A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing HIF-P4H-2 from certain skin cells in mice causes hair loss on the body but not the head.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” Removing a specific gene in certain skin cells causes hair loss in mice by disrupting hair follicle development.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
151 citations
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August 2011 in “The EMBO Journal” The enzyme PA-PLA1α is important for proper hair follicle development.
January 2018 in “Genetic engineering & biotechnology news” A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
24 citations
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July 2017 in “Structure” FGF9 controls which receptors it binds to through a process where two FGF9 molecules join, and changes in FGF9 can lead to incorrect receptor activation.
114 citations
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July 2003 in “PubMed” Lack of KSR1 stops certain skin tumors in mice.
January 2020 in “Columbia Academic Commons (Columbia University)” Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.
July 2016 in “Experimental Dermatology” New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
94 citations
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July 2003 in “Journal of biological chemistry/The Journal of biological chemistry” EGF controls hair growth by regulating hair follicles' growth phases.
March 2016 in “Experimental Dermatology” EGFR helps hair follicles transition properly by controlling Stathmin levels.
44 citations
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
35 citations
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April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
53 citations
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September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
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.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
5 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.