Search

Your search keyword '"Eyaid, Wafaa"' showing total 187 results
Start Over Author "Eyaid, Wafaa" Publication Year Range Last 10 years
187 results on '"Eyaid, Wafaa"'

3. CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia.

Author

Alsubeeh, Najlaa A., Almuqbil, Mohammed A., Davies, William, Bertoli‐Avella, Aida, Anikar, Swathi, Zonic, Emir, and Eyaid, Wafaa M.

Abstract

Trichohepatoneurodevelopmental syndrome (THNS) is an ultra‐rare and complex disorder affecting multiple organ systems. It is characterized by liver dysfunction, hypotonia, global developmental delay, coarse hair, and dysmorphic features. We describe two cases of THNS of Saudi origin, the fifth and sixth cases in the medical literature. Both cases presented with multiple dysmorphic features, generalized hypotonia, global developmental delay, and high liver enzyme level. Exome sequencing of Case 1 identified a pathogenic homozygous variant within the CCDC47: NM_020198.2:c.567_570del, p.(Glu190Profs*7). Genome sequencing of Case 2 identified two likely pathogenic heterozygous variants within the CCDC47: NM_020198.2:c.1327C>T, p.(Arg443*) and NM_020198.2:c.422dup, p.(Leu141Phefs*19). The trans phase of the detected variants has been confirmed by the parental testing. Furthermore, we evaluated the gene–disease association as per ClinGen guidelines and reached a strong level of association after inclusion of the new patients/variants. The findings from these cases will help to delineate the clinical phenotype and the mutational spectrum of this complex disorder. [ABSTRACT FROM AUTHOR]

Published
2025
Full Text
View/download PDF

4. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Author

Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, and Bauer, Peter

Published
2021
Full Text
View/download PDF

5. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Author

Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y.T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Uğurlu Çi̇men, Deniz, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Ly, Thanh Thao Nguyen, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., and Reversade, Bruno

Published
2021
Full Text
View/download PDF

6. Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Author

Alshamlani, Lamia K, Alsulaim, Dana S, Alabbad, Raghad S, Alhoshan, Ahad A, Alkhoder, Joud F, Alsaleh, Norah S, Almannai, Mohammed, Ababneh, Faroug, Algattan, Manal, Alsini, Lojain, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa M, Mutairi, Fuad Al, Umair, Muhammad, and Alfadhel, Majid

Subjects
KINGS & rulers, RESEARCH departments, CHILDREN'S hospitals, MOLECULAR genetics, ELECTRONIC health records, CONSANGUINITY
Abstract

aim,1 Raghad S Alabbad,1 Ahad A Alhoshan,1 Joud F Alkhoder,1 Norah S Alsaleh,2 Mohammed Almannai,1– 3 Faroug Ababneh,2 Manal Algattan,4 Lojain Alsini,4 Abdulrahman Faiz Alswaid,2 Wafaa M Eyaid,1– 3 Fuad Al Mutairi,1– 3 Muhammad Umair,3 Majid Alfadhel1– 31College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 2Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children Hospital (KASCH), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 3Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia; 4Pathology and Laboratory Medicine Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia Correspondence: Majid Alfadhel, Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, P.O Box 22490, Riyadh, 11426, Saudi Arabia, Tel +00 966 11 805 3560, Fax +00 966 11 805 5555, Email [email protected] Background: Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications for the prevalence and distribution of major single genetic defects and chromosomal abnormalities within the Saudi population. Methods: Herein, using the BESTCare electronic medical record system (designed to streamline hospital operations, enhance patient care, and improve the overall efficiency of healthcare services; bestcare.ezcaretech.com) in a single tertiary centre, King Abdullah Specialized Children Hospital (KASCH) in Riyadh, Saudi Arabia, we performed a cross-sectional study for all patients referred to the hospital from the 1st January 2020 until 1st January 2022. Results: The present study, which included 1100 individuals, found a high prevalence of consanguinity (64%) and a significant proportion of third-degree relatives (69%). The mean age of participants was 12.24 years, and the diagnostic rate using advanced molecular genetics techniques was 45%, with whole exome sequencing (WES) being the most common method (43%). The study also noted a significant delay in diagnosis for more than a year in 16% of cases, with a common neurodevelopmental phenotype (18%). Conclusion: In conclusion, we revealed the prevalence of consanguineous marriages in the KASCH hospital in Riyadh, Saudi Arabia. We also highlighted the most frequently referred phenotype. These findings are consistent with previous research on the prevalence and impact of consanguinity on rare genetic disorders. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

7. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort

Author

Alharby, Essa, Faqeih, Eissa A., Saleh, Mohammed, Alameer, Seham, Almuntashri, Makki, Pastore, Annalisa, Samman, Manar A., Alnawfal, Abdullah M., Hashem, Mais, Zaytuni, Dimah, Alharbi, Ghadeer, Almannai, Mohammed, Alasmari, Ali, Mahmoud, Adel A., Alwadei, Ali H., Jad, Lamya, AlOtaibi, Ali, Al-Hakami, Fahad, Eyaid, Wafaa, Alkuraya, Fowzan S., Alfadhel, Majid, Peake, Roy W.A., and Almontashiri, Naif A.M.

