X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein (Q24310290)

GOA release 2020-03-11

ectodermal dysplasia

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hypohidrotic ectodermal dysplasia

inferred from title

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J Kere

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Albert de la Chapelle

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object named as

A de la Chapelle

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author name string

A K Srivastava

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O Montonen

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J Zonana

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N Thomas

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B Ferguson

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F Munoz

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D Morgan

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A Clarke

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P Baybayan

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E Y Chen

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S Ezer

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U Saarialho-Kere

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D Schlessinger

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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publication date

August 1996

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language of work or name

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13

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issue

4

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page(s)

409-16

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cites work

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Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

20 April 2017

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The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures

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Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia

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Epithelial immaturity and multiorgan failure in mice lacking epidermal growth factor receptor

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Ectodermal dysplasias: a clinical classification and a causal review

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Clinical Spectrum of Anhidrotic Ectodermal Dysplasia

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Gene effect in carriers of anhidrotic ectodermal dysplasia

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Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12

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7 January 2021

Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome)

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7 January 2021

X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization

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7 January 2021

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker

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X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female

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X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

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Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA).

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7 January 2021

An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs

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The structure and insertion of integral proteins in membranes

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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Two new collagen subgroups: membrane-associated collagens and types XV and XVII.

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Cloning of a novel bacteria-binding receptor structurally related to scavenger receptors and expressed in a subset of macrophages

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Splicing of messenger RNA precursors

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mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.

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Nonsense mutations in the human beta-globin gene affect mRNA metabolism

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LEF-1, a gene encoding a lymphoid-specific protein with an HMG domain, regulates T-cell receptor alpha enhancer function [corrected]

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Development of several organs that require inductive epithelial-mesenchymal interactions is impaired in LEF-1-deficient mice

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A totally sex-linked gene in the house mouse

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Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome).

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7 January 2021

Molecular genetic analysis of the Ta25H deletion: evidence for additional deleted loci

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7 January 2021

The secret life of the hair follicle

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Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach

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Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia

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Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

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Cell-matrix interactions modulate interstitial collagenase expression by human keratinocytes actively involved in wound healing

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7 January 2021