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Institut for Human Genetik

Forskning

Artikel

Olpin, S, Clark, S, Bischoff, C, Olsen, RKJ, Gregersen, N, Chakrapani, A, Downing, M, Manning, N, Andresen, BS, Sharrard, M, Bonham, J, Muntoni, F, Turnbull, D, & Pourfarzam, M 2005, 'Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency' Journal of Inherited Metabolic Disease, vol. 28, nr. 4, s. 533-544.

Vang, S, Corydon, TJ, Børglum, A, Scott, M, 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, vol. 272, nr. 8, s. 2037-2049.

Artikel peer reviewed

Agerholm, I, Ziebe, S, William, B, Berg, C, Cruger, D, Petersen, G, & Kølvraa, S 2005, 'Sequential FISH analysis using competitive displacement of labelled peptide nucleic acid probes for eight chromosomes in human blastomeres.' Hum. Reprod., vol. 20, nr. 4, s. 1072-1077.

Anderson, C, Jørgensen, AL, Deeb, S, McLerran, D, Beresford, S, & Motulsky, A 2005, 'Equal proportion of adult male and female homozygous for the 677C --> T mutation in the methylenetetrahydrofolate reductase polymorphism.' Am. J. Med. Genet., vol. 134, nr. 1, s. 97-99.

Bao, J, Bao, Q, Bao, W, Bian, S, Bian, X, Bolund, L, & (As a member of) The Chinese Human Genome Sequencing Consortium, E 2005, 'Beijing Region (3pter-D3S3397) of the Human Genome: Complete sequence and analysis' Science in China Ser. C Life Sciences, vol. 48, nr. 4, s. 311-329 (English version).

Bao, J, Bao, Q, Bao, W, Bao, S, Bian, X, Bolund, L, & (As a member of) The Chinese Human Genome Sequencing Consortium, E 2005, 'Beijing Region (3pter-D3S3397) of the human genome: Complete sequence and analysis' Science in China Ser. C Life Sciences, vol. 35, nr. 4, s. 286-303 (Chinese version).

Buckley, P, Matripragada, K, Díaz de Ståhl, T, Piotrowski, A, Hansson, C, Kiss, H, Ventrie, D, Ernberg, I, Nordenskjöld, M, Bolund, L, Saino, M, Rouleau, G, Niimura, M, Wallace, A, Evans, D, Grigelionis, G, Menzel, U, & Dumanski, J 2005, 'Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.' Human Mutation, vol. 26, nr. 6, s. 540-549.

Calin, G, Trapasso, F, Shimizu, M, Dumitru, C, Yendamuri, S, Godwin, A, Ferracin, M, Bernardi, G, Chatterjee, D, Baldassarre, G, Rattan, S, Alder, H, Mabuchi, H, Shiraishi, T, Hansen, LL, Overgaard, J, Herlea, V, Mauro, F, Dighiero, G, Movsas, B, Rassenti, L, Kipps, T, Baffa, R, Fusco, A, Mori, M, Russo, G, Liu, C, Neuberg, D, Bullrich, F, Negrini, M, & Croce, C 2005, 'Familial cancer associated with a polymorphism in ARLTS1 ' N. Engl. J. Med., vol. 352, nr. 16, s. 1667-1676.

Christensen, B, Philip, J, Kølvraa, S, Lykke-Hansen, L, Hromadnikova, I, Gohel, D, Lorch, T, Plesch, A, Bang, J, Schmidt-Jensen, S, Hertz, J, & Djursing, H 2005, 'Fetal cells in maternal blood: a comparison of methods for cell isolation and identification.' Fetal Diagn. Ther., vol. 20, nr. 2, s. 106-112.

Christensen, R, Alhonen, L, Wahlfors, J, Jacobsen, M, & Jensen, T 2005, 'Characterization of transgenic mice with the expression of phenylalanine hydroxylase and GTP cyclohydrolase I in the skin.' Experimental Dermatology, vol. 14, nr. 7, s. 535-542.

Christensen, R, Kølvraa, S, & Jensen, T 2005, 'Manipulation of the phenylalanine metabolism in human keratinocytes by retroviral mediated gene transfer.' Cells Tissues Organs, vol. 179, nr. 4, s. 170-178.

Corydon, TJ, Hansen, J, Bross, P, & Jensen, T 2005, 'Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins.' Mol. Genet. Metab., vol. 85, nr. 4, s. 260-270.

Corydon, TJ, Hansen, J, Bross, PG, & Jensen, TG 2005, 'Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydogenase wild-type and disease-associated proteins' Mol. Genet. Metab., vol. 85, nr. 4, s. 260-270.

