32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
253 citations
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April 2009 in “Journal of Biological Chemistry” p2y5, now called LPA6, is a receptor important for human hair growth.
2 citations
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January 2010 62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
6 citations
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December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
1 citations
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May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
July 2024 in “Journal of Investigative Dermatology” Brepocitinib improves cicatricial alopecia and reduces key immune markers.
2 citations
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May 2019 in “Small ruminant research” Mutations in specific llama genes may affect fiber quality for textiles.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
1 citations
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October 2023 in “Egyptian Journal of Immunology” PCOS is linked to low-grade chronic inflammation.
December 2004 in “SUNScholar (Stellenbosch University)” Certain genetic markers can indicate a person's risk of developing prostate cancer.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
January 2022 in “Journal of Biomedical Research & Environmental Sciences” Certain gene variations may increase the risk of PCOS in South Indian women.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” YAP1 is important for skin regeneration and may affect skin disorder treatments.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
January 2019 in “Publisher” Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
20 citations
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October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
81 citations
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October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genes control the color of human hair by affecting pigment production.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
6 citations
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
12 citations
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July 2015 in “Tissue Antigens” The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
1 citations
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January 2016 in “Australasian Journal of Dermatology” A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
April 2015 in “Dentistry 3000” Premature hair graying in the face may be influenced by genetics and environment.
March 2025 in “Clinical Cosmetic and Investigational Dermatology” The Tru9I variant in the VDR gene may influence alopecia areata risk and vitamin D levels.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
April 2008 in “Progrès en Urologie”