali, Nusaibah Samman, Sathish Periyasamy, Mohammed Aldress, Majed Al Otaibi, Zeyad Al Yousef, Mohamed Boudjelal, Ibrahim AlAbdulkarim, Mohd Suhail, Abid Qureshi, Adil Jamal, Mahmoud Z. El-Readi, Safaa Y. Eid, Michael Wink, Ahmed M. Isa, Lulu Alnuaim, Johara Almutawa, Basim Abu-Rafae, Saleh Alasiri, Saleh Binsaleh, and Mohamed H. Alqahtani
- Subjects
0301 basic medicine ,03 medical and health sciences ,030104 developmental biology ,Differentially expressed genes ,Gene expression ,Genetics ,Feature selection ,Computational biology ,Biology ,Cluster analysis ,Classifier (UML) ,Biotechnology - Published
- 2016
19. Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert’s Syndrome
- Author
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Haddad, Faten, primary, Trabelsi, Nawel, additional, Chaouch, Leila, additional, Darragi, Imen, additional, Oueslati, Meriem, additional, Boudriga, Imen, additional, Chaouachi, Dorra, additional, El-Borgi, Wijdene, additional, Hafsia, Raouf, additional, Abbes, Salem, additional, and Ouragini, Houyem, additional
- Published
- 2017
- Full Text
- View/download PDF
20. Two new β+ -thalassemia mutation [β -56 (G → C); HBBc. -106 G → C] and [β -83 (G → A); HBBc. -133 G → A] described among the Tunisian population
- Author
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Kais, Douzi, Imen, Moumni, Amine, Zorai, Maha, Ben Mustapha, Ikbel Mosbahi, Ben Mansour, Chaouachi, Dorra, and Abbes, Salem
- Subjects
Young Adult ,Tunisia ,Mutation ,beta-Thalassemia ,Humans ,Female ,beta-Globins - Abstract
Different thalassemia mutations have been reported in various ethnic groups and geographical regions in Tunisia. In the present study, we have investigated two rare β(+) -thalassemia mutations, that have not previously been reported in the Tunisian population [β -56 (G C); HBBc. -106 G C] and [β -83 (G A); HBBc. -133 G A].The whole β-globin gene was directly sequenced, and haplotype analysis was conducted through a PCR/RFLP method.Two new mutations were identified for the first time in Tunisia. They are located within the promoter region of β-globin gene at position -56 (G C) and -83 (G A). Linkage analysis using β-globin gene cluster haplotypes showed that these two mutations were associated with Mediterranean β-haplotype IX [- + - + + + +] and framework 2 (FW2) [CCTCT].The two newly described mutations lead to the β(+) -thalassemia among Tunisian patients. The haplotype analysis and framework assignment have helped to identify the chromosomal background associated with these mutations, and determine their origin and spread.
- Published
- 2014
21. The role of rs1984112_G atCD36gene in increasing reticulocyte level among sickle cell disease patients
- Author
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Kalai, Miniar, primary, Dridi, Marwa, additional, Chaouch, Leila, additional, Moumni, Imen, additional, Ouragini, Houyem, additional, Darragi, Imen, additional, Boudrigua, Imen, additional, Chaouachi, Dorra, additional, Mellouli, Fethi, additional, Bejaoui, Mohamed, additional, and Abbes, Salem, additional
- Published
- 2016
- Full Text
- View/download PDF
22. rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients
- Author
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Chaouch, Leila, primary, Moumni, Imen, additional, Ouragini, Houyem, additional, Darragi, Imen, additional, Kalai, Miniar, additional, Chaouachi, Dorra, additional, Boudrigua, Imen, additional, Hafsia, Raouf, additional, and Abbes, Salem, additional
- Published
- 2016
- Full Text
- View/download PDF
23. Early complication in Sickle Cell Anemia children due to A(TA)_n TAA polymorphism at the promoter of UGT1A1 gene
- Author
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Chaouch, Leila, Talbi, Emna, Moumni, Imen, Ben Chaabene, Arij, Kalai, Miniar, Chaouachi, Dorra, Mallouli, Fethi, Ghanem, Abderraouf, Abbes, Salem, Laboratoire d'hématologie moléculaire et cellulaire (LR11IPT07), Institut Pasteur de Tunis, and Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)
- Subjects
[SDV]Life Sciences [q-bio] - Abstract
International audience; AIM: To determine the implication of the polymorphism namely A(TA)nTAA of UGT1A1 in lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients. MATERIAL AND METHODS: Our study was performed in 2010 and it involved 76 subjects chosen as control group characterized with normal hemoglobin status and presence of cholelithiasis and 102 SCA pediatric patients among whom 52 have cholelithiasis. We analyzed the polymorphism A(TA)_{n} TAA at the UGT1A1 promoter and the relationships between the various A(TA)_{n} TAA genotypes and alleles and bilirubin levels and occurrence of cholelithiasis. RESULTS AND DISCUSSION: The repartition of genotypes found according to serum bilirubin level shows a significant association between genotypes carried variant (TA)_{7} and hyperbilirubinemia (p< 0.05). We demonstrated the association of two genotypes with gallstones formation among SCA children patients: (TA)_{7}/(TA)_{7} and (TA)_{7}/(TA)_{8} with p=8.1 × 10^{ - 8} and p=0.01 respectively. (TA)_{7} and (TA)_{8} allele variants act as a risk factor for early gallstones formation in SCA patients with p=5.8 × 10^{ -9} and p=0.01 respectively. As for the control group only the genotype (TA)_{7}/(TA)_{7} presented a risk factor for gallstones formation. CONCLUSION: The novelty of this report is that it is the first time that a similar study was made on the Tunisian children sickle cell population and that the results show a clear association of (TA)_{7} variant in early gallstones formation in Tunisian SCA children. Interestingly our findings highlighted the association of (TA)_{8} variant as well, which was not found in previous studies.
- Published
- 2013
24. rs11886868 and rs4671393 ofBCL11Aassociated with HbF level variation and modulate clinical events among sickle cell anemia patients
- Author
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Chaouch, Leila, primary, Moumni, Imen, additional, Ouragini, Houyem, additional, Darragi, Imen, additional, Kalai, Miniar, additional, Chaouachi, Dorra, additional, Boudrigua, Imen, additional, Hafsia, Raouf, additional, and Abbes, Salem, additional
- Published
- 2015
- Full Text
- View/download PDF
25. Association between rs267196 and rs267201 of BMP6 gene and osteonecrosis among Sickle Cell Aneamia patients
- Author
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Chaouch, Leila, primary, Kalai, Miniar, additional, Jbara, Manel Ben, additional, Chaabene, Arij Ben, additional, Darragi, Imen, additional, Chaouachi, Dorra, additional, Mallouli, Fethi, additional, Hafsia, Raouf, additional, Ghanem, Abderraouf, additional, and Abbes, Salem, additional
- Published
- 2015
- Full Text
- View/download PDF
26. Fetal Hemoglobin in Tunisian Sickle Cell Disease Patient: Relationship with Polymorphic Sequences Cis to the β-Globin Gene
- Author
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Moumni, Imen, primary, Ben Mustapha, Maha, additional, Ben Mansour, Ikbel, additional, Zoraï, Amine, additional, Douzi, Kaïs, additional, Sassi, Sarah, additional, Chaouachi, Dorra, additional, Mellouli, Fethi, additional, Bejaoui, Mohamed, additional, and Abbes, Salem, additional
- Published
- 2015
- Full Text
- View/download PDF
27. The role of rs1984112_G at CD36 gene in increasing reticulocyte level among sickle cell disease patients.
- Author
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Kalai, Miniar, Dridi, Marwa, Chaouch, Leila, Moumni, Imen, Ouragini, Houyem, Darragi, Imen, Boudrigua, Imen, Chaouachi, Dorra, Mellouli, Fethi, Bejaoui, Mohamed, and Abbes, Salem
- Subjects
RETICULOCYTES ,PATIENTS ,SICKLE cell anemia ,OSTEONECROSIS ,PRIAPISM ,SYNDROMES - Abstract
Aims and background:Mediators of adhesion become a potential new target for pharmacological therapy to struggle the complications of sickle cell disease (SCD). Several mechanisms for increased adherence have been postulated and the well-studied are CD36 and VLA4 which encoded byITGA4. Herein, we sought to determine whether one polymorphism ofCD36namely: rs1984112 and three exons ofITGA4(4, 5, and 6) are implicated in hemolytic status and clinical events among SCD Tunisian patients. Material and methods:This study enrolled 99 unrelated Tunisian subjects (63SS and 36Sβ). All SCD patients are children (less than 16 years old). The rs1984112 and theITGA4’s exons 4, 5, and 6 were analyzed for all subjects by PCR/sequencing. The association of each genotype found with both clinical complications and hemolytic status was performed usingt-test. Clinical events studied included vaso-occlusive crisis (VOC), osteonecrosis, stroke, frequent infection, priapism, and acute syndrome. Results:The results show that rs1984112_G allele atCD36gene revealed to be associated with higher levels of reticulocyte count (p < 0.01). The statistical result show a near significance of homozygous mutant GG genotype with VOC (p = 0.051). No association between rs1984112_G allele and the clinical severity of SCD were found. Mutational screening of exon 4, 5, and 6 ofITGA4gene revealed absence of mutated variant. Conclusion:Our results are similar to those found in Portuguese population which reported the role of rs1984112_G in increasing reticulocyte level among SCD patients. Consequently, the rs1984112_G ofCD36could be considered as a reliable biomarker for predicting patients at high risk for vascular occlusions and thus, allows earlier and more effective therapeutic management. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
28. New Deletion at Promoter of HBG1Gene in Sickle Cell Disease Patients With High HbF Level
- Author
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Chaouch, Leila, Sellami, Houssem, Kalai, Miniar, Darragi, Imen, Boudrigua, Imen, Chaouachi, Dorra, Abbes, Salem, and Mnif, Samia
- Published
- 2020
- Full Text
- View/download PDF
29. Early Complication in Sickle Cell Anemia Children due toA(TA)nTAAPolymorphism at the Promoter ofUGT1A1Gene
- Author
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Chaouch, Leila, primary, Talbi, Emna, additional, Moumni, Imen, additional, Ben Chaabene, Arij, additional, Kalai, Miniar, additional, Chaouachi, Dorra, additional, Mallouli, Fethi, additional, Ghanem, Abderraouf, additional, and Abbes, Salem, additional