Du, Y, Kragh, PM, Zhang, X, Purup, S, Yang, H, Bolund, L, & Vajta, G 2005, 'High overall in vitro efficiency of porcine handmade cloning (HMC) combining partial zona digestion and oocyte trisection with sequential culture.' Cloning and Stem Cells, vol. 7, nr. 3, s. 199-205.

Ensenauer, R, He, M, Willard, J, Goetzmann, E, Corydon, TJ, Vandahl, B, Mohsen, A, Isaya, G, & Vockley, J 2005, 'Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids' J. Biol. Chem., vol. 280, nr. 37, s. 32309-32316.

Eriksen, K, Lovato, P, Skov, L, Krejsgaard, T, Kaltoft, K, Geisler, C, & Odum, N 2005, 'Increased sensitivity to interferon-alpha in psoriatic T cells.' J. Invest. Dermatol., vol. 125, nr. 5, s. 936-944.

Hansen, R, Sæbø, M, Skjelbred, C, Nexø, BA, Hagen, P, Bock, G, Lothe, I, Johnson, E, Aase, S, Hansteen, I, Vogel, U, & Kure, H 2005, 'GPX Pro198Leu and OGG1 Ser326Cys polymorphisms and risk of development of colorectal adenomas and colorectal cancer.' Cancer Lett., vol. 229, nr. 1, s. 85-91.

Kamm, C, Healey, D, Quinn, N, Wüllner, U, Müller, J, Schols, L, Geser, F, Burk, K, Børglum, A, Pellecchia, M, Tolosa, E, del Sorbo, F, Nilsson, C, Bandmann, O, Sharma, M, Mayer, P, Gasteiger, M, Haworth, A, Ozawa, T, Less, A, Short, J, Giunti, P, Holinski-Feder, E, Illig, T, Wichmann, H, Wenning, G, Wood, N, & Gasser, T 2005, 'The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group.' Brain, vol. 128, s. 1855-1860.

Korman, S, 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., vol. 51, nr. 3, s. 610-617.

Kragh, PM, Du, Y, Corydon, TJ, Purup, S, Bolund, L, & Vajta, G 2005, 'Efficient in vitro production of porcine blastocysts by handmade cloning with a combined electrical and chemical activation' Theriogenology, vol. 64, nr. 7, s. 1536-1545.

Kølvraa, S, Christensen, B, Lykke-Hansen, L, & Philip, J 2005, 'The fetal erythroblast is not the optimal target for non-invasive prenatal diagnosis: preliminary results.' Histochem. Cytochem., vol. 53, nr. 3, s. 331-336.

Laska, MJ, Nexø, BA, Poulsen, H, Loft, S, & Vogel, U 2005, 'Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer.' Cancer Lett., vol. 225, nr. 2, s. 245-251.

Ma, L, Chen, C, Liu, X, Jiao, Y, Su, N, Li, L, Wang, X, Cao, M, Sun, N, Zhang, X, Bao, J, Sun, D, Li, J, Pedersen, S, Bolund, L, Zhao, H, Yuan, L, Wong, G, Wang, J, Deng, X, & Wang, J 2005, 'A microarray analysis of the rice transcriptome and its comparison to Arabidopsis.' Genome Research, vol. 15, s. 1274-1283.

Mansilla, F, Hansen, LL, Jakobsen, H, Kjeldgaard, N, Clark, B, & Knudsen, C 2005, 'Deconstructing PTI-1: PTI-1 is a truncated, but not mutated, form of translation elongatin factor 1A1, eEF1A1.' Biochim. Biophys. Acta, vol. 1727, nr. 2, s. 116-124.

Marcheco, T, Torralbas, M, Flint, T, El Daoud, A, Gonzalez, L, Blanco, L, Ewald, H, Børglum, A, Kruse, T, & Mors, O 2005, 'Linkage analyses in candidate regions for bipolar affective disorder in a large and complex pedigree from the Holguin region in Eastern Cuba' Cuban J. Hum. Genet..

Mors, N, & Børglum, A 2005, 'Status og perspektiver inden for psykiatrisk genomisk medicin' Ugeskrift for Læger, vol. 167, s. 2191-2193.

O'Reilly, L, Andresen, BS, & Engel, P 2005, 'Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.' FEBS J., vol. 272, nr. 17, s. 4549-4557.

Olsen, R, Andresen, BS, Christensen, E, Mandel, H, Skovby, F, Nielsen, J, 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.' Prenat. Diagn., vol. 25, nr. 1, s. 60-64.

Philip, J, Christensen, B, & Kølvraa, S 2005, '[The fetal erythroblast is not the optimal target for non-invasive prenatal diagnosis--secondary publication]' Ugeskr. Laeger, vol. 167, nr. 15, s. 1644-1646.

Rockenbauer, E, Petersen, K, Vogel, U, Bolund, L, Kølvraa, S, Nielsen, K, & Nexø, BA 2005, 'SNP genotyping using microsphere-linked PNA and flow cytometric detection.' Cytometry Part A, vol. 64A, nr. 2, s. 80-86.

