694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
8 citations
,
January 2022 in “Current topics in developmental biology/Current Topics in Developmental Biology” 75 citations
,
January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
19 citations
,
January 2015 in “Development” Hoxc8 gene helps start mammary gland development by controlling specific signals.
25 citations
,
November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
December 2025 in “Toxicologic Pathology” The skin protects the body, helps with immunity, senses, temperature control, and makes vitamin D.
6 citations
,
January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
243 citations
,
October 2003 in “Developmental biology” Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
5 citations
,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Researchers identified new cell types and genes in early hair follicle development.
76 citations
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May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
November 2022 in “Research Square (Research Square)” Keratin-associated proteins have ancient origins and were used for different purposes before being adapted for hair in mammals.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
35 citations
,
April 2014 in “American Journal of Medical Genetics” Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
117 citations
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
August 2019 in “Journal of Investigative Dermatology” Frog skin cells need the protein desmoplakin for proper development and cell layer formation.
98 citations
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June 2008 in “Human mutation” A genetic change in the EDAR gene causes the unique hair traits found in East Asians.
1 citations
,
February 2017 in “International journal of anatomy and research” Understanding fetal skin development helps diagnose congenital skin diseases.
June 1997 in “Australasian Journal of Dermatology” Researchers found new hair and nail genes, how hair reacts to UV, differences in white and pigmented hair growth, nerve changes in alopecia, treatments for baldness and alopecia, a toenail condition linked to a genetic disorder, and that nail fungus is more common in people with psoriasis.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
18 citations
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June 2018 in “Journal of Dental Research” Msx2 is essential for proper enamel formation by preventing abnormal cell transformation.
11 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” Taking Propecia might lead to the development of cataracts.
6 citations
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August 1991 in “Pediatric Clinics of North America” The document concludes that various hair and scalp disorders in children have specific treatments and proper diagnosis is essential.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
15 citations
,
July 2015 in “Developmental Dynamics” Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.