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September 2024 in “BMC Genomics” Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
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April 2020 in “Experimental Cell Research” PCAT1 helps hair growth by controlling miR-329/Wnt10b.
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January 2020 in “Frontiers in endocrinology” Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
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July 2015 in “Developmental Dynamics” Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.
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March 2021 in “Molecular and Cellular Endocrinology” CYP11A1 is crucial for skin health and disease by producing important steroids.
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January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
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June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
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December 2022 in “Journal of Infection” The ACE1 gene variant doesn't affect long-COVID symptoms.
Four genes are linked to alopecia areata, with two increasing risk and two offering protection.
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
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January 2018 in “Journal of Clinical Laboratory Analysis” Certain IL-18 gene variations may increase the risk of alopecia areata.
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
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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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March 2023 in “Lasers in Surgery and Medicine” Ablative fractional laser treatment nearly matches the gene reduction effects of topical vismodegib in skin cancer.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
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.
July 2025 in “Journal of Investigative Dermatology” Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
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September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
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October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
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January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
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June 2025 in “Cell Reports” Clonally expanded CD8+ T cells cause alopecia areata.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
October 2007 in “Revue du Rhumatisme” June 2025 in “Proceedings of the National Academy of Sciences” A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.
November 2011 in “Molecular Cancer Therapeutics” The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
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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.
January 2024 in “Biomedicines” The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.
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August 2022 in “World Journal of Clinical Cases” Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
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March 2022 in “Journal of Dermatological Science” Adding TERT and BMI1 to certain skin cells can improve their ability to create hair follicles in mice.