Kliniken & Institute … Institute Humangenetik Forschung Publikationen 2006

Publikationen 2006

Akagi T, Yin D, Kawamata N, Bartram CR, Hofmann WK, Wolf I, Miller CW, Koeffler HP (2006) Methylation analysis of asparagine synthetase gene in acute lymphoblastic leukemia cells. Leukemia 20:1303-1306

Blaschke RJ, Rappold G (2006) The pseudoautosomal regions, SHOX and disease. Curr Opin Genet Dev 16:233-239

Brown G, Fraser C, Schofield G, Taylor S, Bartram C, Phillips R, Saunders B (2006) Video capsule endoscopy in peutz-jeghers syndrome: a blinded comparison with barium follow-through for detection of small-bowel polyps. Endoscopy 38:385-390

Bruggemann M, Raff T, Flohr T, Gokbuget N, Nakao M, Droese J, Luschen S, Pott C, Ritgen M, Scheuring U, Horst HA, Thiel E, Hoelzer D, Bartram CR, Kneba M (2006) Clinical significance of minimal residual disease quantification in adult patients with standard-risk acute lymphoblastic leukemia. Blood 107:1116-1123

Burling D, Halligan S, Altman DG, Atkin W, Bartram C, Fenlon H, Laghi A, et al. (2006) CT colonography interpretation times: effect of reader experience, fatigue, and scan findings in a multi-centre setting. Eur Radiol 16:1745-1749

Burling D, Halligan S, Altman DG, Atkin W, Bartram C, Fenlon H, Laghi A, et al. (2006) Polyp measurement and size categorisation by CT colonography: effect of observer experience in a multi-centre setting. Eur Radiol 16:1737-1744

Burling D, Halligan S, Taylor S, Brennand DJ, Altman DG, Bassett P, Atkin W, Bartram CI (2006) Polyp measurement using CT colonography: agreement with colonoscopy and effect of viewing conditions on interobserver and intraobserver agreement. AJR Am J Roentgenol 186:1597-1604

Burling D, Taylor SA, Halligan S, Gartner L, Paliwalla M, Peiris C, Singh L, Bassett P, Bartram C (2006) Automated insufflation of carbon dioxide for MDCT colonography: distension and patient experience compared with manual insufflation. AJR Am J Roentgenol 186:96-103

Burwinkel B, Shanmugam KS, Hemminki K, Meindl A, Schmutzler RK, Sutter C, Wappenschmidt B, Kiechle M, Bartram CR, Frank B (2006) Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study. BMC Cancer 6:268

Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA (2006) Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. J Inherit Metab Dis 29:162-172

Chalmers RA, Bain MD, Zschocke J (2006) Riboflavin-responsive glutaryl CoA dehydrogenase deficiency. Mol Genet Metab 88:29-37

de Almeida RA, Heuser T, Blaschke R, Bartram CR, Janssen JW (2006) Control of MYEOV protein synthesis by upstream open reading frames. J Biol Chem 281:695-704

El-Said MF, Badii R, Bessisso MS, Shahbek N, El-Ali MG, El-Marikhie M, El-Zyoid M, Salem MS, Bener A, Hoffmann GF, Zschocke J (2006) A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. Hum Mutat 27:719

Finsterer J, Stollberger C, Gaismayer K, Janssen B (2006) Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol 106:420-421

Fischer C, Gross W, Kruger J, Cremer M, Vogel F, Grimm T (2006) Modelling germline mosaicism and different new mutation rates simultaneously for appropriate risk calculations in families with Duchenne muscular dystrophy. Ann Hum Genet 70:237-248

Fischer C, Kruger J, Gross W (2006) RISCALW: a Windows program for risk calculation in families with Duchenne muscular dystrophy. Ann Hum Genet 70:249-253

Frank B, Hemminki K, Meindl A, Wappenschmidt B, Klaes R, Schmutzler RK, Untch M, Bugert P, Bartram CR, Burwinkel B (2006) Association of the ARLTS1 Cys148Arg variant with familial breast cancer risk. Int J Cancer 118:2505-2508