- Published
- 2013
- Full Text
- View/download PDF
30. Genetic link with cholelithiasis among pediatric SCA Tunisian patients: Examples of UGT1A1 , SLCO1A2 and SLCO1B1.
- Author
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Chaouch, Leila, Kalai1, Miniar, Darragi, Imen, Boudrigua, Imen, Chaouachi, Dorra, Ammar, Slim Ben, Mellouli, F., Bjaoui, M., and Abbes, Salem
- Subjects
GALLSTONES ,HYPERBILIRUBINEMIA ,GENETIC polymorphisms ,SICKLE cell anemia ,CHI-squared test - Abstract
Aims and background: Hyperbilirubinemia is often observed in chronic hemolysis and results in the formation of pigment cholelithiasis that could be increased by the presence of defected enzymes involved in the bilirubin metabolism. Indeed, this is the first report that interested in the study of polymorphisms in genes encoded for enzymes involved in the bilirubin metabolism: rs 4149056 ofSLCO1B1and rs4149000 ofSLCO1A2in combination with rs8175347 and rs887829 ofUGT1A1in order to find a correlation between the polymorphisms studied and the presence of gallstones in a population of sickle cell anemia (SCA) pediatric Tunisians. Material and methods: Our study involved 102 unrelated Tunisian subjects. All SCA patients are children (less than 16 years old) and were characterized by hyperbilirubinemia and 52 of them have cholelithiasis. The polymorphisms of the candidate genes were analyzed for all subjects by PCR/sequencing. Genotype and allele frequencies between cases and controls were compared using Pearson's chi-square test with a significance threshold ofP < 0.05 (compare 2, version 1.02). Results: The novelty of this report is that children carrying the combined genotype of the rs studied: (TA7TA7)/TT/TC/GA have a higher risk to develop gallstones (P = 0.0027, RR = 18.27 (20.0061–915.28)). Conclusion: Altogether our data provide the implication of UGT1A1 and SLCO1A2 in sickle cell anemia-related cholelithiasis. [ABSTRACT FROM AUTHOR]
- Published
- 2016
- Full Text
- View/download PDF
31. Association of rs1319868, rs1567811 and rs8041224 of IGF1Rgene with infection among sickle cell anemia Tunisian patients
- Author
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Ben Sassi, Mouna, Chaouch, Leila, Kalai, Miniar, Moumni, Imen, Ouragini, Houyem, Darragi, Imen, Chaouachi, Dorra, Boudrigua, Imen, Hafsia, Raouf, and Abbes, Salem
- Abstract
Sickle cell anemia (SCA) is characterized by variable patterns of clinical expression. Polymorphisms linked to different genes have been associated with specific complications of the disease. Herein, we focused on the study of the association of 4 polymorphisms of Insulin like Growth Factor 1 receptor (IGF1R) gene with infections, which are the major cause of death in SCA.
- Published
- 2016
- Full Text
- View/download PDF
32. Early Complication in Sickle Cell Anemia Children due to A(TA)n TAA Polymorphism at the Promoter of UGT1A1 Gene.
- Author
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Chaouch, Leila, Talbi, Emna, Moumni, Imen, Chaabene, Arij Ben, Kalai, Miniar, Chaouachi, Dorra, Mallouli, Fethi, Ghanem, Abderraouf, and Abbes, Salem
- Subjects
GENETIC polymorphism research ,SICKLE cell anemia in children ,BIOMARKERS ,PEDIATRIC research ,GALLSTONES ,BILIRUBIN - Abstract
Aim. To determine the implication of the polymorphism, namely, A(TA)
n TAA of UGT1A1 in lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients. Material and Methods. Our study was performed in 2010 and it involved 76 subjects chosen as control group characterized with normal hemoglobin status and presence of cholelithiasis and 102 SCA pediatric patients among whom 52 have cholelithiasis. We analyzed the polymorphism A(TA)n TAA at the UGT1A1 promoter and the relationships between the various A(TA)n TAA genotypes and alleles and bilirubin levels and occurrence of cholelithiasis. Results and Discussion. The repartition of genotypes found according to serum bilirubin level shows a significant association between genotypes carrying variant (TA)7 and hyperbilirubinemia (P < 0.05). We demonstrated the association of two genotypes with gallstones formation among SCA children patients: (TA)7 /(TA)7 and (TA)7 /(TA)8 with P = 8.1 × 10-8 and P = 0.01, respectively. (TA)7 and (TA)8 allele variants act as a risk factor for early gallstones formation in SCA patients with P = 5.8 × 10-9 and P = 0.01, respectively. As for the control group only the genotype (TA)7 /(TA)7 presented a risk factor for gallstones formation. Conclusion. The novelty of this report is that it is the first time that a similar study wasmade on the Tunisian children sickle cell population and that the results show a clear association of (TA)7 variant in early gallstones formation in Tunisian SCA children. Interestingly our findings highlighted the association of (TA)8 variant as well, which was not found in previous studies. [ABSTRACT FROM AUTHOR]- Published
- 2013
- Full Text
- View/download PDF
33. Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)
- Author
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Shay, Jerry W., Homma, Noriko, Zhou, Ruyun, Naseer, Muhammad Imran, Chaudhary, Adeel G., Al-Qahtani, Mohammed, Hirokawa, Nobutaka, Goudarzi, Maryam, Fornace, Albert J., Baeesa, Saleh, Hussain, Deema, Bangash, Mohammed, Alghamdi, Fahad, Schulten, Hans-Juergen, Carracedo, Angel, Khan, Ishaq, Qashqari, Hanadi, Madkhali, Nawal, Saka, Mohamad, Saini, Kulvinder S., Jamal, Awatif, Al-Maghrabi, Jaudah, Abuzenadah, Adel, Chaudhary, Adeel, Al Qahtani, Mohammed, Damanhouri, Ghazi, Alkhatabi, Heba, Goodeve, Anne, Crookes, Laura, Niksic, Nikolas, Beauchamp, Nicholas, Abuzenadah, Adel M., Vaught, Jim, Budowle, Bruce, Assidi, Mourad, Buhmeida, Abdelbaset, Merdad, Leena, Kumar, Sudhir, Miura, Sayaka, Gomez, Karen, Rasool, Mahmood, Rebai, Ahmed, Karim, Sajjad, Eldin, Hend F. Nour, Abusamra, Heba, Alhathli, Elham M., Salem, Nada, Al-Qahtani, Mohammed H., Faheem, Hossam, Agarwa, Ashok, Nieschlag, Eberhard, Wistuba, Joachim, Damm, Oliver S., Beg, Mohd A., Abdel-Meguid, Taha A., Mosli, Hisham A., Bajouh, Osama S., Coskun, Serdar, Abu-Elmagd, Muhammad, Dallol, Ashraf, Hakamy, Sahar, Al-Qahtani, Wejdan, Al-Harbi, Asia, Hussain, Shireen, Ozkosem, Burak, DuBois, Rick, Messaoudi, Safia S., Dandana, Maryam T., Mahjoub, Touhami, Almawi, Wassim Y., Abdalla, S., Al-Aama, M. Nabil, Elzawahry, Asmaa, Takahashi, Tsuyoshi, Mimaki, Sachiyo, Furukawa, Eisaku, Nakatsuka, Rie, Kurosaka, Isao, Nishigaki, Takahiko, Nakamura, Hiromi, Serada, Satoshi, Naka, Tetsuji, Hirota, Seiichi, Shibata, Tatsuhiro, Tsuchihara, Katsuya, Nishida, Toshirou, Kato, Mamoru, Mehmood, Sajid, Ashraf, Naeem Mahmood, Asif, Awais, Bilal, Muhammad, Mehmood, Malik Siddique, Hussain, Aadil, Jamal, Qazi Mohammad Sajid, Siddiqui, Mughees Uddin, Alzohairy, Mohammad A., Al Karaawi, Mohammad A., Nedjadi, Taoufik, Al-Khattabi, Heba, Al-Ammari, Adel, Al-Sayyad, Ahmed, Zitouni, Hédia, Raguema, Nozha, Ali, Marwa Ben, Malah, Wided, Lfalah, Raja, Almawi, Wassim, Elanbari, Mohammed, Ptitsyn, Andrey, Mahjoub, Sana, El Ghali, Rabeb, Achour, Bechir, Amor, Nidhal Ben, N’siri, Brahim, Morjani, Hamid, Azhar, Esam, Chayeb, Vera, Dendena, Maryam, Zitouni, Hedia, Zouari-Limayem, Khedija, Refaat, Bassem, Ashshi, Ahmed M., Batwa, Sarah A., Ramadan, Hazem, Awad, Amal, Ateya, Ahmed, El-Shemi, Adel Galal Ahmed, Ashshi, Ahmad, Basalamah, Mohammed, Na, Youjin, Yun, Chae-Ok, El-Shemi, Adel Galal, Kensara, Osama, Abdelfattah, Amr, Dheeb, Batol