6 citations
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December 2021 in “International Journal of Endocrinology” The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
March 2026 in “Journal of Investigative Dermatology” 14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
9 citations
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January 1988
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
2 citations
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February 2024 in “Medicine” A mutation in the IL2RA gene increases the risk of alopecia areata.
Skin cells can naturally limit the growth of cancerous changes by balancing cell renewal and differentiation.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
6 citations
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March 1996 in “Journal of Investigative Dermatology” January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
2 citations
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May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
59 citations
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September 2007 in “Biochemical and Biophysical Research Communications” The TRPV3 gene mutation affects hair growth by keeping mice in the growth phase longer, which could help treat hair loss.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
21 citations
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July 2011 in “Journal of the American Academy of Dermatology” A man developed a rash similar to pityriasis rubra pilaris after starting sorafenib for cancer, possibly due to the drug's effect on skin cells.
1 citations
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
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.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” The HCR gene contributes to psoriasis risk.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
March 2023 in “The Journal of Urology” Higher SRD5A2 expression predicts better response to finasteride in treating urinary symptoms.