134 citations
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January 2011 in “Development” Adam10 enzyme is crucial for healthy skin and proper Notch signaling.
32 citations
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November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
72 citations
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April 2008 in “Organogenesis” Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
3 citations
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July 2017 in “Endogenous locus-driven H-Ras G12V expression induces senescence-like phenotype in primary fibroblasts of the Costello syndrome mouse model” Mouse hair follicle stem cells have a flexible chromatin state that supports skin health and hair growth.
July 2024 in “Journal of Investigative Dermatology” 6 citations
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January 2006 in “Journal of dermatological science” Runx1 helps control the KAP5 gene in human hair follicles.
387 citations
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November 2003 in “Journal of Investigative Dermatology” The K15 promoter effectively targets stem cells in the hair follicle bulge.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
49 citations
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January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
25 citations
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October 2007 in “Developmental biology” Clim proteins are essential for maintaining healthy corneas and hair follicles.
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.
41 citations
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February 2005 in “Experimental Cell Research” MAEG helps in mouse hair follicle development by aiding cell adhesion.
37 citations
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August 2014 in “Journal of experimental botany” A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
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.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
27 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
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.
April 2017 in “Journal of Investigative Dermatology” April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
6 citations
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October 2022 in “Journal of cell science” Keratin genes change gradually during skin cell development and should be used carefully as biomarkers.
March 1998 in “Journal of dermatological science” Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
6 citations
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January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
28 citations
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January 2012 in “Biological & pharmaceutical bulletin” Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
138 citations
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June 2012 in “Genes & Development” Sonic hedgehog signaling is crucial for hair growth and maintaining hair follicle identity.