27 citations
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September 1999 in “Journal of Investigative Dermatology” Human skin cells contain Protease Nexin-1, and male hormones can decrease its levels, potentially affecting hair growth.
A KRT32 gene variant causes loose anagen hair syndrome.
69 citations
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December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
3 citations
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October 2024 in “Frontiers in Pharmacology” Compounds from Pterocarpus indicus may help treat benign prostatic hyperplasia by stopping cell growth.
7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
8 citations
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November 2020 in “Nature Communications” Adult stem cells with Tp63 can form hair and skin cells when placed in new skin, showing they have hidden abilities for skin repair.
22 citations
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June 2017 in “Stem cell reports” PTEN helps control the number and health of skin stem cells by working with the protein BMAL1.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
1 citations
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January 2023 in “Biochemical and biophysical research communications” Keratin 79 is linked to liver damage and may help diagnose liver diseases.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
January 2024 in “Biomarker Insights” Certain genetic variants may increase the risk of developing PCOS.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
39 citations
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April 2019 in “The journal of immunology/The Journal of immunology” Malt1 protease is essential for regulatory T cell function and could be targeted to boost antitumor immunity.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
35 citations
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July 2010 in “The FEBS journal” The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
2 citations
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June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
60 citations
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
July 2024 in “Journal of Investigative Dermatology” 1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.