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THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Broly, Martin; Polevoda, Bogdan V; Awayda, Kamel M; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S; Leon, Alberta; van Loon, Rosa L E; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Lim, Sze Chern; Pais, Lynn S; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; O'Connell, Mitchell R.
Affiliation
  • Broly M; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France.
  • Polevoda BV; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA.
  • Awayda KM; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA.
  • Tong N; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA.
  • Lentini J; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA.
  • Besnard T; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France.
  • Deb W; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France.
  • O'Rourke D; Department of Neurology, Children's Health Ireland at Temple Street, Dublin, D01 XD99, Ireland.
  • Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK.
  • Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK.
  • Almannai M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh 12231, Saudi Arabia.
  • Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Abdulwahab F; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Shamseldin H; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.
  • Al-Tala S; Pediatrics Department, Armed Forces Hospital, Khamis Mushait 62413, Saudi Arabia.
  • Alkuraya FS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
  • Leon A; Research & Innovation (R&I Genetics) Srl, Genetic Laboratory, 35127 Padua, Italy.
  • van Loon RLE; Department of Genetics, University of Utrecht, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
  • Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara 44121, Italy.
  • Sanchini M; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara 44121, Italy.
  • Bigoni S; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara 44121, Italy.
  • Ciorba A; ENT & Audiology Unit, Department of Neurosciences, University Hospital of Ferrara, 44124 Cona FE, Italy.
  • van Bokhoven H; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 HR Nijmegen, the Netherlands; Department of Human Genetics, Radboud University Medical Center, 6525 HR Nijmegen, the Netherlands.
  • Iqbal Z; Department of Neurology, Oslo University Hospital, 0188 Oslo, Norway.
  • Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Al-Murshedi F; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat 123, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Ganesh A; Department of Ophthalmology, Pediatric Ophthalmology and Ocular Genetics Unit, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Al-Mamari W; Department of Child Health, Sultan Qaboos University Hospital, Muscat 123, Oman.
  • Lim SC; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.
  • Pais LS; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Brown N; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, VIC 3052, Australia.
  • Riazuddin S; Laboratory of Molecular Genetics, Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA; Pakistan Institute of Medical Sciences, Shaheed Zulfiqar Ali Bhutto Medical University, Sector G-8/3, Islamabad, Pakistan.
  • Bézieau S; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France.
  • Fu D; Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA.
  • Isidor B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France.
  • Cogné B; Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44093 Nantes, France. Electronic address: benjamin.cogne@chu-nantes.fr.
  • O'Connell MR; Department of Biochemistry and Biophysics, Center for RNA Biology, University of Rochester, Rochester, NY 14642, USA. Electronic address: mitchell_oconnell@urmc.rochester.edu.
Am J Hum Genet ; 109(4): 587-600, 2022 04 07.
Article de En | MEDLINE | ID: mdl-35196516
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines de liaison à l'ARN / Troubles du développement neurologique / Déficience intellectuelle Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Am J Hum Genet Année: 2022 Type de document: Article Pays d'affiliation: France Pays de publication: États-Unis d'Amérique
Texte intégral
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Protéines de liaison à l'ARN / Troubles du développement neurologique / Déficience intellectuelle Type d'étude: Prognostic_studies Limites: Humans Langue: En Journal: Am J Hum Genet Année: 2022 Type de document: Article Pays d'affiliation: France Pays de publication: États-Unis d'Amérique