2 citations
,
August 2020 in “CRC Press eBooks” This article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.
6 citations
,
October 1998 in “Experimental Dermatology” This study found that exogenous EGF inhibited hair follicle development and decreased follicle density in both Tabby and normal mice, suggesting interactions between EGF and the Ta peptide influence normal skin phenotype.
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.
March 2013 in “Pigment Cell & Melanoma Research” This study revealed that different coat patterns in cats and cheetahs are related to variations in the aminopeptidase Q gene and endothelin-3 expression, which affects pigment production.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
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.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
11 citations
,
May 2010 in “Pigment Cell & Melanoma Research” This study reviews the genetic mechanisms behind cat coat patterns, revealing that specific loci determine tabby variations and suggesting these patterns could unravel broader developmental and evolutionary biology insights.
January 2016 in “Research Explorer (The University of Manchester)” Activating the Eda/Edar pathway improves wound healing by enhancing hair follicle growth.
30 citations
,
June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
December 1991 in “Annals of the New York Academy of Sciences” This article discusses themes in the molecular structure of hair and reports no new research findings.
854 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This review summarizes recent advances in understanding the molecular mechanisms of hair follicle formation and discusses potential future clinical applications for treating hair loss and skin tumors, but it reports no new clinical results.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
1 citations
,
April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
23 citations
,
November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” 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.
42 citations
,
September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
27 citations
,
June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
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.
86 citations
,
May 2008 in “Cytokine & growth factor reviews” This review discusses recent discoveries about the role of Eda and other TNF-related cytokines in skin appendage development and reports no new experimental results, highlighting developments since the last comprehensive summary in 2003.
43 citations
,
February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.