Cargando…

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance

Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition characterized by abnormal development of ectodermal structures. XLHED is defined by the triad of hypotrichosis, hypo- or anhidrosis, and hypo- or...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gökdere, Sare, Schneider, Holm, Hehr, Ute, Willen, Laure, Schneider, Pascal, Maier-Wohlfart, Sigrun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9339965/ https://www.ncbi.nlm.nih.gov/pubmed/35923710 http://dx.doi.org/10.3389/fgene.2022.934395

Ejemplares similares

Erratum: Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance
Publicado: (2023)

Congenital Nail Disorders among Children with Suspected Ectodermal Dysplasias
por: Maier-Wohlfart, Sigrun, et al.
Publicado: (2022)

No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
por: Körber, Laura, et al.
Publicado: (2021)

Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update
por: Peschel, Nicolai, et al.
Publicado: (2022)

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders
por: Schneider, Holm
Publicado: (2022)

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
por: Han, Yang, et al.
Publicado: (2020)

Hypohidrotic Ectodermal Dysplasia and Immunodeficiency with Coincident NEMO and EDA Mutations
por: Keller, Michael D., et al.
Publicado: (2011)

Early recognition of hypohidrotic ectodermal dysplasia
por: Schneider, Holm
Publicado: (2012)

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study
por: Wohlfart, Sigrun, et al.
Publicado: (2020)

A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia
por: Wang, Xu, et al.
Publicado: (2020)

Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers
por: Yin, Wei, et al.
Publicado: (2013)

Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
por: Salas-Alanis, Julio C, et al.
Publicado: (2015)

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
por: Alksere, Baiba, et al.
Publicado: (2021)

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype
por: Waluk, Dominik P., et al.
Publicado: (2016)

Correction: Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers
por: Yin, Wei, et al.
Publicado: (2013)

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA
por: O’Toole, Donal, et al.
Publicado: (2021)

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
por: Schneider, Holm, et al.
Publicado: (2023)

Medical sequencing of de novo ectodermal dysplasia in identical twins and evaluation of the potential eligibility for recombinant EDA therapy
por: Modesto, Adriana, et al.
Publicado: (2017)

A novel frameshift mutation in the EDA gene in an Iranian patient affected by X-linked hypohidrotic ectodermal dysplasia
por: Rahbaran, Marzieh, et al.
Publicado: (2019)

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor‐binding capability
por: Liu, Xingyu, et al.
Publicado: (2022)

Molecular basis of hypohidrotic ectodermal dysplasia: an update
por: Trzeciak, Wieslaw H., et al.
Publicado: (2015)

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients
por: Zeng, Binghui, et al.
Publicado: (2016)

Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
por: Zeng, Binghui, et al.
Publicado: (2017)

A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia
por: Vasiliadis, Danae, et al.
Publicado: (2018)

Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia
por: Schneider, Holm, et al.
Publicado: (2014)

Lung and eye involvement in X-linked hypohidrotic ectodermal dysplasia
por: Dietz, J, et al.
Publicado: (2012)

Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report
por: Mohd Jais, Mohammad Fahim, et al.
Publicado: (2023)

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement
por: Schneider, Holm, et al.
Publicado: (2023)

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?
por: Tumminello, Mario, et al.
Publicado: (2021)

Ectodysplasin A1 Deficiency Leads to Osteopetrosis-like Changes in Bones of the Skull Associated with Diminished Osteoclastic Activity
por: Schweikl, Christine, et al.
Publicado: (2022)

Pathogenesis of ectodermal dysplasia
por: Thesleff, Irma
Publicado: (2012)

Hypohidrotic Ectodermal Dysplasia
por: Bansal, Manish, et al.
Publicado: (2012)

Hypohidrotic ectodermal dysplasia
por: Agarwal, Saurabh, et al.
Publicado: (2012)

Hypohidrotic ectodermal dysplasia
por: Shanbhag, Vagish Kumar L.
Publicado: (2015)

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia
por: Capuzzello, Giovanni, et al.
Publicado: (2022)

Increased risk of chronic fatigue and hair loss following COVID-19 in individuals with hypohidrotic ectodermal dysplasia
por: Hennig, Verena, et al.
Publicado: (2021)

Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
por: Escouflaire, Clémentine, et al.
Publicado: (2019)

Ectodermal dysplasia with true anodontia
por: Bala, Madhu, et al.
Publicado: (2011)

Dermatologic aspects of ectodermal dysplasias
por: Itin, Peter H
Publicado: (2012)

Animal models of ectodermal dysplasia
por: Leeb, Tosso
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_hb0g1l24o5tfdlir1u956s7hn5