14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
Shh and Dhh affect skin development and can cause tumors, while Ihh does not.
1 citations
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September 2025 in “Frontiers in Immunology” Folate receptor β helps suppress the immune system in macrophages and affects cancer growth and hair health.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
32 citations
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January 2000 in “International Journal of Cancer” Transglutaminase-3 is often reduced in esophageal cancer.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
55 citations
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
18 citations
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September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
2 citations
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November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” GRK2 is essential for healthy hair follicle function, and its absence can lead to hair loss and cysts.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
The KRT84 gene is linked to better wool quality in Gansu Alpine Fine-wool sheep.
5 citations
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January 2015 in “Molecular Genetics and Metabolism” The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
20 citations
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December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
9 citations
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September 2015 in “Reproductive Biomedicine Online” Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
18 citations
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September 2018 in “The Journal of Agricultural Science” Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
May 2023 in “Pharmaceuticals” Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
9 citations
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September 2017 in “PubMed” EGFR inhibitors can cause skin issues, but managing them is important for treatment success.
23 citations
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May 2020 in “Cell Death and Disease” Blocking the FGF5 gene in sheep leads to more fine wool and active hair follicles due to changes in certain cell signaling pathways.
January 2012 in “Zhongguo shouyi xuebao” Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.