Search Results - "Yuasa, I."
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Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation
Published in Clinical genetics (01-05-2015)“…The conserved oligomeric Golgi (COG) complex is involved in intra‐Golgi retrograde trafficking, and mutations in six of its eight subunits have been reported…”
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2
Distinct C‐terminus of the B subunit of factor XIII in a population‐associated major phenotype: the first case of complete allele‐specific alternative splicing products in the coagulation and fibrinolytic systems
Published in Journal of thrombosis and haemostasis (01-07-2009)“…Objectives: The purpose of this study was to elucidate the molecular bases of the heterogeneity of the B subunit of coagulation factor XIII (FXIII‐B),…”
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3
Protective effect of gamma-aminobutyric acid (GABA) against cytotoxicity of ethanol in isolated rat hepatocytes involves modulations in cellular polyamine levels
Published in Amino acids (01-04-2007)“…Gamma-aminobutyric acid (GABA) is considered to be a multifunctional molecule with various physiological effects throughout the body. It is also evident that…”
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Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder‐Haplotype Analysis
Published in Annals of human genetics (01-11-2006)“…Summary The membrane‐associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP…”
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Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes
Published in Biochemical genetics (01-08-2007)“…Very little is known about the genes and mechanisms affecting skin lightening in Asian populations. In this study, two coding SNPs, c.G1129A (R163Q) at the…”
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Cellular thiol status-dependent inhibition of tumor cell growth via modulation of p27(kip1) translocation and retinoblastoma protein phosphorylation by 1'-acetoxychavicol acetate
Published in Amino acids (01-09-2007)“…1'-Acetoxychavicol acetate (ACA) has been shown to inhibit tumor cell growth, but there is limited information on its effects on cell signaling and the cell…”
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7
Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency
Published in The Journal of biological chemistry (15-03-1993)“…The structure of over 93% of the sugar chains of serum transferrin purified from three patients with carbohydrate-deficient glycoprotein (CDG) syndrome was…”
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Cellular thiol status-dependent inhibition of tumor cell growth via modulation of p27kip¹ translocation and retinoblastoma protein phosphorylation by 1'-acetoxychavicol acetate
Published in Amino acids (01-09-2007)“…1'-Acetoxychavicol acetate (ACA) has been shown to inhibit tumor cell growth, but there is limited information on its effects on cell signaling and the cell…”
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9
Haplotype analysis of the human α2-HS glycoprotein (fetuin) gene
Published in Annals of human genetics (01-01-2001)“…Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles…”
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The Human Complement Component C1R Gene: The Exon‐intron Structure and the Molecular Basis of Allelic Diversity
Published in Annals of human genetics (01-05-2003)“…Summary Human C1r is a component of the complement system, which is a major mediator of innate immunity. In this study we investigated the exon‐intron…”
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DXS10011: a hypervariable tetranucleotide STR polymorphism on the X chromosome
Published in International journal of legal medicine (2000)“…The locus DXS10011 is a polymorphic system with a tetranucleotide repeat sequence located on the human X chromosome. The distribution of allele frequencies was…”
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Characterization of genomic rearrangements of the α1-acid glycoprotein/orosomucoid gene in Ghanaians
Published in Journal of human genetics (01-10-2001)“…In this study, the structure of the α1-acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an…”
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Genotyping of the ABO blood group system: analysis of nucleotide position 802 by PCR-RFLP and the distribution of ABO genotypes in a German population
Published in International journal of legal medicine (01-10-1996)“…Genotypes of the ABO blood group system were studied by PCR-RFLP analysis of the eight polymorphic nucleotide positions (nps) 261, 467, 526, 646, 703, 796, 802…”
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Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1
Published in Clinical genetics (01-01-1999)“…Carbohydrate‐deficient glycoprotein syndrome type 1 (CDG1) (MIM: 212065) is an autosomal recessive disorder with psychomotor retardation, strokelike episodes,…”
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Induction of apoptosis in CTLL-2 cells by protocatechualdehyde
Published in Anticancer research (01-03-2001)“…The purpose of this study was to investigate the possible molecular mechanisms of the antiproliferative effect induced by protocatechualdehyde (PA, a…”
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A case of an infant with extremely low birth weight and hypothyroidism associated with massive cutaneous infantile hemangioma
Published in Journal of pediatric endocrinology & metabolism : JPEM (19-12-2018)“…Background Although hepatic infantile hemangioma (IH) may correlate with consumptive hypothyroidism consequent to the overexpression of thyroid hormone…”
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Polyamines and thiols in the cytoprotective effect of L-cysteine and L-methionine on carbon tetrachloride-induced hepatotoxicity
Published in Amino acids (01-01-2000)“…The relationship between cellular glutathione (GSH), protein-SH levels, and lactate dehydrogenase (LDH), with respect to the effect of polyamines on the…”
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Molecular analysis of the human orosomucoid gene ORM1Q0köln responsible for incompatibility in a German paternity case
Published in International journal of legal medicine (2000)“…In a German paternity test, an alleged father was excluded only by reverse homozygosity of ORM1 phenotypes (mother ORM1 S, child ORM1 S and alleged father ORM1…”
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Orosomucoid system: 17 additional orosomucoid variants and proposal for a new nomenclature
Published in Vox sanguinis (1993)“…There are two forms of orosomucoid (ORM) in the sera of most individuals. They are encoded by two separate but closely linked loci, ORM1 and ORM2. A number of…”
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Geographical North-South Decline in DNASE12 in Japanese Populations
Published in Human biology (01-02-2001)“…Allele frequencies for human deoxyribonuclease I (DNase I) phenotypes were determined using blood samples from about 2000 Japanese subjects living in nine…”
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