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Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

Publications

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Xu S, Clark T, Zheng H, Vang S, Li R, Wong G, Wang J, Zheng X. 2008. Gene conversion in the rice genome. B M C Genomics. 9(1):93. https://doi.org/10.1186/1471-2164-9-93

Bak Pedersen C. 2008. Hudceller omdannes til muskelceller - en ny diagnostisk strategi til udredning af muskelrelaterede fedtforbrændingssygdomme. AUH.

Rohde MC , Schmidt S , Banner J , Corydon TJ , Gregersen N. 2008. Hyperthermal cell stress response in cases of sudden infant death. Abstract from International Association of Forensic Sciences 18^th triennial meeting, New Orleans, United States.

Cornelius N, Olsen R , Corydon TJ , Gregersen N. 2008. Investigation of the effect of riboflavin on the steady-state amount of variant electron transfer flavoproteins (ETF:QO) identified in patients with riboflavin-responsive multiple acyl-CoA dehydrogeanse deficiency (RR-MADD). Journal of Inherited Metabolic Disease. (1):36.

Gregersen N , Andresen B , Pedersen CB , Olsen R , Corydon T , Bross P. 2008. Mitochondrial fatty acid oxidation defects-remaining challenges. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-008-0990-y

Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, et al. 2008. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. American Journal of Human Genetics. 83(1):30-42. https://doi.org/10.1016/j.ajhg.2008.05.016

Færch M , Christensen JH , Corydon TJ , Kamperis K, de Zegher F, Gregersen N, Robertson GL, Rittig S. 2008. Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene. Clinical Endocrinology. 68(3):395-403. https://doi.org/10.1111/j.1365-2265.2007.03054.x

Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D. 2008. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Molecular Genetics and Metabolism. 95(1-2):39-45. https://doi.org/10.1016/j.ymgme.2008.06.002

Rohde MC , Schmidt S , Corydon TJ , Banner J , Gregersen N. 2008. Stress Response Profiles after Hyperthermic Exposure in Cases of Sudden Infant Death. Abstract from Annual Meeting in Translational Medicine, Aarhus University, Aarhus, Denmark.

Pedersen CB , Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, et al. 2008. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Human Genetics. 124(1):43-56. https://doi.org/10.1007/s00439-008-0521-9

Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH , Kruhøffer M , Palmfeldt J , Corydon TJ , Gregersen N, Ang D, et al. 2008. The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. Journal of Biological Chemistry. 283(23):15694-700. https://doi.org/10.1074/jbc.M800548200

Hansen J, Svenstrup K, Ang D, Nyholm M , Christensen JH , Gregersen N, E. Nielsen J, Georgopoulos C, Bross PG. 2007. A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. Journal of Neurology. 254(7):897-900.

Olsen RKJ, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JCS, Cornelius N, et al. 2007. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 130(Pt 8):2045-54. https://doi.org/10.1093/brain/awm135

Zheng H, Shi J, Fang X, Li Y, Vang S, Fan W, Wang J, Zhang Z, Wang W, Kristiansen K, et al. 2007. FGF: A web tool for Fishing Gene Family in a whole genome database. Nucleic Acids Res. .

Tvedegaard KC , Parner E , Attermann J, Hooper CW, Gregersen N , Hollegaard MV, Hougaard D, Thorsen P. 2007. Genetic markers for development of autistic disorder based on multiplex genotyping. Poster session presented at INTERNATIONAL MEETING FOR AUTISM RESEARCH, Seattle, United States.

Tvedegaard KC , Parner E, Hooper CW, Attermann J , Gregersen N , Thorsen P. 2007. Multiplex SNP analysis on whole genome amplified DNA from archived dried bloodspots, a validation study. Poster session presented at Planet xMap, Los Angeles, United States.

Merinero B, Perez-Cerda C, Ruiz Sala P, Ferrer I, Garcia MJ, Martinez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernandez E, Vianey-Saban C, et al. 2007. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J. Inherit. Metab. Dis. 29(5):685.

Rohde MC , Banner J , Corydon TJ , Gregersen N. 2007. Sampling Achilles-tendons and culturing fibroblast from forensic autopsies: Tools for diagnostics and cell stress research. In Ikke angivet. Graduate School of Health Sciences. pp. 156-157.

Nielsen KB , Sørensen S, Cartegni L, Corydon TJ , Doktor TK , Schroeder LD , Reinert LS, Elpeleg O, Krainer AR, Gregersen N, et al. 2007. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. American Journal of Human Genetics. 80(3):416-432. https://doi.org/10.1086/511992

Bross P , Li Z , Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopolus C, Ang D, Lundemose JB, Niezen-Koning K, et al. 2007. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperonin system and their disease-causing potential. Journal of Human Genetics. 52(1):56-65.

Li S, Ma L, Li H , Vang S, Hu Y, Bolund L, Wang J. 2007. Snap: An Integrated SNP Annotation Platform. Nucleic Acids Research. 35:D707-D710. https://doi.org/10.1093/nar/gkl969

Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RKJ, Christodoulou J. 2007. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molecular Genetics and Metabolism. 92(1-2):109-14. https://doi.org/10.1016/j.ymgme.2007.06.017

Ruan J, Li H, Chen Z, Coghlan A, Coin LJM, Guo Y, Hériché J-K, Hu Y, Kristiansen K, Li R, et al. 2007. TreeFam: 2008 Update. Nucleic Acids Research. 36(Database issue):D735-40. https://doi.org/10.1093/nar/gkm1005

Schiff M, Froissart R, Olsen RKJ, Acquaviva C, Vianey-Saban C. 2006. Electron transfer flavoprotein deficiency: Functional and molecular aspects. Molecular Genetics and Metabolism. 88(2):153-8.

