Syntaxin 4 is essential for hearing in human and zebrafish.

Autor: Schrauwen, Isabelle, Ghaffar, Amama, Bharadwaj, Thashi, Shah, Khadim, Rehman, Sakina, Acharya, Anushree, Liaqat, Khurram, Lin, Nicole S, Everard, Jenna L, Khan, Anwar, Ahmed, Zubair M, Ahmad, Wasim, Riazuddin, Saima, Leal, Suzanne M

Publikováno v: Human Molecular Genetics; Apr2023, Vol. 32 Issue 7, p1184-1192, 9p

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Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Autor: Thomas HB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Demain LAM; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Cabrera-Orefice A; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany.; Institute of Biochemistry, Medical Faculty, Justus-Liebig-University, 35392 Giessen, Germany., Schrauwen I; Department of Translational Neurosciences, University of Arizona College of Medicine Phoenix, Phoenix, AZ, USA., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Rea A; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Bharadwaj T; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA., Smith TB; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Oláhová M; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., Thompson K; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK., He L; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Kaur N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Abukhalid M; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan., Rehman S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Riazuddin S; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Smith JM; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Melbourne, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia., Carrera S; Genome Editing Unit Core Facility, Faculty of Biology, Medicine and Health, University of Manchester, UK., Yue WW; Newcastle University Biosciences Institute, Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK., Munro KJ; Manchester Centre for Audiology and Deafness (ManCAD), School of Health Sciences, University of Manchester, Manchester, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Jamieson P; Department of Radiology, Manchester University Hospital NHS Foundation Trust, Manchester, M13 9PW, UK., Ahmed ZM; Department of Otorhinolaryngology - Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, United States.; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Leal SM; Center for Statistical Genetics, Department of Neurology, Gertrude H. Sergievsky Center, Columbia University Medical Center, New York, NY 10032, USA.; Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Center, New York, NY., Taylor RW; Mitochondrial Research Group, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK., Wittig I; Centre for Functional Proteomics, Institute for Cardiovascular Physiology, Medical Faculty, Goethe University, 60596 Frankfurt am Main, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Rhein Main, 60596 Frankfurt am Main, Germany., O'Keefe RT; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 11. Date of Electronic Publication: 2024 Oct 11.