Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2009

Publikationen 2009

Akagi T, Yin D, Kawamata N, Bartram CR, Hofmann WK, Song JH, Miller CW, den Boer ML, Koeffler HP (2009) Functional analysis of a novel DNA polymorphism of a tandem repeated sequence in the asparagine synthetase gene in acute lymphoblastic leukemia cells. Leuk Res 33:991-996

Bacon C, Endris V, Rappold G (2009) Dynamic expression of the Slit-Robo GTPase activating protein genes during development of the murine nervous system. J Comp Neurol 513:224-236

Balint I, Szponar A, Jauch A, Kovacs G (2009) Trisomy 7 and 17 mark papillary renal cell tumours irrespectively of variation of the phenotype. J Clin Pathol 62:892-895

Bartz F, Kern L, Erz D, Zhu M, Gilbert D, Meinhof T, Wirkner U, Erfle H, Muckenthaler M, Pepperkok R, Runz H (2009) Identification of cholesterol-regulating genes by targeted RNAi screening. Cell Metab 10:63-75

Berger CD, Marz M, Kitzing TM, Grosse R, Steinbeisser H (2009) Detection of activated Rho in fixed Xenopus tissue. Dev Dyn 238:1407-1411

Bermejo JL, Fischer C, Schulz A, Cremer N, Hein R, Beckmann L, Chang-Claude J, Hemminki K (2009) Representation of genetic association via attributable familial relative risks in order to identify polymorphisms functionally relevant to rheumatoid arthritis. BMC Proc 3 Suppl 7:S10

Brandt DT, Xu J, Steinbeisser H, Grosse R (2009) Regulation of myocardin-related transcriptional coactivators through cofactor interactions in differentiation and cancer. Cell Cycle 8:2523-2527

Catucci I, Yang R, Verderio P, Pizzamiglio S, Heesen L, Hemminki K, Sutter C, Wappenschmidt B, Dick M, Arnold N, Bugert P, Niederacher D, Meindl A, Schmutzler RK, Bartram CR, Ficarazzi F, Tizzoni L, Zaffaroni D, Manoukian S, Barile M, Pierotti MA, Radice P, Burwinkel B, Peterlongo P Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases. Hum Mutat 31:E1052-1057

Chen J, Wildhardt G, Zhong Z, Roeth R, Weiss B, Steinberger D, Decker J, Blum WF, Rappold GA (2009) Enhancer mutations of the SHOX gene as a frequent cause of short stature - the essential role of a 250 kb downstream regulatory domain. J Med Genet

Dai L, Gast A, Horska A, Schrappe M, Bartram CR, Hemminki K, Kumar R, Bermejo JL (2009) A case-control study of childhood acute lymphoblastic leukaemia and polymorphisms in the TGF-beta and receptor genes. Pediatr Blood Cancer 52:819-823

Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G (2009) Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet

Ehrlich D, Bruder E, Thome M, Gutt C, von Knebel Doeberitz M, Niggli F, Perantoni A, Bode M, Koesters R (2009) Nuclear Accumulation of beta-Catenin Protein Indicates Frequent Activation of Wnt-Signaling in Chemically-Induced Rat Nephroblastomas. Pediatr Dev Pathol:1

Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A (2009) A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet 17:1592-1599

Flaquer A, Fischer C, Wienker TF (2009) A new sex-specific genetic map of the human pseudoautosomal regions (PAR1 and PAR2). Hum Hered 68:192-200

Garcia-Cazorla A, Wolf NI, Serrano M, Moog U, Perez-Duenas B, Poo P, Pineda M, Campistol J, Hoffmann GF (2009) Mental retardation and inborn errors of metabolism. J Inherit Metab Dis 32:597-608

Gaudet MM, Milne RL, Cox A, Camp NJ, Goode EL, Humphreys MK, Dunning AM, et al. (2009) Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev 18:1610-1616

