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216 results on '"Haghighi, Alireza"'

1. Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.

Author

Jang, Min, Patel, Parth, Pereira, Alexandre, Willcox, Jon, Haghighi, Alireza, Tai, Angela, Ito, Kaoru, Morton, Sarah, Gorham, Joshua, McKean, David, DePalma, Steven, Bernstein, Daniel, Brueckner, Martina, Chung, Wendy, Giardini, Alessandro, Goldmuntz, Elizabeth, Kaltman, Jonathan, Kim, Richard, Newburger, Jane, Shen, Yufeng, Tristani-Firouzi, Martin, Gelb, Bruce, Porter, George, Seidman, Christine, Seidman, Jonathan, and Srivastava, Deepak

Subjects
RNA splicing, algorithms, alleles, child, humans, Child, Humans, RNA, Heart Defects, Congenital, Mutation, RNA Splicing, Gene Frequency, RNA Splicing Factors, Repressor Proteins
Abstract

BACKGROUND: Known genetic causes of congenital heart disease (CHD) explain

Published
2023

5. Distributed interference cancellation in multi-agent scenarios

Author

Shamsi, Mahdi, Haghighi, Alireza Moslemi, and Marvasti, Farokh

Subjects
Computer Science - Multiagent Systems, Computer Science - Machine Learning, Computer Science - Robotics, Electrical Engineering and Systems Science - Signal Processing, Electrical Engineering and Systems Science - Systems and Control
Abstract

This paper considers the problem of detecting impaired and noisy nodes over network. In a distributed algorithm, lots of processing units are incorporating and communicating with each other to reach a global goal. Due to each one's state in the shared environment, they can help the other nodes or mislead them (due to noise or a deliberate attempt). Previous works mainly focused on proper locating agents and weight assignment based on initial environment state to minimize malfunctioning of noisy nodes. We propose an algorithm to be able to adapt sharing weights according to behavior of the agents. Applying the introduced algorithm to a multi-agent RL scenario and the well-known diffusion LMS demonstrates its capability and generality.

Published
2019

7. An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

Author

Haghighi, Alireza, Krier, Joel B, Toth-Petroczy, Agnes, Cassa, Christopher A, Frank, Natasha Y, Carmichael, Nikkola, Fieg, Elizabeth, Bjonnes, Andrew, Mohanty, Anwoy, Briere, Lauren C, Lincoln, Sharyn, Lucia, Stephanie, Gupta, Vandana A, Söylemez, Onuralp, Sutti, Sheila, Kooshesh, Kameron, Qiu, Haiyan, Fay, Christopher J, Perroni, Victoria, Valerius, Jamie, Hanna, Meredith, Frank, Alexander, Ouahed, Jodie, Snapper, Scott B, Pantazi, Angeliki, Chopra, Sameer S, Leshchiner, Ignaty, Stitziel, Nathan O, Feldweg, Anna, Mannstadt, Michael, Loscalzo, Joseph, Sweetser, David A, Liao, Eric, Stoler, Joan M, Nowak, Catherine B, Sanchez-Lara, Pedro A, Klein, Ophir D, Perry, Hazel, Patsopoulos, Nikolaos A, Raychaudhuri, Soumya, Goessling, Wolfram, Green, Robert C, Seidman, Christine E, MacRae, Calum A, Sunyaev, Shamil R, Maas, Richard L, Vuzman, Dana, and Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM)

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Biotechnology, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine, Medical biotechnology
Abstract

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe an integrated clinical diagnostic and research program using whole-exome and whole-genome sequencing (WES/WGS) for Mendelian disease gene discovery. This program employs specific case ascertainment parameters, a WES/WGS computational analysis pipeline that is optimized for Mendelian disease gene discovery with variant callers tuned to specific inheritance modes, an interdisciplinary crowdsourcing strategy for genomic sequence analysis, matchmaking for additional cases, and integration of the findings regarding gene causality with the clinical management plan. The interdisciplinary gene discovery team includes clinical, computational, and experimental biomedical specialists who interact to identify the genetic etiology of the disease, and when so warranted, to devise improved or novel treatments for affected patients. This program effectively integrates the clinical and research missions of an academic medical center and affords both diagnostic and therapeutic options for patients suffering from genetic disease. It may therefore be germane to other academic medical institutions engaged in implementing genomic medicine programs.