Imran, Al-Halbosiy, Mohammed M. F., Al lihabi, Rghad Kadhim, Khashman, Basim Mohammed, Laiche, Djouhri, Adeel, Chaudhary, Taoufik, Nedjadi, Al-Afghani, Hani, Łastowska, Maria, Al-Balool, Haya H., Sheth, Harsh, Mercer, Emma, Coxhead, Jonathan M., Redfern, Chris P. F., Peters, Heiko, Burt, Alastair D., Santibanez-Koref, Mauro, Bacon, Chris M., Chesler, Louis, Rust, Alistair G., Adams, David J., Williamson, Daniel, Clifford, Steven C., Jackson, Michael S., Singh, Mala, Mansuri, Mohmmad Shoab, Jadeja, Shahnawaz D., Patel, Hima, Marfatia, Yogesh S., Begum, Rasheedunnisa, Mohamed, Amal M., Kamel, Alaa K., Helmy, Nivin A., Hammad, Sayda A., Kayed, Hesham F., Shehab, Marwa I., El Gerzawy, Assad, Ead, Maha M., Ead, Ola M., Mekkawy, Mona, Mazen, Innas, El-Ruby, Mona, Shahid, S. M. A., Arif, J. M., Lohani, Mohtashim, Imen, Moumni, Leila, Chaouch, Houyem, Ouragini, Kais, Douzi, Fethi, Chaouachi Dorra Mellouli, Mohamed, Bejaoui, Salem, Abbes, Faggad, Areeg, Gebreslasie, Amanuel T., Zaki, Hani Y., Abdalla, Badreldin E., AlShammari, Maha S., Al-Ali, Rhaya, Al-Balawi, Nader, Al-Enazi, Mansour, Al-Muraikhi, Ali, Busaleh, Fadi, Al-Sahwan, Ali, Borgio, Francis, Sayyed, Abdulazeez, Al-Ali, Amein, Acharya, Sadananda, Zaki, Maha S., El-Bassyouni, Hala T., Elshal, Mohammed F., M., Kaleemuddin, Aldahlawi, Alia M., Saadah, Omar, McCoy, J. Philip, El-Tarras, Adel E., Awad, Nabil S., Alharthi, Abdulla A., Ibrahim, Mohamed M. M., Alsehli, Haneen S., Gari, Abdullah M., Abbas, Mohammed M., Kadam, Roaa A., Gari, Mazen M., Alkaff, Mohmmed H., Gari, Mamdooh A., eldin, Hend F. Nour, Moradi, Fatima A., Rashidi, Omran M., Awan, Zuhier A., Kaya, Ibrahim Hamza, Al-Harazi, Olfat, Colak, Dilek, Alkousi, Nabila A., Athanasopoulos, Takis, Bahmaid, Afnan O., Alhwait, Etimad A., Alkaf, Mohammed H., Kadam, Roaa, Kalamegam, Gauthaman, Alhathli, Elham, Alsayed, Salma N., Aljohani, Fawziah H., Habeeb, Samaher M., Almashali, Rawan A., Basit, Sulman, Ahmed, Samia M., Sharma, Rakesh, Agarwal, Ashok, Durairajanayagam, Damayanthi, Samanta, Luna, Sabanegh, Edmund S., Cui, Zhihong, Alboogmi, Alaa A., Alansari, Nuha A., Al-Quaiti, Maha M., Ashgan, Fai T., Bandah, Afnan, Jamal, Hasan S., Rozi, Abdullraheem, Mirza, Zeenat, Al Sayyad, Ahmad J., Farsi, Hasan M. A., Al-Maghrabi, Jaudah A., Alotibi, Reem, Al-Ahmadi, Alaa, Albogmi, Alaa A., Ebiya, Rasha A., Darwish, Samia M., Montaser, Metwally M., Bajic, Vladimir B., Gomaa, Wafaey, Hanbazazh, Mehenaz, Al-Ahwal, Mahmoud, Hakamy, Saher, Baba, Ghali, Al-Harbi, Abdullah, Baba, Ghalia, Eldin, Hend Nour, Alyamani, Aisha A., Gadi, Rawan, Alfakeeh, Saadiah M., Ghazala, Rubi, Mathew, Shilu, Hamed, M. Haroon, Qadri, Ishtiaq, Mira, Lobna, Shaabad, Manal, Almutairi, Mikhlid H., Ambers, Angie, Churchill, Jennifer, King, Jonathan, Stoljarova, Monika, Gill-King, Harrell, Al-Qatani, Muhammad, Ahmed, Farid, Almagd, Taha Abo, Al-Qahtani, Muhammad, Buhmaida, Abdelbaset, Satar, Rukhsana, Ahmad, Waseem, Nazam, Nazia, Lone, Mohamad I., Naseer, Muhammad I., Jamal, Mohammad S., Zaidi, Syed K., Pushparaj, Peter N., Jafri, Mohammad A., Ansari, Shakeel A., Alqahtani, Mohammed H., Bashier, Hanan, Al Qahtani, Abrar, Nour, Amal M., Zenadah, Adel M. Abu, Al Qahtani, Muhammed, Faheem, Muhammad, Mathew, Shiny, Pushparaj, Peter Natesan, Al-Qahtani, Mohammad H., Alhadrami, Hani A., Hussein, Ibtessam R., Bader, Rima S., Bassiouni, Randa, Alquaiti, Maha, Ashgan, Fai, Schulten, Hans, Alama, Mohamed Nabil, Al Qahtani, Mohammad H., Lone, Mohammad I., Nizam, Nazia, Al-Qahtani, Muhammed H., Alshihri, Eradah, Alharbi, Lina, Natesan, Peter Pushparaj, Khan, Fazal, Sait, Khalid Hussain Wali, Anfinan, Nisreen, Mira, Lobna S., AlQahtani, Mohammed H., Sogaty, Sameera, Bassiouni, Randa I., Sibiani, Abdulrahman M. S., Warsi, Mohiuddin K., Rubi, Kumar, Kundan, Naqvi, Ahmad A. T., Ahmad, Faizan, Hassan, Md I., Ali, Ashraf, Jarullah, Jummanah, Buhmeida, Abdelbasit, Khan, Shahida, Abdussami, Ghufrana, Mahfooz, Maryam, Kamal, Mohammad A., Damanhouri, Ghazi A., Jarullah, Bushra, Jarullah, Mohammad S. S., Bajouh, Osama, Mathkoor, Abdulah E. A., Alsalmi, Hashim M. A., Oun, Anas M. M., Damanhauri, Ghazi A., Chudhary, Adeel G., Abutalib, Yousif A., Merico, Daniele, Walker, Susan, Marshall, Christian R., Zarrei, Mehdi, Scherer, Stephen W., Ashgan, Fai Talal, Zaidi, Syed Kashif, Jan, Mohammed M., Al-Zahrani, Maryam, Lary, Sahira, Dermitzakis, Emmanuel, Al-refai, Abeer A., Saleh, Mona, Yassien, Rehab I., Kamel, Mahmmoud, Habeb, Rabab M., Filimban, Najlaa, Ghannam, Nadia, Abuzenadah, Adel Mohammed, Bibi, Fehmida, Akhtar, Sana, Azhar, Esam I., Yasir, Muhammad, Nasser, Muhammad I., Jiman-Fatani, Asif A., Sawan, Ali, Lahzah, Ruaa A., Ali, Asho, Hassan, Syed A., Hasnain, Seyed E., Tayubi, Iftikhar A., Abujabal, Hamza A., Magrabi, Alaa O., Abuzenada, Adel, Kumosani, Taha Abduallah, Barbour, Elie, Shabaad, Manal, Merdad, Adnan, Gauthaman, Kalamegam, Gari, Mamdooh, Aljahdali, Hani M. A., Al Nono, Reham, Alsehli, Haneen, Abbas, Mohammed, Jamal, Mohammed Sarwar, Ansari, Shakeel, Alghamdi, Mansour A., Shamy, Magdy, Costa, Max, Khoder, Mamdouh I., Kharrat, Najla, Belmabrouk, Sabrine, Abdelhedi, Rania, Benmarzoug, Riadh, Al Qahtani, Mohammed H., Dhamanhouri, Ghazi, Noorwali, Abdelwahab, Alwasiyah, Mohammad Khalid, Bahamaid, Afnan, Alfakeeh, Saadiah, Alyamani, Aisha, Mobasheri, Ali, Jamal, Mohammad Sarwar, Khan, Raziuddin, Bhatia, Kanchan, Ahmad, Saif, AslamTayubi, Iftikhar, Tripathi, Manish, Hassan, Syed Asif, Shrivastava, Rahul, Hassan, Syed, Abujabal, Hamza A. S., Shah, Ishani, Sheikh, Ishfaq A., Ahmad, Ejaz, Rehan, Mohd, AlBasri, Samera F., Turki, Rola F., Hammoudah, Sahar A. F., AlHarbi, Khalid M., El-Attar, Lama M., Darwish, Ahmed M. Z., Ibrahim, Sara M., Choudhry, Hani, Awlia, Jalaludden, khan, Imran, Al-basri, Sameera, Kumosani, Taha, EL Sayed, Heba M., Hafez, Eman A., Elaimi, Aisha Hassan, Bassiouni, Randa Ibrahim, Wintle, Richard F., Pillai, Vikram Gopalakrishna, Sharma, Sujata, Kaur, Punit, Srinivasan, Alagiri, Singh, Tej P., Al-Adwani, Fatima, Hussein, Deema, Al-Sharif, Mona, Al-Ghamdi, Fahad, Baeesa, Saleh S., Kumosani, Taha Abdullah, Al-Allaf, Faisal A., Abduljaleel, Zainularifeen, Alashwal, Abdullah, Taher, Mohiuddin M., Bouazzaoui, Abdellatif, Abalkhail, Halah, Ba-Hammam, Faisal A., Athar, Mohammad, Sait, Khalid HussainWali, Mami, Naira Ben, Haffani, Yosr Z., Medhioub, Mouna, Hamzaoui, Lamine, Cherif, Ameur, Azouz, Msadok, Nasser, Mohammed Imran, Turkistany, Shereen A., Al-harbi, Lina M., Sabir, Jamal, Al-Madoudi, Basmah, Al-Aslani, Bayan, Al-Harbi, Khulud, Al-Jahdali, Rwan, Qudaih, Hanadi, Al Hamzy, Emad, Ilyas, Asad M., Ahmed, Youssri, Alqahtani, Mohammed, Alamandi, Alaa, Subhi, Ohoud, Bagatian, Nadia, Al-Johari, Adel, Al-Hamour, Osman Abdel, Al-Aradati, Hosam, Al-Mutawa, Abdulmonem, Al-Mashat, Faisal, Al-Qahtani, Mohammad, shah, Muhammad W., Azhar, Esam I, Al-Masoodi, Saad, Khamla, Emna, Jlassi, Chaima, Masmoudi, Ahmed S., Belbahri, Lassaad, Al-Khayyat, Shadi, Attas, Roba, Abu-Sanad, Atlal, Abuzinadah, Mohammed, Bouazzi, Habib, Trujillo, Carlos, Alotaibi, Maha, Nassir, Rami, Jiffri, Essam H., Ashraf, Ghulam M., Aziz, Mohammad A., Ali, Rizwan, Samman, Nusaibah, Periyasamy, Sathish, Aldress, Mohammed, Al Otaibi, Majed, Al Yousef, Zeyad, Boudjelal, Mohamed, AlAbdulkarim, Ibrahim, Suhail, Mohd, Qureshi, Abid, Jamal, Adil, El-Readi, Mahmoud Z., Eid, Safaa Y., Wink, Michael, Isa, Ahmed M., Alnuaim, Lulu, Almutawa, Johara, Abu-Rafae, Basim, Alasiri, Saleh, Binsaleh, Saleh, and Alqahtani, Mohamed H.