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, vol. 63, nr. 2, s. 207-216.

Sørensen, CB, Krogsdam, A, Andersen, M, Kristiansen, K, Bolund, L, & Jensen, T 2005, 'Site-specific strand bias in gene correction using single-stranded oligonucleotides' J. Mol. Med., vol. 83, s. 39-49.

Vogel, U, Overvad, K, Håkan, W, Tjønneland, A, Nexø, BA, & Raaschou-Nielsen, O 2005, 'Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer' Cancer Lett., vol. 222, nr. 1, s. 67-74.

Vogel, U, Olsen, A, Håkan, W, Overvad, K, Tjønneland, A, & Nexø, BA 2005, 'Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50.' Cancer Detect Prev., vol. 29, nr. 3, s. 209-214.

Zhang, X, Snijders, A, Zhang, X, Segraves, R, Niebuhr, A, Albertson, D, Yang, H, Gray, J, Niebuhr, E, Bolund, L, & Pinkel, D 2005, 'High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.' Am. J. Hum. Genet., vol. 76, s. 312-326.

Poster

Kyndi, M, Alsner, J, Hansen, LL, Sørensen, FB, & Overgaard, J 2005, 'Prognostic value of genotypes and LOH at TP53 codon 72 and TP53 mutations in primary breast cancer.' Paper fremlagt ved The Third International Symposium on the Molecular Biology of Breast Cancer, Molde, Norge.

Ph.d.-afhandling

Graakjær, J 2005, 'Intracellular Telomere Length Dynamics in Human Cells'. Ph.d.-afhandling, Fællestrykkeriet for Sundhedsvidenskab & Humaniora, Aarhus Universitet.

Singh, R 2005, 'Association of Heat Schock Protein 70 Gens With Human Aging, Longevity, Survival And Stress Response'. Ph.d.-afhandling, Fællestrykkeriet for Sundhedsvidenskab & Humaniora, Aarhus Universitet.

Publiceret abstrakt

Backlund, L, Rosvall, L, Mors, O, Kockum, I, Traskman-Bendz, L, Frisén, L, Børglum, A, Mortensen, P, Isacsson, G, Agren, H, Schalling, M, & Osby, U 2005, 'Association between g72 haplotypes and bipolar disorder in a nordic sample' 138B(1) udg., Paper fremlagt ved s. 74.

Buttenschøn, HN, Als, TD, Daoud, AE, Foldager, L, Wang, A, Børglum, A, Kruse, T, Lauritsen, M, & Mors, O 2005, 'The glutamate decarboxylase gene 1 as a potential candidate gene for autism.' 138B(1) udg., Paper fremlagt ved XIIIthWorld Congress on Psychiatric Genetics, TheWestin Copley Place, Boston, s. 64.

Jacobsen, IS, Tümer, Z, Tommerup, N, Børglum, A, Horsbøl, H, & Mors, O 2005, 'T(4;12) translocation an a patient with bipolar affective disorder' 138B(1) udg., Paper fremlagt ved s. 78.

Kyndi, M, Alsner, J, Hansen, LL, Sørensen, FB, & Overgaard, J 2005, 'Prognostic value of genotypes and LOH at TP53codon 72 and TP53mutations in primary breast cancer' 7(Suppl 2) udg., I Breast Cancer Res., 22. juni 2005 - 26. juni 2005, s. S54.

McQuillin, A, Kalsi, G, Degn, B, Lundorf, M, Bass, N, Lawrence, J, Choudhury, K, Puri, V, Nyegaard, M, Curtis, D, Mors, O, Kruse, T, & HM, G 2005, 'Allelic and haplotypic association with bipolar disorder implicates a 300 kilobase region on chromosome 12q24.3 containing novel brain expressed gene sequences' 138B(1) udg., Paper fremlagt ved s. 32.

Olsen, RKJ, Andresen, BS, Gregersen, N, Miedzybrodska, Z, Pourfarzam, M, Merinero, B, Olpin, S, & Morris, A 2005, 'The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency' 28, suppl 1 udg., Paper fremlagt ved  Annual Symprosium for the Society for the Studies of Inborn Errors of Metabolism, Paris, Frankrig. 6. september 2005 - 9. september 2005, s. 116.

Severinsen, J, Als, TD, Binderup, H, Wang, A, Kruse, T, Muir, W, Blackwood, D, Mors, O, & Børglum, A 2005, 'Association analysis suggesting GPR24 as a shared susceptibility gene for bipolar affective disorder and schizophrenia' 138B(1) udg., Paper fremlagt ved XIII World Congress on Psychiatric Genetics 2005 Boston, USA, s. 92.