38 citations
,
October 2001 in “British Journal of Dermatology” Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
81 citations
,
February 2019 in “Experimental & Molecular Medicine” PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
August 1994 in “Molecular Endocrinology” Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
59 citations
,
May 2017 in “Scientific reports” ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
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.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
10 citations
,
January 2013 in “Journal of skin cancer” PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
July 2024 in “PLANT PHYSIOLOGY” CIPK13 and CIPK18 genes are crucial for root hair growth in plants.
93 citations
,
March 2017 in “Molecular Plant” CNGC14 is crucial for calcium entry needed for root hair growth in plants.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
1 citations
,
May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
57 citations
,
January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
15 citations
,
January 1991 in “Mammalian Genome” The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
1 citations
,
July 2023 in “Nature communications” MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.
13 citations
,
November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
January 2026 in “Human Mutation” T cell subsets are crucial in kidney cancer, and a new model predicts patient outcomes using key genes.
April 2023 in “Journal of Investigative Dermatology” Blocking casein kinase 1 in skin cells can help melanocyte precursors move better, potentially helping with conditions like vitiligo or gray hair.
January 2012 in “Durham e-Theses (Durham University)” Keratin 15 affects cell behavior and characteristics in skin cells.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.