Kliniken & Institute ... Institute Humangenetik Forschung Publikationen 2010

Publikationen 2010

Alkhalaf A, Zurbig P, Bakker SJ, Bilo HJ, Cerna M, Fischer C, Fuchs S, Janssen B, Medek K, Mischak H, Roob JM, Rossing K, Rossing P, Rychlik I, Sourij H, Tiran B, Winklhofer-Roob BM, Navis GJ, 2010. Multicentric validation of proteomic biomarkers in urine specific for diabetic nephropathy. PLoS One 5(10):e13421.

Andrade AC, Baron J, Manolagas SC, Shaw NJ, Rappold GA, Donaldson MD, Gault EJ, Savendahl L, 2010. Hormones and genes of importance in bone physiology and their influence on bone mineralization and growth in Turner syndrome. Horm Res Paediatr 73(3):161-5.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA, 2010. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nat Genet 42(6):489-91.

Broyl A, Hose D, Lokhorst H, de Knegt Y, Peeters J, Jauch A, Bertsch U, Buijs A, Stevens-Kroef M, Beverloo HB, Vellenga E, Zweegman S, Kersten MJ, van der Holt B, El Jarari L, Mulligan G, Goldschmidt H, van Duin M, Sonneveld P, 2010. Gene expression profiling for molecular classification of multiple myeloma in newly diagnosed patients. Blood.

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 CC, Ficarazzi F, Tizzoni L, Zaffaroni D, Manoukian S, Barile M, Pierotti MA, Radice P, Burwinkel B, Peterlongo P, 2010. 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(1):E1052-7.

Child CJ, Rappold GA, Blum WF, 2010. Short Stature Homeobox-containing (SHOX) gene deficiency: Genetics and growth response to growth hormone treatment in comparison with Turner syndrome.

Conter V, Bartram CR, Valsecchi MG, Schrauder A, Panzer-Grumayer R, Moricke A, Arico M, Zimmermann M, Mann G, De Rossi G, Stanulla M, Locatelli F, Basso G, Niggli F, Barisone E, Henze G, Ludwig WD, Haas OA, Cazzaniga G, Koehler R, Silvestri D, Bradtke J, Parasole R, Beier R, van Dongen JJ, Biondi A, Schrappe M, 2010. Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study. Blood 115(16):3206-14.

Dikow N, Junge C, Karch S, Hinderhofer K, Froster UG, Moog U, 2010. Alpha-Thalassämie-Retardierungs-Syndrom. Monatsschr Kinderheilkd:1-4.

Durand C, Bangs F, Signolet J, Decker E, Tickle C, Rappold G, 2010. Enhancer elements upstream of the SHOX gene are active in the developing limb. Eur J Hum Genet 18(5):527-32.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortum F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tonnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K, 2010. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42(11):1021-6.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schrock E, Tinschert S, Rappold G, Moog U, 2010. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet A 152A(11):2908-11.

Felcht M, Dikow N, Goebeler M, Stroebel P, Booken N, Vossmerbaumer U, Merx K, Henzler T, Marx A, Moog U, Goerdt S, Klemke CD, 2010. Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism. BMJ Case Rep 2010.

Fischer C, Runz H, 2010. Einfuehrung zum Schwerpunktthema Datenbanken Medizinische Genetik 22:209-212.

Fletcher O, Johnson N, dos Santos Silva I, Orr N, Ashworth A, Nevanlinna H, Heikkinen T, Aittomaki K, Blomqvist C, Burwinkel B, Bartram CR, Meindl A, Schmutzler RK, Cox A, Brock I, Elliott G, Reed MW, Southey MC, Smith L, Spurdle AB, Hopper JL, Couch FJ, Olson JE, Wang X, Fredericksen Z, Schurmann P, Waltes R, Bremer M, Dork T, Devilee P, van Asperen CJ, Tollenaar RA, Seynaeve C, Hall P, Czene K, Humphreys K, Liu J, Ahmed S, Dunning AM, Maranian M, Pharoah PD, Chenevix-Trench G, Beesley J, Bogdanova NV, Antonenkova NN, Zalutsky IV, Anton-Culver H, Ziogas A, Brauch H, Ko YD, Hamann U, Fasching PA, Strick R, Ekici AB, Beckmann MW, Giles GG, Severi G, Baglietto L, English DR, Milne RL, Benitez J, Arias JI, Pita G, Nordestgaard BG, Bojesen SE, Flyger H, Kang D, Yoo KY, Noh DY, Mannermaa A, Kataja V, Kosma VM, Garcia-Closas M, Chanock S, Lissowska J, Brinton LA, Chang-Claude J, Wang-Gohrke S, Broeks A, Schmidt MK, van Leeuwen FE, Van't Veer LJ, Margolin S, Lindblom A, Humphreys MK, Morrison J, Platte R, Easton DF, Peto J, 2010. Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls. Cancer Epidemiol Biomarkers Prev 19(9):2143-51.