Published
2018

11. A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

Author

Horvat, Claire, Johnson, Renee, Lam, Lien, Munro, Jacob, Mazzarotto, Francesco, Roberts, Angharad M., Herman, Daniel S., Parfenov, Michael, Haghighi, Alireza, McDonough, Barbara, DePalma, Steven R., Keogh, Anne M., Macdonald, Peter S., Hayward, Christopher S., Roberts, Amy, Barton, Paul J. R., Felkin, Leanne E., Giannoulatou, Eleni, Cook, Stuart A., Seidman, J. G., Seidman, Christine E., and Fatkin, Diane

Published
2019
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13. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome

Author

Habeb, Abdelhadi M., Flanagan, Sarah E., Zulali, Mohamed A., Abdullah, Mohamed A., Pomahačová, Renata, Boyadzhiev, Veselin, Colindres, Lesby E., Godoy, Guillermo V., Vasanthi, Thiruvengadam, Al Saif, Ramlah, Setoodeh, Aria, Haghighi, Amirreza, Haghighi, Alireza, Shaalan, Yomna, International Neonatal Diabetes Consortium, Hattersley, Andrew T., Ellard, Sian, and De Franco, Elisa

Published
2018
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14. Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age

Author

Brownstein, Catherine A., primary, Douard, Elise, additional, Haynes, Robin L., additional, Koh, Hyun Yong, additional, Haghighi, Alireza, additional, Keywan, Christine, additional, Martin, Bree, additional, Alexandrescu, Sanda, additional, Haas, Elisabeth A., additional, Vargas, Sara O., additional, Wojcik, Monica H., additional, Jacquemont, Sébastien, additional, Poduri, Annapurna H., additional, Goldstein, Richard D., additional, and Holm, Ingrid A., additional

Published
2022
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15. Ribosomal protein S6 kinase beta-1 gene variants cause hypertrophic cardiomyopathy

Author

Pratul Kumar Jain, Shashank Jayappa, Thiagarajan Sairam, Anupam Mittal, Sayan Paul, Vinay J Rao, Harshil Chittora, Deepak K Kashyap, Dasaradhi Palakodeti, Kumarasamy Thangaraj, Jayaprakash Shenthar, Rakesh Koranchery, Ranjith Rajendran, Haghighi Alireza, Kurukkanparampil Sreedharan Mohanan, Andiappan Rathinavel, and Perundurai S Dhandapany

Subjects
Heterozygote, Ribosomal Protein S6 Kinases, Mutation, Genetics, Humans, Ribosomal Protein S6 Kinases, 70-kDa, Exome, Cardiomyopathy, Hypertrophic, Cardiomyopathies, Genetics (clinical)
Abstract

BackgroundHypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease with preserved or increased ejection fraction in the absence of secondary causes. Mutations in the sarcomeric protein-encoding genes predominantly cause HCM. However, relatively little is known about the genetic impact of signalling proteins on HCM.Methods and resultsHere, using exome and targeted sequencing methods, we analysed two independent cohorts comprising 401 Indian patients with HCM and 3521 Indian controls. We identified novel variants in ribosomal protein S6 kinase beta-1 (RPS6KB1 or S6K1) gene in two unrelated Indian families as a potential candidate gene for HCM. The two unrelated HCM families had the same heterozygous missense S6K1 variant (p.G47W). In a replication association study, we identified two S6K1 heterozygotes variants (p.Q49K and p.Y62H) in the UK Biobank cardiomyopathy cohort (n=190) compared with matched controls (n=16 479). These variants are neither detected in region-specific controls nor in the human population genome data. Additionally, we observed an S6K1 variant (p.P445S) in an Arab patient with HCM. Functional consequences were evaluated using representative S6K1 mutated proteins compared with wild type in cellular models. The mutated proteins activated the S6K1 and hyperphosphorylated the rpS6 and ERK1/2 signalling cascades, suggesting a gain-of-function effect.ConclusionsOur study demonstrates for the first time that the variants in the S6K1 gene are associated with HCM, and early detection of the S6K1 variant carriers can help to identify family members at risk and subsequent preventive measures. Further screening in patients with HCM with different ethnic populations will establish the specificity and frequency of S6K1 gene variants.

