January 2012 in “Journal of Investigative Dermatology” Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
August 2019 in “Anais Brasileiros de Dermatologia” 29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
6 citations
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February 2022 in “The journal of neuroscience/The Journal of neuroscience” Deleting the PTEN gene in mice causes nerve cells to grow larger and heal better after injury, but may cause overgrowth and hair loss in older mice.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair follicles protect melanocytes from sun damage, helping them replenish skin.
14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
69 citations
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May 1997 in “Veterinary Pathology” The angora mouse mutation causes long hair and hair defects due to a gene deletion.
11 citations
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November 2014 in “Behavior Genetics” 26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
6 citations
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March 2017 in “Journal of the European Academy of Dermatology and Venereology” Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
October 2005 in “Nature reviews. Molecular cell biology (Print)” Hairless protein is key for hair growth, cell differences cause gene expression variation, and the N-end rule pathway senses nitric oxide for protein breakdown.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
37 citations
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February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
January 2018 in “Elsevier eBooks” Progeria, a disease that causes early aging, is linked to a gene mutation and helps us understand normal aging.
6 citations
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March 1996 in “Journal of Investigative Dermatology”
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.