Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia-Reference-Cited by-同舟云学术

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

Published:2017-06-01 Issue:7 Volume:38 Page:764-777
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Astuti Dewi¹,Sabir Ataf²,Fulton Piers²,Zatyka Malgorzata¹,Williams Denise²,Hardy Carol²,Milan Gabriella³,Favaretto Francesca³,Yu-Wai-Man Patrick⁴⁵⁶⁷,Rohayem Julia⁸,López de Heredia Miguel⁹¹⁰,Hershey Tamara¹¹,Tranebjaerg Lisbeth¹²¹³,Chen Jian-Hua¹⁴,Chaussenot Annabel¹⁵,Nunes Virginia⁹¹⁰¹⁶,Marshall Bess¹⁷,McAfferty Susan¹⁸,Tillmann Vallo¹⁹,Maffei Pietro³,Paquis-Flucklinger Veronique¹⁵,Geberhiwot Tarekign²⁰,Mlynarski Wojciech²¹,Parkinson Kay²²,Picard Virginie²³,Bueno Gema Esteban²⁴,Dias Renuka²⁵,Arnold Amy²⁵,Richens Caitlin²⁵,Paisey Richard²⁶,Urano Fumihiko²⁷,Semple Robert¹⁴^ORCID,Sinnott Richard²⁸,Barrett Timothy G.¹²⁵^ORCID

Affiliation:

1. Institute of Cancer and Genomic Sciences; College of Medical and Dental Sciences; University of Birmingham; Edgbaston Birmingham UK

2. West Midlands Regional Genetics Service; Birmingham Women's and Children's Hospital; Edgbaston Birmingham UK

3. Department of Medicine (DIMED); University of Padua; Padua Italy

4. Wellcome Trust Centre for Mitochondrial Research; Institute of Genetic Medicine; Newcastle University; Newcastle upon Tyne UK

5. Newcastle Eye Centre; Royal Victoria Infirmary; Newcastle upon Tyne UK

6. NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology; London UK

7. Cambridge Centre for Brain Repair; Department of Clinical Neurosciences; University of Cambridge; Cambridge UK

8. Centrum für Reproduktionsmedizin und Andrologie; WHO Kollaborationszentrum; EAA; Ausbildungszentrum; Universitätsklinikum Münster; Münster Germany

9. IDIBELL; Hospital Duran i Reynals; 3ª Planta; Gran Via de L'Hospitalet; 199; E-08908- L'Hospitalet de Llobregat; Barcelona Spain

10. Centro de Investigación en Red de Enfermedades Raras (CIBERER); U-730; Hospital Duran i Reynals; 3ª Planta, Gran Via de L'Hospitalet, 199, E-08908-L'Hospitalet de Llobregat Barcelona Spain

11. Departments of Psychiatry; Neurology and Radiology; Washington University School of Medicine; St. Louis Missouri

12. Department of Clinical Genetics; University Hospital/The Kennedy Centre; Glostrup Denmark

13. Institute of Clinical Medicine; The Panum Institute; University of Copenhagen; Copenhagen Denmark

14. University of Cambridge Metabolic Research Laboratories; Wellcome Trust-MRC Institute of Metabolic Science; Box 289 Addenbrooke's Hospital Cambridge UK

15. School of Medicine, IRCAN, UMR CNRS 7284/INSERM U1081/UNS; Nice Sophia-Antipolis University; Nice France

16. Genetics Section, Physiological Sciences Department, Health Sciences and Medicine Faculty; University of Barcelona

17. Department of Pediatrics; Washington University School of Medicine; One Children's Place St. Louis Missouri

18. IT Services; University of Glasgow; Glasgow UK

19. Tartu University Children's Hospital; Tartu Estonia

20. Department of Metabolism; University Hospitals Birmingham NHS Foundation Trust; Queen Elizabeth Hospital; Queen Elizabeth Medical Centre; Birmingham UK

21. Department of Paediatrics; Medical University of Lodz; Lodz Poland

22. Alström Syndrome Europe; Woodpecker Cottage Paignton S. Devon UK

23. Association syndrome de Wolfram; Residence Gauguin Grand-Champ France

24. Unidad de Géstion Clínica de Garrucha; Área de Gestión Sanitaria Norte de Almería, Avd. Dra. Parra Almería Spain

25. Birmingham Women's and Children's Hospital; Birmingham UK

26. Diabetes Research Unit; Horizon Centre; Torbay Hospital NHS Foundation Trust; Devon UK

27. Department of Medicine; Division of Endocrinology, Metabolism, and Lipid Research; Washington University School of Medicine; St. Louis Missouri

28. Department of information and computing systems; The University of Melbourne; Parkville Australia

Funder

Wellcome Trust

European Union (DG-SANCO Grant Agreement

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference48 articles.

1. Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach;Alkorta-Aranburu;Molecular Genetics and Metabolism,2014

2. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree;Alstrom;Acta Psychiatrica Et Neurologica Scandinavica,1959

3. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2;Amr;The American Journal of Human Genetics,2007

4. Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation;Bonnycastle;Diabetes,2013

5. Curating gene variant databases (LSDBs): Toward a universal standard;Celli;Human Mutation,2012

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. AWFS1variant disrupting acceptor splice site uncovers the impact of alternative splicing on ER-stress independent β cell apoptosis in a patient with Wolfram syndrome;2023-12-30

2. High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes;The Journal of Clinical Endocrinology & Metabolism;2023-11-01

3. Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review;Brain Sciences;2023-07-05

4. Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum;Survey of Ophthalmology;2023-07

5. Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis;Journal of Medical Genetics;2023-06-15