Published
2021

17. Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations

Author

Koch, Evan M., primary, Du, Justin, additional, Dressner, Michelle, additional, Alwasti, Hashmeya Erahim, additional, Taif, Zahra Al, additional, Shehab, Fatima, additional, Mohamed, Afaf Merza, additional, Ghanem, Amjad, additional, Haghighi, Alireza, additional, Sunyaev, Shamil, additional, and Farhat, Maha, additional

Published
2022
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18. Gold nanostructures : synthesis, properties, and neurological applications

Author

Zare, Iman, Yaraki, Mohammad Tavakkoli, Speranza, Giorgio, Najafabadi, Alireza Hassani, Haghighi, Alireza Shourangiz, Nik, Amirala Bakhshian, Manshian, Bella B., Saraiva, Claudia, Soenen, Stefaan J., Kogan, Marcelo J., Lee, Jee Woong, Apollo, Nicholas V., Bernardino, Liliana, Araya, Eyleen, Mayer, Dirk, Mao, Guangzhao, Hamblin, Michael R., Zare, Iman, Yaraki, Mohammad Tavakkoli, Speranza, Giorgio, Najafabadi, Alireza Hassani, Haghighi, Alireza Shourangiz, Nik, Amirala Bakhshian, Manshian, Bella B., Saraiva, Claudia, Soenen, Stefaan J., Kogan, Marcelo J., Lee, Jee Woong, Apollo, Nicholas V., Bernardino, Liliana, Araya, Eyleen, Mayer, Dirk, Mao, Guangzhao, and Hamblin, Michael R.

Abstract

Recent advances in technology are expected to increase our current understanding of neuroscience. Nanotechnology and nanomaterials can alter and control neural functionality in both in vitro and in vivo experimental setups. The intersection between neuroscience and nanoscience may generate long-term neural interfaces adapted at the molecular level. Owing to their intrinsic physicochemical characteristics, gold nanostructures (GNSs) have received much attention in neuroscience, especially for combined diagnostic and therapeutic (theragnostic) purposes. GNSs have been successfully employed to stimulate and monitor neurophysiological signals. Hence, GNSs could provide a promising solution for the regeneration and recovery of neural tissue, novel neuroprotective strategies, and integrated implantable materials. This review covers the broad range of neurological applications of GNS-based materials to improve clinical diagnosis and therapy. Sub-topics include neurotoxicity, targeted delivery of therapeutics to the central nervous system (CNS), neurochemical sensing, neuromodulation, neuroimaging, neurotherapy, tissue engineering, and neural regeneration. It focuses on core concepts of GNSs in neurology, to circumvent the limitations and significant obstacles of innovative approaches in neurobiology and neurochemistry, including theragnostics. We will discuss recent advances in the use of GNSs to overcome current bottlenecks and tackle technical and conceptual challenges.

Published
2022
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20. Genetic Determinants of Sudden Unexpected Death in Pediatrics

Author

Koh, Hyun Yong, primary, Haghighi, Alireza, additional, Keywan, Christine, additional, Alexandrescu, Sanda, additional, Plews-Ogan, Erin, additional, Haas, Elisabeth A., additional, Brownstein, Catherine A., additional, Vargas, Sara O., additional, Haynes, Robin L., additional, Berry, Gerard T., additional, Holm, Ingrid A., additional, Poduri, Annapurna H., additional, and Goldstein, Richard D., additional

Published
2022
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21. Gold nanostructures: synthesis, properties, and neurological applications

Author

Zare, Iman, primary, Yaraki, Mohammad Tavakkoli, additional, Speranza, Giorgio, additional, Najafabadi, Alireza Hassani, additional, Shourangiz-Haghighi, Alireza, additional, Nik, Amirala Bakhshian, additional, Manshian, Bella B., additional, Saraiva, Cláudia, additional, Soenen, Stefaan J., additional, Kogan, Marcelo J., additional, Lee, Jee Woong, additional, Apollo, Nicholas V., additional, Bernardino, Liliana, additional, Araya, Eyleen, additional, Mayer, Dirk, additional, Mao, Guangzhao, additional, and Hamblin, Michael R., additional

Published
2022
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25. Contribution of Noncanonical Splice Variants toTTNTruncating Variant Cardiomyopathy

Author

Patel, Parth N., primary, Ito, Kaoru, additional, Willcox, Jon A.L., additional, Haghighi, Alireza, additional, Jang, Min Young, additional, Gorham, Joshua M., additional, DePalma, Steven R., additional, Lam, Lien, additional, McDonough, Barbara, additional, Johnson, Renee, additional, Lakdawala, Neal K., additional, Roberts, Amy, additional, Barton, Paul J.R., additional, Cook, Stuart A., additional, Fatkin, Diane, additional, Seidman, Christine E., additional, and Seidman, J.G., additional

Published
2021
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26. HEART DISEASE: Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

Author

Hinson, John T., Chopra, Anant, Nafissi, Navid, Polacheck, William J., Benson, Craig C., Swist, Sandra, Gorham, Joshua, Yang, Luhan, Schafer, Sebastian, Sheng, Calvin C., Haghighi, Alireza, Homsy, Jason, Hubner, Norbert, Church, George, Cook, Stuart A., Linke, Wolfgang A., Chen, Christopher S., Seidman, J. G., and Seidman, Christine E.

