5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
14 citations
,
September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
7 citations
,
September 2006 in “Molecular Carcinogenesis” Homozygous K5Cre transgenic mice have wavy hair and faster cancer progression.
14 citations
,
April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
11 citations
,
September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
19 citations
,
April 2024 in “Nature Cell Biology”
13 citations
,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
March 2010 in “Ejc Supplements” CK 5/6 expression in breast cancer is linked to negative hormone receptor status and higher tumor grade.
March 2026 in “The Indian Journal of Animal Sciences” All Indian dromedary camel breeds have the same KRTAP7 gene affecting hair quality.
July 2025 in “Frontiers in Medicine” Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
70 citations
,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
46 citations
,
December 1998 in “Journal of Biological Chemistry” Keratin 19 forms less stable and shorter filaments than keratin 14, giving unique traits to certain skin cells.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
58 citations
,
February 2013 in “Journal of Biological Chemistry” LGR5 mainly stays inside cells, moving to the trans-Golgi network, and this process is important for its role in cell signaling.
January 2025 in “Kuwait Journal of Science” KRT71 gene variants may influence camel hair shape but don't fully explain it.
25 citations
,
November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
119 citations
,
August 2008 in “BMC Evolutionary Biology” KRTAP genes evolved early in mammals, leading to diverse hair traits.
2 citations
,
August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The KDM1 gene helps Venus flytraps close by managing potassium ions.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
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.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
28 citations
,
August 1992 in “Differentiation” A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
15 citations
,
March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.