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Genetics ,Meeting Abstracts ,Biotechnology - Abstract
Table of contents O1 Regulation of genes by telomere length over long distances Jerry W. Shay O2 The microtubule destabilizer KIF2A regulates the postnatal establishment of neuronal circuits in addition to prenatal cell survival, cell migration, and axon elongation, and its loss leading to malformation of cortical development and severe epilepsy Noriko Homma, Ruyun Zhou, Muhammad Imran Naseer, Adeel G. Chaudhary, Mohammed Al-Qahtani, Nobutaka Hirokawa O3 Integration of metagenomics and metabolomics in gut microbiome research Maryam Goudarzi, Albert J. Fornace Jr. O4 A unique integrated system to discern pathogenesis of central nervous system tumors Saleh Baeesa, Deema Hussain, Mohammed Bangash, Fahad Alghamdi, Hans-Juergen Schulten, Angel Carracedo, Ishaq Khan, Hanadi Qashqari, Nawal Madkhali, Mohamad Saka, Kulvinder S. Saini, Awatif Jamal, Jaudah Al-Maghrabi, Adel Abuzenadah, Adeel Chaudhary, Mohammed Al Qahtani, Ghazi Damanhouri O5 RPL27A is a target of miR-595 and deficiency contributes to ribosomal dysgenesis Heba Alkhatabi O6 Next generation DNA sequencing panels for haemostatic and platelet disorders and for Fanconi anaemia in routine diagnostic service Anne Goodeve, Laura Crookes, Nikolas Niksic, Nicholas Beauchamp O7 Targeted sequencing panels and their utilization in personalized medicine Adel M. Abuzenadah O8 International biobanking in the era of precision medicine Jim Vaught O9 Biobank and biodata for clinical and forensic applications Bruce Budowle, Mourad Assidi, Abdelbaset Buhmeida O10 Tissue microarray technique: a powerful adjunct tool for molecular profiling of solid tumors Jaudah Al-Maghrabi O11 The CEGMR biobanking unit: achievements, challenges and future plans Abdelbaset Buhmeida, Mourad Assidi, Leena Merdad O12 Phylomedicine of tumors Sudhir Kumar, Sayaka Miura, Karen Gomez O13 Clinical implementation of pharmacogenomics for colorectal cancer treatment Angel Carracedo, Mahmood Rasool O14 From association to causality: translation of GWAS findings for genomic medicine Ahmed Rebai O15 E-GRASP: an interactive database and web application for efficient analysis of disease-associated genetic information Sajjad Karim, Hend F Nour Eldin, Heba Abusamra, Elham M Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar O16 The supercomputer facility “AZIZ” at KAU: utility and future prospects Hossam Faheem O17 New research into the causes of male infertility Ashok Agarwa O18 The Klinefelter syndrome: recent progress in pathophysiology and management Eberhard Nieschlag, Joachim Wistuba, Oliver S. Damm, Mohd A. Beg, Taha A. Abdel-Meguid, Hisham A. Mosli, Osama S. Bajouh, Adel M. Abuzenadah, Mohammed H. Al-Qahtani O19 A new look to reproductive medicine in the era of genomics Serdar Coskun P1 Wnt signalling receptors expression in Saudi breast cancer patients Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Ashraf Dallol, Jaudah Al-Maghrabi, Sahar Hakamy, Wejdan Al-Qahtani, Asia Al-Harbi, Shireen Hussain, Mourad Assidi, Mohammed Al-Qahtani, Adel Abuzenadah P2 Analysis of oxidative stress interactome during spermatogenesis: a systems biology approach to reproduction Burak Ozkosem, Rick DuBois P3 Interleukin-18 gene variants are strongly associated with idiopathic recurrent pregnancy loss. Safia S Messaoudi, Maryam T Dandana, Touhami Mahjoub, Wassim Y Almawi P4 Effect of environmental factors on gene-gene and gene-environment reactions: model and theoretical study applied to environmental interventions using genotype S. Abdalla, M. Nabil Al-Aama P5 Genomics and transcriptomic analysis of imatinib resistance in gastrointestinal stromal tumor Asmaa Elzawahry, Tsuyoshi Takahashi, Sachiyo Mimaki, Eisaku Furukawa, Rie Nakatsuka, Isao Kurosaka, Takahiko Nishigaki, Hiromi Nakamura, Satoshi Serada, Tetsuji Naka, Seiichi Hirota, Tatsuhiro Shibata, Katsuya Tsuchihara, Toshirou Nishida, Mamoru Kato P6 In-Silico analysis of putative HCV epitopes against Pakistani human leukocyte antigen background: an approach towards development of future vaccines for Pakistani population Sajid Mehmood, Naeem Mahmood Ashraf, Awais Asif, Muhammad Bilal, Malik Siddique Mehmood, Aadil Hussain P7 Inhibition of AChE and BuChE with the natural compounds of Bacopa monerri for the treatment of Alzheimer’s disease: a bioinformatics approach Qazi Mohammad Sajid Jamal, Mughees Uddin Siddiqui, Mohammad A. Alzohairy, Mohammad A. Al Karaawi P8 Her2 expression in urothelial cell carcinoma of the bladder in Saudi Arabia Taoufik Nedjadi, Jaudah Al-Maghrabi, Mourad Assidi, Heba Al-Khattabi, Adel Al-Ammari, Ahmed Al-Sayyad, Abdelbaset Buhmeida, Mohammed Al-Qahtani P9 Association of angiotensinogen single nucleotide polymorphisms with Preeclampsia in patients from North Africa Hédia Zitouni, Nozha Raguema, Marwa Ben Ali, Wided Malah, Raja Lfalah, Wassim Almawi, Touhami Mahjoub P10 Systems biology analysis reveals relations between normal skin, benign nevi and malignant melanoma Mohammed Elanbari, Andrey Ptitsyn P11 The apoptotic effect of thymoquinone in Jurkat cells Sana Mahjoub, Rabeb El Ghali, Bechir Achour, Nidhal Ben Amor, Mourad Assidi, Brahim N'siri, Hamid Morjani P12 Sonic hedgehog contributes in bladder cancer invasion in Saudi Arabia Taoufik Nedjadi, Adel Al-Ammari, Ahmed Al-Sayyad, Nada Salem, Esam Azhar, Jaudah Al-Maghrabi P13 Association of Interleukin 18 gene promoter polymorphisms - 607A/C and -137 G/C with colorectal cancer onset in a sample of Tunisian population Vera Chayeb, Maryam Dendena, Hedia Zitouni, Khedija Zouari-Limayem, Touhami Mahjoub P14 Pathological expression of interleukin-6, -11, leukemia inhibitory factor and their receptors in tubal gestation with and without tubal cytomegalovirus infection Bassem Refaat, Ahmed M Ashshi, Sarah A Batwa P15 Phenotypic and genetic profiling of avian pathogenic and human diarrhegenic Escherichia coli in Egypt Hazem Ramadan, Amal Awad, Ahmed Ateya P16 Cancer-targeting dual gene virotherapy as a promising therapeutic strategy for treatment of hepatocellular carcinoma Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok YUN P17 Cancer dual gene therapy with oncolytic adenoviruses expressing TRAIL and IL-12 transgenes markedly eradicated human hepatocellular carcinoma both in vitro and in vivo Adel Galal Ahmed El-Shemi, Ahmad Ashshi, Mohammed Basalamah, Youjin Na, Chae-Ok Yun P18 Therapy with paricalcitol attenuates tumor growth and augments tumoricidal and anti-oncogenic effects of 5-fluorouracil on animal model of colon cancer Adel Galal El-Shemi, Bassem Refaat, Osama Kensara, Amr Abdelfattah P19 The effects of Rubus idaeus extract on normal human lymphocytes and cancer cell line Batol Imran Dheeb, Mohammed M. F. Al-Halbosiy, Rghad Kadhim Al lihabi, Basim Mohammed Khashman P20 Etanercept, a TNF-alpha inhibitor, alleviates mechanical hypersensitivity and spontaneous pain in a rat model of chemotherapy-induced neuropathic pain Djouhri, Laiche, Chaudhary Adeel, Nedjadi, Taoufik P21 Sleeping beauty mutagenesis system identified genes and neuronal transcription factor network involved in pediatric solid tumour (medulloblastoma) Hani Al-Afghani, Maria Łastowska, Haya H Al-Balool, Harsh Sheth, Emma Mercer, Jonathan M Coxhead, Chris PF Redfern, Heiko Peters, Alastair D Burt, Mauro Santibanez-Koref, Chris M Bacon, Louis Chesler, Alistair G Rust, David J Adams, Daniel Williamson, Steven C Clifford, Michael S Jackson P22 Involvement of interleukin-1 in vitiligo pathogenesis Mala Singh, Mohmmad Shoab Mansuri, Shahnawaz