Published
2020
Full Text
View/download PDF

9. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Author

Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, and Walsh, Christopher A.

Published
2021
Full Text
View/download PDF

10. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Author

Ahmed, Ashfaque, Wang, Meng, Bergant, Gaber, Maroofian, Reza, Zhao, Rongjuan, Alfadhel, Majid, Nashabat, Marwan, AlRifai, Muhammad Talal, Eyaid, Wafaa, Alswaid, Abdulrahman, Beetz, Christian, Qin, Yan, Zhu, Tengfei, Tian, Qi, Xia, Lu, Wu, Huidan, Shen, Lu, Dong, Shanshan, Yang, Xinyi, Liu, Cenying, Ma, Linya, Zhang, Qiumeng, Khan, Rizwan, Shah, Abid Ali, Guo, Jifeng, Tang, Beisha, Leonardis, Lea, Writzl, Karin, Peterlin, Borut, Guo, Hui, Malik, Sajid, Xia, Kun, and Hu, Zhengmao

Published
2021
Full Text
View/download PDF

11. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Author

Bertoli-Avella, Aida M., Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K., Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M., Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A., Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, and Bauer, Peter

Published
2021
Full Text
View/download PDF

12. Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study

Author

Alshamlani,Lamia, Alsulaim,Dana, Alabbad,Raghad, Alhoshan,Ahad, Alkhoder,Joud, Alsaleh,Norah, Almannai,Mohammed, Ababneh,Faroug, Algattan,Manal, Alsini,Lojain, Alswaid,Abdulrahman, Eyaid,Wafaa, Al Mutairi,Fuad, Umair,Muhammad, Alfadhel,Majid, Alshamlani,Lamia, Alsulaim,Dana, Alabbad,Raghad, Alhoshan,Ahad, Alkhoder,Joud, Alsaleh,Norah, Almannai,Mohammed, Ababneh,Faroug, Algattan,Manal, Alsini,Lojain, Alswaid,Abdulrahman, Eyaid,Wafaa, Al Mutairi,Fuad, Umair,Muhammad, and Alfadhel,Majid

Abstract

Lamia K Alshamlani,1 Dana S Alsulaim,1 Raghad S Alabbad,1 Ahad A Alhoshan,1 Joud F Alkhoder,1 Norah S Alsaleh,2 Mohammed Almannai,1– 3 Faroug Ababneh,2 Manal Algattan,4 Lojain Alsini,4 Abdulrahman Faiz Alswaid,2 Wafaa M Eyaid,1– 3 Fuad Al Mutairi,1– 3 Muhammad Umair,3 Majid Alfadhel1– 3 1College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 2Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children Hospital (KASCH), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia; 3Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia; 4Pathology and Laboratory Medicine Department, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaCorrespondence: Majid Alfadhel, Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children’s Hospital, King Abdulaziz Medical City, P.O Box 22490, Riyadh, 11426, Saudi Arabia, Tel +00 966 11 805 3560, Fax +00 966 11 805 5555, Email dralfadhelm@gmail.comBackground: Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications for the prevalence and distribution of major single genetic defects and chromosomal abnormalities within the Saudi population.Methods: Herein, using the BESTCare electronic medical record system (designed to streamline hospital operations, enhance patient care, and improve the overall efficiency of healthcare services; bestcare.ezcaretech.com) in a single tertiary centre, King Abdullah Specia

Published
2024

13. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Author

Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza, Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, and Maroofian, Reza

Abstract

The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with myristic acid alkyne (YnMyr) chemical proteomics in the model organisms and human cells, with the latter also being subjected further to ACBD6 peroxisomal localization studies. The affected individuals (23 males and 22 females), aged 1-50 years, typically present with a complex and progressive disease involving moderate-to-severe global developmental delay/intellectual disability (100%) with significant expressive language impairment (98%), movement disorders (97%), facial dysmorphism (95%) and mild cerebellar ataxia (85%) associated with gait impairment (94%), limb spasticity/hypertonia (76%), oculomotor (71%) and behavioural abnormalities (65%), overweight (59%), microcephaly (39%) and epilepsy (33%). The most conspicuous and common movement disorder was dystonia (94%), frequently leading to early-onset progressive postural deformities (97%), limb dystonia (55%) and cervical dystonia (31%). A jerky tremor in the upper limbs (63%), a mild head tremor (59%), parkinsonism/hypokinesia developing with advancing age (32%) and simple motor and vocal tics were among other frequent movement disorders. Midline brain malformations including corpus callosum abnormalities (70%), hypoplasia/agenesis of the anterior commissure (66%), short midbrain an

