Results 21 to 30 of about 6,864 (183)

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. [PDF]

Mol Genet Genomic Med, 2023
Hypohidrotic ectodermal dysplasia (HED) mainly results from gene mutations in the EDA/EDAR/NF‐κB pathway. Function analysis of the mutations in the collagen domain of ectodysplasin A (EDA)result in HED has been rarely studied.
Liu X, Zhao Y, Zhu J.
europepmc   +2 more sources

Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern. [PDF]

Diagnostics (Basel), 2022
The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic gene variants.
Liu H, Su L, Liu H, Zheng J, Feng H, Liu Y, Yu M, Han D.   +7 more
europepmc   +2 more sources

An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Cureus
We report a case of a patient with genetic sequencing-confirmed X-linked hypohidrotic ectodermal dysplasia without the typical characteristic hair growth abnormalities with the disorder.
Nardone AJ, Kirwin DS, Lyford WH.
europepmc   +2 more sources

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy [PDF]

Allergy, Asthma & Clinical Immunology, 2021
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey   +11 more
doaj   +2 more sources

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines. [PDF]

JAAD Case Rep, 2022
EDA: ectodysplasin A1 gene EDAR: ectodysplasin A receptor gene EDARADD: ectodysplasin A receptor-associated death domain gene HED: hypohidrotic ectodermal dysplasia IKBKG: inhibitor of nuclear factor kappa B kinase regulatory subunit gamma JCBL ...
Dubois A, Fostier W, Sampson J, Durham J, Rajan N.   +4 more
europepmc   +2 more sources

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. [PDF]

Acta Vet Scand, 2022
Background Hypohidrotic ectodermal dysplasia (HED) is a congenital syndrome of mammals affecting organs and tissues of ectodermal origin characterized by absence or hypoplasia of hair, teeth, and eccrine glands.
Capuzzello G, Jacinto JGP, Häfliger IM, Chapman GE, Martin SS, Viora L, Jonsson NN, Drögemüller C.   +7 more
europepmc   +2 more sources

Hypohidrotic ectodermal dysplasia: A case report with review and latest updates. [PDF]

J Oral Maxillofac Pathol, 2022
Ectodermal dysplasia represents a group of inherited conditions in which two or more ectodermally derived anatomical structures fail to develop resulting in most notably anhidrosis/hypohidrosis, hypotrichosis and hypodontia.
Bagdey SP, Moharil RB, Dive A, Bodhade A.   +3 more
europepmc   +2 more sources

A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child. [PDF]

Cureus, 2022
Ectodermal dysplasias (EDs) encompass a large group of inherited disorders that affects two or more ectodermally derived structures. Hair, sweat glands, teeth, and nails are the most common ectodermal derivates affected.
Shah SAY, Hassan WU, Sajjad W, Shabbir UB, Raza A.   +4 more
europepmc   +2 more sources

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics. [PDF]

Front Genet, 2022
Background: Ectodysplasin A (EDA) variations are major pathogenic factors for hypohidrotic ectodermal dysplasia (HED), the most common form of ectodermal dysplasia (ED), characterized by hypotrichosis, hypohidrosis, hypodontia, and other oral features ...
Wang Y, Zhang C, Zhou B, Hui L, Zheng L, Chen X, Wang S, Yang L, Hao S, Zhang Q.   +9 more
europepmc   +2 more sources

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant? [PDF]

Italian Journal of Pediatrics, 2021
Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease.
Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello   +5 more
doaj   +2 more sources