The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia

Published:2016-05-11 Issue:1 Volume:31 Page:e17-e20
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Chaudhary A.K.¹,Mohapatra R.²,Nagarajaram H.A.²,Ranganath P.³⁴,Dalal A.³,Dutta A.⁵,Danda S.⁵,Girisha K.M.⁶,Bashyam M.D.¹

Affiliation:

1. Laboratory of Molecular Oncology; Hyderabad India

2. Laboratory of Computational biology; Hyderabad India

3. Diagnostics Division; Centre for DNA Fingerprinting and Diagnostics; Hyderabad India

4. Nizam's Institute of Medical Sciences; Hyderabad India

5. Christian Medical College; Vellore India

6. Department of Medical Genetics; Kasturba Medical College; Manipal University; Manipal India

Funder

Department of Biotechnology, Government of India

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13587/fullpdf

Reference10 articles.

1. EDA signaling and skin appendage development;Cui;Cell Cycle,2006

2. Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes;RamaDevi;Br J Dermatol,2008

3. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm;Kumar;Nat Protoc,2009

4. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

5. Hansa: an automated method for discriminating disease and neutral human nsSNPs;Acharya;Hum Mutat,2012

Cited by 8 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. EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes;Cell & Bioscience;2023-07-10

2. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14;Human Genetics and Genomics Advances;2023-04

3. Ectodysplasin pathogenic variants affecting the furin‐cleavage site and unusual clinical features define X‐linked hypohidrotic ectodermal dysplasia in India;American Journal of Medical Genetics Part A;2021-12-04

4. A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family;Molecular Genetics & Genomic Medicine;2021-05-04

5. Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis;Molecular Genetics & Genomic Medicine;2020-11-18