1 citations
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December 2020 in “International journal of molecular sciences” External factors can cause skin cancer cells that usually don't spread to grow and form tumors in mice.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
April 2008 in “Expert review of dermatology” Mutations in the P2RY5 gene cause hereditary woolly hair.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
20 citations
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January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
7 citations
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March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
28 citations
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March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
6 citations
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August 2020 in “JCRPE” A boy with a rare form of early puberty caused by a new gene mutation responded well to treatment aimed at reducing testosterone and preserving adult height.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
November 2025 in “Figshare” SQSTM1 is linked to increased risk of alopecia areata.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
41 citations
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October 2011 in “Clinical and Experimental Dermatology” G allele of AR Stul polymorphism linked to higher hair loss risk, especially in white people.
1 citations
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January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
12 citations
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March 2004 in “Journal of Investigative Dermatology” 12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
133 citations
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January 2009 in “Nature” Lgr5 and the vitamin D receptor are key in controlling skin inflammation and tumor risk in mice.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
6 citations
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July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
33 citations
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January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.