Výsledky vyhledávání - "Niels, Rüdiger"

Familial Thrombophilia Associated With Homozygosity for the Cystathionine β-Synthase 833T→C Mutation

Autor: Niels Rüdiger, Karsten Rasmussen, Mette Gaustadnes, Jørgen Ingerslev

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology. 20:1392-1395

Abstract —Severe hyperhomocysteinemia due to cystathionine β-synthase (CBS) deficiency is a strong risk factor for premature cardiovascular disease. Among untreated patients, ≈50% have suffered a thromboembolic event by 30 years of age. We repor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d0db4288fcbcc31cc4d4aa7129d639a
https://doi.org/10.1161/01.atv.20.5.1392

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Intermediate and Severe Hyperhomocysteinemia with Thrombosis: A Study of Genetic Determinants

Autor: Niels Rüdiger, Karsten Rasmussen, Mette Gaustadnes, Jørgen Ingerslev

Publikováno v: Thrombosis and Haemostasis. 83:554-558

SummaryHyperhomocysteinemia is an independent risk factor for cardiovascular disease. In search of genetic factors causing elevated levels of total homocysteine in plasma (tHcy), we investigated a cohort of consecutively identified, unrelated thrombo

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https://doi.org/10.1055/s-0037-1613862

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Detection of a novel deletion in the cystathionine β-synthase (CBS) gene using an improved genomic DNA based method1

Autor: J. Ingerslev, Ole Kudsk Jensen, Niels Rüdiger, Sandra G. Heil, Henk J. Blom, Jan P. Kraus, Leo A. J. Kluijtmans, Karsten Rasmussen, Mette Gaustadnes

Publikováno v: FEBS Letters. 431:175-179

We elucidated the intron-exon boundaries of the 15 coding exons of the human cystathionine β-synthase (CBS) gene in order to establish an improved method based on PCR and direct sequencing for detection of CBS mutations. Using this method we identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::32d8e2d1c42ce75d793344d60aee810f
https://doi.org/10.1016/s0014-5793(98)00743-1

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Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI

Autor: N Gregersen, Ole Faergeman, Niels Rüdiger, A Tybjaerg-Hansen, PS Hansen

Publikováno v: Journal of Lipid Research, Vol 32, Iss 7, Pp 1229-1233 (1991)

A single primer-template mismatch 2 bp from the apoB-3500 (G to A) mutation permits introduction of a cleavage site for MspI (C/CGG) in normal alleles but not in mutant alleles (CCAG). After amplification, cleavage, and polyacrylamide gel electrophor

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http://www.sciencedirect.com/science/article/pii/S0022227520419856

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[Polymerase chain reaction--application of the technique]

Autor: Niels, Rüdiger

Publikováno v: Ugeskrift for laeger. 165(8)

Our knowledge of genes and genetic diseases has increased tremendously since the polymerase chain reaction technique (PCR) was introduced as a technique in molecular biology. The technique has become a critical tool for basic research, molecular biol

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https://pubmed.ncbi.nlm.nih.gov/12625117

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High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations

Autor: Kenneth N, Maclean, Mette, Gaustadnes, Jana, Oliveriusová, Miroslav, Janosík, Eva, Kraus, Viktor, Kozich, Vladimír, Kery, Flemming, Skovby, Niels, Rüdiger, Jørgen, Ingerslev, Sally P, Stabler, Robert H, Allen, Jan P, Kraus

Publikováno v: Human mutation. 19(6)

Cystathionine beta-synthase (CBS) is a crucial regulator of plasma levels of the thrombogenic amino acid homocysteine (Hcy). Homocystinuria due to CBS deficiency confers a dramatically increased risk of thrombosis. Early diagnosis usually occurs afte

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https://pubmed.ncbi.nlm.nih.gov/12007221

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Characterization of a disease‐causing Lys329 to Glu mutation in 16 patients with medium‐chain Acyl‐CoA dehydrogenase deficiency

Autor: Alexandra I. F. Blakemore, Diana Curtis, Niels Rüdiger, Peter Bross, Daniel P. Kelly, Vibeke Winter, Peter Engel, Lars Bolund, Niels Gregersen, Brage S. Andresen, Arnold W. Strauss, Sandro Ghisla, Ernst Christensen, Steen Kølvraa, Stefan Engst

Publikováno v: Gregersen, N, Andresen, B S, Bross, P, Winter, V, Rüdiger, N, Engst, S, Ghisla, S, Christensen, E, Kelly, D, Strauss, A W, Kølvraa, S, Bolund, L, Blakemore, A, Curtis, D & Engel, P 1991, ' Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency ', Journal of Inherited Metabolic Disease, vol. 14, no. 3, pp. 314-316 . https://doi.org/10.1007/BF01811691

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (McKusick 20145) is the most common inherited defect of the beta-oxidation of fatty acid (Roe and Coates, 1989). It causes life-threatening attacks of hypoglycaemia and lethargy, and has led to su

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https://doi.org/10.1007/bf01811691

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One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi

Autor: Niels Gregersen, Niels Rüdiger, Morten C. Kielland-Brandt

Publikováno v: Nucleic acids research. 23(2)

Alu elements have repeatedly been found involved in gene rearrangements in humans. Although these elements have been suggested to stimulate gene rearrangements, sparse information is available for the possible mechanism(s) of these events. Here we pr

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https://pubmed.ncbi.nlm.nih.gov/7862530

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DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia

Autor: Niels Rüdiger, Ole Faergeman, F. A. Hansen, E. M. Heinsvig, Lars Bolund, Niels Gregersen

Publikováno v: Rüdiger, N S, Heinsvig, E M, Hansen, F A, FÆrgeman, O, Bolund, L & Gregersen, N 1991, ' DNA deletions in the low density lipoprotein (LDL) receptor gene in Danish families with familial hypercholesterolemia ', Clinical Genetics, vol. 39, no. 6, pp. 451-462 . https://doi.org/10.1111/j.1399-0004.1991.tb03057.x

DNA samples from 25 unrelated Danish patients with familial hypercholesterolemia (FH) were screened by Southern blot hybridization to detect gross alterations in the low density lipoprotein (LDL) receptor gene. Three FH‐patients were found to have

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https://pubmed.ncbi.nlm.nih.gov/1863993

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Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency:identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

Autor: Stefan Engst, Daniel P. Kelly, Arnold W. Strauss, Sandro Ghisla, Niels Rüdiger, Steen Kølvraa, Vibeke Winter, Peter Bross, Ernst Christensen, Niels Gregersen, Brage S. Andresen, Lars Bolund

Publikováno v: Gregersen, N, Andresen, B S, Bross, P, Winter, V, Rüdiger, N, Engst, S, Christensen, E, Kelly, D, Strauss, A W, Kølvraa, S, Bolund, L & Ghisla, S 1991, ' Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency : identification of a lys 329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli ', Human Genetics, vol. 86, no. 6, pp. 545-551 . https://doi.org/10.1007/BF00201539
Scopus-Elsevier

A series of experiments has established the molecular defect in the medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) gene in a family with MCAD deficiency. Demonstration of intra-mitochondrial mature MCAD indistinguishable in size (42.5-kDa) f

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https://pure.au.dk/portal/da/publications/molecular-characterization-of-mediumchain-acylcoa-dehydrogenase-mcad-deficiency(cd4e9145-7871-461e-a64e-009d8e2bd04d).html

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