April 2020 in “Research Square (Research Square)” Trichilemmal carcinoma shares genetic traits with other skin cancers, suggesting similar treatment options.
SLC24A5 shows a clear selective sweep, but no link to UV radiation intensity.
3 citations
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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.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” LRIG1 is linked to better survival in Merkel cell carcinoma.
100 citations
,
November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
11 citations
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March 2014 in “Journal of Investigative Dermatology” Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.
47 citations
,
July 2005 in “European Journal of Cell Biology” Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
February 2026 in “Pediatric Dermatology” 19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
71 citations
,
February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
22 citations
,
May 2007 in “Molecular Biotechnology” 3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
23 citations
,
June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
5 citations
,
June 2008 in “British Journal of Dermatology”
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
November 2020 in “Journal of The American Academy of Dermatology” Certain immune markers may predict chemotherapy response in mesothelioma, and nivolumab is a tolerable and effective treatment for advanced non-small cell lung cancer.
55 citations
,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
9 citations
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January 2015 in “Medical hypotheses” TCDD disrupts skin stem cells, causing skin issues like chloracne.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.