May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
October 2013 in “Journal of Investigative Dermatology” Collagen VII helps skin heal and stay strong, sirolimus may lower skin cancer risk in kidney transplant patients, high-molecular-mass hyaluronan helps naked mole rats resist cancer, dermal γδ T cells aid in hair growth in rodents, and overexpression of IL-33 in mouse skin causes itchiness, offering a model for studying allergic inflammation treatments.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
8 citations
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January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
36 citations
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January 2007 in “Archives of Histology and Cytology” Type IV collagen chains vary in different parts of human skin, with specific patterns linked to melanocytes.
3 citations
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April 2015 in “Current problems in dermatology” A more sensitive assay was developed to detect enzyme activity converting arginine to citrulline in hair follicles.
27 citations
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July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
63 citations
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April 2005 in “Mechanisms of development” Mice with too much Claudin-6 have skin barrier problems and abnormal hair growth.
5 citations
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October 2024 in “International Journal of Biological Sciences” A peptide from hair follicle stem cells can boost hair growth.
4 citations
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January 2017 in “Biological & pharmaceutical bulletin” Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
3 citations
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October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
January 2023 in “Annals of Dermatology” Patients with a specific genetic variant have more severe alopecia areata and higher recurrence rates.
76 citations
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January 1998 in “Mammalian Genome” 90 citations
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February 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Interleukin-1 increases keratin K6 production in skin cells.
23 citations
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April 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
31 citations
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October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
7 citations
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July 2019 in “Animals” The KRTAP21-1 gene affects wool yield and can help improve wool production.
8 citations
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December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
April 2019 in “Journal of the Endocrine Society” An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
July 2025 in “Journal of Investigative Dermatology” June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists created cell lines to study a genetic skin disorder using CRISPR technology.