Search Results - "Nobukuni, Y"
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Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A
Published in American journal of human genetics (01-07-1996)“…Waardenburg syndrome type 2 (WS2) is a dominantly inherited disorder characterized by a pigmentation anomaly and hearing impairment due to lack of melanocyte…”
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Experimental Exploration for Genes Related to Susceptibility and Resistance to Irinotecan
Published in Anticancer research (01-08-2022)“…Background/Aim: Anticancer drug resistance is an important issue in cancer treatment. Multiple genes are thought to be involved in resistance to anticancer…”
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A late-appearing Philadelphia chromosome in acute lymphoblastic leukemia confirmed by expression of BCR-ABL mRNA
Published in Leukemia (01-10-1995)“…We report two cases of acute lymphoblastic leukemia (ALL) with a late-appearing Philadelphia chromosome (Ph1), confirmed by the expression of BCR-ABL mRNA,…”
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Structural organization and chromosomal localization of the gene for the E1 beta subunit of human branched chain alpha-keto acid dehydrogenase
Published in The Journal of biological chemistry (05-08-1991)“…A defect in the E1 beta subunit of the branched chain alpha-keto acid dehydrogenase (BCKDH) complex is one cause of maple syrup urine disease (MSUD). In an…”
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Assignment of the gene for a ubiquitin-conjugating enzyme (UBE2I) to human chromosome band 16p13.3 by in situ hybridization
Published in Cytogenetics and cell genetics (01-01-1996)Get more information
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Gene analysis of mennonite maple syrup urine disease kindred using primer‐specified restriction map modification
Published in Journal of inherited metabolic disease (01-03-1992)“…Summary Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E1α, E1β or E2, of the…”
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Cancer chemopreventive activity of carotenoids in the fruits of red paprika Capsicum annuum L
Published in Cancer letters (30-10-2001)“…Capsanthin and related carotenoids isolated from the fruits of red paprika Capsicum annuum L. showed potent in vitro anti-tumor-promoting activity with…”
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Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance
Published in Human molecular genetics (2000)“…MITF (microphthalmia-associated transcription factor) is a basic-helix-loop-helix-leucine zipper (bHLHZip) factor which regulates expression of tyrosinase and…”
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Maple syrup urine disease: Clinical and biochemical significance of gene analysis
Published in Journal of inherited metabolic disease (01-09-1991)Get full text
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Gene Trap Mutagenesis-based Forward Genetic Approach Reveals That the Tumor Suppressor OVCA1 Is a Component of the Biosynthetic Pathway of Diphthamide on Elongation Factor 2
Published in The Journal of biological chemistry (18-03-2005)“…OVCA1 is a tumor suppressor identified by positional cloning from chromosome 17p13.3, a hot spot for chromosomal aberration in breast and ovarian cancers. It…”
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Inhibition of Tumor-Promoting Effects by Poricoic Acids G and H and Other Lanostane-Type Triterpenes and Cytotoxic Activity of Poricoic Acids A and G from Poria cocos
Published in Journal of natural products (Washington, D.C.) (01-04-2002)“…The structures of two novel 3,4-seco-lanostane-type triterpenes isolated from the sclerotium of Poria cocos were established to be…”
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Cancer chemopreventive activity of Achyranthes aspera leaves on Epstein–Barr virus activation and two-stage mouse skin carcinogenesis
Published in Cancer letters (08-03-2002)“…Achyranthes aspera leaves have been assessed for chemopreventive activity. The MeOH extract, alkaloid, non-alkaloid and saponin fractions exhibited significant…”
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Ectopic expression of MITF , a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics
Published in Nature genetics (01-09-1996)“…MITF (microphthalmia-associated transcription factor) encodes a transcription factor with a basic-helix-loop-helix-zipper (bHLH-Zip) motif. MITF mutations…”
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Interiotherins C and D, Two New Lignans from Kadsura interior and Antitumor-Promoting Effects of Related Neolignans on Epstein−Barr Virus Activation
Published in Journal of natural products (Washington, D.C.) (01-09-2002)“…Two new lignans, interiotherins C (1) and D (2), together with the known compounds interiorin (3), heteroclitin F (4), neokadsuranin (5), heteroclitin D (6),…”
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Nonthermal effects of mobile-phone frequency microwaves on uteroplacental functions in pregnant rats
Published in Reproductive toxicology (Elmsford, N.Y.) (01-05-2003)“…Exposure to high-density microwaves can cause detrimental effects on the testis, eye, and other tissues, and induce significant biologic changes through…”
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Gene analysis of maple syrup urine disease (MSUD)
Published in Rinsho byori. The Japanese journal of clinical pathology (01-05-1993)“…Maple syrup urine disease (MSUD), an autosomal recessive hereditary metabolic disorder, is due to defective oxidative decarboxylation of the branched-chain…”
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Chemopreventive effects of emodin and cassiamin B in mouse skin carcinogenesis
Published in Cancer letters (28-08-2002)“…In continuation of our works of natural and synthetic products as cancer chemopreventive agents, we have examined emodin and cassiamin B, which were isolated…”
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