Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia

November 2017 in “ Expert opinion on orphan drugs ”

Toshihide Higashino, John Y.W. Lee, John A. McGrath

hypohidrotic ectodermal dysplasia HED EDA gene EDAR gene EDARADD gene WNT10A gene recombinant proteins molecular pathology DNA-based prenatal diagnosis genotype-phenotype correlations

Studysummary This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

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research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation

96 citations , June 2017 in “Nature Communications”

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

research Tissue Expansion for Correction of Alopecia in a Child with Hypohidrotic Ectodermal Dysplasia

2 citations , May 2016 in “Journal of dermatology”

This letter discusses tissue expansion for correcting alopecia in a child with hypohidrotic ectodermal dysplasia, but provides no new experimental results.

research Molecular Basis of Hypohidrotic Ectodermal Dysplasia: An Update

85 citations , August 2015 in “Journal of Applied Genetics”

This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.

research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia

35 citations , April 2014 in “American Journal of Medical Genetics”

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

research Topical Minoxidil Treatment for Congenital Alopecia in Hypohidrotic Ectodermal Dysplasia

12 citations , March 2013

This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.

A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia

17 citations , August 2012 in “Journal of Medical Genetics”

This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.

research EDA2R Is Associated With Androgenetic Alopecia

82 citations , April 2008 in “Journal of Investigative Dermatology”

EDA2R gene linked to hair loss.

Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

research Significant Correction of Disease After Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia

109 citations , October 2007 in “American Journal of Human Genetics”

This study found that postnatal treatment with recombinant EDA normalized adult teeth, improved sweating, and restored normal lacrimation in dogs with XLHED, suggesting its potential as a treatment for the condition.

research Edar Signaling in the Control of Hair Follicle Development

71 citations , November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.