A Novel Homozygous Nonsense Mutation in thePVRL4Gene and Expansion of Clinical Spectrum of EDSS1-Reference-Cited by-同舟云学术

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A Novel Homozygous Nonsense Mutation in thePVRL4Gene and Expansion of Clinical Spectrum of EDSS1

Published:2014-12-22 Issue:2 Volume:79 Page:92-98
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Raza Syed Irfan¹²,Nasser Dar Rashid³,Shah Anwar Ali⁴,Ahmad Wasim¹

Affiliation:

1. Department of Biochemistry; Faculty of Biological Sciences; Quaid-i-Azam University, Islamabad; Pakistan

2. Army Medical College; National University of Science & Technology (NUST); Islamabad Pakistan

3. Combined Military Hospital; Rawalpindi Pakistan

4. Shifa International Hospital; Islamabad Pakistan

Funder

Pakistan Academy of Science (PAS) and Higher Education Commission (HEC), Islamabad, Pakistan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12094/fullpdf

Reference10 articles.

1. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome;Brancati;Am J Hum Genet,2010

2. Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the Rac1 pathway and the kinetics of adherens junction formation;Fortugno;J Invest Dermatol,2014

3. Cdc42 and Rac small G proteins activated by transinteractions of nectins are involved in activation of c-Jun N-terminal kinase, but not in association of nectins and cadherin to form adherens junctions, in fibroblasts;Honda;Genes Cells,2003

4. Roles and modes of action of nectins in cell-cell adhesion;Irie;Semin Cell Dev Biol,2004

5. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1);Jelani;J Hum Genet,2011

Cited by 16 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. Therapeutic prospects of nectin-4 in cancer: applications and value;Frontiers in Oncology;2024-03-28

2. A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family;Genetics Research;2023-10-04

3. A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1;Anais Brasileiros de Dermatologia;2023-09

4. ADAM10: Possible functions in enamel development;Frontiers in Physiology;2022-11-25

5. Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review;Genes;2021-05-17

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