29 citations
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August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
8 citations
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June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
6 citations
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November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
10 citations
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November 2008 in “Veterinary Dermatology” The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” The study showed that a specific DNA sequence can control gene expression in hair growth areas of mice.
32 citations
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January 2000 in “Human Heredity” Monilethrix severity varies and may be influenced by other genetic or environmental factors.
6 citations
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January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
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.
23 citations
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January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
140 citations
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October 2008 in “Nature Genetics”
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
412 citations
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January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
3 citations
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October 2020 in “Journal of Investigative Dermatology” Removing β-catenin in certain stem cells causes hair whitening and pigmentation issues.
15 citations
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August 2013 in “Gene” The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
51 citations
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December 2006 in “Mammalian Genome” 1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
February 2026 in “Pediatric Dermatology” 8 citations
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April 2016 in “Experimental Dermatology” The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.
4 citations
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
11 citations
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August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
7 citations
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April 2000 in “Mammalian Genome” A new mutation in mice causes crooked whiskers and messy hair.