91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Double-stranded RNA helps regenerate hair follicles by increasing retinoic acid production and signaling.
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.
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.
3 citations
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March 2009 in “Hirosaki University Repository for Academic Resources (Hirosaki University)” Hirosaki hairless rats have sparse, twisted hair due to missing hair keratin genes.
83 citations
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May 2011 in “Experimental Dermatology” Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
55 citations
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
11 citations
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May 1996 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
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.
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.
6 citations
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July 2024 in “Heliyon” Steroid 5α-reductase evolved from protists and diversified in eukaryotes, with specific roles in mammals and plants.
4 citations
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September 2010 in “Journal of Dermatological Science” A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
September 2025 in “PeerJ” FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
35 citations
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May 1986 in “Clinics in endocrinology and metabolism” The exact cause of increased 5α-reductase activity leading to hirsutism in women is still unknown.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” AQB reduces harmful skin changes in systemic sclerosis.
88 citations
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
24 citations
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March 1996 in “Postgraduate Medical Journal” Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
July 2018 in “Kidney international” Genetic testing for EGFR mutations is crucial in similar cases.
1 citations
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January 2020 in “Research Square (Research Square)” Inherited color dilution in Rex rabbits is linked to DNA methylation changes in hair follicles.
Delta-opioid receptors affect skin cell circadian rhythms, possibly impacting wound healing and cancer.
25 citations
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October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.