112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
53 citations
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September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
5 citations
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May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
April 2026 in “European Journal of Medical and Health Research” Women with hair loss had lower IGF-1 levels.
7 citations
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July 2005 in “Journal of Dermatological Science” The gene URB is more active in human hair growth cells and responds to a hair-related hormone.
26 citations
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March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
August 2025 in “Scientific Reports” C4BPA protein may link acne severity and insulin resistance.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
37 citations
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August 2024 in “Current Issues in Molecular Biology” Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
6 citations
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November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
26 citations
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September 2001 in “Journal of Investigative Dermatology” BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
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.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
July 2025 in “Journal of Investigative Dermatology”
April 2023 in “Journal of Investigative Dermatology” Changing YBX1 protein activity affects skin stem cell function and aging.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
25 citations
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May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
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.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
5 citations
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February 2016 in “Genetic Testing and Molecular Biomarkers” Hair loss is significantly linked to lower levels of certain genes in hair follicles.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
26 citations
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June 2000 in “Journal of The American Academy of Dermatology” Men with balding at age 45 had higher IGF-1 and lower IGFBP-3, suggesting these factors might be important in male pattern baldness.
55 citations
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March 2014 in “EMBO Reports” Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.
13 citations
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July 1994 in “PubMed” Keratins K6 and K16 are expressed more freely in regenerating mouse skin than K1 and K10.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
January 2017 in “Qucosa (Saxon State and University Library Dresden)” Plasma protein binding significantly affects glucocorticosteroid concentration in blood, saliva, and hair.