Gilbert DF, Meinhof T, Pepperkok R, Runz H (2009) DetecTiff: a novel image analysis routine for high-content screening microscopy. J Biomol Screen 14:944-955

Grunig E, Weissmann S, Ehlken N, Fijalkowska A, Fischer C, Fourme T, Galie N, et al. (2009) Stress Doppler echocardiography in relatives of patients with idiopathic and familial pulmonary arterial hypertension: results of a multicenter European analysis of pulmonary artery pressure response to exercise and hypoxia. Circulation 119:1747-1757

Hakroush S, Moeller MJ, Theilig F, Kaissling B, Sijmonsma TP, Jugold M, Akeson AL, Traykova-Brauch M, Hosser H, Hahnel B, Grone HJ, Koesters R, Kriz W (2009) Effects of increased renal tubular vascular endothelial growth factor (VEGF) on fibrosis, cyst formation, and glomerular disease. Am J Pathol 175:1883-1895

Hammer C, Kapeller J, Endele M, Fischer C, Hebebrand J, Hinney A, Friedel S, Gratacos M, Estivill X, Fichter M, Fernandez-Aranda F, Ehrlich S, Rappold G, Niesler B (2009) Functional variants of the serotonin receptor type 3A and B gene are associated with eating disorders. Pharmacogenet Genomics

Hartmaier RJ, Tchatchou S, Richter AS, Wang J, McGuire SE, Skaar TC, Rae JM, Hemminki K, Sutter C, Ditsch N, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Meindl A, Bartram CR, Burwinkel B, Oesterreich S (2009) Nuclear receptor coregulator SNP discovery and impact on breast cancer risk. BMC Cancer 9:438

Heilig CE, Loffler H, Mahlknecht U, Janssen JW, Ho AD, Jauch A, Kramer A (2009) Chromosomal instability correlates with poor outcome in patients with myelodysplastic syndromes irrespectively of the cytogenetic risk group. J Cell Mol Med

Hemminki K, Muller-Myhsok B, Lichtner P, Engel C, Chen B, Burwinkel B, Forsti A, Sutter C, Wappenschmidt B, Hellebrand H, Illig T, Arnold N, Niederacher D, Dworniczak B, Deissler H, Kast K, Gadzicki D, Meitinger T, Wichmann HE, Kiechle M, Bartram CR, Schmutzler RK, Meindl A (2009) Low risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients. Int J Cancer

Hose D, Moreaux J, Meissner T, Seckinger A, Goldschmidt H, Benner A, Mahtouk K, Hillengass J, Reme T, De Vos J, Hundemer M, Condomines M, Bertsch U, Rossi JF, Jauch A, Klein B, Mohler T (2009a) Induction of angiogenesis by normal and malignant plasma cells. Blood 114:128-143

Hose D, Reme T, Meissner T, Moreaux J, Seckinger A, Lewis J, Benes V, Benner A, Hundemer M, Hielscher T, Shaughnessy JD, Jr., Barlogie B, Neben K, Kramer A, Hillengass J, Bertsch U, Jauch A, De Vos J, Rossi JF, Mohler T, Blake J, Zimmermann J, Klein B, Goldschmidt H (2009b) Inhibition of aurora kinases for tailored risk-adapted treatment of multiple myeloma. Blood 113:4331-4340

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, et al. (2009) Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology

Kawamata N, Ogawa S, Seeger K, Kirschner-Schwabe R, Huynh T, Chen J, Megrabian N, Harbott J, Zimmermann M, Henze G, Schrappe M, Bartram CR, Koeffler HP (2009) Molecular allelokaryotyping of relapsed pediatric acute lymphoblastic leukemia. Int J Oncol 34:1603-1612

Marx JA, Rohrborn AJ, Koelsch BU, Fischer C, Herrmann T, Pietsch T, Rajewsky MF, Kindler-Rohrborn A (2009) Ablation of T cell immunity differentially influences tumor risk in inbred BD rat strains. Cancer Immunol Immunother 58:1287-1295

