184 citations
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September 2006 in “PLoS Genetics” The Apc gene is crucial for normal skin and thymus development.
88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
22 citations
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September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
January 2001 in “Acta Academiae Medicine Militaris Tertiae” K14 expression in young rats differs from adults.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
January 2015 in “DukeSpace (Duke University)” Transferrin receptor 1 is essential for normal function in the intestines, pancreas, and skin.
January 2018 in “Stem cell biology and regenerative medicine” ATP-dependent chromatin remodeling is crucial for skin development and stem cell function.
26 citations
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December 2020 in “Nature metabolism” Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
7 citations
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January 2016 in “Laboratory Investigation” TR3 is mainly found in hair follicle stem cells and may be involved in hair loss.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
44 citations
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March 2012 in “Fitoterapia” Germacrone from Curcuma aeruginosa may help treat conditions related to male hormones by blocking a specific enzyme.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
33 citations
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March 1994 in “PubMed” High ODC and low K1 and K10 may indicate early skin tumors in mice.
90 citations
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February 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Interleukin-1 increases keratin K6 production in skin cells.
74 citations
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September 2003 in “The Journal of Immunology” Activating PKCα in skin causes cell death and inflammation through different pathways.
April 2013 in “Developmental Cell” Brg1 is crucial for keeping hair follicle stem cells and repairing skin, working with the Sonic Hedgehog pathway to promote hair growth.
27 citations
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December 2013 in “Endocrinology” Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
5 citations
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July 2022 in “Genes” Increasing EGR1 levels makes hair root cells grow faster.
67 citations
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August 2004 in “Endocrinology” A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
33 citations
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May 2017 in “Journal of Clinical Oncology” ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
April 2025 in “Molecular Biology Reports” DNMT1 may help treat hypospadias by improving cell function and preventing unwanted cell changes.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Esrp1 is important for skin health by helping form and maintain the skin barrier.
14 citations
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October 2015 in “PLoS ONE” Keratin 14 is uniquely found in a specific group of placental cells.
10 citations
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August 1998 in “Journal of Investigative Dermatology”