3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
January 2025 in “Nutrients” Genetic factors and diet significantly increase the risk of male pattern baldness.
1 citations
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March 2013 in “Journal of Dermatological Case Reports” A rare skin condition affected only the facial hair of a 46-year-old man.
February 2026 in “Pediatric Dermatology” January 2026 in “Current Issues in Molecular Biology” miR-5110 affects alpaca pigmentation by altering specific gene expressions.
1 citations
,
February 2025 in “Journal of Dairy Science” The SLICK1 allele in Holstein heifers affects hair and immune traits without altering prolactin signaling.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
CAG repeat numbers in the AR gene likely don't affect male pattern baldness in Korean men.
March 2024 in “Bioscientia medicina” The rs6152 allele is not a good marker for baldness in the Indonesian population, but family history, age, gender, high blood pressure, and body weight are linked to the risk.
6 citations
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October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.
December 2020 in “Research Square (Research Square)” A genetic change in the FGF5 gene affects hair growth in cashmere goats.
11 citations
,
July 2016 in “Endocrinology” Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
3 citations
,
April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
65 citations
,
October 2015 in “Acta Biomaterialia” The nano-carrier makes etoposide safer and more effective against lung cancer.
2 citations
,
August 2022 in “Viruses” Skin cancer often starts from Lgr5+ progenitor cells.
August 2016 in “Journal of Investigative Dermatology” 66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
15 citations
,
January 1991 in “Mammalian Genome” 6 citations
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July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
48 citations
,
January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.