Literature DB >> 25846883

A novel missense mutation in collagenous domain of EDA gene in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.

Daxu Li1, Ran Xu, Fumeng Huang, Biyuan Wang, Yu Tao, Zijian Jiang, Hairui Li, Jianfeng Yao, Peng Xu, Xiaokang Wu, Le Ren, Rui Zhang, John R Kelsoe, Jie Ma.   

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Year:  2015        PMID： 25846883     DOI： 10.1007/s12041-015-0474-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  19 in total

1.  Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Authors:  P Schneider; S L Street; O Gaide; S Hertig; A Tardivel; J Tschopp; L Runkel; K Alevizopoulos; B M Ferguson; J Zonana
Journal:  J Biol Chem       Date:  2001-03-14       Impact factor: 5.157

2.  Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.

Authors:  Marie-Claire Vincent; Mireille Cossée; Pierre Vabres; Fiona Stewart; Dominique Bonneau; Patrick Calvas
Journal:  Arch Dermatol       Date:  2002-09

3.  Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

Authors:  Ying Liu; Xiaoyan Yu; Lei Wang; Chang Li; Stephen Archacki; Changzheng Huang; Jing Yu Liu; Qing Wang; Mugen Liu; Zhaohui Tang
Journal:  Gene       Date:  2011-10-10       Impact factor: 3.688

4.  Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

Authors:  A W Monreal; J Zonana; B Ferguson
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

5.  Identification of a novel death domain-containing adaptor molecule for ectodysplasin-A receptor that is mutated in crinkled mice.

Authors:  Minhong Yan; Zemin Zhang; John Ridgway Brady; Sarah Schilbach; Wayne J Fairbrother; Vishva M Dixit
Journal:  Curr Biol       Date:  2002-03-05       Impact factor: 10.834

6.  A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia.

Authors:  S A Wisniewski; W H Trzeciak
Journal:  Br J Dermatol       Date:  2012-06       Impact factor: 9.302

7.  X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Authors:  F Clauss; N Chassaing; A Smahi; M C Vincent; P Calvas; M Molla; H Lesot; Y Alembik; S Hadj-Rabia; C Bodemer; M C Manière; M Schmittbuhl
Journal:  Clin Genet       Date:  2010-02-24       Impact factor: 4.438

Review 8.  Ectodermal dysplasias: not only 'skin' deep.

Authors:  M Priolo; M Silengo; M Lerone; R Ravazzolo
Journal:  Clin Genet       Date:  2000-12       Impact factor: 4.438

9.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
Journal:  Am J Hum Genet       Date:  2000-10-24       Impact factor: 11.025

10.  Conversion of membrane-bound Fas(CD95) ligand to its soluble form is associated with downregulation of its proapoptotic activity and loss of liver toxicity.

Authors:  P Schneider; N Holler; J L Bodmer; M Hahne; K Frei; A Fontana; J Tschopp
Journal:  J Exp Med       Date:  1998-04-20       Impact factor: 14.307
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  3 in total

1.  Phenotypic Features and Salivary Parameters in Patients with Ectodermal Dysplasia: Report of Three Cases.

Authors:  Mônica Fernandes Gomes; Luigi Giovanni Bernardo Sichi; Lilian Chrystiane Giannasi; José Benedito Oliveira Amorim; João Carlos da Rocha; Cristiane Yumi Koga-Ito; Miguel Angel Castillo Salgado
Journal:  Case Rep Dent       Date:  2018-03-20

2.  Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.

Authors:  Binghui Zeng; Xue Xiao; Sijie Li; Hui Lu; Jiaxuan Lu; Ling Zhu; Dongsheng Yu; Wei Zhao
Journal:  Genes (Basel)       Date:  2016-09-19       Impact factor: 4.096

3.  Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Authors:  Yang Han; Xiuli Wang; Liyun Zheng; Tingting Zhu; Yuwei Li; Jiaqi Hong; Congcong Xu; Peiguang Wang; Min Gao
Journal:  Front Genet       Date:  2020-02-04       Impact factor: 4.599
  3 in total

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