Frank B, Hemminki K, Wappenschmidt B, Klaes R, Meindl A, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B (2006) Variable number of tandem repeats polymorphism in the SMYD3 promoter region and the risk of familial breast cancer. Int J Cancer 118:2917-2918

Frank B, Hemminki K, Wappenschmidt B, Meindl A, Klaes R, Schmutzler RK, Bugert P, Untch M, Bartram CR, Burwinkel B (2006) Association of the CASP10 V410I variant with reduced familial breast cancer risk and interaction with the CASP8 D302H variant. Carcinogenesis 27:606-609

Goh V, Halligan S, Gartner L, Bassett P, Bartram CI (2006) Quantitative colorectal cancer perfusion measurement by multidetector-row CT: does greater tumour coverage improve measurement reproducibility? Br J Radiol 79:578-583

Goh V, Halligan S, Hugill JA, Bartram CI (2006) Quantitative assessment of tissue perfusion using MDCT: comparison of colorectal cancer and skeletal muscle measurement reproducibility. AJR Am J Roentgenol 187:164-169

Hansson MG, Dillner J, Bartram CR, Carlson JA, Helgesson G (2006) Should donors be allowed to give broad consent to future biobank research? Lancet Oncol 7:266-269

Helbig I, Wirtenberger M, Jauch A, Hager HD, Tariverdian G, Hemminki K, Burwinkel B, Klaes R (2006) Trisomy 8q and partial trisomy 22 in a 43-year-old man with moderate intellectual disability, epilepsy and large cell non-Hodgkin lymphoma. Am J Med Genet A 140:1658-1662

Koelsch BU, Fischer C, Neibecker M, Schmitt N, Schmidt O, Rajewsky MF, Kindler-Rohrborn A (2006) Gender-specific polygenic control of ethylnitrosourea-induced oncogenesis in the rat peripheral nervous system. Int J Cancer 118:108-114

Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, et al. (2006) Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59:840-847

Kuerner KM, Steinbeisser H (2006) Expression analysis of IGFBP-rP10, IGFBP-like and Mig30 in early Xenopus development. Dev Dyn 235:2861-2867

Lou X, Fang P, Li S, Hu RY, Kuerner KM, Steinbeisser H, Ding X (2006) Xenopus Tbx6 mediates posterior patterning via activation of Wnt and FGF signalling. Cell Res 16:771-779

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, et al. (2006) Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat 27:121-132

Machado RD, Koehler R, Glissmeyer E, Veal C, Suntharalingam J, Kim M, Carlquist J, Town M, Elliott CG, Hoeper M, Fijalkowska A, Kurzyna M, Thomson JR, Gibbs SR, Wilkins MR, Seeger W, Morrell NW, Gruenig E, Trembath RC, Janssen B (2006) Genetic association of the serotonin transporter in pulmonary arterial hypertension. Am J Respir Crit Care Med 173:793-797

Mack M, Liesert M, Zschocke J, Peters V, Linder D, Buckel W (2006) 3-Methylglutaconyl-CoA hydratase from Acinetobacter sp. Arch Microbiol 185:297-306

Mack M, Schniegler-Mattox U, Peters V, Hoffmann GF, Liesert M, Buckel W, Zschocke J (2006) Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. Febs J 273:2012-2022

Marchini A, Daeffler L, Marttila T, Schneider KU, Blaschke RJ, Schnolzer M, Rommelaere J, Rappold G (2006) Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein. J Mol Biol 355:590-603

Runz H, Miura K, Weiss M, Pepperkok R (2006) Sterols regulate ER-export dynamics of secretory cargo protein ts-O45-G. Embo J 25:2953-2965

Shulver H, Bartram CI, Hudson CN (2006) A method of dissecting the pelvic floor to allow anatomical validation of images of the soft tissues. Clin Anat

Silva AC, Filipe M, Vitorino M, Steinbeisser H, Belo JA (2006) Developmental expression of Shisa-2 in Xenopus laevis. Int J Dev Biol 50:575-579

