30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
January 2024 in “Kafkas Universitesi Veteriner Fakultesi Dergisi” A specific genetic variation affects wool quality in sheep.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” A new method can detect mutations in mice by observing changes in hair follicle cells.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
April 2010 in “Nature Reviews Urology”
December 2024 in “Era s journal of medical research” Genetic variants in CYP genes may worsen PCOS symptoms.
95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
8 citations
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
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16 citations
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July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
29 citations
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March 2023 in “European Journal of Human Genetics” New genetic factors linked to acne risk were discovered, highlighting the role of certain pathways and genes.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
January 2024 in “International Journal of Biochemistry and Molecular Biology” Hormone levels can help predict metformin treatment success in women with PCOS.
54 citations
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
January 2016 in “Memorial University Research Repository (Memorial University)” Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
3 citations
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May 1990 in “Journal of Steroid Biochemistry” Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
January 2024 in “International journal of molecular sciences” Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
February 2009 in “Journal of The American Academy of Dermatology” Certain immune system genes are linked to a higher risk of psoriasis and psoriatic arthritis, while others may offer protection.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
January 2016 in “Experimental Dermatology” New findings suggest potential treatments for melanoma, hyperpigmentation, hair defects, and multiple sclerosis, and show skin microbiome changes don't cause atopic dermatitis.
4 citations
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May 2024 in “Genes” KRT81 gene variations in sheep affect wool weight but not fiber length or thickness.