Published
2015
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28. Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy

Author

Goli, Rahul, Li, Jian, Brandimarto, Jeff, Levine, Lisa D., Riis, Valerie, McAfee, Quentin, Depalma, Steven, Haghighi, Alireza, Seidman, J. G., Seidman, Christine E., Jacoby, Daniel, Macones, George, Judge, Daniel P., Rana, Sarosh, Margulies, Kenneth B., Cappola, Thomas P., Alharethi, Rami, Damp, Julie, Hsich, Eileen, Elkayam, Uri, Sheppard, Richard, Alexis, Jeffrey D., Boehmer, John, Kamiya, Chizuko, Gustafsson, Finn, Damm, Peter, Ersbøll, Anne S., Goland, Sorel, Hilfiker-Kleiner, Denise, McNamara, Dennis M., Arany, Zolt, Goli, Rahul, Li, Jian, Brandimarto, Jeff, Levine, Lisa D., Riis, Valerie, McAfee, Quentin, Depalma, Steven, Haghighi, Alireza, Seidman, J. G., Seidman, Christine E., Jacoby, Daniel, Macones, George, Judge, Daniel P., Rana, Sarosh, Margulies, Kenneth B., Cappola, Thomas P., Alharethi, Rami, Damp, Julie, Hsich, Eileen, Elkayam, Uri, Sheppard, Richard, Alexis, Jeffrey D., Boehmer, John, Kamiya, Chizuko, Gustafsson, Finn, Damm, Peter, Ersbøll, Anne S., Goland, Sorel, Hilfiker-Kleiner, Denise, McNamara, Dennis M., and Arany, Zolt

Abstract

Background: Peripartum cardiomyopathy (PPCM) occurs in ≈1:2000 deliveries in the United States and worldwide. The genetic underpinnings of PPCM remain poorly defined. Approximately 10% of women with PPCM harbor truncating variants in TTN (TTNtvs). Whether mutations in other genes can predispose to PPCM is not known. It is also not known if the presence of TTNtvs predicts clinical presentation or outcomes. Nor is it known if the prevalence of TTNtvs differs in women with PPCM and preeclampsia, the strongest risk factor for PPCM. Methods: Women with PPCM were retrospectively identified from several US and international academic centers, and clinical information and DNA samples were acquired. Next-generation sequencing was performed on 67 genes, including TTN, and evaluated for burden of truncating and missense variants. The impact of TTNtvs on the severity of clinical presentation, and on clinical outcomes, was evaluated. Results: Four hundred sixty-nine women met inclusion criteria. Of the women with PPCM, 10.4% bore TTNtvs (odds ratio=9.4 compared with 1.2% in the reference population; Bonferroni-corrected P [P∗]=1.2×10-46). We additionally identified overrepresentation of truncating variants in FLNC (odds ratio=24.8, P∗=7.0×10-8), DSP (odds ratio=14.9, P∗=1.0×10-8), and BAG3 (odds ratio=53.1, P∗=0.02), genes not previously associated with PPCM. This profile is highly similar to that found in nonischemic dilated cardiomyopathy. Women with TTNtvs had lower left ventricular ejection fraction on presentation than did women without TTNtvs (23.5% versus 29%, P=2.5×10-4), but did not differ significantly in timing of presentation after delivery, in prevalence of preeclampsia, or in rates of clinical recovery. Conclusions: This study provides the first extensive genetic and phenotypic landscape of PPCM and demonstrates that predisposition to heart failure is an important risk factor for PPCM. The work reveals a degree of genet

Published
2021

29. Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency

Author

Ward, Tarsha, primary, Tai, Warren, additional, Morton, Sarah, additional, Impens, Francis, additional, Van Damme, Petra, additional, Van Haver, Delphi, additional, Timmerman, Evy, additional, Venturini, Gabriela, additional, Zhang, Kehan, additional, Jang, Min Young, additional, Willcox, Jon A.L., additional, Haghighi, Alireza, additional, Gelb, Bruce D., additional, Chung, Wendy K., additional, Goldmuntz, Elizabeth, additional, Porter, George A., additional, Lifton, Richard P., additional, Brueckner, Martina, additional, Yost, H. Joseph, additional, Bruneau, Benoit G., additional, Gorham, Joshua, additional, Kim, Yuri, additional, Pereira, Alexandre, additional, Homsy, Jason, additional, Benson, Craig C., additional, DePalma, Steven R., additional, Varland, Sylvia, additional, Chen, Christopher S., additional, Arnesen, Thomas, additional, Gevaert, Kris, additional, Seidman, Christine, additional, and Seidman, J.G., additional

