29 citations
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January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
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.
54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
35 citations
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September 1994 in “Journal of Investigative Dermatology”
76 citations
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
9 citations
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July 2011 in “Scientific Reports” Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
34 citations
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April 2018 in “EMBO journal” The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” DKK2 and SOSTDC1 together are necessary for the normal timing of the first regression phase in the hair growth cycle.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
60 citations
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
118 citations
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October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
1 citations
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February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
5 citations
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December 1996 in “Biochemical and Biophysical Research Communications” Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.
210 citations
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
September 2013 in “Helda (University of Helsinki)” Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
17 citations
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October 2003 in “Brazilian Journal of Medical and Biological Research” The gene SDR5A1 is found in scalp hair of both hirsute and normal individuals, but it does not explain differences in hair growth.
8 citations
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September 2017 in “Scientific Reports” MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.
1 citations
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October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
73 citations
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May 2009 in “Proceedings of the National Academy of Sciences” Disrupting the Sox21 gene in mice causes hair loss and regrowth cycles.
23 citations
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November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.