5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
13 citations
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November 2009 in “Journal of Dermatological Science” A gene mutation causes woolly hair in a Syrian patient.
72 citations
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May 1993 in “The Journal of Cell Biology” Trichohyalin in sheep hair follicles may help with structure and calcium binding.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
1 citations
,
July 2024 in “International Journal of Dermatology Venereology and Leprosy Sciences” Cysteine strengthens hair, and glutamine fuels hair growth.
18 citations
,
January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
8 citations
,
March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
103 citations
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February 1972 in “Proceedings of the National Academy of Sciences” A unique enzyme in guinea pig hair follicles helps form protein cross-links in hair.
118 citations
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June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
110 citations
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January 1995 in “European Journal of Neuroscience” Glycine is a key transmitter in rat spinal cord synapses, often alongside GABA.
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
5 citations
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June 2008 in “British Journal of Dermatology”
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
April 2022 in “Microbiology and Immunology” A specific DNA pattern in Malassezia restricta may be linked to hair loss in men.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.