November 2006 in “評価・診断に関するシンポジウム講演論文集” This study found that KSR1 is essential for v-Ha-ras-mediated skin tumor formation in mice but not for MT-driven mammary tumor genesis, suggesting its potential as a therapeutic target in Ras/MAPK signaling.
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.
57 citations
,
July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
January 2025 in “Scholarly Commons (University of Pennsylvania)” This study found that the X-linked gene UTX is crucial for regulating skin differentiation and inflammation in females by affecting retinoic acid signaling, also highlighting potential links to sex disparities in skin diseases.
12 citations
,
July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
15 citations
,
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.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
March 2021 in “AACE clinical case reports” This case study reports a rare combination of primary hyperparathyroidism with Klinefelter syndrome in a 44-year-old male, highlighting an unusual KS mosaicism with a mild phenotype.
March 2024 in “Poster presentations” This case report describes a 43-year-old woman diagnosed with both Kikuchi-Fujimoto disease and systemic lupus erythematosus, who showed clinical improvement after treatment with glucocorticoids and hydroxychloroquine, highlighting the rare coexistence of these conditions and the ongoing uncertainty about the precise cause of Kikuchi-Fujimoto disease.
3 citations
,
September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that enhanced wound healing in oral mucosa involves a SOX2-regulated transcriptional network which includes increased expression of keratin K75, and interaction of K75 with the LINC complex may play a crucial role in promoting rapid wound repair.
5 citations
,
July 2014 in “Molecular Biology Reports” 1 citations
,
January 2015 in “China Animal Husbandry & Veterinary Medicine” This study identified four keratin genes associated with hair follicle development that were expressed more highly in super fine wool Xinji sheep compared to fine wool sheep.
March 2026 in “World Rabbit Science” This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
February 2026 in “Pharmaceuticals” This study introduced the KRDQN predictive framework, which outperformed existing methods in predicting adverse drug reactions and provided interpretable insights into drug mechanisms, aiding pharmacovigilance and clinical decision-making.
101 citations
,
August 2001 in “The Journal of Cell Biology” This study found that while most mice lacking MK6a and MK6b genes died from tongue epithelium disintegration, about 25% survived and showed no hair or nail defects due to a newly discovered MK6hf gene.
3 citations
,
January 2023 in “American journal of physiology. Cell physiology” This editorial reviews the roles and therapeutic potential of inward rectifying K+ channels in various physiological processes, highlighting their importance in health and disease but provides no new experimental results.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
46 citations
,
May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
2 citations
,
April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
13 citations
,
March 2021 in “British Journal of Pharmacology” This study found that KY19382 can effectively promote hair regeneration and follicle neogenesis in mice and human hair models by activating Wnt/β-catenin signalling, suggesting potential use for alopecia treatment.
86 citations
,
May 2005 in “Seminars in Arthritis and Rheumatism” This review identified distinguishing features of adult Kawasaki Disease compared to pediatric cases, noting more favorable prognosis in adults with fewer cardiovascular complications and no fatalities, although it remains a rare and often unrecognized condition.
2 citations
,
July 2019 in “PLOS ONE” This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
April 2023 in “Journal of Investigative Dermatology” This study found that KROX20 is crucial for hair follicle development and epidermal homeostasis, as its deletion in skin epithelial cells led to hair loss and increased epidermal thickness.
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.
1 citations
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January 1980 in “Computer Physics Communications” 4 citations
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December 2024 in “Protein & Cell” MultiKano accurately identifies cell types in complex data better than existing methods.
29 citations
,
June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.