D. Jadeja, Hima Patel, Yogesh S. Marfatia, Rasheedunnisa Begum P23 Cytogenetics abnormalities in 12,884 referred population for chromosomal analysis and the role of FISH in refining the diagnosis (cytogenetic experience 2004-2013) Amal M Mohamed, Alaa K Kamel, Nivin A Helmy, Sayda A Hammad, Hesham F Kayed, Marwa I Shehab, Assad El Gerzawy, Maha M. Ead, Ola M Ead, Mona Mekkawy, Innas Mazen, Mona El-Ruby P24 Analysis of binding properties of angiotensin-converting enzyme 2 through in silico method S. M. A. Shahid, Qazi Mohammad Sajid Jamal, J. M. Arif, Mohtashim Lohani P25 Relationship of genetics markers cis and trans to the β-S globin gene with fetal hemoglobin expression in Tunisian sickle cell patients Moumni Imen, Chaouch Leila, Ouragini Houyem, Douzi Kais, Chaouachi Dorra Mellouli Fethi, Bejaoui Mohamed, Abbes Salem P26 Analysis of estrogen receptor alpha gene polymorphisms in breast cancer: link to genetic predisposition in Sudanese women Areeg Faggad, Amanuel T Gebreslasie, Hani Y Zaki, Badreldin E Abdalla P27 KCNQI gene polymorphism and its association with CVD and T2DM in the Saudi population Maha S AlShammari, Rhaya Al-Ali, Nader Al-Balawi , Mansour Al-Enazi, Ali Al-Muraikhi, Fadi Busaleh, Ali Al-Sahwan, Francis Borgio, Abdulazeez Sayyed, Amein Al-Ali, Sadananda Acharya P28 Clinical, neuroimaging and cytogenetic study of a patient with microcephaly capillary malformation syndrome Maha S. Zaki, Hala T. El-Bassyouni, Marwa I. Shehab P29 Altered expression of CD200R1 on dendritic cells of patients with inflammatory bowel diseases: in silico investigations and clinical evaluations Mohammed F. Elshal, Kaleemuddin M., Alia M. Aldahlawi, Omar Saadah, J. Philip McCoy P30 Development of real time PCR diagnostic protocol specific for the Saudi Arabian H1N1 viral strains Adel E El-Tarras, Nabil S Awad, Abdulla A Alharthi, Mohamed M M Ibrahim P31 Identification of novel genetic variations affecting Osteoarthritis patients Haneen S Alsehli, Ashraf Dallol, Abdullah M Gari, Mohammed M Abbas, Roaa A Kadam, Mazen M. Gari, Mohmmed H Alkaff, Adel M Abuzenadah, Mamdooh A Gari P32 An integrated database of GWAS SNVs and their evolutionary properties Heba Abusamra, Sajjad Karim, Hend F Nour eldin, Elham M Alhathli, Nada Salem, Sudhir Kumar, Mohammed H Al-Qahtani P33 Familial hypercholesterolemia in Saudi Arabia: prime time for a national registry and genetic analysis Fatima A. Moradi, Omran M. Rashidi, Zuhier A. Awan P34 Comparative genomics and network-based analyses of early hepatocellular carcinoma Ibrahim Hamza Kaya, Olfat Al-Harazi, Dilek Colak P35 A TALEN-based oncolytic viral vector approach to knock out ABCB1 gene mediated chemoresistance in cancer stem cells Nabila A Alkousi, Takis Athanasopoulos P36 Cartilage differentiation and gene expression of synovial fluid mesenchymal stem cells derived from osteoarthritis patients Afnan O Bahmaid, Etimad A Alhwait, Mamdooh A Gari, Haneen S Alsehli, Mohammed M Abbas, Mohammed H Alkaf, Roaa Kadam, Ashraf Dallol, Gauthaman Kalamegam P37 E-GRASP: Adding an evolutionary component to the genome-wide repository of associations (GRASP) resource Hend F Nour Eldin, Sajjad Karim, Heba Abusamra, Elham Alhathli, Nada Salem, Mohammed H Al-Qahtani, Sudhir Kumar P38 Screening of AGL gene mutation in Saudi family with glycogen storage disease Type III Salma N Alsayed, Fawziah H Aljohani, Samaher M Habeeb, Rawan A Almashali, Sulman Basit, Samia M Ahmed P39 High throughput proteomic data suggest modulation of cAMP dependent protein kinase A and mitochondrial function in infertile patients with varicocele Rakesh Sharma, Ashok Agarwal, Damayanthi Durairajanayagam, Luna Samanta, Muhammad Abu-Elmagd, Adel M. Abuzenadah, Edmund S. Sabanegh, Mourad Assidi, Mohammed Al-Qahtani P40 Significant protein profile alterations in men with primary and secondary infertility Ashok Agarwal, Rakesh Sharma, Luna Samanta, Damayanthi Durairajanayagam, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani, Adel M. Abuzenadah, Edmund S. Sabanegh P41 Spermatozoa maturation in infertile patients involves compromised expression of heat shock proteins Luna Samanta, Ashok Agarwal, Rakesh Sharma, Zhihong Cui, Mourad Assidi, Adel M. Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani P42 Array comparative genomic hybridization approach to search genomic answers for spontaneous recurrent abortion in Saudi Arabia Alaa A Alboogmi, Nuha A Alansari, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Hasan S Jamal, Abdullraheem Rozi, Zeenat Mirza, Adel M Abuzenadah, Sajjad Karim, Mohammed H Al-Qahtani P43 Global gene expression profiling of Saudi kidney cancer patients Sajjad Karim, Hans-Juergen Schulten, Ahmad J Al Sayyad, Hasan MA Farsi, Jaudah A Al-Maghrabi, Zeenat Mirza, Reem Alotibi, Alaa Al-Ahmadi, Nuha A Alansari, Alaa A Albogmi, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Mohammed H Al-Qahtani P44 Downregulated StAR gene and male reproductive dysfunction caused by nifedipine and ethosuximide Rasha A Ebiya, Samia M Darwish, Metwally M. Montaser P45 Clustering based gene expression feature selection method: A computational approach to enrich the classifier efficiency of differentially expressed genes Heba Abusamra, Vladimir B. Bajic P46 Prognostic significance of Osteopontin expression profile in colorectal carcinoma Jaudah Al-Maghrabi, Wafaey Gomaa, Mehenaz Hanbazazh, Mahmoud Al-Ahwal, Asia Al-Harbi, Wejdan Al-Qahtani, Saher Hakamy, Ghali Baba, Abdelbaset Buhmeida, Mohammed Al-Qahtani P47 High Glypican-3 expression pattern predicts longer disease-specific survival in colorectal carcinoma Jaudah Al-Maghrabi, Abdullah Al-Harbi, Mahmoud Al-Ahwal, Asia Al-Harbi, Wejdan Al-Qahtani, Sahar Hakamy, Ghalia Baba, Abdelbaset Buhmeida, Mohammed Al-Qahtani P48 An evolutionary re-assessment of GWAS single nucleotide variants implicated in the Cholesterol traits Elham M Alhathli, Sajjad Karim, Nada Salem, Hend Nour Eldin, Heba Abusamra, Sudhir Kumar, Mohammed H Al-Qahtani P49 Derivation and characterization of human Wharton’s jelly stem cells (hWJSCs) in vitro for future therapeutic applications Aisha A Alyamani, Gauthaman Kalamegam, Etimad A Alhwait, Mamdooh A Gari, Mohammed M Abbas, Mohammed H Alkaf, Haneen S Alsehli, Roaa A Kadam, Mohammed Al-Qahtani P50 Attitudes of healthcare students toward biomedical research in the post-genomic era Rawan Gadi, Abdelbaset Buhmeida, Mourad Assidi , Adeel Chaudhary, Leena Merdad P51 Evaluation of the immunomodulatory effects of thymoquinone on human bone marrow mesenchymal stem cells (BM-MSCs) from osteoarthritic patients Saadiah M Alfakeeh, Etimad A Alhwait, Mamdooh A Gari, Mohammed M Abbas, Mohammed H Alkaf, Haneen S Alsehli, Roaa Kadam, Gauthaman Kalamegam P52 Implication of IL-10 and IL-28 polymorphism with successful anti-HCV therapy and viral clearance Rubi Ghazala, Shilu Mathew, M.Haroon Hamed, Mourad Assidi, Mohammed Al-Qahtani, Ishtiaq Qadri P53 Selection of flavonoids against obesity protein (FTO) using in silico and in vitro approaches Shilu Mathew, Lobna Mira, Manal Shaabad, Shireen Hussain, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani P54 Computational selection and in vitro validation of flavonoids as new antidepressant agents Shilu Mathew, Manal Shaabad, Lobna Mira, Shireen Hussain, Mourad Assidi, Muhammad Abu-Elmagd, Mohammed Al-Qahtani P55 In Silico prediction and prioritization of aging candidate genes associated with progressive telomere shortening Ahmed Rebai, Mourad Assidi, Abdelbaset Buhmeida, Muhammad Abu-Elmagd, Ashraf Dallol, Jerry W Shay P56 Identification