Published
2024

14. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Author

Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza, Sub Biomol.Mass Spectrometry & Proteom., Biomolecular Mass Spectrometry and Proteomics, Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Ghayoor Karimiani, Ehsan, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Akay Tayfun, Gulsen, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Bahrami Monajemi, Gholamreza, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Basto, Jorge Pinto, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Hameed Issa, Awatif, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, and Maroofian, Reza

Published
2024

15. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

Author

Musa, Sara, Eyaid, Wafaa, Kamer, Kimberli, Ali, Rehab, Al-Mureikhi, Mariam, Shahbeck, Noora, Al Mesaifri, Fatma, Makhseed, Nawal, Mohamed, Zakkiriah, AlShehhi, Wafaa Ali, Mootha, Vamsi K., Juusola, Jane, Ben-Omran, Tawfeg, Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2019
Full Text
View/download PDF

17. Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Author

Khan, Amjad, primary, Al Shamsi, Bushra, additional, Al Shehhi, Maryam, additional, Kashgari, Amna A., additional, Al Balushi, Aaisha, additional, Al Dihan, Fahad A., additional, Alghamdi, Mohannad A., additional, Manal, Abothnain, additional, González‐Álvarez, Ana C., additional, Arold, Stefan T., additional, and Eyaid, Wafaa, additional

Published
2024
Full Text
View/download PDF

19. Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Author

Alfadhel, Majid, Nashabat, Marwan, Saleh, Mohammed, Elamin, Mohammed, Alfares, Ahmed, Al Othaim, Ali, Umair, Muhammad, Ahmed, Hind, Ababneh, Faroug, Al Mutairi, Fuad, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Almannai, Mohammed, Aljeraisy, Majed, Albdah, Bayan, Hussein, Mohamed A., Rahbeeni, Zuhair, and Alasmari, Ali

Published
2021
Full Text
View/download PDF

20. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

Author

Obaid, Abdulrahman, Nashabat, Marwan, Alfadhel, Majid, Alasmari, Ali, Al Mutairi, Fuad, Alswaid, Abdulrahman, Faqeih, Eissa, Mushiba, Aziza, Albanyan, Marwah, Alalwan, Maryam, Marsden, Deborah, Eyaid, Wafaa, Baumgartner, Matthias, Series Editor, Patterson, Marc, Series Editor, Rahman, Shamima, Series Editor, Peters, Verena, Series Editor, Morava, Eva, Editor-in-Chief, and Zschocke, Johannes, Series Editor

Published
2018
Full Text
View/download PDF

21. RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

Author

Shintaku, Jonathan, Pernice, Wolfgang M., Eyaid, Wafaa, G.C., Jeevan B., Brown, Zuben P., Juanola-Falgarona, Marti, Torres-Torronteras, Javier, Sommerville, Ewen W., Hellebrekers, Debby M.E.I., Blakely, Emma L., Donaldson, Alan, van de Laar, Ingrid, Leu, Cheng-Shiun, Marti, Ramon, Frank, Joachim, Tanji, Kurenai, Koolen, David A., Rodenburg, Richard J., Chinnery, Patrick F., Smeets, H.J.M., Gorman, Grainne S., Bonnen, Penelope E., Taylor, Robert W., and Hirano, Michio

Subjects
Genetic aspects, Health aspects, Causes of, Genetic variation -- Health aspects, Mitochondrial diseases -- Causes of -- Genetic aspects, Mitochondrial DNA -- Health aspects
Abstract

Introduction Autosomal disorders of mitochondrial DNA (mtDNA) maintenance are clinically heterogeneous and typically severe diseases with mtDNA depletion or multiple deletions leading to focal respiratory chain deficiency in affected tissues [...], Mitochondrial DNA (mtDNA) depletion/deletions syndromes (MDDS) encompass a clinically and etiologically heterogenous group of mitochondrial disorders caused by impaired mtDNA maintenance. Among the most frequent causes of MDDS are defects in nucleoside/nucleotide metabolism, which is critical for synthesis and homeostasis of the deoxynucleoside triphosphate (dNTP) substrates of mtDNA replication. A central enzyme for generating dNTPs is ribonucleotide reductase, a critical mediator of de novo nucleotide synthesis composed of catalytic RRM1 subunits in complex with RRM2 or p53R2. Here, we report 5 probands from 4 families who presented with ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle. We identified 3 RRM1 loss-of-function variants, including a dominant catalytic site variant (NP_001024.1: p.N427K) and 2 homozygous recessive variants at p.R381, which has evolutionarily conserved interactions with the specificity site. Atomistic molecular dynamics simulations indicate mechanisms by which RRM1 variants affect protein structure. Cultured primary skin fibroblasts of probands manifested mtDNA depletion under cycling conditions, indicating impaired de novo nucleotide synthesis. Fibroblasts also exhibited aberrant nucleoside diphosphate and dNTP pools and mtDNA ribonucleotide incorporation. Our data reveal that primary RRM1 deficiency and, by extension, impaired de novo nucleotide synthesis are causes of MDDS.

