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.
10 citations
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May 2007 in “Oncology Reports” Colorectal cancer's ability to spread is due to changes in many genes, not just one.
4 citations
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December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
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.
26 citations
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February 1998 in “DNA and Cell Biology” K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
12 citations
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March 2004 in “Journal of Investigative Dermatology” 109 citations
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June 2011 in “Molecular and Cellular Endocrinology” Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
153 citations
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April 1998 in “Current Biology” The risk of skin tumors becoming malignant depends on the specific skin cell type affected.
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
January 2009 in “Journal of Clinical Dermatology” CAG repeat numbers in the AR gene likely don't affect hair loss in Korean men.
27 citations
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January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
Certain KIR genes in Indian SLE patients are linked to disease severity and could be biomarkers.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
19 citations
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December 2015 in “Journal of Investigative Dermatology” The protein p53 directly reduces the production of Keratin 17, a skin and hair protein, in rats with radiation dermatitis.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
5 citations
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January 2016 in “Dermatology” No significant link between CAG repeat numbers and female pattern hair loss in Han Chinese population.
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.
February 2025 in “Archives animal breeding/Archiv für Tierzucht” Certain gene combinations improve cashmere quality and production in Liaoning goats.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
92 citations
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February 2005 in “Journal of Investigative Dermatology”
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
10 citations
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January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
October 2007 in “Revue du Rhumatisme”