Christensen JH , Rittig S. 2006. Familial neurohypophyseal diabetes insipidus--an update. Seminars in Nephrology. 26(3):209-23.

Singh R , Kølvraa S , Bross PG, Christensen K, Gregersen N, Tan Q, Jensen UB, Eiberg H, Rattan S. 2006. Heat shock protein 70 genes and human longevity: a view from Denmark. New York Academy of Sciences. Annals. 1067:301-308.

Wang W, Zheng H, Fan C, Li J, Shi J, Cai Z, Zhang G, Vang S, Liu D, Zhang J, et al. 2006. High Rate of Chimeric Gene Origination by Retroposition in Plant Genomes. Plant Cell. 18(8):1791-802.

Olsen RKJ. 2006. Multiple Acyl-CoA Dehydrogenation Deficiency: Henry Stewart Talk Series in Protein Epidemiology.

Gregersen N , Bross PG , Vang S , Christensen JH. 2006. Protein Misfolding and Human Disease. Annual Review of Genomics and Human Genetics. 7:103-124.

Gregersen N. 2006. Protein misfolding disorders: pathogenesis and intervention. J. Inherit. Metab. Dis. 29(2-3):456-70.

Singh R , Kølvraa S , Bross P , Jensen UB , Gregersen N, Tan Q, Knudsen C , Rattan SIS. 2006. Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. Cell Stress & Chaperones. 11(3):208-215.

Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, et al. 2006. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum. Genet. 118(30):680-690.

Bross P , Li Z , Hansen J, Hansen JJ, Nielsen MN , Corydon TJ, Georgopoulos C, Ang D, Lundemose JB, Niezen-Koning K, et al. 2006. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. Journal of Human Genetics. 52(1):56-65. https://doi.org/10.1007/s10038-006-0080-7

Maydan G, Andresen BS , Madsen PP, Zeigler M, Raas-Rotschild A, Zlotogorski A, Gutman A, Korman SH. 2006. TAT gene analysis in three Palestinian kindreds with oculocutaneous tyrosinemia II: characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. Journal of Inherited Metabolic Disease. 29:620-626.

Pedersen CB , Bischoff C, Christensen E, Simonsen H, Lund A, Young SP, Koeberl DD, Millington D, Roe C, Roe D, et al. 2006. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatric Research. 60:315-320.

Boneh A, Andresen BS , Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt J. 2006. VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Molecular Genetics and Metabolism. 88(2):166-170.

Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt J. 2005. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clin. Chem. 51(3):610-617.

Vang S , Corydon TJ , Børglum A, Scott MD, Frydman J, Mogensen J , Gregersen N , Bross P. 2005. Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. FEBS journal. 272(8):2037-2049.

Vang S , Corydon TJ , Børglum AD, Scott MD, Frydman J, Mogensen J , Gregersen N , Bross P. 2005. Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. FEBS journal. 272(8):2037-49. https://doi.org/10.1111/j.1742-4658.2005.04630.x

Olpin SE, Clark S, Bischoff C, Olsen RKJ , Gregersen N, Chakrapani A, Downing M, Manning NJ, Andresen BS, Sharrard M, et al. 2005. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. Journal of Inherited Metabolic Disease. 28(4):533-544.

Hansen J , Gregersen N , Bross PG. 2005. Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP. Biochemical and Biophysical Research Communications. 333(4):1160-1170.

Olsen RKJ , Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N. 2005. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. Prenatal Diagnosis. 25(1):60-64.

Corydon TJ , Hansen J , Bross P , Jensen TG. 2005. Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins. Molecular Genetics and Metabolism. 85(4):260-70. https://doi.org/10.1016/j.ymgme.2005.04.003

Siggaard C, Christensen JH , Corydon TJ , Rittig S, Robertson GL, Gregersen N , Bolund L , Pedersen EB. 2005. Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. Clinical Endocrinology. 63(2):207-216.

Vang S 2005. Familial Cardiomyopathies Molecular. Studies of Actin Mutations Causing Familial Hypertrophic Cardiomyopathy and Familial Dilated Cardiomyopathy. Skejby Sygehus: PhD thesis. 125 p.

Christensen JH, Nielsen MN, Hansen J, Gregersen N , Füchtbauer E-M, Corydon J, Bross PG. 2005. Identification of the Insertion Site of an Inactivating Gene Trap Vector within the Murine SPG13/Hsp60 Gene. Poster session presented at Mid-Term Review Meeting: "Spastic Models", Milano, Italy.

Gregersen N , Bross PG, Jørgensen MM. 2005. Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders.

Rytter D , Hasenkam JM, Berg JS, Gregersen N , Aagaard SR , Pedersen CB. 2005. The effect of postconditioning on stunning and the expression of antioxidant defence proteins in response to transient myocardial ischemia/reperfusion. Poster session presented at 15^th Annual Meeting of The Scandinavian Society for Research in Cardiothoracic Surgery, Geilo, Norway.

Olsen RKJ , Andresen BS , Gregersen N, Miedzybrodska Z, Pourfarzam M, Merinero B, Olpin S, Morris AAM. 2005. The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency. In Ikke angivet. 28, suppl 1 ed. Journal of Inherited Metabolic Disease. pp. 116.

Singh R, Kolvraa S, Bross P , Gregersen N, Andersen NB, Frederiksen H, Christensen K, Rattan S. 2004. Association Between Low Self-Rated Health and Heterozygosity: for 110A C Polymorphism in the Promoter Region of HSP70-1 in Aged Danish Twins. Biogerontology. (5).

Displaying results 301 to 350 out of 421

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Revised 26.06.2024

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Helle Just