Gaspar H, 2010. Etiology and genetic aspects of Mobius sequence. Ophthalmologe 107(8):704-7.

Goecke TW, Ekici AB, Niesler B, Loehberg CR, Hammer C, Rappold G, Schanze D, Straub V, Altmann HH, Strissel P, Strick R, Beckmann MW, Fasching PA, 2010. Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy. Acta Obstet Gynecol Scand 89(1):7-14.

Hammer C, Fasching PA, Loehberg CR, Rauh C, Ekici AB, Jud SM, Bani MR, Beckmann MW, Strick R, Niesler B, 2010. Polymorphism in HTR3D shows different risks for acute chemotherapy-induced vomiting after anthracycline chemotherapy. Pharmacogenomics 11(7):943-50.

Heilig CE, Loffler H, Mahlknecht U, Janssen JW, Ho AD, Jauch A, Kramer A, 2010. Chromosomal instability correlates with poor outcome in patients with myelodysplastic syndromes irrespectively of the cytogenetic risk group. J Cell Mol Med 14(4):895-902.

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, 2010. Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients. Int J Cancer 126(12):2858-62.

Horn D, Kapeller J, Rivera-Brugues N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM, 2010. Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Hum Mutat 31(11):E1851-60.

Hov JR, Keitel V, Laerdahl JK, Spomer L, Ellinghaus E, ElSharawy A, Melum E, Boberg KM, Manke T, Balschun T, Schramm C, Bergquist A, Weismuller T, Gotthardt D, Rust C, Henckaerts L, Onnie CM, Weersma RK, Sterneck M, Teufel A, Runz H, Stiehl A, Ponsioen CY, Wijmenga C, Vatn MH, Stokkers PC, Vermeire S, Mathew CG, Lie BA, Beuers U, Manns MP, Schreiber S, Schrumpf E, Haussinger D, Franke A, Karlsen TH, 2010. Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis. PLoS One 5(8):e12403.

Karlsen TH, Franke A, Melum E, Kaser A, Hov JR, Balschun T, Lie BA, Bergquist A, Schramm C, Weismuller TJ, Gotthardt D, Rust C, Philipp EE, Fritz T, Henckaerts L, Weersma RK, Stokkers P, Ponsioen CY, Wijmenga C, Sterneck M, Nothnagel M, Hampe J, Teufel A, Runz H, Rosenstiel P, Stiehl A, Vermeire S, Beuers U, Manns MP, Schrumpf E, Boberg KM, Schreiber S, 2010. Genome-wide association analysis in primary sclerosing cholangitis. Gastroenterology 138(3):1102-11.

Keller M, Evers C, Moog U, Kloor M, Tariverdian M, Dewald M, Jost R, 2010. Psychosoziale und familiäre Aspekte bei der genetischen Diagnostik von erblichem Darmkrebs. Heidelberger interdisziplinäre Sprechstunde für familiären Darmkrebs Forum(25):34-37.

Koster I, Jungwirth MS, Steinbeisser H, 2010. xGit2 and xRhoGAP 11A regulate convergent extension and tissue separation in Xenopus gastrulation. Dev Biol 344(1):26-35.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R, 2010. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. Genet Med 12(7):431-9.

Moog U, 2010a. Invited comment. Acta Psychiatr Scand 122(2):166.

Moog U, 2010b. Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia.(Invited comment. Acta Psychiatr Scand 122(2):166.

Neben K, Jauch A, Bertsch U, Heiss C, Hielscher T, Seckinger A, Mors T, Muller NZ, Hillengass J, Raab MS, Ho AD, Hose D, Goldschmidt H, 2010. Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation. Haematologica 95(7):1150-7.

Niesler B, Kapeller J, Fell C, Atkinson W, Moller D, Fischer C, Whorwell P, Houghton LA, 2010. 5-HTTLPR and STin2 polymorphisms in the serotonin transporter gene and irritable bowel syndrome: effect of bowel habit and sex. Eur J Gastroenterol Hepatol 22(7):856-61.

Opladen T, Moog U, Herm M, Schmidt-Mader B, Hoffmann GF, 2010. Die Multiple Epiphysäre Dysplasie als Differentialdiagnose zur L-Dopa-responsiven Dystonie. Neuropädiatrie in Klinik und Praxis (9):93-97.

