26 citations
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July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
31 citations
,
October 1992 in “PubMed” A mycobacterial protein shares a similar region with a human skin protein, possibly affecting skin diseases.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
59 citations
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March 2003 in “The Lancet” Imatinib can repigment grey hair, while SU11428 can cause temporary hair depigmentation.
Loss of Dnmt3a and Dnmt3b increases aggressive skin tumors by affecting PPAR-γ.
27 citations
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June 2015 in “Journal of Investigative Dermatology” TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
4 citations
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July 2024 in “Animals” The KRTAP19-5 gene affects wool curvature in Chinese Tan sheep, with Variant B reducing curvature.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair loss in certain mice is linked to changes in keratin-related genes.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
24 citations
,
January 2023 in “Cancer Research” AMPK activation may reduce melanoma risk in red-haired individuals.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
4 citations
,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
8 citations
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May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
June 1996 in “Journal of Dermatological Science” 61 citations
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September 1994 in “Journal of Medical Genetics” Pachyonychia congenita is linked to a keratin gene on chromosome 17.
24 citations
,
October 2019 in “Genes” A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
1 citations
,
September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
Certain genetic variations are linked to hair loss in Mexican men.
April 2005 in “Journal of Investigative Dermatology” Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.