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Results: 1-25 | 26-39
Results: 1-25/39
Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency
Authors: Holzinger, A Roschinger, W Lagler, F Mayerhofer, PU Lichtner, P Kattenfeld, T Thuy, L Nyhan, WL Koch, HG Muntau, AC Roscher, AA
Citation: A. Holzinger et al., Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency, HUM MOL GEN, 10(12), 2001, pp. 1299-1306
The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells
Authors: Burek, C Roth, J Koch, HG Harzer, K Los, M Schulze-Osthoff, K
Citation: C. Burek et al., The role of ceramide in receptor- and stress-induced apoptosis studied in acidic ceramidase-deficient Farber disease cells, ONCOGENE, 20(45), 2001, pp. 6493-6502
Individual blood-brain barrier phenylalanine transport determines clinicaloutcome in phenylketonuria
Authors: Weglage, J Wiedermann, D Denecke, J Feldmann, R Koch, HG Ullrich, K Harms, E Moller, HE
Citation: J. Weglage et al., Individual blood-brain barrier phenylalanine transport determines clinicaloutcome in phenylketonuria, ANN NEUROL, 50(4), 2001, pp. 463-467
High prevalence of the 1278T mutation of the human cystathionine beta-synthase detected by a novel screening application
Authors: Linnebank, M Homberger, A Junker, R Nowak-Goettl, U Harms, E Koch, HG
Citation: M. Linnebank et al., High prevalence of the 1278T mutation of the human cystathionine beta-synthase detected by a novel screening application, THROMB HAEM, 85(6), 2001, pp. 986-988
Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
Authors: Rapp, B Haberle, J Linnebank, M Wermuth, B Marquardt, T Harms, E Koch, HG
Citation: B. Rapp et al., Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts, EUR J PED, 160(5), 2001, pp. 283-287
Homocysteine inhibits tumor necrosis factor-induced activation of endothelium via modulation of nuclear factor-kappa b activity
Authors: Roth, J Goebeler, M Ludwig, S Wagner, L Kilian, K Sorg, C Harms, E Schulze-Osthoff, K Koch, HG
Citation: J. Roth et al., Homocysteine inhibits tumor necrosis factor-induced activation of endothelium via modulation of nuclear factor-kappa b activity, BBA-MOL CEL, 1540(2), 2001, pp. 154-165
Protein traffic in bacteria: Multiple routes from the ribosome to and across the membrane
Authors: Muller, M Koch, HG Beck, K Schaefer, U
Citation: M. Muller et al., Protein traffic in bacteria: Multiple routes from the ribosome to and across the membrane, PROG NUCL A, 66, 2001, pp. 107-157
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia
Authors: Weglage, J Pietsch, M Feldmann, R Koch, HG Zschocke, J Hoffmann, G Muntau-Heger, A Denecke, J Guldberg, P Guttler, F Moller, H Wendel, U Ullrich, K Harms, E
Citation: J. Weglage et al., Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia, PEDIAT RES, 49(4), 2001, pp. 532-536
The RegB/RegA two-component regulatory system controls synthesis of photosynthesis and respiratory electron transfer components in Rhodobacter capsulatus
Authors: Swem, LR Elsen, S Bird, TH Swem, DL Koch, HG Myllykallio, H Daldal, F Bauer, CE
Citation: Lr. Swem et al., The RegB/RegA two-component regulatory system controls synthesis of photosynthesis and respiratory electron transfer components in Rhodobacter capsulatus, J MOL BIOL, 309(1), 2001, pp. 121-138
Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factorfor congenital heart disease
Authors: Junker, R Kotthoff, S Vielhaber, H Halimeh, S Kosch, A Koch, HG Kassenbohmer, R Heineking, B Nowak-Gottl, U
Citation: R. Junker et al., Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factorfor congenital heart disease, CARDIO RES, 51(2), 2001, pp. 251-254
Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene
Authors: Homberger, A Linnebank, M Winter, C Willenbring, H Marquardt, T Harms, E Koch, HG
Citation: A. Homberger et al., Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene, EUR J HUM G, 8(9), 2000, pp. 725-729
Allele association studies with SSR and SNP markers at known physical distances within a 1 Mb region embracing the ALDH2 locus in the Japanese, demonstrates linkage disequilibrium extending up to 400 kb
Authors: Koch, HG McClay, J Loh, EW Higuchi, S Zhao, JH Sham, P Ball, D Craig, IW
Citation: Hg. Koch et al., Allele association studies with SSR and SNP markers at known physical distances within a 1 Mb region embracing the ALDH2 locus in the Japanese, demonstrates linkage disequilibrium extending up to 400 kb, HUM MOL GEN, 9(20), 2000, pp. 2993-2999
Renal Fanconi syndrome: first sign of partial respiratory chain complex IVdeficiency
