TLDR Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
The document discussed recent advances in understanding the molecular basis of hypohidrotic ectodermal dysplasia (HED), focusing on mutations in genes related to the tumor necrosis factor α (TNFα) signaling pathway. These proteins played a crucial role in signal transduction from ectoderm to mesenchyme during fetal development, essential for the differentiation of structures like sweat glands, teeth, hair, skin, and nails. The review covered new insights into the structure and function of TNFα-related signaling components, the impact of gene mutations, and future research directions to further elucidate the origins of HED.
17 citations
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August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
38 citations
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February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
89 citations
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August 2008 in “Human genetics” The EDAR gene greatly affects hair thickness in Asian populations.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
109 citations
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October 2007 in “American Journal of Human Genetics” Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
479 citations
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January 2005 in “BioEssays” Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