Published
2022
Full Text
View/download PDF

23. Molecular autopsy in maternal–fetal medicine

Author

Shamseldin, Hanan E., Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, and Alkuraya, Fowzan S.

Published
2018
Full Text
View/download PDF

25. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Author

Kaiyrzhanov, Rauan, primary, Rad, Aboulfazl, additional, Lin, Sheng-Jia, additional, Bertoli-Avella, Aida, additional, Kallemeijn, Wouter W, additional, Godwin, Annie, additional, Zaki, Maha S, additional, Huang, Kevin, additional, Lau, Tracy, additional, Petree, Cassidy, additional, Efthymiou, Stephanie, additional, Ghayoor Karimiani, Ehsan, additional, Hempel, Maja, additional, Normand, Elizabeth A, additional, Rudnik-Schöneborn, Sabine, additional, Schatz, Ulrich A, additional, Baggelaar, Marc P, additional, Ilyas, Muhammad, additional, Sultan, Tipu, additional, Alvi, Javeria Raza, additional, Ganieva, Manizha, additional, Fowler, Ben, additional, Aanicai, Ruxandra, additional, Akay Tayfun, Gulsen, additional, Al Saman, Abdulaziz, additional, Alswaid, Abdulrahman, additional, Amiri, Nafise, additional, Asilova, Nilufar, additional, Shotelersuk, Vorasuk, additional, Yeetong, Patra, additional, Azam, Matloob, additional, Babaei, Meisam, additional, Bahrami Monajemi, Gholamreza, additional, Mohammadi, Pouria, additional, Samie, Saeed, additional, Banu, Selina Husna, additional, Basto, Jorge Pinto, additional, Kortüm, Fanny, additional, Bauer, Mislen, additional, Bauer, Peter, additional, Beetz, Christian, additional, Garshasbi, Masoud, additional, Hameed Issa, Awatif, additional, Eyaid, Wafaa, additional, Ahmed, Hind, additional, Hashemi, Narges, additional, Hassanpour, Kazem, additional, Herman, Isabella, additional, Ibrohimov, Sherozjon, additional, Abdul-Majeed, Ban A, additional, Imdad, Maria, additional, Isrofilov, Maksudjon, additional, Kaiyal, Qassem, additional, Khan, Suliman, additional, Kirmse, Brian, additional, Koster, Janet, additional, Lourenço, Charles Marques, additional, Mitani, Tadahiro, additional, Moldovan, Oana, additional, Murphy, David, additional, Najafi, Maryam, additional, Pehlivan, Davut, additional, Rocha, Maria Eugenia, additional, Salpietro, Vincenzo, additional, Schmidts, Miriam, additional, Shalata, Adel, additional, Mahroum, Mohammad, additional, Talbeya, Jawabreh Kassem, additional, Taylor, Robert W, additional, Vazquez, Dayana, additional, Vetro, Annalisa, additional, Waterham, Hans R, additional, Zaman, Mashaya, additional, Schrader, Tina A, additional, Chung, Wendy K, additional, Guerrini, Renzo, additional, Lupski, James R, additional, Gleeson, Joseph, additional, Suri, Mohnish, additional, Jamshidi, Yalda, additional, Bhatia, Kailash P, additional, Vona, Barbara, additional, Schrader, Michael, additional, Severino, Mariasavina, additional, Guille, Matthew, additional, Tate, Edward W, additional, Varshney, Gaurav K, additional, Houlden, Henry, additional, and Maroofian, Reza, additional

Published
2023
Full Text
View/download PDF

26. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Author

Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, and Zada, Abdul Ali Peer

Published
2017
Full Text
View/download PDF

27. What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

Author

Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mohammed, Alotaibi, Raniah, Almutairi, Mashael, Altharawi, Nouf, Alsamer, Alhanouf, Abdelhakim, Marwa, Kafkas, Senay, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah M., Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Rajan, Issaac, Hoehndorf, Robert, Al Mutairi, Fuad, Gojobori, Takashi, and Alfadhel, Majid

Published
2020
Full Text
View/download PDF

28. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia

Author

Imtiaz, Faiqa, Al-Mubarak, Bashayer M., Al-Mostafa, Abeer, Al-Hamed, Mohamed, Allam, Rabab, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Faqeih, Eissa Ali, Alasmari, Ali, Al-Mutairi, Fuad, Alfadhel, Majid, Eyaid, Wafaa M., Rashed, Mohamed S., Al-Sayed, Moeenaldeen, Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
Full Text
View/download PDF

29. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial

Author

Nashabat, Marwan, Obaid, Abdulrahman, Al Mutairi, Fuad, Saleh, Mohammed, Elamin, Mohammed, Ahmed, Hind, Ababneh, Faroug, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Aljeraisy, Majed, Hussein, Mohamed A., Alasmari, Ali, and Alfadhel, Majid

