4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
25 citations
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April 2019 in “Animals” KRTAP28-1 gene can help breed sheep with finer wool.
1 citations
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November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
April 2023 in “Journal of Investigative Dermatology” IL-9/IL-9R signaling can negatively affect human hair growth and may be a target for treating hair loss conditions.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
53 citations
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
43 citations
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November 2018 in “Nature Communications” Genetic variations affecting skin structure play a key role in severe acne.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
245 citations
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January 1998 in “Genes & Development” Hoxc13 gene is essential for hair, nail, and papilla development.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
28 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” 848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
13 citations
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January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
106 citations
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March 2013 in “Nature Communications” A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
20 citations
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May 2007 in “Asian-Australasian Journal of Animal Sciences” KAP8.2 gene variations affect cashmere quality in goats.
July 2025 in “Journal of Investigative Dermatology”
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
76 citations
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May 2011 in “Cell death and differentiation” A20 protein is crucial for normal skin and hair development.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
May 2021 in “Experimental Cell Research” FOXC1 boosts SFRP1 in hair loss, suggesting new treatments.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
5 citations
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November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.