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.
23 citations
,
March 2001 in “Clinics in dermatology” Alopecia areata involves immune response and gene changes affecting hair loss.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
260 citations
,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
96 citations
,
June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
26 citations
,
May 2012 in “Cellular and Molecular Life Sciences” NcoA4 may have roles beyond helping control gene activity, possibly affecting cell behavior and stability.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
99 citations
,
July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
37 citations
,
April 2010 in “FEBS Letters” The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
1 citations
,
January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
March 2026 in “The Indian Journal of Animal Sciences” All Indian dromedary camel breeds have the same KRTAP7 gene affecting hair quality.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
4 citations
,
February 2025 in “BMC Genomics” Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
103 citations
,
March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
27 citations
,
April 2018 in “Scientific Reports” Psoriasis patients' immune response to a hair protein depends on their specific gene type.
2 citations
,
August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
January 2018 in “Stem cell biology and regenerative medicine” The nucleus is key in controlling skin growth and repair by coordinating signals, gene regulators, and epigenetic changes.
August 2010 in “Journal of Investigative Dermatology” New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.