Taylor SA, Halligan S, Slater A, Marshall M, Bartram CI (2006) Comparison of radiologists' confidence in excluding significant colorectal neoplasia with multidetector-row CT colonography compared with double contrast barium enema. Br J Radiol 79:208-215

Tchatchou S, Wirtenberger M, Hemminki K, Sutter C, Meindl A, Wappenschmidt B, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B (2006) Aurora kinases A and B and familial breast cancer risk. Cancer Lett

Tiecke E, Bangs F, Blaschke R, Farrell ER, Rappold G, Tickle C (2006) Expression of the short stature homeobox gene Shox is restricted by proximal and distal signals in chick limb buds and affects the length of skeletal elements. Dev Biol 298:585-596

Tsukasaki K, Lohr D, Sugahara K, Kamihira S, Tomonaga M, Bartram CR, Jauch A (2006) Comparative genomic hybridization analysis of Japanese B-cell chronic lymphocytic leukemia: correlation with clinical course. Leuk Lymphoma 47:261-266

Vaclavicek A, Hemminki K, Bartram CR, Wagner K, Wappenschmidt B, Meindl A, Schmutzler RK, Klaes R, Untch M, Burwinkel B, Forsti A (2006) Association of prolactin and its receptor gene regions with familial breast cancer. J Clin Endocrinol Metab 91:1513-1519

Weber RG, Hoischen A, Ehrler M, Zipper P, Kaulich K, Blaschke B, Becker AJ, Weber-Mangal S, Jauch A, Radlwimmer B, Schramm J, Wiestler OD, Lichter P, Reifenberger G (2006) Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas. Oncogene

Wilkening S, Bermejo JL, Burwinkel B, Klaes R, Bartram CR, Meindl A, Bugert P, Schmutzler RK, Wappenschmidt B, Untch M, Hemminki K, Forsti A (2006) The single nucleotide polymorphism IVS1+309 in mouse double minute 2 does not affect risk of familial breast cancer. Cancer Res 66:646-648

Wirtenberger M, Frank B, Hemminki K, Klaes R, Schmutzler RK, Wappenschmidt B, Meindl A, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2006) Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. Carcinogenesis 27:1655-1660

Wirtenberger M, Schmutzhard J, Hemminki K, Meindl A, Sutter C, Schmutzler RK, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2006) The functional genetic variant Ile646Val located in the kinase binding domain of the A kinase anchoring protein 10 is associated with familial breast cancer. Carcinogenesis

Wirtenberger M, Tchatchou S, Hemminki K, Klaes R, Schmutzler RK, Bermejo JL, Chen B, Wappenschmidt B, Meindl A, Bartram CR, Burwinkel B (2006) Association of genetic variants in the Rho guanine nucleotide exchange factor AKAP13 with familial breast cancer. Carcinogenesis 27:593-598

Wirtenberger M, Tchatchou S, Hemminki K, Schmutzhard J, Sutter C, Schmutzler RK, Meindl A, Wappenschmidt B, Kiechle M, Arnold N, Weber BH, Niederacher D, Bartram CR, Burwinkel B (2006) Associations of genetic variants in the estrogen receptor coactivators PPARGC1A, PPARGC1B and EP300 with familial breast cancer. Carcinogenesis 27:2201-2208

Yang Y, Marcello M, Endris V, Saffrich R, Fischer R, Trendelenburg MF, Sprengel R, Rappold G (2006) MEGAP impedes cell migration via regulating actin and microtubule dynamics and focal complex formation. Exp Cell Res 312:2379-2393

Yang Y, Takeuchi S, Hofmann WK, Ikezoe T, van Dongen JJ, Szczepanski T, Bartram CR, Yoshino N, Taguchi H, Koeffler HP (2006) Aberrant methylation in promoter-associated CpG islands of multiple genes in acute lymphoblastic leukemia. Leuk Res 30:98-102

Zschocke J, Nebel A, Wicks K, Peters V, El Mokhtari NE, Krawczak M, van der Woude F, Janssen B, Schreiber S (2006) Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease. Mech Ageing Dev 127:817-820