Search Results - "Naruse, Hiromu"
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Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients
Published in Journal of human genetics (01-12-2019)“…Lynch syndrome (LS) is an autosomal dominantly inherited disease predisposed to not only colorectal cancer but also other LS-related tumors. Although the…”
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Progress and issues of the genome-wide association study for hypertension
Published in Current medicinal chemistry (01-01-2015)“…Over the past few years, use of the genome-wide association study (GWAS) has made it possible to identify the primary genetic mechanisms of essential…”
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Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene
Published in Internal Medicine (01-06-2018)“…Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn disruption in bile acid synthesis characterized by severe systemic xanthomas,…”
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Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)
Published in Acta medica Okayama (01-04-2020)“…Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) is an autosomal dominant genetic disorder that causes frequent epistaxis,…”
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Correction: Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients
Published in Journal of human genetics (01-07-2020)“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Effects of Peripheral Cannabinoid Receptor Ligands on Motility and Polarization in Neutrophil-like HL60 Cells and Human Neutrophils
Published in The Journal of biological chemistry (05-05-2006)“…The possible role of the peripheral cannabinoid receptor (CB2) in neutrophil migration was investigated by using human promyelocytic HL60 cells differentiated…”
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Validation of the revised 2008 WHO diagnostic criteria in 75 suspected cases of myeloproliferative neoplasm
Published in Leukemia & lymphoma (01-01-2008)“…The objective of this study was to validate the recently revised 2008 WHO diagnostic criteria of myeloproliferative neoplasms (MPN) together with the analysis…”
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Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay
Published in Familial cancer (01-12-2009)“…Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1 , MSH2 ,…”
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Identification of a novel frameshift c.930delG MEN1 germline mutation (p.Glu273LysfsTer7) in a sporadic case of multiple endocrine neoplasia type 1: A case report
Published in Molecular medicine reports (01-12-2020)“…Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic disorder that is inherited in an autosomal dominant manner. The characteristics of the disease are…”
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Direct molecular evidence for both multicentric and monoclonal carcinogenesis followed by transdifferentiation from hepatocellular carcinoma to cholangiocarcinoma in a case of metachronous liver cancer
Published in Oncology letters (01-01-2022)“…Frequent recurrence is a major issue in liver cancer and histological heterogeneity frequently occurs in this cancer type. However, it has remained elusive…”
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A novel fusion gene involving PDGFRB and GCC2 in a chronic eosinophilic leukemia patient harboring t(2;5)(q37;q31)
Published in Molecular genetics & genomic medicine (01-04-2019)“…Background Platelet‐derived growth factor receptor beta (PDGFRB) rearrangement has been reported in a number of patients with chronic eosinophilic leukemia…”
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