October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
33 citations
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November 1994 in “Archives of Biochemistry and Biophysics” 3 citations
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August 2025 in “Cell” Fibroblast bioelectric signaling can promote hair growth and may help treat hair loss.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
29 citations
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September 2017 in “Genes” Selecting specific KRTAP26-1 gene variants can improve wool quality in sheep.
February 2020 in “Definitions” KRT72 gene helps form hair.
Wnt7a helps corneal cells grow and stick together, aiding in repair.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Lef1 helps adult skin cells maintain their ability to heal wounds and regenerate hair, but the study's methods and conclusions have been questioned.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
17 citations
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September 2018 in “Matrix Biology” Laminin-511 is essential for proper melanocyte movement and development in mice.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
24 citations
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June 2003 in “Journal of Structural Biology” Sheet formation is key to macrofibril structure differences in wool.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
21 citations
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October 2007 in “Journal of Investigative Dermatology” Fetuin-A helps wounds heal without scars by promoting cell movement.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
98 citations
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December 2015 in “The Journal of Cell Biology” Keratin is crucial for skin barrier formation and affects mitochondrial function.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
1 citations
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January 2015 in “China Animal Husbandry & Veterinary Medicine” Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
Genetic factors might cause fibrosing alopecia linked to hair shaft abnormalities.
January 2012 in “Zhongguo shouyi xuebao” Sheep breeds show different keratin gene expression in the groin, linked to hair follicle density.
11 citations
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July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
3 citations
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January 2014 Collagen XVIII and Bmx tyrosine kinase are important for hair growth and skin cancer development.
11 citations
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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.
March 2026 in “Journal of Investigative Dermatology”
July 2025 in “Scientific Reports” Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
37 citations
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January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.