Expanding the phenotype of <scp> <i>TAB2</i> </scp> variants and literature review-Reference-Cited by-同舟云学术

Expanding the phenotype of TAB2 variants and literature review

Published:2022-08-16 Issue:11 Volume:188 Page:3331-3342
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Woods Emily¹^ORCID,Marson Imogen²^ORCID,Coci Emanuele³⁴,Spiller Michael⁵,Kumar Ajith⁶,Brady Angela⁷,Homfray Tessa⁸,Fisher Richard⁹,Turnpenny Peter¹⁰,Rankin Julia¹⁰,Kanani Farah¹¹^ORCID,Platzer Konrad¹²,Ververi Athina⁶,Emmanouilidou Eleftheria¹³,Bourboun Nourxan¹⁴,Giannakoulas George¹⁴^ORCID,Balasubramanian Meena¹¹¹⁵^ORCID

Affiliation:

1. Department of Paediatrics Sheffield Children's Hospital NHS Foundation Trust Sheffield UK

2. Medical School University of Sheffield Sheffield UK

3. Department of Pediatrics Prignitz Hospital, Brandenburg Medical School Prignitz Germany

4. Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark

5. Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

6. Department of Clinical Genetics Great Ormond Street Hospital London UK

7. Clinical Genetics Service Northwick Park Hospital London UK

8. Clinical Genetics Service St George's Hospital London UK

9. Northern Genetics Service Newcastle University Hospital NHS Trust Newcastle UK

10. Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Trust Exeter UK

11. Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

12. Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

13. Department of Paediatrics General Hospital of Kavala Kavala Greece

14. Cardiology Department AHEPA University Hospital, Aristotle University of Thessaloniki Thessaloniki Greece

15. Department of Oncology & Metabolism University of Sheffield Sheffield UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62949

Reference19 articles.

1. Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation inTAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

2. Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

3. A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

4. 6q25.1 (TAB2 ) microdeletion syndrome: Congenital heart defects and cardiomyopathy

5. Ellard S. Baple E.L. CallawayA. Berry I. Forrester N. Turnbull C. Owens M. Eccles D.M. Abbs S. Scott R. Deans Z.C. Lester T. Campbell J. Newman W.G(2020).ACGS best practice guidelines for variant classification in rare disease 2020:https://www.acgs.uk.com/media/11631/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf

Cited by 2 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. TAK1 operates at the primary cilium in non-canonical TGFB/BMP signaling to control heart development;2024-05-08

2. Myxomatous degeneration of cardiac valves in a fetus with 6q25.1 (TAB2) deletion;Cardiology in the Young;2024-01-03