44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified numerous size polymorphisms in the human ultrahigh sulfur KAP4 genes due to intragenic sequence variations, suggesting these polymorphisms may have arisen through deletions and duplications during evolution.
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.
22 citations
,
September 2000 in “Journal of Investigative Dermatology” This study found that mu-crystallin gene expression in mouse skin is highest during the anagen phase of hair development, suggesting its possible role in hair follicle growth.
1 citations
,
January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
226 citations
,
January 2006 in “International review of cytology” Keratin-associated proteins are crucial for hair strength and structure.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
11 citations
,
November 1991 in “Journal of Neuropathology & Experimental Neurology” This study found that brindled mottled mice, a model of Kinky hair syndrome, exhibited abnormal development of catecholamine neurons, with increased TH-immunoreactive neurons and altered neurochemical profiles compared to controls.
438 citations
,
October 2010 in “Oncogene” This review discusses the role of keratins in epithelial cell stress protection and cancer, highlighting their potential as multifunctional regulators and diagnostic markers, without presenting new research findings.
35 citations
,
January 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.
52 citations
,
October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
1398 citations
,
May 2008 in “Histochemistry and Cell Biology” This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
317 citations
,
August 1997 in “The Plant Journal” This study observed that while calcium influx does not initiate root hairs in Arabidopsis thaliana, it may be crucial for sustaining their elongation through elevated calcium levels at the root hair tip.
32 citations
,
November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.
25 citations
,
February 2021 in “Diabetes” This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.
24 citations
,
April 2022 in “International Journal of Molecular Sciences” This study found that TRPV4 activation induced massive exocytosis and cellular changes associated with ferroptosis in melanoma cells, highlighting a potential role for TRPV4 in mediating these processes.
March 2026 in “Virulence” This narrative review suggests that intermediate filaments like vimentin and keratin play a significant role in various stages of viral infection, presenting potential antiviral intervention targets.
6 citations
,
January 2015 in “Biochemical Society Transactions” This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.
3 citations
,
March 2023 in “International journal of molecular sciences” This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.
27 citations
,
July 1997 in “PubMed” This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.
13 citations
,
January 2002 in “Biological chemistry” This study found that hair follicle-specific keratins can form different structural assemblies depending on ionic conditions, with hair cortex keratins requiring physiological salt conditions to form intermediate filaments.
37 citations
,
May 1998 in “Journal of Dermatological Science” Basal cell carcinoma shows keratin patterns similar to undifferentiated hair follicle cells.
4 citations
,
January 2004 in “Biological and Pharmaceutical Bulletin” In this study, AgK114 was found to be transiently induced in hamster epidermal keratinocytes following skin damage, suggesting its role in the recovery process after injury.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
81 citations
,
February 2014 in “EMBO molecular medicine” This study found that prolonged Nrf2 activation in mouse keratinocytes led to enlarged sebaceous glands, hair loss, and cysts, suggesting a role for Nrf2 in conditions like MADISH.
69 citations
,
October 2013 in “Tissue Engineering Part A” This study found that using a keratin hydrogel scaffold as a filler in collagen nerve conduits significantly improved nerve regeneration and motor recovery in Macaca fascicularis monkeys compared to saline.
13 citations
,
November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.