Milne RL, Benitez J, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Arias JI, et al. (2009) Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst 101:1012-1018

Moog U (2009a) Das Kind mit Adipositas und Entwicklungsverzögerung. Wann handelt es sich bei Adipositas um ein genetisches Syndrom? Pädiatrie hautnah 1:38-41

Moog U (2009b) Encephalocraniocutaneous lipomatosis. J Med Genet 46:721-729

Moog U (2009c) Invited comment. Acta Psychiatr Scand

Moog U, Hoffmann GF, Zschocke J (2009a) Geistige Behinderung infolge Stoffwechselkrankheit. Medgen 21:202-208

Moog U, Zschocke J, Grünewald S (2009b) Physical abnormalities in metabolic diseases. Springer Verlag, Berlin

Niesler B, Kapeller J, Fell C, Atkinson W, Moller D, Fischer C, Whorwell P, Houghton LA (2009) 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex. Eur J Gastroenterol Hepatol

Passemard S, Titomanlio L, Elmaleh M, Afenjar A, Alessandri JL, Andria G, de Villemeur TB, Boespflug-Tanguy O, Burglen L, Del Giudice E, Guimiot F, Hyon C, Isidor B, Megarbane A, Moog U, Odent S, Hernandez K, Pouvreau N, Scala I, Schaer M, Gressens P, Gerard B, Verloes A (2009) Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. Neurology 73:962-969

Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Kohler R, Greaves MF, Sheridan E, Gast A, Kinsey SE, Lightfoot T, Roman E, Taylor GM, Pritchard-Jones K, Stanulla M, Schrappe M, Bartram CR, Houlston RS, Kumar R, Hemminki K (2009) Verification of the susceptibility loci on 7p12.2, 10q21.2 and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood

Remke M, Pfister S, Kox C, Toedt G, Becker N, Benner A, Werft W, Breit S, Liu S, Engel F, Wittmann A, Zimmermann M, Stanulla M, Schrappe M, Ludwig WD, Bartram CR, Radlwimmer B, Muckenthaler MU, Lichter P, Kulozik AE (2009) High-resolution genomic profiling of childhood T-ALL reveals frequent copy-number alterations affecting the TGF-beta and PI3K-AKT pathways and deletions at 6q15-16.1 as a genomic marker for unfavorable early treatment response. Blood 114:1053-1062

Schmidt J, Kirsch S, Rappold GA, Schempp W (2009) Complex evolution of a Y-chromosomal double homeobox 4 (DUX4)-related gene family in hominoids. PLoS One 4:e5288

Schwarz AK, Stanulla M, Cario G, Flohr T, Sutton R, Moricke A, Anker P, Stroun M, Welte K, Bartram CR, Schrappe M, Schrauder A (2009) Quantification of free total plasma DNA and minimal residual disease detection in the plasma of children with acute lymphoblastic leukemia. Ann Hematol 88:897-905

Seckinger A, Meissner T, Moreaux J, Goldschmidt H, Fuhler GM, Benner A, Hundemer M, Reme T, Shaughnessy JD, Jr., Barlogie B, Bertsch U, Hillengass J, Ho AD, Pantesco V, Jauch A, De Vos J, Rossi JF, Mohler T, Klein B, Hose D (2009) Bone morphogenic protein 6: a member of a novel class of prognostic factors expressed by normal and malignant plasma cells inhibiting proliferation and angiogenesis. Oncogene 28:3866-3879

Shephard ND, Abo R, Rigas SH, Frank B, Lin WY, Brock IW, Shippen A, Balasubramanian SP, Reed MW, Bartram CR, Meindl A, Schmutzler RK, Engel C, Burwinkel B, Cannon-Albright LA, Allen-Brady K, Camp NJ, Cox A (2009) A breast cancer risk haplotype in the caspase-8 gene. Cancer Res 69:2724-2728