of new cancer testis antigen genes in diverse types of malignant human tumour cells Mikhlid H Almutairi P57 More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel sequencing (MPS) Angie Ambers, Jennifer Churchill, Jonathan King, Monika Stoljarova, Harrell Gill-King, Mourad Assidi, Muhammad Abu-Elmagd, Abdelbaset Buhmeida, Muhammad Al-Qatani, Bruce Budowle P58 Flow cytometry approach towards treatment men infertility in Saudi Arabia Muhammad Abu-Elmagd, Farid Ahmed, Ashraf Dallol, Mourad Assidi, Taha Abo Almagd, Sahar Hakamy, Ashok Agarwal, Muhammad Al-Qahtani, Adel Abuzenadah P59 Tissue microarray based validation of CyclinD1 expression in renal cell carcinoma of Saudi kidney patients Sajjad Karim, Hans-Juergen Schulten, Ahmad J Al Sayyad, Hasan MA Farsi, Jaudah A Al-Maghrabi, Abdelbaset Buhmaida, Zeenat Mirza, Reem Alotibi, Alaa Al-Ahmadi, Nuha A Alansari, Alaa A Albogmi, Maha M Al-Quaiti, Fai T Ashgan, Afnan Bandah, Mohammed H Al-Qahtani P60 Assessment of gold nanoparticles in molecular diagnostics and DNA damage studies Rukhsana Satar, Mahmood Rasool, Waseem Ahmad, Nazia Nazam, Mohamad I Lone, Muhammad I Naseer, Mohammad S Jamal, Syed K Zaidi, Peter N Pushparaj, Mohammad A Jafri, Shakeel A Ansari, Mohammed H Alqahtani P61 Surfing the biospecimen management and processing workflow at CEGMR Biobank Hanan Bashier, Abrar Al Qahtani, Shilu Mathew, Amal M. Nour, Heba Alkhatabi, Adel M. Abu Zenadah, Abdelbaset Buhmeida, Mourad Assidi, Muhammed Al Qahtani P62 Autism Spectrum Disorder: knowledge, attitude and awareness in Jeddah, Kingdom of Saudi Arabia Muhammad Faheem, Shilu Mathew, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani P63 Simultaneous genetic screening of the coagulation pathway genes using the Thromboscan targeted sequencing panel Hani A. Alhadrami, Ashraf Dallol, Adel Abuzenadah P64 Genome wide array comparative genomic hybridization analysis in patients with syndromic congenital heart defects Ibtessam R. Hussein, Adeel G. Chaudhary, Rima S Bader, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans Schulten, Mohamed Nabil Alama, Mohammad H. Al Qahtani P65 Toxocogenetic evaluation of 1, 2-Dichloroethane in bone marrow, blood and cells of immune system using conventional, molecular and flowcytometric approaches Mohammad I Lone, Nazia Nizam, Waseem Ahmad, Mohammad A Jafri, Mahmood Rasool, Shakeel A Ansari, Muhammed H Al-Qahtani P66 Molecular cytogenetic diagnosis of sexual development disorders in newborn: A case of ambiguous genitalia Eradah Alshihri, Muhammad Abu-Elmagd, Lina Alharbi, Mourad Assidi, Mohammed Al-Qahtani P67 Identification of disease specific gene expression clusters and pathways in hepatocellular carcinoma using In Silico methodologies Shilu Mathew, Peter Pushparaj Natesan, Muhammed Al Qahtani P68 Human Wharton’s Jelly stem cell conditioned medium inhibits primary ovarian cancer cells in vitro: Identification of probable targets and mechanisms using systems biology Gauthaman Kalamegam, Peter Natesan Pushparaj, Fazal Khan, Roaa Kadam, Farid Ahmed, Mourad Assidi, Khalid Hussain Wali Sait, Nisreen Anfinan, Mohammed Al Qahtani P69 Mutation spectrum of ASPM (Abnormal Spindle-like, Microcephaly-associated) gene in Saudi Arabian population Muhammad I Naseer, Adeel G Chaudhary, Mohammad S Jamal, Shilu Mathew, Lobna S Mira, Peter N Pushparaj, Shakeel A Ansari, Mahmood Rasool, Mohammed H AlQahtani P70 Identification and characterization of novel genes and mutations of primary microcephaly in Saudi Arabian population Muhammad I Naseer, Adeel G Chaudhary, Shilu Mathew, Lobna S Mira, Mohammad S Jamal, Sameera Sogaty, Randa I Bassiouni, Mahmood Rasool, Mohammed H AlQahtani P71 Molecular genetic analysis of hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Saudi Arabian population Mahmood Rasool, Shakeel A Ansari, Mohammad S Jamal, Peter N Pushparaj, Abdulrahman MS Sibiani, Waseem Ahmad, Abdelbaset Buhmeida, Mohammad A Jafri, Mohiuddin K Warsi, Muhammad I Naseer, Mohammed H Al-Qahtani P72 Function predication of hypothetical proteins from genome database of chlamydia trachomatis Rubi, Kundan Kumar, Ahmad AT Naqvi, Faizan Ahmad, Md I Hassan, Mohammad S Jamal, Mahmood Rasool, Mohammed H AlQahtani P73 Transcription factors as novel molecular targets for skin cancer Ashraf Ali, Jummanah Jarullah, Mahmood Rasool, Abdelbasit Buhmeida, Shahida Khan, Ghufrana Abdussami, Maryam Mahfooz, Mohammad A Kamal, Ghazi A Damanhouri, Mohammad S Jamal P74 An In Silico analysis of Plumbagin binding to apoptosis executioner: Caspase-3 and Caspase-7 Bushra Jarullah, Jummanah Jarullah, Mohammad SS Jarullah, Ashraf Ali, Mahmood Rasool, Mohammad S Jamal P75 Single cell genomics applications for preimplantation genetic screening optimization: Comparative analysis of whole genome amplification technologies Mourad Assidi, Muhammad Abu-Elmagd, Osama Bajouh, Peter Natesan Pushparaj, Mohammed Al-Qahtani, Adel Abuzenadah P76 ZFP36 regulates miRs-34a in anti-IgM triggered immature B cells Mohammad S Jamal, Jummanah Jarullah, Abdulah EA Mathkoor, Hashim MA Alsalmi, Anas MM Oun, Ghazi A Damanhauri, Mahmood Rasool, Mohammed H AlQahtani P77 Identification of a novel mutation in the STAMBP gene in a family with microcephaly-capillary malformation syndrome Muhammad I. Naseer, Mahmood Rasool, Sameera Sogaty, Adeel G. Chudhary, Yousif A. Abutalib, Daniele Merico, Susan Walker, Christian R. Marshall, Mehdi Zarrei, Stephen W. Scherer, Mohammad H. Al-Qahtani P78 Copy number variations in Saudi patients with intellectual disability and epilepsy Muhammad I. Naseer, Muhammad Faheem, Adeel G. Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai Talal Ashgan, Mourad Assidi, Farid Ahmed, Syed Kashif Zaidi, Mohammed M. Jan, Mohammad H. Al-Qahtani P79 Prognostic significance of CD44 expression profile in colorectal carcinoma Maryam Al-Zahrani, Sahira Lary, Sahar Hakamy, Ashraf Dallol, Mahmoud Al-Ahwal, Jaudah Al-Maghrabi, Emmanuel Dermitzakis, Adel Abuzenadah, Abdelbaset Buhmeida, Mohammed Al-Qahtani P80 Association of the endothelial nitric oxide synthase (eNOS) gene G894T polymorphism with hypertension risk and complications Abeer A Al-refai, Mona Saleh, Rehab I Yassien, Mahmmoud Kamel, Rabab M Habeb P81 SNPs array to screen genetic variation among diabetic patients Najlaa Filimban, Ashraf Dallol, Nadia Ghannam, Mohammed Al-Qahtani, Adel Mohammed Abuzenadah P82 Detection and genotyping of Helicobacter pylori among gastric cancer patients from Saudi Arabian population Fehmida Bibi, Sana Akhtar, Esam I. Azhar, Muhammad Yasir, Muhammad I. Nasser, Asif A. Jiman-Fatani, Ali Sawan P83 Antimicrobial drug resistance and molecular detection of susceptibility to Fluoroquinolones among clinical isolates of Salmonella species from Jeddah-Saudi Arabia Ruaa A Lahzah, Asho Ali P84 Identification of the toxic and virulence nature of MAP1138c protein of Mycobacterium avium subsp. paratuberculosis Syed A Hassan, Seyed E Hasnain, Iftikhar A Tayubi, Hamza A Abujabal, Alaa O Magrabi P85 In vitro and in silico evaluation of miR137 in human breast cancer Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour, Mohammed Al-Qahtani P86 Auruka gene is over-expressed in Saudi breast cancer Manal Shabaad, Shilu Mathew, Ashraf Dallol, Adnan Merdad, Abdelbaset Buhmeida, Mohammed Al-Qahtani P87 The potential of immunogenomics in personalized healthcare Mourad Assidi, Muhammad Abu-Elmagd, Kalamegam Gauthaman, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Peter Natesan Pushparaj, Mohammed Al-Qahtani P88 In Silico physiochemical and structural characterization of a putative