24 citations
,
May 2009 in “The FASEB Journal” This study found that Akt2 and SGK3 are crucial for postnatal hair follicle development in mice, as their combined absence led to severe hair growth defects due to disrupted β-catenin-dependent transcriptional processes.
6 citations
,
August 2007 in “Journal of Surgical Research” In this study, constitutive expression of Del1 in mice did not affect wound healing but was associated with increased hair growth following anagen induction.
49 citations
,
October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
24 citations
,
October 2019 in “Genes” In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
54 citations
,
July 2017 in “Scientific Reports” This study found that the JMJD3/NF-κB-Notch1 pathway plays a crucial role in regulating keratinocyte migration and skin wound healing, with Notch1 affecting key genes involved in cell migration.
1 citations
,
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.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
7 citations
,
August 2020 in “Animal biotechnology” This study found that lncRNA-599547 positively regulates the expression of the Wnt10b gene by interacting with miR-15b-5p, enhancing the inductive property of dermal papilla cells in cashmere goats.
94 citations
,
October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
June 2020 in “Nihon Ika Daigaku Igakkai Zasshi” This study found that aPKCλ, but not aPKCζ, plays a critical role in maintaining hair follicle stem cell populations and promoting wound healing in the epidermis.
March 2024 in “Cytologia” In this study, researchers observed that melatonin-mediated LncRNA MTC in Liaoning cashmere goat skin fibroblasts enhances cell proliferation by interacting with the GSTM1 protein, affecting its complex formation with ASK1 and thereby inhibiting apoptosis, which may be relevant for improving cashmere growth.
10 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.
November 2023 in “Journal of Investigative Dermatology” Removing GRK2 in skin cells causes hair loss similar to immune-related alopecia.
175 citations
,
September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
79 citations
,
August 1998 in “The Journal of Cell Biology” In a transgenic mouse model, this study found that overexpression of keratin 16 in skin keratinocytes led to hyperkeratosis and increased EGF receptor signaling, altering skin cell behavior and structure.
33 citations
,
February 2021 in “Journal of Medicinal Chemistry” This study found that novel MPC inhibitor analogues with specific chemical modifications promoted significant hair growth in shaved mice when applied topically.
7 citations
,
April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.
54 citations
,
January 1995 in “Human Molecular Genetics” This study mapped monilethrix, a hereditary hair and nail disorder, to the type II keratin cluster on chromosome 12q, marking the first primary human hair disorder localization and implicating defects in "hard" keratins.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
11 citations
,
November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
1 citations
,
May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
75 citations
,
October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
100 citations
,
December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that KrasG12D mutant cells are typically cleared from adult pancreas tissues through mechanisms involving the EphA2 receptor, suggesting its role as a tumor suppressor in pancreatic cancer.
43 citations
,
April 1996 in “Journal of Investigative Dermatology”
3 citations
,
April 2022 in “Frontiers in Physiology” This study found that loss of the Ptch2 receptor in mice leads to increased incisor growth and enhanced mesenchymal stem cell differentiation, highlighting Ptch2's role in organ regenerative potential.
29 citations
,
July 2014 in “PloS one” In this study, Meis1 was found to regulate epidermal homeostasis and act as a proto-oncogenic factor in skin tissues, with differences in expression patterns between normal and tumor cells.
March 2011 in “Open Archive (Karolinska Institutet)” This study explored the effects of a common Hutchinson-Gilford progeria syndrome mutation in an inducible mouse model, revealing skin abnormalities similar to those in affected patients.
79 citations
,
October 2003 in “PubMed” In this study, PKCepsilon transgenic mice showed increased TNFalpha shedding during skin tumor promotion, which may contribute to the development of metastatic squamous cell carcinoma.
92 citations
,
January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.