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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
S. Groeneweg, FS. van Geest, M. Martín, M. Dias, J. Frazer, C. Medina-Gomez, RBTM. Sterenborg, H. Wang, A. Dolcetta-Capuzzo, LJ. de Rooij, A. Teumer, A. Abaci, ELT. van den Akker, GP. Ambegaonkar, CM. Armour, I. Bacos, P. Bakhtiani, D. Barca, AJ....
Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články
Grantová podpora
Wellcome Trust - United Kingdom
R01 MH118281
NIMH NIH HHS - United States
E113377
EC | Eurostars
NLK
Directory of Open Access Journals
od 2015
Free Medical Journals
od 2010
Nature Open Access
od 2010-12-01
PubMed Central
od 2012
Europe PubMed Central
od 2012
ProQuest Central
od 2010-01-01
Open Access Digital Library
od 2015-01-01
Open Access Digital Library
od 2015-01-01
Medline Complete (EBSCOhost)
od 2012-11-01
Health & Medicine (ProQuest)
od 2010-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2010
Springer Nature OA/Free Journals
od 2010-12-01
- MeSH
- deep learning * MeSH
- dítě MeSH
- dospělí MeSH
- fenotyp * MeSH
- genetická variace MeSH
- genetické asociační studie MeSH
- genomika metody MeSH
- hormony štítné žlázy metabolismus genetika MeSH
- lidé MeSH
- mentální retardace vázaná na chromozom X genetika metabolismus MeSH
- mladiství MeSH
- mutace ztráty funkce MeSH
- předškolní dítě MeSH
- přenašeče monokarboxylových kyselin * genetika metabolismus MeSH
- stupeň závažnosti nemoci MeSH
- svalová atrofie genetika metabolismus patologie MeSH
- svalová hypotonie genetika metabolismus MeSH
- symportéry * genetika metabolismus MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
Predicting and quantifying phenotypic consequences of genetic variants in rare disorders is a major challenge, particularly pertinent for 'actionable' genes such as thyroid hormone transporter MCT8 (encoded by the X-linked SLC16A2 gene), where loss-of-function (LoF) variants cause a rare neurodevelopmental and (treatable) metabolic disorder in males. The combination of deep phenotyping data with functional and computational tests and with outcomes in population cohorts, enabled us to: (i) identify the genetic aetiology of divergent clinical phenotypes of MCT8 deficiency with genotype-phenotype relationships present across survival and 24 out of 32 disease features; (ii) demonstrate a mild phenocopy in ~400,000 individuals with common genetic variants in MCT8; (iii) assess therapeutic effectiveness, which did not differ among LoF-categories; (iv) advance structural insights in normal and mutated MCT8 by delineating seven critical functional domains; (v) create a pathogenicity-severity MCT8 variant classifier that accurately predicted pathogenicity (AUC:0.91) and severity (AUC:0.86) for 8151 variants. Our information-dense mapping provides a generalizable approach to advance multiple dimensions of rare genetic disorders.
Amsterdam Neuroscience Cellular and Molecular Mechanisms Amsterdam The Netherlands
Center for Multimodal Imaging and Genetics University of California San Diego La Jolla CA USA
Centre for Endocrinology William Harvey Research institute Queen Mary University of London London UK
Centre for Genomic Regulation Barcelona Spain
Centrul Medical Dr Bacos Cosma Timisoara Romania
Child Neurology Unit C O A L A 5 Buzzi Children's Hospital Milano Italy
Child Neurology Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy
Childrens Hospital Los Angeles Los Angeles CA USA
Department of Clinical and Biomedical Science Università degli Studi di Milano Milano Italy
Department of Endocrinology Great Ormond Street Hospital for Children London UK
Department of Endocrinology St John's Medical College Hospital Bengaluru India
Department of Genetics Kaiser Permanente Washington Seattle WA USA
Department of Genetics University of Alabama at Birmingham Birmingham AL USA
Department of Internal Medicine Erasmus University Medical Center Rotterdam The Netherlands
Department of Neurology Clinica Meds School of Medicine Universidad Finis Terrae Santiago Chile
Department of Neuropediatrics University Children's Hospital University of Zurich Zurich Switzerland
Department of Paediatric Endocrinology SRCC Children's Hospital Mumbai India
Department of Paediatric Neurology Erasmus Medical Centre Rotterdam The Netherlands
Department of Paediatrics Christian Medical College Vellore India
Department of Paediatrics Flevoziekenhuis Almere The Netherlands
Department of Pediatric Endocrinology and Diabetology University Hospital Angers France
Department of Pediatrics Hematology and Oncology Medical University of Gdańsk Gdańsk Poland
Department of Pediatrics University of California UC Davis Children's Hospital Sacramento CA USA
Department of Psychiatry and Psychotherapy University Medicine Greifswald Greifswald Germany
Department of Systems Biology Harvard Medical School Boston MA USA
Department of Translational Medicine Federico 2 University 80131 Naples Italy
Division of Endocrinology and Diabetes Children's Hospital of Philadelphia Philadelphia PA USA
Division of Pediatric Endocrinology Faculty of Medicine Dokuz Eylul University İzmir Turkey
DZHK Partner Site Greifswald Greifswald Germany
East Kent Hospitals University NHS Foundation Trust Ashford UK
Endocrinology and Diabetology Unit Bambino Gesù Children's Hospital IRCCS Rome Italy
Federal University of Rio Grande do Sul Porto Alegre RS Brazil
Genomics Institute Mary Bridge Children's Hospital MultiCare Health System Tacoma WA USA
Gottfried Preyer's Children Hospital Vienna Austria
Heim Pal National Pediatric Institute Budapest Hungary
Institute of Experimental Paediatric Endocrinology Charité Universitätsmedizin Berlin Berlin Germany
Marmara University School of Medicine Department of Pediatric Endocrinology Istanbul Turkey
Medanta Superspeciality Hospital Indore India
Medical Genetics Service Hospital de Clínicas de Porto Alegre Porto Alegre Brazil
Neurological Research Institute and Baylor College of Medicine Houston TX USA
Pediatric Center Semmelweis University Budapest Budapest Hungary
Pediatric Endocrinology Group Sabara Children's Hospital São Paulo Brazil
Personalized Medicine area Special Education Sector at DLE Grupo Pardini Rio de Janeiro Brazil
Plymouth Hospitals NHS Trust Plymouth UK
Private paediatric Neurology practice Dr A van der Walt Durbanville South Africa
Royal Children's Hospital University of Melbourne Parkville Australia
Teaching Hospital of Universidade Federal de Pelotas Pelotas Brazil
Telethon Institute of Genetics and Medicine Pozzuoli Naples Italy
University of Lille Lille France
University of Louisville Louisville KY USA
Citace poskytuje Crossref.org
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