21 citations
,
February 2006 in “Clinical Cancer Research” Mitf plays a key role in melanoma progression and is linked to disease stage.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
12 citations
,
September 2014 in “Bone” A vitamin D receptor mutation causes rickets and affects immune responses.
20 citations
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January 2002 in “Laboratory Animals” Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
3 citations
,
April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
68 citations
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March 2008 in “Experimental dermatology” The new assay can track and measure melanosome transfer between skin cells, confirming filopodia's role in this process.
Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
1 citations
,
October 2019 in “International Journal of Dermatology and Venereology” Zebrafish help understand genetic causes of skin pigment disorders like albinism.
3 citations
,
September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Keratin 75 is important for fast wound healing and works with SOX2 and the LINC complex to help skin cells move and repair damage.
81 citations
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January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
57 citations
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January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
14 citations
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January 2006 in “Skinmed” A woman developed white patches on her skin and curly hair after hepatitis C treatment, likely due to the medication interferon alpha.
7 citations
,
January 2011 Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.
71 citations
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August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
21 citations
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October 2007 in “Journal of Investigative Dermatology” Fetuin-A helps wounds heal without scars by promoting cell movement.
3 citations
,
December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
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.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
7 citations
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August 2013 in “Experimental and Therapeutic Medicine” 1,25-dihydroxyvitamin D3 helps melanocyte precursors from hair follicles grow and produce melanin, aiding vitiligo treatment understanding.
38 citations
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February 1989 in “Journal of Investigative Dermatology”
122 citations
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June 2002 in “Genes & Development” Keratin 17 is crucial for early hair strength and cell survival.
17 citations
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
12 citations
,
December 1981 in “Journal of Endocrinology” α-MSH increases melanin production in moulting hair follicles, while AVT inhibits it.