ORF MAP0591 and its implication in the pathogenesis of Mycobacterium paratuberculosis in ruminants and humans Syed A Hassan, Iftikhar A Tayubi, Hani MA Aljahdali P89 Effects of heat shock on human bone marrow mesenchymal stem cells (BM-MSCs): Implications in regenerative medicine Reham Al Nono, Mamdooh Gari, Haneen Alsehli, Farid Ahmed, Mohammed Abbas, Gauthaman Kalamegam, Mohammed Al-Qahtani P90 In Silico analyses of the molecular targets of Resveratrol unravels its importance in mast cell mediated allergic responses Shilu Mathew, Fazal Khan, Mahmood Rasool, Mohammed Sarwar Jamal, Muhammad Imran Naseer, Zeenat Mirza, Sajjad Karim, Shakeel Ansari, Mourad Assidi, Gauthaman Kalamegam, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Peter Natesan Pushparaj, Mohammed Al-Qahtani P91 Effects of environmental particulate matter on bone-marrow mesenchymal stem cells Muhammad Abu-Elmagd, Gauthaman Kalamegam, Roaa Kadam, Mansour A Alghamdi, Magdy Shamy, Max Costa, Mamdouh I Khoder, Mourad Assidi, Peter Natesan Pushparaj, Mamdooh Gari, Mohammed Al-Qahtani P92 Distinctive charge clusters in human virus proteomes Najla Kharrat, Sabrine Belmabrouk, Rania Abdelhedi, Riadh Benmarzoug, Mourad Assidi, Mohammed H. Al Qahtani, Ahmed Rebai P93 In vitro experimental model and approach in identification of new biomarkers of inflammatory forms of arthritis Ghazi Dhamanhouri, Peter Natesan Pushparaj, Abdelwahab Noorwali, Mohammad Khalid Alwasiyah, Afnan Bahamaid, Saadiah Alfakeeh, Aisha Alyamani, Haneen Alsehli, Mohammed Abbas, Mamdooh Gari, Ali Mobasheri, Gauthaman Kalamegam, Mohammed Al-Qahtani P94 Molecular docking of GABAA receptor subunit γ-2 with novel anti-epileptic compounds Muhammad Faheem, Shilu Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani P95 Breast cancer knowledge, awareness, and practices among Saudi females residing in Jeddah Shilu Mathew, Muhammad Faheem, Shiny Mathew, Peter Natesan Pushparaj, Mohammad H. Al-Qahtani P96 Anti-inflammatory role of Sesamin by Attenuation of Iba1/TNF-α/ICAM-1/iNOS signaling in Diabetic Retinopathy Mohammad Sarwar Jamal, Syed Kashif Zaidi, Raziuddin Khan, Kanchan Bhatia, Mohammed H. Al-Qahtani, Saif Ahmad P97 Identification of drug lead molecule against vp35 protein of Ebola virus: An In-Silico approach Iftikhar AslamTayubi, Manish Tripathi, Syed Asif Hassan, Rahul Shrivastava P98 An approach to personalized medicine from SNP-calling through disease analysis using whole exome-sequencing of three sub-continental populations Iftikhar A Tayubi, Syed Hassan, Hamza A.S Abujabal P99 Low versus high frequency of Glucose –6 – Phosphate Dehydrogenase (G6PD) deficiency in urban against tribal population of Gujarat – A signal to natural selection Ishani Shah, Bushra Jarullah, Mohammad S Jamal, Jummanah Jarullah P100 Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update Ishfaq A Sheikh, Ejaz Ahmad, Mohammad S Jamal, Mohd Rehan, Muhammad Abu-Elmagd, Iftikhar A Tayubi, Samera F AlBasri, Osama S Bajouh, Rola F Turki, Adel M Abuzenadah, Ghazi A Damanhouri, Mohd A Beg, Mohammed Al-Qahtani P101 Prevalence of congenital heart diseases among Down syndrome cases in Saudi Arabia: role of molecular genetics in the pathogenesis Sahar AF Hammoudah, Khalid M AlHarbi, Lama M El-Attar, Ahmed MZ Darwish P102 Combinatorial efficacy of specific pathway inhibitors in breast cancer cells Sara M Ibrahim, Ashraf Dallol, Hani Choudhry, Adel Abuzenadah, Jalaludden Awlia, Adeel Chaudhary, Farid Ahmed, Mohammed Al-Qahtani P103 MiR-143 and miR-145 cluster as potential replacement medicine for the treatment of cancer Mohammad A Jafri, Muhammad Abu-Elmagd, Mourad Assidi, Mohammed Al-Qahtani P104 Metagenomic profile of gut microbiota during pregnancy in Saudi population Imran khan, Muhammad Yasir, Esam I. Azhar, Sameera Al-basri, Elie Barbour, Taha Kumosani P105 Exploration of anticancer targets of selected metabolites of Phoenix dactylifera L. using systems biological approaches Fazal Khan, Gauthaman Kalamegam, Peter Natesan Pushparaj, Adel Abuzenada, Taha Abduallah Kumosani, Elie Barbour P106 CD226 and CD40 gene polymorphism in susceptibility to Juvenile rheumatoid arthritis in Egyptian patients Heba M. EL Sayed, Eman A. Hafez P107 Paediatric exome sequencing in autism spectrum disorder ascertained in Saudi families Hans-Juergen Schulten, Aisha Hassan Elaimi, Ibtessam R Hussein, Randa Ibrahim Bassiouni, Mohammad Khalid Alwasiyah, Richard F Wintle, Adeel Chaudhary, Stephen W Scherer, Mohammed Al-Qahtani P108 Crystal structure of the complex formed between Phospholipase A2 and the central core hydrophobic fragment of Alzheimer’s β- amyloid peptide: a reductionist approach Zeenat Mirza, Vikram Gopalakrishna Pillai, Sajjad Karim, Sujata Sharma, Punit Kaur, Alagiri Srinivasan, Tej P Singh, Mohammed Al-Qahtani P109 Differential expression profiling between meningiomas from female and male patients Reem Alotibi, Alaa Al-Ahmadi, Fatima Al-Adwani, Deema Hussein, Sajjad Karim, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani P110 Neurospheres as models of early brain development and therapeutics Muhammad Faheem, Peter Natesan Pushparaj, Shilu Mathew, Taha Abdullah Kumosani, Gauthaman Kalamegam, Mohammed Al-Qahtani P111 Identification of a recurrent causative missense mutation p.(W577C) at the LDLR exon 12 in familial hypercholesterolemia affected Saudi families Faisal A Al-Allaf, Zainularifeen Abduljaleel, Abdullah Alashwal, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Halah Abalkhail, Faisal A. Ba-Hammam, Mohammad Athar P112 Epithelial ovarian carcinoma (EOC): Systems oncological approach to identify diagnostic, prognostic and therapeutic biomarkers Gauthaman Kalamegam, Peter Natesan Pushparaj, Muhammad Abu-Elmagd, Farid Ahmed Khalid HussainWali Sait, Nisreen Anfinan, Mamdooh Gari, Adeel Chaudhary, Adel Abuzenadah, Mourad Assidi, Mohammed Al-Qahtani P113 Crohn’s disease phenotype in northern Tunisian population Naira Ben Mami, Yosr Z Haffani, Mouna Medhioub, Lamine Hamzaoui, Ameur Cherif, Msadok Azouz P114 Establishment of In Silico approaches to decipher the potential toxicity and mechanism of action of drug candidates and environmental agents Gauthaman Kalamegam, Fazal Khan, Shilu Mathew, Mohammed Imran Nasser, Mahmood Rasool, Farid Ahmed, Peter Natesan Pushparaj, Mohammed Al-Qahtani P115 1q Gain predicts poor prognosis marker for young breast cancer patients Shereen A Turkistany, Lina M Al-harbi, Ashraf Dallol, Jamal Sabir, Adeel Chaudhary, Adel Abuzenadah P116 Disorders of sex chromosomes in a diagnostic genomic medicine unit in Saudi Arabia: Prevalence, diagnosis and future guidelines Basmah Al-Madoudi, Bayan Al-Aslani, Khulud Al-Harbi, Rwan Al-Jahdali, Hanadi Qudaih, Emad Al Hamzy, Mourad Assidi, Mohammed Al Qahtani P117 Combination of WYE354 and Sunitinib demonstrate synergistic inhibition of acute myeloid leukemia in vitro Asad M Ilyas, Youssri Ahmed, Mamdooh Gari, Farid Ahmed, Mohammed Alqahtani P118 Integrated use of evolutionary information in GWAS reveals important SNPs in Asthma Nada Salem, Sajjad Karim, Elham M Alhathli, Heba Abusamra, Hend F Nour Eldin, Mohammed H Al-Qahtani, Sudhir Kumar P119 Assessment of BRAF, IDH1, IDH2, and EGFR mutations in a series of primary brain tumors Fatima Al-Adwani, Deema Hussein, Mona Al-Sharif, Awatif Jamal, Fahad Al-Ghamdi, Jaudah Al-Maghrabi, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Mohammed Al-Qahtani, Hans-Juergen Schulten P120 Expression profiles distinguish oligodendrogliomas from glioblastoma multiformes with or without oligodendroglioma component Alaa Alamandi, Reem