(Q51778872)

12 April 2018

title

A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. (English)

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12 April 2018

author name string

Changzheng Huang

1

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12 April 2018

Qinbo Yang

2

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12 April 2018

Tie Ke

3

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12 April 2018

Haisheng Wang

4

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12 April 2018

Xu Wang

5

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12 April 2018

Jiqun Shen

6

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12 April 2018

Xin Tu

7

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12 April 2018

Jin Tian

8

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12 April 2018

Jing Yu Liu

9

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12 April 2018

Qing K Wang

10

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12 April 2018

Mugen Liu

11

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12 April 2018

publication date

26 October 2006

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12 April 2018

Journal of Human Genetics

published in

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12 April 2018

volume

51

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12 April 2018

issue

12

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12 April 2018

page(s)

1133-1137

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12 April 2018

https://scigraph.springernature.com/pub.10.1007/s10038-006-0071-8

exact match

0 references

cites work

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

1 reference

12 December 2020

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors

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12 December 2020

Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia

1 reference

12 December 2020

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

1 reference

12 December 2020

EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice

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12 December 2020

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

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12 December 2020

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

1 reference

12 December 2020

Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors.

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12 December 2020

Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

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12 December 2020

A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia

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12 December 2020

A point mutation in NEMO associated with anhidrotic ectodermal dysplasia with immunodeficiency pathology results in destabilization of the oligomer and reduces lipopolysaccharide- and tumor necrosis factor-mediated NF-kappa B activation

1 reference

12 December 2020

Ectodermal dysplasias: a clinical classification and a causal review

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12 December 2020

Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family

1 reference

12 December 2020

Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications

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12 December 2020

10.1007/S10038-006-0071-8

Identifiers

DOI

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12 April 2018

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12 April 2018