Lack of certain cells causes abnormal nipple development and nursing failure.
January 2026 in “Scientific Reports” Sesamin may help treat hair loss by affecting specific cell pathways.
August 2025 in “Scientific Reports” C4BPA protein may link acne severity and insulin resistance.
Certain plasma proteins and genes are linked to obstructive sleep apnea, suggesting potential new treatments.
March 2025 in “Journal of Endocrinology and Metabolism” Rodent models of PCOS show some hormone changes similar to humans, but also have key differences.
December 2023 in “Frontiers in endocrinology” Excess androgens may cause PCOS, not just be a symptom.
December 2016 in “University of Birmingham Institutional Research Archive (University of Birmingham)” Steroid-producing capabilities in certain cancers may contribute to treatment resistance.
Higher cholesterol levels increase aggressive prostate cancer risk.
February 2010 in “ePrints Soton (University of Southampton)” Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
91 citations
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
15 citations
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January 1991 in “Mammalian Genome” November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
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.
1 citations
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February 1991 in “Journal of Biological Chemistry”
48 citations
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July 1996 in “Human & Experimental Toxicology” Human enzymes can detoxify harmful substances but might also increase their cancer risk.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
324 citations
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May 2002 in “Oncogene” January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
December 2010 in “OhioLink ETD Center (Ohio Library and Information Network)” Sry may regulate fatty acid metabolism and shows different expression levels in rat tissues.