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April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
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MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
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January 2022 in “Annals of Dermatology” A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
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November 2010 in “Journal of molecular medicine” FoxN1 gene is essential for proper thymus structure and preventing hair loss.
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October 2014 in “PLOS ONE” BAF200 is essential for proper heart and coronary artery formation.
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The FGF5 gene variant causes long hair in Akitas, and genetic testing is advised to manage coat length and welfare.
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September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
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January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
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.
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
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