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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
36 citations
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March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
6 citations
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June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
January 2026 in “Biochemical Pharmacology” 32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
3 citations
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January 2025 in “动物学研究” The gene GJA1 is important for regulating coarse hair density in goats.
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August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
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January 2019 in “International journal of biological sciences” Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
6 citations
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December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
6 citations
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October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.
A specific gene change in APCDD1 increases the risk of hair loss.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
153 citations
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June 2015 in “GenomeBiology.com” The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
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March 2022 in “Frontiers in Oncology” HOTTIP and miR-10b contribute to glioma therapy resistance by affecting cell behavior, suggesting they could be targets for treatment.
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October 1998 in “Experimental Dermatology” Normal skin results from interactions between EGF and the Tabby mutation.
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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.