Sprynski AC, Hose D, Caillot L, Reme T, Shaughnessy JD, Jr., Barlogie B, Seckinger A, Moreaux J, Hundemer M, Jourdan M, Meissner T, Jauch A, Mahtouk K, Kassambara A, Bertsch U, Rossi JF, Goldschmidt H, Klein B (2009) The role of IGF-1 as a major growth factor for myeloma cell lines and the prognostic relevance of the expression of its receptor. Blood 113:4614-4626

Szponar A, Zubakov D, Pawlak J, Jauch A, Kovacs G (2009) Three genetic developmental stages of papillary renal cell tumors: duplication of chromosome 1q marks fatal progression. Int J Cancer 124:2071-2076

Tchatchou S, Jung A, Hemminki K, Sutter C, Wappenschmidt B, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Ditsch N, Meindl A, Schmutzler RK, Bartram CR, Burwinkel B (2009) A variant affecting a putative miRNA target site in estrogen receptor (ESR) 1 is associated with breast cancer risk in premenopausal women. Carcinogenesis 30:59-64

Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, et al. Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Hum Mutat 31:60-66

Thome MA, Ehrlich D, Koesters R, Muller-Stich B, Unglaub F, Hinz U, Buchler MW, Gutt CN (2009) The point of conversion in laparoscopic colonic surgery affects the oncologic outcome in an experimental rat model. Surg Endosc 23:1988-1994

Tuduri S, Crabbe L, Conti C, Tourriere H, Holtgreve-Grez H, Jauch A, Pantesco V, De Vos J, Thomas A, Theillet C, Pommier Y, Tazi J, Coquelle A, Pasero P (2009) Topoisomerase I suppresses genomic instability by preventing interference between replication and transcription. Nat Cell Biol 11:1315-1324

Tyson C, Dawson AJ, Bal S, Tomiuk M, Anderson T, Tucker D, Riordan D, Chudoba I, Morash B, Mhanni A, Chudley AE, McGillivray B, Parslow M, Rappold G, Roeth R, Fawcett C, Qiao Y, Harvard C, Rajcan-Separovic E (2009) Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability. Am J Med Genet A 149A:490-495

Wang Y, Steinbeisser H (2009) Molecular basis of morphogenesis during vertebrate gastrulation. Cell Mol Life Sci 66:2263-2273

Winzen B, Koelsch B, Fischer C, Kindler-Rohrborn A (2009) Genetic basis of sex-specific resistance to neuro-oncogenesis in (BDIX x BDIV) F(2) rats. Mamm Genome

Yang R, Chen B, Hemminki K, Wappenschmidt B, Engel C, Sutter C, Ditsch N, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B (2009a) Polymorphisms in BRCA2 resulting in aberrant codon-usage and their analysis on familial breast cancer risk. Breast Cancer Res Treat 118:407-413

Yang R, Schlehe B, Hemminki K, Sutter C, Bugert P, Wappenschmidt B, Volkmann J, Varon R, Weber BH, Niederacher D, Arnold N, Meindl A, Bartram CR, Schmutzler RK, Burwinkel B (2009b) A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Res Treat

Yin D, Ogawa S, Kawamata N, Tunici P, Finocchiaro G, Eoli M, Ruckert C, Huynh T, Liu G, Kato M, Sanada M, Jauch A, Dugas M, Black KL, Koeffler HP (2009) High-resolution genomic copy number profiling of glioblastoma multiforme by single nucleotide polymorphism DNA microarray. Mol Cancer Res 7:665-677

Zschocke J, Kebbewar M, Gan-Schreier H, Fischer C, Fang-Hoffmann J, Wilrich J, Abdoh G, Ben-Omran T, Shahbek N, Lindner M, Al Rifai H, Al Khal AL, Hoffmann GF (2009) Molecular neonatal screening for homocystinuria in the Qatari population. Hum Mutat 30:1021-1022