Published
2019
Full Text
View/download PDF

30. A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients

Author

Musa, Sara, primary, Eyaid, Wafaa, additional, Kamer, Kimberli, additional, Ali, Rehab, additional, Al-Mureikhi, Mariam, additional, Shahbeck, Noora, additional, Al Mesaifri, Fatma, additional, Makhseed, Nawal, additional, Mohamed, Zakkiriah, additional, AlShehhi, Wafaa Ali, additional, Mootha, Vamsi K., additional, Juusola, Jane, additional, and Ben-Omran, Tawfeg, additional

Published
2018
Full Text
View/download PDF

31. Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency

Author

Obaid, Abdulrahman, primary, Nashabat, Marwan, additional, Alfadhel, Majid, additional, Alasmari, Ali, additional, Al Mutairi, Fuad, additional, Alswaid, Abdulrahman, additional, Faqeih, Eissa, additional, Mushiba, Aziza, additional, Albanyan, Marwah, additional, Alalwan, Maryam, additional, Marsden, Deborah, additional, and Eyaid, Wafaa, additional

Published
2017
Full Text
View/download PDF

33. Genetic impact of non-consanguineous marriages in Saudi Arabia

Author

Alyahya, Mohammed, primary, Aloraini, Taghrid, additional, Al-Harbi, Youseef, additional, Alsubaie, Lamia, additional, Alswaid, Abdulrahman, additional, Eyaid, Wafaa, additional, Mutairi, Fuad Al, additional, Ababneh, Faroug, additional, Alfadhel, Majid, additional, and Alfares, Ahmed, additional

Published
2022
Full Text
View/download PDF

34. Atypical down syndrome features with an atypical chromosomal rearrangement: a case report.

Author

Khalil, Hiba Abu, Almannai, Mohammed, Albalwi, Mohammed, and Eyaid, Wafaa

Subjects
LOW birth weight, COMPARATIVE genomic hybridization, FETAL growth retardation, CONGENITAL heart disease, DOWN syndrome
Abstract

Copyright of Journal of Biochemical & Clinical Genetics is the property of Discover STM Publishing Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
Full Text
View/download PDF

35. HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients

Author

Alfadhel, Majid, primary, Abadel, Basma, additional, Almaghthawi, Hind, additional, Umair, Muhammad, additional, Rahbeeni, Zuhair, additional, Faqeih, Eissa, additional, Almannai, Mohammed, additional, Alasmari, Ali, additional, Saleh, Mohammed, additional, Eyaid, Wafaa, additional, Alfares, Ahmed, additional, and Al Mutairi, Fuad, additional

Published
2022
Full Text
View/download PDF

36. Erratum: Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (The American Journal of Human Genetics (2021) 108(7) (1301–1317), (S0002929721001877), (10.1016/j.ajhg.2021.05.003))

Author

Wong, Hui Hui, Seet, Sze Hwee, Maier, Michael, Gurel, Ayse, Traspas, Ricardo Moreno, Lee, Cheryl, Zhang, Shan, Talim, Beril, Loh, Abigail Y. T., Chia, Crystal Y., Teoh, Tze Shin, Sng, Danielle, Rensvold, Jarred, Unal, Sule, Shishkova, Evgenia, Cepni, Ece, Nathan, Fatima M., Sirota, Fernanda L., Liang, Chao, Yarali, Nese, Simsek-Kiper, Pelin O., Mitani, Tadahiro, Ceylaner, Serdar, Arman-Bilir, Ozlem, Mbarek, Hamdi, Gumruk, Fatma, Efthymiou, Stephanie, Çïmen, Deniz U. urlu, Georgiadou, Danai, Sotiropoulou, Kortessa, Houlden, Henry, Paul, Franziska, Pehlivan, Davut, Lainé, Candice, Chai, Guoliang, Ali, Nur Ain, Choo, Siew Chin, Keng, Soh Sok, Boisson, Bertrand, Yılmaz, Elanur, Xue, Shifeng, Coon, Joshua J., Nguyen Ly, Thanh Thao, Gilani, Naser, Hasbini, Dana, Kayserili, Hulya, Zaki, Maha S., Isfort, Robert J., Ordonez, Natalia, Tripolszki, Kornelia, Bauer, Peter, Rezaei, Nima, Seyedpour, Simin, Khotaei, Ghamar Taj, Bascom, Charles C., Maroofian, Reza, Chaabouni, Myriam, Alsubhi, Afaf, Eyaid, Wafaa, Işıkay, Sedat, Gleeson, Joseph G., Lupski, James R., Casanova, Jean-Laurent, Pagliarini, David J., Akarsu, Nurten A., Maurer-Stroh, Sebastian, Cetinkaya, Arda, Bertoli-Avella, Aida, Mathuru, Ajay S., Ho, Lena, Bard, Frederic A., Reversade, Bruno, Graduate School, ACS - Diabetes & metabolism, APH - Mental Health, Amsterdam Reproduction & Development (AR&D), and ACS - Heart failure & arrhythmias

Abstract

(The American Journal of Human Genetics 108, 1301–1317; July 1, 2021) In the version of this paper originally published online, Table 1 incorrectly listed the proband (II:6) from family 6 as female. This deceased individual is now listed correctly as male both in the print issue and online. The authors regret the error.

