16 citations
,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
9 citations
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August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
January 2026 in “American Journal of Medical Genetics Part A” A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
6 citations
,
May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
November 2022 in “Frontiers in pediatrics” A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
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.
2 citations
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
6 citations
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July 2023 in “Nature cell biology” SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.
28 citations
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
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.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
January 2026 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
5 citations
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June 2023 in “BMC genomics” A specific gene mutation causes long hair in Angora rabbits.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
3 citations
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January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
March 2021 in “Medico-Legal Update” The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.