Authors: Kuwertz-Broking, E Koch, HG Marquardt, T Rossi, R Helmchen, U Muller-Hocker, J Harms, E Bulla, M
Citation: E. Kuwertz-broking et al., Renal Fanconi syndrome: first sign of partial respiratory chain complex IVdeficiency, PED NEPHROL, 14(6), 2000, pp. 495-498
Linkage disequilibrium of the common mutations 677C -> T and 1298A -> C ofthe human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C -> T, 1068C -> T
Authors: Linnebank, M Homberger, A Nowak-Gottl, U Marquardt, T Harms, E Koch, HG
Citation: M. Linnebank et al., Linkage disequilibrium of the common mutations 677C -> T and 1298A -> C ofthe human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C -> T, 1068C -> T, EUR J PED, 159(6), 2000, pp. 472-473
Arthrogryposis, renal tubular dysfunction, cholestasis (ARC)-syndrome: Case report and review of the literature
Authors: Denecke, J Zimmer, KP Kleta, R Koch, HG Rabe, H August, C Harms, E
Citation: J. Denecke et al., Arthrogryposis, renal tubular dysfunction, cholestasis (ARC)-syndrome: Case report and review of the literature, KLIN PADIAT, 212(2), 2000, pp. 77-80
SRP-dependent co-translational targeting and SecA-dependent translocation analyzed as individual steps in the export of a bacterial protein
Authors: Neumann-Haefelin, C Schafer, U Muller, W Koch, HG
Citation: C. Neumann-haefelin et al., SRP-dependent co-translational targeting and SecA-dependent translocation analyzed as individual steps in the export of a bacterial protein, EMBO J, 19(23), 2000, pp. 6419-6426
Prolactin, a marker for cerebral dopamine deficiency in patients sufferingfrom phenylketonuria (PKU)?
Authors: Denecke, J Schlegel, W Koch, HG Feldmann, R Harms, E Weglage, J
Citation: J. Denecke et al., Prolactin, a marker for cerebral dopamine deficiency in patients sufferingfrom phenylketonuria (PKU)?, J INH MET D, 23(8), 2000, pp. 849-NIL_1
Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls
Authors: Weglage, J Grenzebach, M Pietsch, M Feldmann, R Linnenbank, R Denecke, J Koch, HG
Citation: J. Weglage et al., Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls, J INH MET D, 23(5), 2000, pp. 487-496
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene
Authors: Linnebank, M Homberger, A Rapp, B Winter, C Marquardt, T Harms, E Koch, HG
Citation: M. Linnebank et al., Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene, J INH MET D, 23(4), 2000, pp. 308-312
Prothrombotic risk factors in children with spontaneous venous thrombosis and their asymptomatic parents: A family study
Authors: Kosch, A Junker, R Kurnik, K Schobess, R Gunther, G Koch, HG Nowak-Gottl, U
Citation: A. Kosch et al., Prothrombotic risk factors in children with spontaneous venous thrombosis and their asymptomatic parents: A family study, THROMB RES, 99(6), 2000, pp. 531-537
Frequent polymorphism of the human methylenetetrahydrofolate reductase
Authors: Linnebank, M Homberger, A Koch, HG
Citation: M. Linnebank et al., Frequent polymorphism of the human methylenetetrahydrofolate reductase, STROKE, 31(4), 2000, pp. 990-990
Roles of the ccoGHIS gene products in the biogenesis of the cbb(3)-type cytochrome c oxidase
Authors: Koch, HG Winterstein, C Saribas, AS Alben, JO Daldal, F
Citation: Hg. Koch et al., Roles of the ccoGHIS gene products in the biogenesis of the cbb(3)-type cytochrome c oxidase, J MOL BIOL, 297(1), 2000, pp. 49-65
Dissecting the translocase and integrase functions of the Escherichia coliSecYEG translocon
Authors: Koch, HG Muller, M
Citation: Hg. Koch et M. Muller, Dissecting the translocase and integrase functions of the Escherichia coliSecYEG translocon, J CELL BIOL, 150(3), 2000, pp. 689-694
Legal conditions and limitations of research on embryos: National and international aspects
Authors: Koch, HG
Citation: Hg. Koch, Legal conditions and limitations of research on embryos: National and international aspects, GEBURTSH FR, 60(5), 2000, pp. M67-M72
Heterozygous FV R506Q mutation in childhood thrombosis: A possible link tothe plasminogen activator inhibitor-1 (PAI-1) 4G/4G genotype and elevated lipoprotein (a) - Preliminary results of a single centre pilot study
Authors: Junker, R Baumer, R Koch, HG Schettler, CH Weber, D Nowak-Gottl, U
Citation: R. Junker et al., Heterozygous FV R506Q mutation in childhood thrombosis: A possible link tothe plasminogen activator inhibitor-1 (PAI-1) 4G/4G genotype and elevated lipoprotein (a) - Preliminary results of a single centre pilot study, FIBRINOL PR, 13, 1999, pp. 26-29
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