November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
3 citations
,
July 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that K17−/− mice suffered more severe hair follicle damage but showed reduced epidermal inflammation after ionizing radiation, with K17's absence leading to aberrant cell cycle progression due to altered p53 genome binding and reduced B-Myb degradation.
23 citations
,
May 2013 in “Virology” This study found that HPV16 oncogene expression in multipotent epithelial stem cells led to abnormal mobilization, altering their quiescence without affecting other stem cell markers, suggesting a distinct stem cell compartment.
26 citations
,
February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
132 citations
,
February 2002 in “Journal of Biological Chemistry” This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
318 citations
,
October 1998 in “The Journal of Cell Biology” This study found that ectopic expression of the lymphoid-enhancer factor can induce K17 protein in the skin, suggesting a link between skin development and wound repair processes in mice.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
8 citations
,
January 2013 in “genesis” This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.
12 citations
,
January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
58 citations
,
July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
53 citations
,
October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
119 citations
,
September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.
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.
35 citations
,
June 2012 in “PloS one” This study suggests that Keratin 15 expression in stratified epithelia may be regulated by two distinct mechanisms involving PKC/AP-1 pathway for differentiation and FOXM1 for basal cells, challenging its reliability as a sole stem cell marker.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
May 2006 in “The Journal of Cell Biology” In this study, researchers at Johns Hopkins University found that Keratin 17 plays a signaling role in cell growth during a wound response by aiding mTOR pathway activation, beyond its structural functions.
79 citations
,
October 1998 in “Genomics” This study found that the mK6alpha and mK6beta genes in mice are regulated differently at the mRNA level, with implications for understanding K6 gene evolution and function in mammals.
77 citations
,
February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
5 citations
,
July 2014 in “Molecular Biology Reports”
17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” This review summarizes recent findings on keratins 6, 16, and 17, highlighting their role in keratinocyte behavior and nuclear functions, and discusses their potential as biomarkers for various skin pathologies, including damage, inflammation, and cancer, rather than in healthy skin.
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.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”