Published
2021
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30. Genetic determinants of Sudden Unexpected Death in Pediatrics (SUDP)

Author

Koh, Hyunyong, primary, Haghighi, Alireza, additional, Keywan, Christine, additional, Alexandrescu, Sanda, additional, Plews-Ogan, Erin, additional, Haas, Elisabeth, additional, Brownstein, Catherine, additional, Vargas, Sara, additional, Haynes, Robin, additional, Berry, Gerard, additional, Holm, Ingrid, additional, Poduri, Annapurna, additional, and Goldstein, Richard, additional

Published
2021
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31. Association of Parental Consanguinity With Papillary Thyroid Carcinoma: A Case-Control Study

Author

Zayed, Ayman A, primary, Amarin, Justin Z, additional, Al-Ani, Abdallah T, additional, Altell, Tareq L, additional, Abdelhamid, Sultan S, additional, Qirem, Murad M, additional, Fahmawi, Suhib M, additional, Elshebli, Sanad M, additional, Hamo, Khair M, additional, Zaghlol, Louay Y, additional, Tierney, Michael E, additional, Zayed, Jana A, additional, and Haghighi, Alireza, additional

Published
2021
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33. Genetic Determinants of Sudden Unexpected Death in Pediatrics

Author

Koh, Hyunyong, primary, Haghighi, Alireza, additional, Keywan, Christine, additional, Alexandrescu, Sanda, additional, Plews-Ogan, Erin, additional, Haas, Elisabeth A., additional, Brownstein, Catherine A., additional, Vargas, Sara O., additional, Haynes, Robin L., additional, Berry, Gerard T., additional, Holm, Ingrid, additional, Poduri, Annapurna H., additional, and Goldstein, Richard D., additional

Published
2021
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36. Neonatal Diabetes Due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review.

Author

Moravej, Hossein, Mirrashidi, Fatemeh Sadat, Haghighi, Alireza, Amirhakimi, Anis, and Ilkhanipoor, Homa

Subjects
DIAGNOSIS of neonatal diseases, GENETICS of diabetes, DIAGNOSIS of diabetes, PANCREAS, GENETIC mutation, SEQUENCE analysis, NEONATAL diseases, INSULIN derivatives, FETAL growth retardation, EXOCRINE pancreatic insufficiency, DIABETES, TRANSCRIPTION factors, SYMPTOMS, CHILDREN
Abstract

Biallelic variants in the pancreas-specific transcription factor 1A (PTF1A) gene are a rare cause of permanent neonatal diabetes. We report a case of neonatal diabetes with unique clinical manifestations. The clinical diagnosis of the affected infant was confirmed by insufficient endocrine and exocrine pancreas activity; however, the pancreas was normal in imaging. Molecular analyses identified a novel homozygous single nucleotide variant (Chr10, g.23508441T > G), affecting a highly conserved nucleotide within a distal enhancer of the PTF1A gene. The literature review showed that most of these patients had IUGR and imaging evidence of pancreatic agenesis or hypoplasia. We suggest that pancreatic imaging and evaluation of exocrine pancreas function can help early confirmation of the diagnosis in patients with permanent neonatal diabetes. [ABSTRACT FROM AUTHOR]

Published
2022
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38. Genetic study of pediatric hypertrophic cardiomyopathy in Egypt

Author

Darwish, Rania K., primary, Haghighi, Alireza, additional, Seliem, Zeinab S., additional, El-Saiedi, Sonia A., additional, Radwan, Nora H., additional, El-Gayar, Dina F., additional, Elfeel, Nesrine S., additional, Abouelhoda, Mohamed, additional, and Mehaney, Dina A., additional

Published
2020
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39. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Author

