Search Results - "Morris, CP"
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DRD2/ANKK1 Taq1A (rs 1800497 C>T) genotypes are associated with susceptibility to second generation antipsychotic-induced akathisia
Published in Journal of psychopharmacology (Oxford) (01-04-2013)“…Although the advent of atypical, second-generation antipsychotics (SGAs) has resulted in reduced likelihood of akathisia, this adverse effect remains a…”
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2
Haemochromatosis and HLA-H
Published in Nature genetics (01-11-1996)“…The recently identified candidate gene, HLA-H, for haemochromatosis (HH) by Feder et al. generated considerable scientific interest coupled with a degree of…”
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3
The C/C genotype of the C957T polymorphism of the dopamine D2 receptor is associated with schizophrenia
Published in Schizophrenia research (01-02-2005)“…The T allele of the human dopamine D2 receptor (DRD2) gene C957T polymorphism is associated with reduced mRNA translation and stability. This results in…”
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4
Speech therapy in the treatment of globus pharyngeus: how we do it
Published in Clinical otolaryngology (01-08-2011)Get full text
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5
Expression analysis of a human hepatic cell line in response to palmitate
Published in Biochemical and biophysical research communications (11-03-2005)“…Saturated fat plays a role in common debilitating diseases such as obesity, type 2 diabetes, and coronary heart disease. It is also clear that certain fatty…”
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Molecular genetics of metachromatic leukodystrophy
Published in Human mutation (1994)“…Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the…”
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Hunter Syndrome: Isolation of an Iduronate-2-Sulfatase cDNA Clone and Analysis of Patient DNA
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-1990)“…Iduronate 2-sulfatase (IDS, EC 3.1.6.13) is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations causing IDS deficiency in…”
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Importance of the Glycosylation and Polyadenylation Variants in Metachromatic Leukodystrophy Pseudodeficiency Phenotype
Published in Human molecular genetics (01-08-1998)“…Metachromatic leukodystrophy (MLD) is an inborn error of myelin metabolism caused by a deficiency of the lysosomal hydrolase, arylsulfatase A (ASA). About 1%…”
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A sensitive mutation screening strategy for Fabry disease: Detection of nine mutations in the α-galactosidase A gene
Published in Human mutation (1996)“…Fabry disease is an X‐linked recessive lysosomal storage disorder caused by a deficiency of α‐galactosidase A (α‐gal; EC 3.2.1.22). In the past, it has been…”
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10
Human α-L-Iduronidase: cDNA Isolation and Expression
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-1991)“…α-L-Iduronidase (IDUA; EC 3.2.1.76) is a lysosomal hydrolase in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate…”
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Sequence of the human iduronate 2-sulfatase (IDS) gene
Published in Genomics (San Diego, Calif.) (01-09-1993)“…Deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS; EC 3.1.6.13) results in the storage of the glycosaminoglycans heparan sulfate and dermatan…”
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12
Solid-Phase Amplification for Detection of C282Y and H63D Hemochromatosis (HFE) Gene Mutations
Published in Clinical chemistry (Baltimore, Md.) (01-08-2001)“…There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube…”
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13
Altered responses of human macrophages to lipopolysaccharide by hydroperoxy eicosatetraenoic acid, hydroxy eicosatetraenoic acid, and arachidonic acid. Inhibition of tumor necrosis factor production
Published in The Journal of clinical investigation (15-03-1997)“…The regulation of allergic and autoimmune inflammatory reactions by polyunsaturated fatty acids and their metabolic products (eicosanoids) continues to be of…”
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Structure and sequence of the human alpha-L-iduronidase gene
Published in Genomics (San Diego, Calif.) (01-08-1992)“…In humans, a deficiency of the lysosomal hydrolase alpha-L-iduronidase (IDUA;EC 3.2.1.76) results in the lysosomal storage of the glycosaminoglycans heparan…”
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Identification of mutations in the α-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes
Published in American journal of human genetics (01-11-1993)“…Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the lysosomal glycosidase alpha-L-iduronidase. Hurler…”
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16
The factor V HR2 haplotype: prevalence and association of the A4070G and A6755G polymorphisms
Published in Blood coagulation & fibrinolysis (01-04-2001)“…Recently, a polymorphism was identified in exon 25 of the factor V gene that is possibly a functional candidate for the HR2 haplotype. This haplotype is…”
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Interrogation of multimeric DNA amplification products by competitive primer extension using bst DNA polymerase (large fragment)
Published in BioTechniques (01-11-2001)“…Linear dsDNA composed of tandem repeats may be exponentially amplified by the strongly strand-displacing Bst DNA polymerase (large fragment) and two primers…”
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Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome)
Published in Human molecular genetics (01-11-1993)“…Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases…”
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The mucopolysaccharidoses. Diagnosis, molecular genetics and treatment
Published in Molecular biology & medicine (01-10-1990)Get more information
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Long‐term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype
Published in Journal of inherited metabolic disease (01-11-1993)“…Summary Two mucopolysaccharidosis type I (MPS‐I) patients, subjected to bone marrow transplantation (BMT) more than 10 years ago, have recently had their…”
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