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1 Blumenthal, Donald K.Effects of deletions in the central helix of calmodulin on enzyme activation and peptide binding.Using site-directed mutagenesis we have expressed in Escherichia coli three engineered calmodulins (CaM) containing deletions in the solvent-exposed region of the central helix. These are CaM delta 84, Glu-84 removed; CaM delta 83-84, Glu-83 and Glu-84 removed; and CaM delta 81-84, Ser-81 through Gl...Drug Effects; Genetics; Metabolism1989-05-15
2 O'Rourke, Dennis H.Refutation of the general single locus model for the etiology of schizophreniaAll published studies on the familial incidence of schizophrenia appropriate for testing the applicability of the general single-locus two-allele model are examined under the assumption of a unitary etiology for all schizophrenia. We show that the single major locus model is inadequate to predict th...Genetics; Diseases in Twins; Chromosome Mapping1982
3 Poulter, Charles DaleFarnesyl diphosphate synthetase: molecular cloning, sequence, and expression of an essential gene from Saccharomyces cerevisiaeFarnesyl diphosphate (FPP) synthetase is a key enzyme in isoprenoid biosynthesis which supplies C15 precursors for several classes of essential metabolites including sterols, dolichols, and ubiquinones. The structural gene for FPP synthetase was isolated on a 4.5-kilobase EcoRI genomic restriction f...Genetics; Transferases; Dimethylallyltranstransferase/biosynthesis1989-11-15
4 Zhang, KangNovel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophyPURPOSE. To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutationMacular dystrophy; ELOVL4 mutation; Genetics2004
5 Plutynski, AnyaExplanation in classical population geneticsThe recent literature in Philosophy; of biology has drawn attention to the different sorts of explanations proffered in the biological sciences--we have molecular, biomedical, and evolutionary explanations. Do these explanations all have a common structure or relation that they seek to capture? This...Biology, Philosophy;; Explanation; Genetics; Life sciences; Population genetics; Science2005-12
6 Poulter, Charles DaleIsolation of Schizosaccharomyces pombe isopentenyl diphosphate isomerase cDNA clones by complementation and synthesis of the enzyme in Escherichia coliIsopentenyl diphosphate (IPP) isomerase catalyzes an essential activation step in the isoprene biosynthetic pathway. The Saccharomyces cerevisiae gene for IPP isomerase, IDI1, was recently isolated and characterized (Anderson, M. S., Muehlbacher, M., Street, I. P., Proffitt, J., and Poulter, C. D. (...Carbon-Carbon; Biosynthesis; Genetics1995-05-12
7 Blumenthal, Donald K.Identification of molecular sites on factor VII which mediate its assembly and function in the extrinsic pathway activation complex.Factor VII-VIIa, in association with tissue factor, participates in the complex which initiates blood coagulation through the extrinsic pathway. To identify functional domains on factor VII which mediate the activation of factor X, 16 synthetic peptides corresponding to 55% of the primary structure ...Genetics; Biosynthesis; Pharmacology1991-01-15
8 Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J.Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co...Genetics; Biosynthesis; SCA7 Gene1998-03-07
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