A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia-Reference-Cited by-同舟云学术

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A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia

Published:2006-04-01 Issue:5 Volume:51 Page:498-502
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Tao Ran,Jin Buhe,Guo Shen Zheng,Qing Wei,Feng Guo Yin,Brooks David G.,Liu Lijun,Xu Junfu,Li Taiwei,Yan Yujuan,He Lin

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200676.pdf

Reference7 articles.

1. Bayes M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J (1998) The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 7(11):1661–1669

2. Darwin CR (1875) The variation of animals and plants under domestication, 2nd edn. John Murray, London

3. Ezer S, Bayes M, Elomaa O, Schlessinger D, Kere J (1999) Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. Hum Mol Genet 8(11):2079–2086

4. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere U, de la Chapelle A, Schlessinger D (1996) X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 13(4):409–416

5. Monreal AW, Zonana J, Ferguson B (1998) Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 63(2):380–389

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1. The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective;Frontiers in Genetics;2023-04-03

2. An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis;Molecular Genetics and Genomics;2022-11-14

3. The Human Genetics of Dental Anomalies;Global Medical Genetics;2022-02-25

4. An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis;2022-01-01

5. Understanding the impact of missense mutations on the structure and function of the EDA gene in X‐linked hypohidrotic ectodermal dysplasia: A bioinformatics approach;Journal of Cellular Biochemistry;2021-11-24

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