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Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

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Sykut-Cegielska J, Gradowska W, Piekutowska-Abramczuk D, Andresen BS, Olsen R, Ołtarzewski M, Pronicki M, Pajdowska M, Bogdańska A, Jabłońska E, et al. 2010. Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. Journal of Inherited Metabolic Disease. 34/1(185-95).

Li J, Zhang Z, Vang S, Yu J, Wong GK-S, Wang J. 2009. Correlation between Ka/Ks and Ks is related to substitution model and evolutionary lineage. Journal of Molecular Evolution. 68(4):414-23. https://doi.org/10.1007/s00239-009-9222-9

Faerch M , Christensen JH , Rittig S, Johansson J-O, Gregersen N, de Zegher F, Corydon TJ. 2009. Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. American Journal of Physiology: Renal Physiology. 297(6):F1518-25. https://doi.org/10.1152/ajprenal.00331.2009

Egerod FL, Bartels A, Fristrup N , Borre M , Ørntoft TF, Oleksiewicz MB, Brünner N, Dyrskjøt L. 2009. High frequency of tumor cells with nuclear Egr-1 protein expression in human bladder cancer is associated with disease progression. B M C Cancer. 9:385. https://doi.org/10.1186/1471-2407-9-385

Ostenfeld MS , Bramsen JB , Lamy P , Villadsen SB , Fristrup N , Ulhøi BP , Borre M , Kjems J , Dyrskjøt L , Ørntoft TF. 2009. miR-145 induces caspase-dependent and -independent cell death in urothelial cancer cell lines with targeting of an expression signature present in Ta bladder tumors. Oncogene. https://doi.org/10.1038/onc.2009.395

Gregersen N. 2009. Mitochondrial fatty acid oxidation deficiencies: Remaining challenges. Abstract from Komrower Lecture at Society for the Study of Inborn Errors of Metabolism, Portugal.

Palmfeldt J , Vang S, Stenbroen V, Pedersen CB , Christensen J , Bross P , Gregersen N. 2009. Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress. Proteome Science. 7(1):20. https://doi.org/10.1186/1477-5956-7-20

Gregersen N. 2009. Nye spørgsmål til kendte sygdomme. AUH.

Henriques BJ, Rodrigues JV, Olsen RK , Bross P, Gomes CM. 2009. Role of flavinylation in a mild variant of multiple acyl-CoA dehydrogenation deficiency: a molecular rationale for the effects of riboflavin supplementation. Journal of Biological Chemistry. 284(7):4222-9. https://doi.org/10.1074/jbc.M805719200

Henriques BJ, Rodrigues JV, Olsen RKJ , Bross PG, Gomes CM. 2009. Role of Flavinylation in a Mild Variant of Multiple Acyl-CoA DehydrogenationDeficiency: A MOLECULAR RATIONALE FOR THE EFFECTS OF RIBOFLAVIN SUPPLEMENTATION. International Journal of Biological Chemistry. 284(7):4222-4229.

Svenstrup K, Bross P , Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, et al. 2009. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia. Journal of the Neurological Sciences. 284(1-2):90-5. https://doi.org/10.1016/j.jns.2009.04.024

Øzbay A, Tørring C, Olsen R , Carstens J. 2009. Transcriptional profiles in urine during acute rejection, bacteriuria, CMV infection and stable graft function after renal transplantation. Scandinavian Journal of Immunology. 69(4):357-65. https://doi.org/10.1111/j.1365-3083.2009.02226.x

Gregersen N. 2009. Skal der screenes for en kontroversiel medfødt stofskiftesygdom. AUH.

Rohde MC , Schmidt S , Corydon TJ , Banner J , Gregersen N. 2008. Cell stress markers in cases of sudden unexpected death in infancy. Abstract from SIDS 10th International Conference 2008, Portsmouth, United Kingdom.

Rohde MC , Schmidt S , Corydon TJ , Banner J , Gregersen N. 2008. Cell stress response in cases of sudden unexpected death in infancy. In Programme and Abstracts from the PhD Day 2008. pp. 147.

Rohde MC , Schmidt S , Banner J , Corydon TJ , Gregersen N. 2008. Cell stress response in cases of sudden unexpected death in infancy. Abstract from PhD Day Aarhus University 2008, Denmark.

Hansen J , Corydon TJ , Palmfeldt J, Dürr A, Fontaine B, Nyholm M , Christensen JH , Gregersen N , Bross P. 2008. Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13). Neuroscience. 153(2):474-82. https://doi.org/10.1016/j.neuroscience.2008.01.070

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

Displaying results 301 to 350 out of 438

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Revised 10.01.2025

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Helle Just