November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
September 1998 in “British journal of plastic surgery” 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.
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.
September 2024 in “Frontiers in Genetics” A specific genetic marker is linked to male pattern baldness in Han Chinese men.
May 2024 in “Indian Journal of Dermatology” Androgenetic alopecia in men is genetic and linked to health issues like obesity and heart disease, with treatments including minoxidil, finasteride, and hair transplants.
May 2023 in “Vestnik dermatologii i venerologii” Early-stage male pattern baldness shows two types of hair loss: one on the top of the head linked to hormonal changes, and another at the back of the head. The top hair loss responds well to specific treatment, while the back hair loss does not.
December 2022 in “Rossiiskii Zhurnal Kozhnykh i Venericheskikh Boleznei” Androgenic alopecia in men is mainly linked to family history, hormonal imbalances, and metabolic issues, but can also be influenced by lifestyle habits, environmental factors, and deficiencies in certain vitamins and microelements like copper.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
1 citations
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June 2022 in “Journal of Cosmetic Dermatology” Two specific genetic markers increase the risk of hair loss in Asian populations.
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.
3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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.
11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
8 citations
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
November 2024 in “Journal of Investigative Dermatology”
3 citations
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January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
April 2011 in “Reactions Weekly” December 2023 in “International Journal of Dermatology”
7 citations
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January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
July 2025 in “Journal of Investigative Dermatology” January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
67 citations
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February 2009 in “Journal of Dermatology”
4 citations
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March 2007 in “Hair transplant forum international” The document's conclusion cannot be provided as the content is not available.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
1 citations
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August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
May 2018 in “International Society of Hair Restoration Surgery” March 2018 in “International Society of Hair Restoration Surgery”