57 citations
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February 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Dihydrotestosterone increases the activity of an enzyme in pubic skin cells that converts testosterone to dihydrotestosterone.
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.
25 citations
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October 2000 in “Gene” Gene regulatory regions evolve faster than protein coding regions, allowing new gene relationships without changing transcription factors.
70 citations
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December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
January 2022 in “Skin Pharmacology and Physiology” Higher STAT3 levels are found in hair loss areas, but not linked to hair loss severity.
2 citations
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January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
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.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
16 citations
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January 2016 in “Journal of Investigative Dermatology” Mice without the IL-6 gene had more hair growth after injury due to higher activity of a related protein, Stat3.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
26 citations
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February 2020 in “Frontiers in genetics” The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
2 citations
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April 2025 in “Frontiers in Genetics” The ASIP gene is crucial for determining cattle coat color.
5 citations
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July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
35 citations
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June 2012 in “PloS one” Keratin 15 expression in skin cells is regulated by two mechanisms involving PKC/AP-1 and FOXM1.
87 citations
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September 2019 in “Nature Communications” SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
12 citations
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May 2003 in “Journal of dermatological science” Hsc70 protein may influence hair growth by responding to androgens.
8 citations
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March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
9 citations
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December 2002 in “Novartis Foundation Symposium” LEF1 is essential for the development of airway glands and is regulated by the Wnt/ß-catenin pathway.
18 citations
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July 2016 in “Genetica” BMP4 gene is crucial for hair follicle development in Liaoning cashmere goats.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
38 citations
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February 1989 in “Journal of Investigative Dermatology” January 2013 in “China Animal Husbandry & Veterinary Medicine” IGFBP-5 likely plays a key role in goat hair growth.
January 2000 in “Cambio 16” Bcl-2 affects hair growth and pigmentation by controlling cell death.
11 citations
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May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
4 citations
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February 2019 in “Journal of Cutaneous Pathology” The marker 5-hmC changes in hair follicle stem cells when they start to grow.
40 citations
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November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” S100A3 protein is crucial for hair shaft formation in mice.