16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
Mutations in specific genes cause different types of ectodermal dysplasias.
1 citations
,
May 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
42 citations
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
2 citations
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March 2022 in “Research Square (Research Square)” Seasonal changes affect gene activity linked to hair growth in Angora goats, influencing mohair quality.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
10 citations
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May 2023 in “iScience” Sox9 is crucial for hair follicle stem cells to become melanocytes instead of glial cells.
16 citations
,
July 2008 in “BMC Genomics” Alpha 6 + /MHCI - cells have stem cell traits and are similar to mouse hair follicle stem cells.
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.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
July 2022 in “Research Square (Research Square)” Certain miRNAs may play a role in sheep hair follicle development, which could help improve wool production.
50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
18 citations
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September 2003 in “International Journal of Cancer” EBV infection increases a specific keratin variant in carcinoma cells, possibly affecting cell structure and cancer progression.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
1 citations
,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
14 citations
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May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
October 2017 in “The Indian Journal of Animal Sciences” The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
27 citations
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June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
13 citations
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March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
27 citations
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April 2004 in “Biochemical and Biophysical Research Communications” Two new gene clusters important for hair formation were found on human chromosome 11.
1 citations
,
February 2009 in “Journal of Investigative Dermatology” Lipase H is important for hair follicle function and shaping hair fibers.
May 2012 in “Nature Genetics” Blond hair in Solomon Islanders is due to a unique genetic variant, not European ancestry.