Published
2021

38. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation Running title: NCKAP1L deficiency

Author

Castro, Carla, Rosenzwajg, Michelle, Carapito, Raphael, Shahrooei, Mohammad, Konantz, Martina, Khan, Amjad, Miao, Zhichao, Gross, Miriam, Tranchant, Thibaud, Radosavljevic, Mirjana, Paul, Nicodème, Stemmelen, Tristan, Pitoiset, Fabien, Hirschler, Aurélie, Nespola, Benoit, Molitor, Anne, Rolli, Véronique, Pichot, Angélique, Faletti, Laura, Rinaldi, Bruno, Friant, Sylvie, Mednikov, Mark, Karauzum, Hatice, Javad Aman, M, CARAPITO, Christine, Lengerke, Claudia, Ziaee, Vahid, Eyaid, Wafaa, Ehl, Stephan, Alroqi, Fayhan, Parvaneh, Nima, Bahram, Seiamak, Centre d’Investigation Clinique intégré en Biothérapies et immunologie [AP-HP pitié-salpêtrière, Paris] (CIC-BTi), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Equipe Plate-forme GENOMAX (Inserm U1109), Fédération Hospitalo-Universitaire OMICARE-Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA)-Université de Strasbourg (UNISTRA)-Immuno-Rhumatologie Moléculaire, Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Engineering and Technology [Peshawar] (UET), Département Sciences Analytiques et Interactions Ioniques et Biomoléculaires (DSA-IPHC), Institut Pluridisciplinaire Hubert Curien (IPHC), and Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2020
Full Text
View/download PDF

39. The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Author

Alfadhel, Majid, primary, Almuqbil, Mohammed, additional, Al Mutairi, Fuad, additional, Umair, Muhammad, additional, Almannai, Mohammed, additional, Alghamdi, Malak, additional, Althiyab, Hamad, additional, Albarakati, Rayyan, additional, Bashiri, Fahad A., additional, Alshuaibi, Walaa, additional, Ba-Armah, Duaa, additional, Saleh, Mohammed A., additional, Al-Asmari, Ali, additional, Faqeih, Eissa, additional, Altuwaijri, Waleed, additional, Al-Rumayyan, Ahmed, additional, Balwi, Mohammed Ali, additional, Ababneh, Faroug, additional, Alswaid, Abdulrahman Faiz, additional, Eyaid, Wafaa M., additional, Almontashiri, Naif A. M., additional, Alhashem, Amal, additional, Hundallah, Khalid, additional, Bertoli-Avella, Aida, additional, Bauer, Peter, additional, Beetz, Christian, additional, Alrifai, Muhammad Talal, additional, Alfares, Ahmed, additional, and Tabarki, Brahim, additional

Published
2021
Full Text
View/download PDF

40. Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Author

Wong, Hui Hui, primary, Seet, Sze Hwee, additional, Maier, Michael, additional, Traspas, Ricardo Moreno, additional, Lee, Cheryl, additional, Shan, Zhang, additional, Loh, Abigail Y. T., additional, Chia, Crystal Y., additional, Teoh, Tze Shin, additional, Sng, Danielle, additional, Cepni, Ece, additional, Nathan, Fatima M., additional, Sirota, Fernanda L., additional, Chao, Liang, additional, Tadahiro, Mitani, additional, Mbarek, Hamdi, additional, Georgiadou, Danai, additional, Sotiropoulou, Kortessa, additional, Paul, Franziska, additional, Pehlivan, Davut, additional, Lainé, Candice, additional, Chai, Guoliang, additional, Ali, Nur Ain, additional, Choo, Siew Chin, additional, Boisson, Bertrand, additional, Xue, Shifeng, additional, Kayserili, Hulya, additional, Zaki, Maha, additional, Isfort, Robert J., additional, Bauer, Peter, additional, Rezaei, Nima, additional, Seyedpour, Simin, additional, Khotaei, Ghamar Taj, additional, Bascom, Charles C., additional, Chaabouni, Myriam, additional, AlSubhi, Afaf, additional, Eyaid, Wafaa, additional, Işıkay, Sedat, additional, Gleeson, Joseph G., additional, Lupski, James R., additional, Casanova, Jean-Laurent, additional, Maurer-Stroh, Sebastian, additional, Bertoli-Avella, Aida, additional, Mathuru, Ajay S., additional, Ho, Lena, additional, Bard, Frederic, additional, and Reversade, Bruno, additional

