2 citations
,
May 2019 in “Small ruminant research” This study identified polymorphisms in HGT-KRTAP7-1 and KRTAP8-1 genes in Argentine llamas that may impact fiber characteristics by altering amino acid residues critical for keratin-associated protein properties.
1 citations
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April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
November 2025 in “Cancer Management and Research” This study highlighted Keratin 17's critical role in cancer therapy resistance across several malignancies, involving various signaling pathways, and identified it as a significant biomarker and potential therapeutic target, particularly in reversing resistance.
2 citations
,
May 2023 in “Cancer medicine” This review reports that KRT80 is overexpressed in various cancers, enhancing cancer cell proliferation, invasiveness, and migration, suggesting it as a potential therapeutic target, though more clinical studies are needed to fully understand its role in cancer prognosis.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
33 citations
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May 2018 in “Stem Cell Reports” This study demonstrates that Krt15 marks long-lived, multipotent, and injury-resistant crypt cells in the small intestine, which may serve as the cell of origin in intestinal cancer.
3 citations
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January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
November 2013 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Keratin 79 cells help form and regenerate hair canals.
2 citations
,
January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
1 citations
,
August 2024 in “Animals” This study suggests that variations in α-keratin proteins influence the structure and characteristics of wool fibers, indicating that keratin genes could serve as useful markers for identifying different wool traits.
10 citations
,
January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
September 2022 in “Canadian journal of animal science” This study found that polymorphisms in KRTAP13.1, KRTAP27-1, and KRTAP24-1 were significantly associated with fiber diameter in Jiangnan cashmere goats, which may aid future breeding and conservation efforts.
4 citations
,
August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
July 2017 in “Cancer Research” This study identified a radio-resistant population of Krt15+ stem cells in the mouse small intestine that can initiate tumors, suggesting potential targets for colon cancer therapy.
47 citations
,
September 2004 in “Journal of Biological Chemistry” This study provides evidence supporting a regulatory relationship between the transcriptional regulator Hoxc13 and Krtap16 genes, which are crucial for proper hair growth in mice.
3 citations
,
December 2013 in “Journal of Cell Science” This study found that K79+ keratinocytes migrate outward to help form the hair follicle lumen both during development and adult regeneration, revealing a novel mechanism of hair follicle formation in mice.
5 citations
,
March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
March 2025 in “International Journal of Molecular Sciences” This study established a Krt24-CreERT2 mouse line targeting outer bulge hair follicle stem cells, finding these cells crucial for hair follicle development and repair, particularly following ionizing radiation exposure.
8 citations
,
September 2020 in “Genes & Genomics” 15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
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.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.