47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
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.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
September 2023 in “Plant journal” A protein called GIS3 is important for the growth of root hairs in Arabidopsis by controlling two genes with the help of certain growth signals.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
83 citations
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January 2023 in “Development” Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
January 2026 in “PLoS Biology” ARHGEF3 is essential for proper hair follicle development in mice.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
4 citations
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January 2006 in “PubMed” DHT deficiency may disrupt rat epididymis function by affecting estrogen receptors.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
2 citations
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July 2019 in “PeerJ” Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.
1 citations
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January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
4 citations
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May 2006 in “médecine/sciences” The hairless gene is crucial for hair health, and its mutations cause hair loss.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
3 citations
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September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
25 citations
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December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
10 citations
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September 2022 in “Cellular and Molecular Life Sciences” SOX9 is essential for the development of various organs and hair follicles.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
5 citations
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July 2014 in “Molecular Biology Reports” 78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
37 citations
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August 2015 in “The Journal of Steroid Biochemistry and Molecular Biology” The vitamin D receptor can regulate genes and affect hair and hormone levels without its usual activator.
March 2018 in “Suez Canal University Medical Journal” NKG2D gene polymorphism doesn't affect SLE risk but may influence symptoms like rash and hair loss.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.