Published
2021
Full Text
View/download PDF

41. Amended Informative Negative Whole Exome Sequencing Results

Author

Alsubaie, Lamia, primary, Aloraini, Taghrid, additional, Alfarsi, Anar, additional, Mutairi, Fuad Al, additional, Alswaid, Abdulrahman, additional, Alothaim, Ali, additional, Eyaid, Wafaa, additional, Albalwi, Mohammed, additional, Asinan, Aqila, additional, Alniwaider, Rashed, additional, Muitiri, Abdulrahman Al, additional, Alfadhel, Majid, additional, and Alfares, Ahmed, additional

Published
2021
Full Text
View/download PDF

42. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy

Author

Ahmed, Ashfaque, primary, Wang, Meng, additional, Bergant, Gaber, additional, Maroofian, Reza, additional, Zhao, Rongjuan, additional, Alfadhel, Majid, additional, Nashabat, Marwan, additional, AlRifai, Muhammad Talal, additional, Eyaid, Wafaa, additional, Alswaid, Abdulrahman, additional, Beetz, Christian, additional, Qin, Yan, additional, Zhu, Tengfei, additional, Tian, Qi, additional, Xia, Lu, additional, Wu, Huidan, additional, Shen, Lu, additional, Dong, Shanshan, additional, Yang, Xinyi, additional, Liu, Cenying, additional, Ma, Linya, additional, Zhang, Qiumeng, additional, Khan, Rizwan, additional, Shah, Abid Ali, additional, Guo, Jifeng, additional, Tang, Beisha, additional, Leonardis, Lea, additional, Writzl, Karin, additional, Peterlin, Borut, additional, Guo, Hui, additional, Malik, Sajid, additional, Xia, Kun, additional, and Hu, Zhengmao, additional

Published
2020
Full Text
View/download PDF

43. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Author

Bertoli-Avella, Aida M., primary, Beetz, Christian, additional, Ameziane, Najim, additional, Rocha, Maria Eugenia, additional, Guatibonza, Pilar, additional, Pereira, Catarina, additional, Calvo, Maria, additional, Herrera-Ordonez, Natalia, additional, Segura-Castel, Monica, additional, Diego-Alvarez, Dan, additional, Zawada, Michal, additional, Kandaswamy, Krishna K., additional, Werber, Martin, additional, Paknia, Omid, additional, Zielske, Susan, additional, Ugrinovski, Dimitar, additional, Warnack, Gitte, additional, Kampe, Kapil, additional, Iurașcu, Marius-Ionuț, additional, Cozma, Claudia, additional, Vogel, Florian, additional, Alhashem, Amal, additional, Hertecant, Jozef, additional, Al-Shamsi, Aisha M., additional, Alswaid, Abdulrahman Faiz, additional, Eyaid, Wafaa, additional, Al Mutairi, Fuad, additional, Alfares, Ahmed, additional, Albalwi, Mohammed A., additional, Alfadhel, Majid, additional, Al-Sannaa, Nouriya Abbas, additional, Reardon, Willie, additional, Alanay, Yasemin, additional, Rolfs, Arndt, additional, and Bauer, Peter, additional

Published
2020
Full Text
View/download PDF

45. Additional file 2 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

Author

Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Aljoharah Alaskar, Azza Althagafi, Alahmad, Ahmed, Mamoon Rashid, Abdulrahman Alswaid, Alothaim, Ali, Eyaid, Wafaa, Faroug Ababneh, Albalwi, Mohammed, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Abdelhakim, Marwa, Senay Kafkas, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah M., Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Issaac Rajan, Hoehndorf, Robert, Mutairi, Fuad Al, Gojobori, Takashi, and Alfadhel, Majid

Subjects
Data_FILES
Abstract

Additional file 2.

Published
2020
Full Text
View/download PDF

46. Additional file 1 of What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations

Author

Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Aljoharah Alaskar, Azza Althagafi, Alahmad, Ahmed, Mamoon Rashid, Abdulrahman Alswaid, Alothaim, Ali, Eyaid, Wafaa, Faroug Ababneh, Albalwi, Mohammed, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Abdelhakim, Marwa, Senay Kafkas, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah, Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Issaac Rajan, Hoehndorf, Robert, Mutairi, Fuad Al, Gojobori, Takashi, and Alfadhel, Majid

Subjects
Data_FILES
Abstract

Additional file 1.

Published
2020
Full Text
View/download PDF

47. NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

Author

Castro, Carla Noemi, Rosenzwajg, Michelle, Carapito, Raphael, Shahrooei, Mohammad, Konantz, Martina, Khan, Amjad, Miao, Zhichao, Gross, Miriam, Tranchant, Thibaud, Radosavljevic, Mirjana, Paul, Nicodeme, Stemmelen, Tristan, Pitoiset, Fabien, Hirschler, Aurelie, Nespola, Benoit, Molitor, Anne, Rolli, Veronique, Pichot, Angelique, Faletti, Laura Eva, Rinaldi, Bruno, Friant, Sylvie, Mednikov, Mark, Karauzum, Hatice, Aman, M Javad, Carapito, Christine, Lengerke, Claudia, Ziaee, Vahid, Eyaid, Wafaa, Ehl, Stephan, Alroqi, Fayhan, Parvaneh, Nima, and Bahram, Seiamak

