166 citations
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July 1999 in “American Journal Of Pathology” The hairless (hr) gene is essential for normal hair follicle function and its mutation leads to hair loss.
27 citations
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May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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.
γδTregs may help treat autoimmune diseases like alopecia areata by promoting hair regrowth and reducing immune attacks.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
1 citations
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November 2025 in “Aging Cell” EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
1 citations
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September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
January 2011 in “Guangdong Medical Journal” Low Vitamin D receptor levels in hair follicles may contribute to alopecia areata.
25 citations
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August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
15 citations
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December 2017 in “Journal of Investigative Dermatology” No strong genetic link to other skin conditions was found, but some genetic factors may make people more likely to get seborrheic dermatitis.
1 citations
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August 2023 in “Journal of Investigative Dermatology” Farudodstat may help treat alopecia areata by protecting hair follicles.
Keratinocytes can reverse the effects of the GNAQ oncogene, inhibiting melanoma cell growth.
April 2017 in “Journal of Investigative Dermatology” Reduced Stx17 expression may contribute to Alopecia Areata.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
January 2024 in “Genetics in Medicine Open” A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
7 citations
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January 2016 in “Clinical Hemorheology and Microcirculation” AGA patients have higher heart disease risk.
11 citations
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July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
May 2023 in “The Journal of Immunology” Alopecia areata involves unique activation of certain immune cells.
April 2023 in “Journal of Investigative Dermatology” IL-17 plays a key role in severe hair loss in chronic alopecia areata.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.