Search Results - "Hopkins, Penelope J."
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Associations Between Drug Metabolism Genotype, Chemotherapy Pharmacokinetics, and Overall Survival in Patients With Breast Cancer
Published in Journal of clinical oncology (01-09-2005)“…To evaluate associations between patient survival, pharmacokinetics, and drug metabolism-related genetic polymorphisms in patients receiving a combination…”
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Population distribution and effects on drug metabolism of a genetic variant in the 5′ promotor region of CYP3A4
Published in Clinical pharmacology and therapeutics (01-09-1999)“…Background There are large interindividual differences in CYP3A4 expression and in the metabolism of drug substrates for this enzyme. We and others have…”
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Relation between tumour necrosis factor polymorphism TNFα-308 and risk of asthma
Published in European journal of human genetics : EJHG (01-01-2002)Get full text
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X-Linked Chronic Granulomatous Disease: Mutations in the CYBB Gene Encoding the gp91- phox Component of Respiratory-Burst Oxidase
Published in American journal of human genetics (01-06-1998)“…Chronic granulomatous disease (CGD) is a hereditary disorder of host defense due to absent or decreased activity of phagocyte NADPH oxidase. The X-linked form…”
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A genome-wide search for schizophrenia susceptibility genes
Published in American journal of medical genetics (07-09-1998)“…We completed a systematic genome‐wide search for evidence of loci linked to schizophrenia using a collection of 70 pedigrees containing multiple affected…”
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Separation of Simulants of Biological Warfare Agents from Blood by a Miniaturized Dielectrophoresis Device
Published in Biomedical microdevices (01-09-2003)“…Separation of simulants of biological warfare agents from blood using dielectrophoresis (DEP) was demonstrated in a miniaturized DEP device. The device was…”
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Use of wild-type p53 to achieve complete treatment sensitization of tumor cells expressing endogenous mutant p53
Published in Molecular carcinogenesis (01-12-1995)“…It is known that transfer of the wild-type p53 gene into p53-negative cells from transgenic mice increases their sensitivity to drug and radiation-induced…”
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Mutation Creates an Open Reading Frame Within the 5' Untranslated Region of Macaque Erythrocyte Carbonic Anhydrase (CA) I mRNA That Suppresses CA I Expression and Supports the Scanning Model for Translation
Published in Proceedings of the National Academy of Sciences - PNAS (15-09-1992)“…A variant allele at the CA I locus that produces a deficiency of erythrocyte-specific CA I occurs as a widespread polymorphism in pigtail macaques from…”
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Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations
Published in American journal of human genetics (2000)“…Single-nucleotide polymorphisms (SNPs) may be extremely important for deciphering the impact of genetic variation on complex human diseases. The ultimate value…”
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A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease
Published in The Journal of clinical investigation (15-10-1997)“…The predominant genetic defect causing p47-phox-deficient chronic granulomatous disease (A47 degrees CGD) is a GT deletion (DeltaGT) at the beginning of exon…”
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Linkage of Bipolar Affective Disorder to Chromosome 18 Markers in a New Pedigree Series
Published in American journal of human genetics (01-12-1997)“…Several groups have reported evidence suggesting linkage of bipolar affective disorder (BPAD) to chromosome 18. We have reported data from 28 pedigrees that…”
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Relation between tumour necrosis factor polymorphism TNF[alpha]-308 and risk of asthma
Published in European journal of human genetics : EJHG (01-01-2002)“…Tumour necrosis factor (TNF) alpha affects immune response and airway inflammation, which are characteristics of asthma. Genetic factors may impact TNFalpha…”
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Relation between tumour necrosis factor polymorphism TNFalpha-308 and risk of asthma
Published in European journal of human genetics : EJHG (01-01-2002)“…Tumour necrosis factor (TNF) alpha affects immune response and airway inflammation, which are characteristics of asthma. Genetic factors may impact TNFalpha…”
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Relation between tumour necrosis factor polymorphism TNFa-308 and risk of asthma
Published in European journal of human genetics : EJHG (01-01-2002)“…Tumour necrosis factor (TNF) alpha affects immune response and airway inflammation, which are characteristics of asthma. Genetic factors may impact TNFa…”
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Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558
Published in The Journal of clinical investigation (01-09-1994)“…We examined the molecular defect in two kindreds with "variant" X-linked chronic granulomatous disease (CGD). Western blots of neutrophil extracts showed…”
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Studying X inactivation
Published in The Lancet (British edition) (21-03-1992)Get more information
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Origins and molecular evolution of the carbonic anhydrase isozymes
Published in Annals of the New York Academy of Sciences (01-01-1984)“…Work on membrane-bound and subcellular forms of CA at the protein level, and the possibility of multiple forms of the mouse CA II gene at the DNA level,…”
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Characterization of the gene encoding carbonic anhydrase I from the pigtail macaque
Published in Gene (23-01-1995)“…The structure of the gene encoding carbonic anhydrase I (CA I) was determined for the pigtail macaque Macaca nemestrina. When the deduced amino-acid sequence…”
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Chronic granulomatous disease: diagnosis and classification at the molecular level
Published in Clinics in laboratory medicine (01-06-1992)“…Chronic granulomatous disease (CGD) is caused by the failure of phagocytes to produce microbicidal derivatives of molecular oxygen, such as hydrogen peroxide…”
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