24 citations
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June 2015 in “Journal of Investigative Dermatology” aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
41 citations
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January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
38 citations
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January 2014 in “Journal of Dermatological Science” Krtap11-1 is important for hair strength and structure.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
11 citations
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March 2019 in “EMBO molecular medicine” A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
1 citations
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November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
8 citations
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September 2022 in “Human genomics” Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
6 citations
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November 2022 in “Antioxidants” OR2AT4 helps reduce aging and cell damage in human skin cells.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
80 citations
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June 1997 in “The American Journal of Human Genetics” 25 citations
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April 2019 in “Animals” KRTAP28-1 gene can help breed sheep with finer wool.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
1 citations
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April 1998 in “PubMed”
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
4 citations
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August 2023 in “Biomedicine & Pharmacotherapy” Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
2 citations
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January 2014 in “Photochemical & photobiological sciences” Grasp protein helps maintain skin health after UVB exposure.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
129 citations
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January 2007 in “Otology & Neurotology” Gene therapy with the Math1 gene helped regenerate balance-related cells and improve balance in mice.
3 citations
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August 2023 in “Biophysical Journal” Mitochondrial activity varies in cells before they stop growing, affecting their growth potential.
28 citations
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March 2010 in “British Journal of Dermatology” Genetic marker rs12558842 strongly linked to male hair loss.
Blocking the Mitochondrial Pyruvate Carrier causes stress in hair follicles, which can be reduced by an ISR inhibitor.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
7 citations
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January 2017 in “Sub-cellular biochemistry/Subcellular biochemistry”
May 2026 in “Research Square” The polyG fragment in Hoxc13 protein helps evolve mammalian skin and hair by enhancing gene interactions.