15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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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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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
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March 2007 in “Developmental biology” The study found that the protein Dkk4 helps regulate hair growth by controlling Wnt signaling in mice.
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January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
49 citations
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August 2004 in “The FASEB Journal” Mice with human skin protein K8 had more skin problems and cancer.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
GPC1 is important for blood vessel growth in hair follicles and could help treat hair loss.
40 citations
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December 2010 in “Human Genetics” 130 citations
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April 2003 in “Journal of Investigative Dermatology” Four specific keratins in hair follicles help understand hair structure and function.
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January 2019 in “American Journal of Dermatopathology” DKK-1 gene linked to hair loss in AGA and AA patients; more research needed for potential therapy.
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ARHGEF3 is essential for proper hair follicle development.
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January 2024 in “Annals of Dermatology” Dickkopf-related Protein 2 can help hair grow by activating a specific cell pathway.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
4 citations
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October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Krt16-deficient mice help understand skin disorders like PC and FNEPPK.