Herkert, Johanna C., primary, Verhagen, Judith M.A., additional, Yotti, Raquel, additional, Haghighi, Alireza, additional, Phelan, Dean G., additional, James, Paul A., additional, Brown, Natasha J., additional, Stutterd, Chloe, additional, Macciocca, Ivan, additional, Leong, Kai'En, additional, Bulthuis, Marian L.C., additional, van Bever, Yolande, additional, van Slegtenhorst, Marjon A., additional, Boven, Ludolf G., additional, Roberts, Amy E., additional, Agarwal, Radhika, additional, Seidman, Jonathan, additional, Lakdawala, Neal K., additional, Fernández-Avilés, Francisco, additional, Burke, Michael A., additional, Pierpont, Mary Ella., additional, Braunlin, Elizabeth, additional, Ḉağlayan, Ahmet Okay, additional, Barge-Schaapveld, Daniela Q.C.M., additional, Birnie, Erwin, additional, van Osch-Gevers, Lennie, additional, van Langen, Irene M., additional, Jongbloed, Jan D.H., additional, Lockhart, Paul J., additional, Amor, David J., additional, Seidman, Christine E., additional, and van de Laar, Ingrid M.B.H., additional

Published
2020
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40. SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY

Author

Patel, Parth, primary, Ito, Kaoru, additional, Willcox, Jon A.L., additional, Gorham, Joshua M., additional, DePalma, Steven, additional, Lam, Lien, additional, Haghighi, Alireza, additional, Sharma, Arun, additional, McDonough, Barbara, additional, Johnson, Renee, additional, Fatkin, Diane, additional, Seidman, Christine, additional, and Seidman, Jonathan, additional

Published
2020
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42. Genetic parameters and combining ability of some important traits in rice (Oryza sativa L.)

Author

Ezatollah Farshadfar, Mehrzad Allahgholipour, and Hasanalideh Haghighi Alireza

Subjects
lcsh:Genetics, Oryza sativa, lcsh:QH426-470, rice, F2 progenies, Botany, diallel analysis, genetic parameters, Genetics, Plant Science, Biology, combining ability
Abstract

In order to study the combining ability, genetic parameters and gene actions of yield, yield components and quality characters in rice, fifteen F2 generation of a 6?6 diallel cross, excluding reciprocals, was grown in a randomized complete block design (RCBD) with three replications. The results of analysis of variance showed significant differences between the genotypes for grain yield (GY), 100-grain weight (HGW), number of panicles per plant (PN), panicle length (PL), number of full grains per panicle (FGN) and for quality characters including amylose content (AC) and gel consistency (GC). The results of combining ability analysis revealed that general combining ability (GCA) and specific combining ability (SCA) were significant for characters GY, FGN, GC, AC, HGW and PN indicating the involvement of additive and non-additive effects in their inheritance, however high amounts of Bakers ratio remarked that additive gene effect had more portion in controlling these traits. The best combiners for GY, HGW, FGN, PN and PL, were RI18447-2, IR 50, Daylamani, RI18430-46 and Daylamani respectively. For AC and GC, the best combiner was Daylamani. Hayman's graphs showed that regression line passed below the origin cutting Wr axis in the negative region for HGW, PN, PL and GC, indicating the presence of over dominance. Estimates of genetic parameters showed significant amount of H1 and H2, and non-significant amount of D for the characters GY, PN, PL and GC, which confirmed the existence of dominance in the inheritance of these traits.

