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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Marafi, Dana; Kozar, Nina; Duan, Ruizhi; Bradley, Stephen; Yokochi, Kenji; Al Mutairi, Fuad; Saadi, Nebal Waill; Whalen, Sandra; Brunet, Theresa; Kotzaeridou, Urania; Choukair, Daniela; Keren, Boris; Nava, Caroline; Kato, Mitsuhiro; Arai, Hiroshi; Froukh, Tawfiq; Faqeih, Eissa Ali; AlAsmari, Ali M; Saleh, Mohammed M; Pinto E Vairo, Filippo; Pichurin, Pavel N; Klee, Eric W; Schmitz, Christopher T; Grochowski, Christopher M; Mitani, Tadahiro; Herman, Isabella; Calame, Daniel G; Fatih, Jawid M; Du, Haowei; Coban-Akdemir, Zeynep; Pehlivan, Davut; Jhangiani, Shalini N; Gibbs, Richard A; Miyatake, Satoko; Matsumoto, Naomichi; Wagstaff, Laura J; Posey, Jennifer E; Lupski, James R; Meijer, Dies; Wagner, Matias.
Affiliation
  • Marafi D; Department of Pediatrics, Faculty of Medicine, Kuwait University, P.O. Box 24923, Safat 13110, Kuwait; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Kozar N; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.
  • Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Bradley S; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.
  • Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi 441-8570, Japan; Department of Pediatrics, Seirei Mikatahara General Hospital, Shizuoka 433-8558, Japan.
  • Al Mutairi F; Genetics and Precision Medicine Department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, P.O. Box 22490, Riyadh 11426, Kingdom of Saudi Arabia; King Abdullah International Research Center, King Saud Bin Abdulaziz University fo
  • Saadi NW; College of Medicine, University of Baghdad, Baghdad 10001, Iraq; Children Welfare Teaching Hospital, Medical City Complex, Baghdad 10001, Iraq.
  • Whalen S; UF de Génétique Clinique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, APHP, Sorbonne Université, Hôpital Trousseau, 75005 Paris, France.
  • Brunet T; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Choukair D; Division of Pediatric Endocrinology, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France.
  • Nava C; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Paris 75013, France.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan.
  • Arai H; Department of Pediatric Neurology, Bobath Memorial Hospital, Osaka 536-0023, Japan.
  • Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan.
  • Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • AlAsmari AM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • Saleh MM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
  • Schmitz CT; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
  • Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
  • Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
  • Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
  • Wagstaff LJ; Centre for Regenerative Medicine, Institute for Regeneration and Repair, University of Edinburgh, Edinburgh, UK.
  • Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 770
  • Meijer D; Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK. Electronic address: dies.meijer@ed.ac.uk.
  • Wagner M; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, Munich, Germany.
Am J Hum Genet ; 109(9): 1713-1723, 2022 09 01.
Article in En | MEDLINE | ID: mdl-35948005
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myokymia / Nerve Tissue Proteins Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2022 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Myokymia / Nerve Tissue Proteins Limits: Animals / Humans Language: En Journal: Am J Hum Genet Year: 2022 Type: Article Affiliation country: United States