22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
The microenvironment affects the behavior and survival of melanocytes with the GNAQ oncogene in melanoma.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
4 citations
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February 2019 in “PubMed” Clascoterone may be an effective topical treatment for hair loss.
26 citations
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May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
1 citations
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July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
39 citations
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October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
41 citations
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July 2016 in “Journal of Investigative Dermatology” Dysplastic nevi have unique gene expressions, making them distinct from common melanocytic nevi.
8 citations
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April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
2 citations
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December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
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.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
32 citations
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November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
April 2023 in “Journal of Investigative Dermatology” Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
3 citations
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January 2022 in “Medical Mycology Journal” Malassezia fungi in healthy noses can form a "spaghetti-and-meatballs" structure.
1 citations
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
14 citations
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October 2015 in “PLoS ONE” Keratin 14 is uniquely found in a specific group of placental cells.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
2 citations
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January 2010 8 citations
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August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
20 citations
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September 2021 in “Nature communications” Cat color patterns are determined early in development by gene expression and epidermal changes, with the Dickkopf 4 gene playing a crucial role.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.