April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
March 1990 in “Journal of Dermatological Science”
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
112 citations
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January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
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January 2022 in “Theranostics” Collagen XVII is important for skin aging and wound healing.
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January 2010 in “International journal of trichology” Keratin-associated proteins are part of the developing hair fiber cuticle.
Removing SIX1 in fat cells reduces skin fibrosis.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” Desmosomes are crucial for skin and heart development, and JNK may help regulate them.
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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August 2024 in “Nature Communications” Quiescent cells have increased mitochondrial activity and ECM gene expression, but reduced glycolysis.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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January 1995 in “Human Molecular Genetics” Monilethrix is linked to a gene cluster on chromosome 12.
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January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
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September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
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February 2013 in “Archives of Dermatological Research”
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
April 2016 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” Sox9 is important in the development of tumors in domestic animals.
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April 1998 in “PubMed” Nexin 1 helps control hair growth in young rats.
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
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June 2024 in “Skin Research and Technology” Human dermal fibroblast proteins help restore nerves during healing.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
August 2025 in “International Journal of Molecular Sciences” AVT is highly conserved and may have antimicrobial properties.
243 citations
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October 2003 in “Developmental biology” Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
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August 2012 in “Experimental Dermatology” Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.