Alotibi, Deema Hussein, Sajjad Karim, Jaudah Al-Maghrabi, Fahad Al-Ghamdi, Awatif Jamal, Saleh S Baeesa, Mohammed Bangash, Adeel Chaudhary, Hans-Juergen Schulten, Mohammed Al-Qahtani P121 Hierarchical clustering in thyroid goiters and hyperplastic lesions Ohoud Subhi, Nadia Bagatian, Sajjad Karim, Adel Al-Johari, Osman Abdel Al-Hamour, Hosam Al-Aradati, Abdulmonem Al-Mutawa, Faisal Al-Mashat, Jaudah Al-Maghrabi, Hans-Juergen Schulten, Mohammad Al-Qahtani P122 Differential expression analysis in thyroiditis and papillary thyroid carcinomas with or without coexisting thyroiditis Nadia Bagatian, Ohoud Subhi, Sajjad Karim, Adel Al-Johari, Osman Abdel Al-Hamour, Abdulmonem Al-Mutawa, Hosam Al-Aradati, Faisal Al-Mashat, Mohammad Al-Qahtani, Hans-Juergen Schulten, Jaudah Al-Maghrabi P123 Metagenomic analysis of waste water microbiome in Sausdi Arabia Muhammad W shah, Muhammad Yasir, Esam I Azhar, Saad Al-Masoodi P124 Molecular characterization of Helicobacter pylori from faecal samples of Tunisian patients with gastric cancer Yosr Z Haffani, Msadok Azouz, Emna Khamla, Chaima Jlassi, Ahmed S. Masmoudi, Ameur Cherif, Lassaad Belbahri P125 Diagnostic application of the oncoscan© panel for the identification of hereditary cancer syndrome Shadi Al-Khayyat, Roba Attas, Atlal Abu-Sanad, Mohammed Abuzinadah, Adnan MerdadAshraf Dallol, Adeel Chaudhary, Mohammed Al-Qahtani, Adel Abuzenadah P126 Characterization of clinical and neurocognitive features in a family with a novel OGT gene missense mutation c. 1193G > A/ (p. Ala319Thr) Habib Bouazzi, Carlos Trujillo, Mohammad Khalid Alwasiyah, Mohammed Al-Qahtani P127 Case report: a rare homozygous deletion mutation of TMEM70 gene associated with 3-Methylglutaconic Aciduria and cataract in a Saudi patient Maha Alotaibi, Rami Nassir P128 Isolation and purification of antimicrobial milk proteins Ishfaq A Sheikh, Mohammad A Kamal, Essam H Jiffri, Ghulam M Ashraf, Mohd A Beg P129 Integrated analysis reveals association of ATP8B1 gene with colorectal cancer Mohammad A Aziz, Rizwan Ali, Mahmood Rasool, Mohammad S Jamal, Nusaibah samman, Ghufrana Abdussami, Sathish Periyasamy, Mohiuddin K Warsi, Mohammed Aldress, Majed Al Otaibi, Zeyad Al Yousef, Mohamed Boudjelal, Abdelbasit Buhmeida, Mohammed H Al-Qahtani, Ibrahim AlAbdulkarim P130 Implication of IL-10 and IL-28 polymorphism with successful anti-HCV therapy and viral clearance Rubi Ghazala, Shilu Mathew, M. Haroon Hamed, Mourad Assidi, Mohammed Al-Qahtani, Ishtiaq Qadri P131 Interactions of endocrine disruptor di-(2-ethylhexyl) phthalate (DEHP) and its metabolite mono-2-ethylhexyl phthalate (MEHP) with progesterone receptor Ishfaq A Sheikh, Muhammad Abu-Elmagd, Rola F Turki, Ghazi A Damanhouri, Mohd A. Beg P132 Association of HCV nucleotide polymorphism in the development of hepatocellular carcinoma Mohd Suhail, Abid Qureshi, Adil Jamal, Peter Natesan Pushparaj, Mohammad Al-Qahtani, Ishtiaq Qadri P133 Gene expression profiling by DNA microarrays in colon cancer treated with chelidonine alkaloid Mahmoud Z El-Readi, Safaa Y Eid, Michael Wink P134 Successful in vitro fertilization after eight failed trials Ahmed M. Isa, Lulu Alnuaim, Johara Almutawa, Basim Abu-Rafae, Saleh Alasiri, Saleh Binsaleh P135 Genetic sensitivity analysis using SCGE, cell cycle and mitochondrial membrane potential in OPs stressed leukocytes in Rattus norvegicus through flow cytometric input Nazia Nazam, Mohamad I Lone, Waseem Ahmad, Shakeel A Ansari, Mohamed H Alqahtani
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34. Gilbert syndrome acts as a risk factor of developing gallstone among β hemoglobinopathy Tunisian patients.
- Author
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Chaouch L, Kalai M, Chaouachi D, Mallouli F, Hafsia R, Ben Ammar S, and Abbes S
- Subjects
- Adolescent, Adult, Anemia, Sickle Cell genetics, Bilirubin blood, Female, Gallstones etiology, Gallstones genetics, Genotype, Glucuronosyltransferase genetics, Humans, Male, Middle Aged, Risk Factors, Tunisia epidemiology, Young Adult, beta-Thalassemia genetics, Anemia, Sickle Cell physiopathology, Gallstones epidemiology, Gilbert Disease complications, beta-Thalassemia physiopathology
- Abstract
Background: As a result of chronic hemolysis, hyperbilirubinemia is often observed, leading to the formation of pigment cholelithiasis which could be busted by the presence of uridine diphosphoglucuronosyltransferase 1A1 defects., Aim: Herein, we investigated the effect of glibert mutation on the occurrence of pigment cholelithiasis in Tunisian patients with beta (β) hemoglobinopathy including sickle cell anemia and β thalassemia (minor)., Subjects and Methods: Our study included 151 subjects divided in 75 SCA patients and 76 β thalassemia patients. Both groups of patients were divided into two sub-groups according to the presence or absence of cholelithiasis. The relationship between A(TA)nTAA variation of UGT1A1 gene, the serum bilirubin level and the occurrence of cholilithiasis was investigated., Results: Our results show a significant association between genotypes carrying variant (TA)7 and hyperbilirubinemia (p<0.05). Furthermore, we demonstrated a significant association between (TA)6/(TA)7 and (TA)7/(TA)7 genotypes with cholelithiasis among sickle cell anemia and thalassemia patients (p<0.05)., Conclusion: Altogether, our data provide evidence that genotypes (TA)6/(TA)7 and (TA)7/(TA)7 and (TA)7 variant present a risk factor of developing gallstone among β hemoglobinopathy Tunisian patients.
- Published
- 2015
35. Early complication in Sickle Cell Anemia children due to A(TA)<formula>_n</formula> TAA polymorphism at the promoter of UGT1A1 gene.
- Author
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Chaouch L, Talbi E, Moumni I, Ben Chaabene A, Kalai M, Chaouachi D, Mallouli F, Ghanem A, and Abbes S
- Abstract
AIM: To determine the implication of the polymorphism namely A(TA)nTAA of UGT1A1 in lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients. MATERIAL AND METHODS: Our study was performed in 2010 and it involved 76 subjects chosen as control group characterized with normal hemoglobin status and presence of cholelithiasis and 102 SCA pediatric patients among whom 52 have cholelithiasis. We analyzed the polymorphism A(TA)
_{n} TAA at the UGT1A1 promoter and the relationships between the various A(TA)_{n} TAA genotypes and alleles and bilirubin levels and occurrence of cholelithiasis. RESULTS AND DISCUSSION: The repartition of genotypes found according to serum bilirubin level shows a significant association between genotypes carried variant (TA)_{7} and hyperbilirubinemia (p< 0.05). We demonstrated the association of two genotypes with gallstones formation among SCA children patients: (TA)_{7} /(TA)_{7} and (TA)_{7} /(TA)_{8} with p=8.1 × 10^{ - 8} and p=0.01 respectively. (TA)_{7} and (TA)_{8} allele variants act as a risk factor for early gallstones formation in SCA patients with p=5.8 × 10^{ -9} and p=0.01 respectively. As for the control group only the genotype (TA)_{7} /(TA)_{7} presented a risk factor for gallstones formation. CONCLUSION: The novelty of this report is that it is the first time that a similar study was made on the Tunisian children sickle cell population and that the results show a clear association of (TA)_{7} variant in early gallstones formation in Tunisian SCA children. Interestingly our findings highlighted the association of (TA)_{8} variant as well, which was not found in previous studies.- Published
- 2013
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