4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
6 citations
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July 1994 in “Journal of Dermatological Science” Introducing the rat OTC gene normalized hair growth in SPF-ASH mice.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
130 citations
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January 2000 in “Nature biotechnology”
3 citations
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May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
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.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
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.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
3 citations
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
1 citations
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January 2024 in “Veterinary Dermatology” Alopecia X in Pomeranians is likely genetic, not environmental.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
April 2024 in “Anais Brasileiros de Dermatologia” 28 citations
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January 2005 in “Photochemistry and Photobiology” Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
39 citations
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January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
19 citations
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February 2001 in “Journal of paediatrics and child health” A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
3 citations
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March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Increased PHGDH expression causes early melanin buildup in hair follicles.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.