Subjects
Cytotoxicity, Immunologic, Male, Immunological Synapses, Immunology, PROTEIN, Research & Experimental Medicine, GUIDELINES, Lymphocyte Activation, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, Cell Degranulation, ACTIVATION, Animals, Humans, Immunodeficiency, CYTOTOXICITY, Family, CELL, Child, MUTATION, Zebrafish, Cell Proliferation, Inflammation, Science & Technology, Homozygote, Immunologic Deficiency Syndromes, Brief Definitive Report, PLATFORM, Infant, Membrane Proteins, Syndrome, Actins, Lymphoproliferative Disorders, Pedigree, MICE, Phenotype, Medicine, Research & Experimental, Mutation, Female, Life Sciences & Biomedicine, GENOMICS, Human Disease Genetics
Abstract

Biallelic mutations in NCKAP1L, a regulator of the actin cytoskeleton, cause immunodeficiency, lymphoproliferation, and hyperinflammation with features of hemophagocytic lymphohistiocytosis. Impaired immune synapse formation, early T cell activation and leading edge formation, and defective neutrophil migration characterize this novel “actinopathy.”, The Nck-associated protein 1–like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage–specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans. In two unrelated patients of Middle Eastern origin, recessive mutations in NCKAP1L abolishing protein expression led to immunodeficiency, lymphoproliferation, and hyperinflammation with features of hemophagocytic lymphohistiocytosis. Immunophenotyping showed an inverted CD4/CD8 ratio with a major shift of both CD4+ and CD8+ cells toward memory compartments, in line with combined RNA-seq/proteomics analyses revealing a T cell exhaustion signature. Consistent with the core function of NCKAP1L in the reorganization of the actin cytoskeleton, patients’ T cells displayed impaired early activation, immune synapse morphology, and leading edge formation. Moreover, knockdown of nckap1l in zebrafish led to defects in neutrophil migration. Hence, NCKAP1L mutations lead to broad immune dysregulation in humans, which could be classified within actinopathies.

Published
2019

48. Front Cover

Author

Alkuraya, Hisham, primary, Patel, Nisha, additional, Ibrahim, Niema, additional, Al Ghamdi, Bandar, additional, Alsulaiman, Sulaiman M., additional, Nowilaty, Sawsan R., additional, Abboud, Emad, additional, Alturki, Ramadan, additional, Alkharashi, Abdullah, additional, Eyaid, Wafaa, additional, Almasseri, Zainab, additional, Alzaidan, Hamad, additional, Alotaibi, Mohammed D., additional, Abu El‐Asrar, Ahmed M., additional, Alamro, Bandar, additional, Helaby, Rana, additional, Elshaer, Amani, additional, Almontashiri, Naif A.M., additional, Al‐Hussaini, Abdulrahman A., additional, and Alkuraya, Fowzan S., additional

Published
2020
Full Text
View/download PDF

49. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

Author

Cheng, Hanyin, primary, Gottlieb, Leah, primary, Marchi, Elaine, primary, Kleyner, Robert, primary, Bhardwaj, Puja, primary, Rope, Alan F, primary, Rosenheck, Sarah, primary, Moutton, Sébastien, primary, Philippe, Christophe, primary, Eyaid, Wafaa, primary, Alkuraya, Fowzan S, primary, Toribio, Janet, primary, Mena, Rafael, primary, Prada, Carlos E, primary, Stessman, Holly, primary, Bernier, Raphael, primary, Wermuth, Marieke, primary, Kauffmann, Birgit, primary, Blaumeiser, Bettina, primary, Kooy, R Frank, primary, Baralle, Diana, primary, Mancini, Grazia M S, primary, Conway, Simon J, primary, Xia, Fan, primary, Chen, Zhao, primary, Meng, Linyan, primary, Mihajlovic, Ljubisa, primary, Marmorstein, Ronen, primary, and Lyon, Gholson J, primary

Published
2020
Full Text
View/download PDF

50. Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome

Author

Alkuraya, Hisham, primary, Patel, Nisha, additional, Ibrahim, Niema, additional, Al Ghamdi, Bandar, additional, Alsulaiman, Sulaiman M., additional, Nowilaty, Sawsan R., additional, Abboud, Emad, additional, Alturki, Ramadan, additional, Alkharashi, Abdullah, additional, Eyaid, Wafaa, additional, Almasseri, Zainab, additional, Alzaidan, Hamad, additional, Alotaibi, Mohammed D., additional, Abu El‐Asrar, Ahmed M., additional, Alamro, Bandar, additional, Helaby, Rana, additional, Elshaer, Amani, additional, Almontashiri, Naif A.M., additional, Al‐Hussaini, Abdulrahman A., additional, and Alkuraya, Fowzan S., additional

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results