Published
2017

43. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

Author

Ng, Yi Shiau, Alston, Charlotte L., Diodato, Daria, Morris, Andrew A., Ulrick, Nicole, Kmoch, Stanislav, Houstek, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvilova, Hana, Santra, Saikat, Brown, Ruth M., Brown, Garry K., Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P., Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Ostergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W., McFarland, Robert, [Ng, Yi Shiau] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [Alston, Charlotte L.] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [Taylor, Robert W.] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [McFarland, Robert] Newcastle Univ, Inst Neurosci, Wellcome Trust Ctr Mitochondrial Res, Framlington Pl, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England, [Diodato, Daria] Children Res Hosp Bambino Gesu, Neuromuscular & Neurodegenerat Dis Unit, Rome, Italy, [Morris, Andrew A.] Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Dept Med Genet, Manchester, Lancs, England, [Ulrick, Nicole] George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA, [Vanderver, Adeline] George Washington Univ, Sch Med, Childrens Natl Hlth Syst, Dept Neurol, Washington, DC USA, [Kmoch, Stanislav] Charles Univ Prague, Inst Inherited Metab Disorders, Fac Med 1, Prague, Czech Republic, [Houstek, Josef] Acad Sci Czech Republic, Inst Physiol, Prague, Czech Republic, [Martinelli, Diego] Children Res Hosp Bambino Gesu, Div Metab, Rome, Italy, [Haghighi, Alireza] Harvard Med Sch, Dept Genet, Boston, MA USA, [Haghighi, Alireza] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA, [Haghighi, Alireza] Brigham & Womens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA, [Atiq, Mehnaz] Aga Khan Univ, Dept Pediat, Karachi, Pakistan, [Gamero, Montserrat Anton] Hosp Univ Reina Sofia, Pediat Nephrol Unit, Cordoba, Spain, [Garcia-Martinez, Elena] Hosp Univ Reina Sofia, Pediat Nephrol Unit, Cordoba, Spain, [Kratochvilova, Hana] Charles Univ Prague, Fac Med 1, Dept Pediat & Adolescent Med, Prague, Czech Republic, [Kratochvilova, Hana] Gen Univ Hosp Prague, Prague, Czech Republic, [Santra, Saikat] Birmingham Childrens Hosp NHS Fdn Trust, Dept Clin Inherited Metab Disorders, Birmingham, W Midlands, England, [Brown, Ruth M.] Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England, [Brown, Garry K.] Oxford Univ Hosp NHS Fdn Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford, England, [Ragge, Nicola] Birmingham Womens NHS Fdn Trust, West Midlands Reg Genet Serv, Clin Genet Unit, Birmingham, W Midlands, England, [Monavari, Ahmad] Temple St Childrens Univ Hosp, Natl Ctr Inherited Metab Disorders, Dublin, Ireland, [Pysden, Karen] Leeds Gen Infirm, Dept Paediat Med, Leeds, W Yorkshire, England, [Childs, Anne-Marie] Leeds Gen Infirm, Dept Paediat Med, Leeds, W Yorkshire, England, [Ravn, Kirstine] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark, [Ostergaard, Elsebet] Rigshosp, Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark, [Casey, Jillian P.] Temple St Childrens Univ Hosp, Dept Clin Genet, Dublin, Ireland, [Khan, Arif] Leicester Royal Infirm, Leicester Childrens Hosp, Leicester, Leics, England, [Chakrapani, Anupam] Great Ormond St Hosp NHS Fdn Trust, Dept Metab Med, London, England, [Vassallo, Grace] Cent Manchester Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Manchester, Lancs, England, [Simons, Cas] Univ Queensland, Inst Mol Biosci, St Lucia, Qld, Australia, [McKeever, Karl] Royal Belfast Hosp Sick Children, Dept Paediat Med, Belfast, Antrim, North Ireland, [O'Sullivan, Siobhan] Royal Belfast Hosp Sick Children, Dept Paediat Med, Belfast, Antrim, North Ireland, [Goldstein, Amy] Childrens Hosp Pittsburgh, Div Child Neurol, Pittsburgh, PA USA, [Vogt, Julie] Univ Birmingham, Sch Clin & Expt Med, Ctr Rare Dis & Personalised Med, Dept Med & Mol Genet, Birmingham, W Midlands, England, [Ragge, Nicola] Oxford Brookes Univ, Fac Hlth & Life Sci, Oxford, England, Wellcome Trust, Medical Research Council, UK NHS Specialised Services and Newcastle upon Tyne Hospitals NHS Foundation Trust, National Institute for Health Research (NIHR), Charles University, BIOCEV -Biotechnology and Biomedicine Centre of the Academy of Sciences, European Regional Development Fund, Grant Agency of the Czech Republic, Ministry of Education of the Czech Republic, Ministry of Education, Ministry of Health of the Czech Republic, MRC, National Institute for Health Research, and NIHR Newcastle Biomedical Research Centre

Subjects
Translation, Complex deficiencies, Rmnd1 mutation, Defect, Renal-failure, Encephaloneuromyopathy
Abstract

Background Mutations in the RMND1 (Required for Meiotic Nuclear Division protein 1) gene have recently been linked to infantile onset mitochondrial disease characterised by multiple mitochondrial respiratory chain defects. Methods We summarised the clinical, biochemical and molecular genetic investigation of an international cohort of affected individuals with RMND1 mutations. In addition, we reviewed all the previously published cases to determine the genotype–phenotype correlates and performed survival analysis to identify prognostic factors. Results We identified 14 new cases from 11 pedigrees that harbour recessive RMND1 mutations, including 6 novel variants: c.533C>A, p.(Thr178Lys); c.565C>T, p.(Gln189*); c.631G>A, p.(Val211Met); c.1303C>T, p.(Leu435Phe); c.830+1G>A and c.1317+1G>T. Together with all previously published cases (n=32), we show that congenital sensorineural deafness, hypotonia, developmental delay and lactic acidaemia are common clinical manifestations with disease onset under 2 years. Renal involvement is more prevalent than seizures (66% vs 44%). In addition, median survival time was longer in patients with renal involvement compared with those without renal disease (6 years vs 8 months, p=0.009). The neurological phenotype also appears milder in patients with renal involvement. Conclusions The clinical phenotypes and prognosis associated with RMND1 mutations are more heterogeneous than that were initially described. Regular monitoring of kidney function is imperative in the clinical practice in light of nephropathy being present in over 60% of cases. Furthermore, renal replacement therapy should be considered particularly in those patients with mild neurological manifestation as shown in our study that four recipients of kidney transplant demonstrate good clinical outcome to date.

