213 citations
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June 2017 in “Rheumatology” This guideline outlines the management of systemic lupus erythematosus in adults but reports no new clinical findings.
1 citations
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February 2025 in “Frontiers in Medicine” This study found that patients with juvenile-onset systemic lupus erythematosus have a high prevalence of endocrine and metabolic comorbidities, particularly dyslipidemia and obesity-related issues, suggesting the need for routine monitoring and obesity prevention.
May 2025 in “Cermin Dunia Kedokteran” This study highlights that early detection and tailored treatment based on kidney biopsy classification are crucial in managing lupus nephritis to prevent progression to end-stage kidney disease, with a focus on saving nephron cells.
December 2023 in “Scientific reports” This study assessed three lactic acid bacteria-fermented proteins and found that F-WPI and F-SPI could normalize osteoclastogenesis markers in vitro, while F-SPI enhanced osteoblastogenesis markers, suggesting potential as dietary supplements for osteoporosis prevention, though further research into mechanisms is needed.
January 2013 in “Heilongjiang xumu shouyi” This study successfully cloned the KAP6.1 gene from Xinjiang fine-wool sheep and found its genetic sequence has high homology with sheep and goat sequences, indicating close genetic relationships.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
3 citations
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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.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
May 2015 in “Endocrinología y nutrición” This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.
March 2026 in “Pharmaceuticals” This study establishes a robust analytical method using mass spectrometry to comprehensively identify 170 chemical compounds in Xiaoban Kangfu capsules for enhanced quality control.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
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.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
32 citations
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January 2020 in “Journal of Molecular Histology” This research identified K31 as a new marker for distinguishing clear secretory cells in human eccrine sweat glands, aiding in differentiating between distinct cell types within these glands.
79 citations
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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.
19 citations
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November 2016 in “Developmental Biology” 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.
11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
75 citations
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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.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
April 2024 in “Anais Brasileiros de Dermatologia” 49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
May 2025 in “Proceedings of the National Academy of Sciences” In this study, researchers found that the histone demethylase UTX is crucial for regulating skin differentiation through retinoic acid signaling, mainly impacting females, as males compensate with a Y-linked paralog.
139 citations
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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.
4 citations
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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.
23 citations
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January 2018 in “Biological and Pharmaceutical Bulletin” In this study, YK11 was found to promote osteoblast cell proliferation and differentiation through activation of non-genomic signaling pathways in mouse osteoblast cells.
32 citations
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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.