Published
2016

45. Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316–2322

Author

Johnson, Matthew B., primary, De Franco, Elisa, additional, Lango Allen, Hana, additional, Al Senani, Aisha, additional, Elbarbary, Nancy, additional, Siklar, Zeynep, additional, Berberoglu, Merih, additional, Imane, Zineb, additional, Haghighi, Alireza, additional, Razavi, Zahra, additional, Ullah, Irfan, additional, Alyaarubi, Saif, additional, Gardner, Daphne, additional, Ellard, Sian, additional, Hattersley, Andrew T., additional, and Flanagan, Sarah E., additional

Published
2018
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46. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes

Author

Johnson, Matthew B., primary, De Franco, Elisa, additional, Lango Allen, Hana, additional, Al Senani, Aisha, additional, Elbarbary, Nancy, additional, Siklar, Zeynep, additional, Berberoglu, Merih, additional, Imane, Zineb, additional, Haghighi, Alireza, additional, Razavi, Zahra, additional, Ullah, Irfan, additional, Alyaarubi, Saif, additional, Gardner, Daphne, additional, Güven, Ayla, additional, Ellard, Sian, additional, Hattersley, Andrew T., additional, and Flanagan, Sarah E., additional

Published
2017
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47. Consanguinity and the Risk of Hashimoto's Thyroiditis

Author

Zaghlol, Raja Y., primary, Haghighi, Alireza, additional, Alkhayyat, Motasem M., additional, Theyab, Othman F., additional, Owaydah, Amal M., additional, Massad, Mu'taz M., additional, Atari, Mohammad A., additional, and Zayed, Ayman A., additional

Published
2017
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50. Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis

Author

Hildebrandt, Jenna, Yalcin, Ebru, Bresser, Hans-Georg, Cinel, Guzin, Gappa, Monika, Haghighi, Alireza, Kiper, Nural, Khalilzadeh, Soheila, Reiter, Karl, Sayer, John, Schwerk, Nicolaus, Sibbersen, Anke, Van daele, Sabine, Nübling, Georg, Lohse, Peter, Griese, Matthias, and Çocuk Sağlığı ve Hastalıkları

Subjects
EXPRESSION, Medicine(all), Male, Adolescent, Genotype, DELETION, Research, Infant, PHENOTYPES, CHILDREN, Pulmonary Alveolar Proteinosis, GENE, CLASSIFICATION, Young Adult, Receptors, Granulocyte-Macrophage Colony-Stimulating Factor, Child, Preschool, Mutation, Medicine and Health Sciences, Leukocytes, Mononuclear, Humans, Genetics(clinical), Pharmacology (medical), Female, Child, DIFFUSE LUNG-DISEASE
Abstract

Background Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide. Methods We identified nine children with severe diffuse interstitial lung disease due to CSF2RA mutations. Clinical course, diagnostic findings and treatment were evaluated and correlated to the genotype. Functional impairment of the intracellular JAK/pStat5 signaling pathway was assessed using flow-cytometry of peripheral mononuclear cells (PBMC) and granulocytes. Results We identified six individuals with homozygous missense/nonsense/frameshift mutations and three individuals homozygous for a deletion of the complete CSF2RA gene locus. Overall, four novel mutations (c.1125 + 1G > A, duplication exon 8, deletion exons 2–13, Xp22.3/Yp11.3) were found. Reduced STAT5 phosphorylation in PBMC and granulocytes was seen in all cases examined (n = 6). Pulmonary symptoms varied from respiratory distress to clinically silent. Early disease onset was associated with a more severe clinical phenotype (p = 0.0092). No association was seen between severity of phenotype at presentation and future clinical course or extent of genetic damage. The clinical course was favorable in all subjects undergoing whole lung lavage (WLL) treatment. Conclusions Our cohort broadens the spectrum of knowledge about the clinical variability and genotype-phenotype correlations of juvenile PAP, and illustrates the favorable outcome of WLL treatment in severely affected patients. Electronic supplementary material The online version of this article (doi:10.1186/s13023-014-0171-z) contains supplementary material, which is available to authorized users.

Published
2014

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