Prasad RB, Hosking FJ, Vijayakrishnan J, Papaemmanuil E, Koehler R, Greaves M, Sheridan E, Gast A, Kinsey SE, Lightfoot T, Roman E, Taylor M, Pritchard-Jones K, Stanulla M, Schrappe M, Bartram CR, Houlston RS, Kumar R, Hemminki K, 2010. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. Blood 115(9):1765-7.

Puskaric S, Schmitteckert S, Mori AD, Glaser A, Schneider KU, Bruneau BG, Blaschke RJ, Steinbeisser H, Rappold G, 2010. Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart. Hum Mol Genet 19(23):4625-33.

Quist SR, Franke I, Sutter C, Bartram CR, Gollnick HP, Leverkus M, 2010. Periungual fibroma (Koenen tumors) as isolated sign of tuberous sclerosis complex with tuberous sclerosis complex 1 germline mutation. J Am Acad Dermatol 62(1):159-61.

Rauschenberger K, Scholer K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kolker S, Schwarz H, Fischer C, Grziwa B, Runz H, Numann A, Shafqat N, Kavanagh KL, Hammerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J, 2010. A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med 2(2):51-62.

Ritter E, Husain RA, Hinderhofer K, Prell T, Fricke HJ, Scholl S, Hochhaus A, La Rosee P, 2010. Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma. Ann Hematol.

Schulz A, Fischer C, Chang-Claude J, Beckmann L, 2010. Entropy-supported marker selection and Mantel statistics for haplotype sharing analysis. Genet Epidemiol 34(4):354-63.

Sherborne AL, Hosking FJ, Prasad RB, Kumar R, Koehler R, Vijayakrishnan J, Papaemmanuil E, Bartram CR, Stanulla M, Schrappe M, Gast A, Dobbins SE, Ma Y, Sheridan E, Taylor M, Kinsey SE, Lightfoot T, Roman E, Irving JA, Allan JM, Moorman AV, Harrison CJ, Tomlinson IP, Richards S, Zimmermann M, Szalai C, Semsei AF, Erdelyi DJ, Krajinovic M, Sinnett D, Healy J, Gonzalez Neira A, Kawamata N, Ogawa S, Koeffler HP, Hemminki K, Greaves M, Houlston RS, 2010. Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet 42(6):492-4.

Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Kramer A, Schwable J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Gohring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Yang R, Reinecke P, Kuhlcke K, Schlegelberger B, Thrasher AJ, Hoelzer D, Seger R, von Kalle C, Grez M, 2010. Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med 16(2):198-204.

Stimpson KM, Song IY, Jauch A, Holtgreve-Grez H, Hayden KE, Bridger JM, Sullivan BA, 2010. Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes. PLoS Genet 6(8).

Strauss K, Goebel C, Runz H, Mobius W, Weiss S, Feussner I, Simons M, Schneider A, 2010. Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease. J Biol Chem 285(34):26279-88.

Tchatchou S, Riedel A, Lyer S, Schmutzhard J, Strobel-Freidekind O, Gronert-Sum S, Mietag C, D'Amato M, Schlehe B, Hemminki K, Sutter C, Ditsch N, Blackburn A, Hill LZ, Jerry DJ, Bugert P, Weber BH, Niederacher D, Arnold N, Varon-Mateeva R, Wappenschmidt B, Schmutzler RK, Engel C, Meindl A, Bartram CR, Mollenhauer J, Burwinkel B, 2010. Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity. Hum Mutat 31(1):60-6.

Vukicevic V, Jauch A, Dinger TC, Gebauer L, Hornich V, Bornstein SR, Ehrhart-Bornstein M, Muller AM, 2010. Genetic instability and diminished differentiation capacity in long-term cultured mouse neurosphere cells. Mech Ageing Dev 131(2):124-32.

Walstab J, Hammer C, Lasitschka F, Möller D, Connolly CN, Rappold G, Brüss M, Bönisch H, Niesler B, 2010. RIC-3 exclusively enhances the surface expression of human homomeric 5-hydroxytryptamine type 3A (5-HT3A) receptors despite direct interactions with 5-HT3A, -C, -D, and -E subunits. J Biol Chem 285(35):26956-65.

Walstab J, Rappold G, Niesler B, 2010. 5-HT(3) receptors: Role in disease and target of drugs. Pharmacol Ther.

Weinhold N, Moreaux J, Raab MS, Hose D, Hielscher T, Benner A, Meissner T, Ehrbrecht E, Brough M, Jauch A, Goldschmidt H, Klein B, Moos M, 2010. NPM1 is overexpressed in hyperdiploid multiple myeloma due to a gain of chromosome 5 but is not delocalized to the cytoplasm. Genes Chromosomes Cancer 49(4):333-41.

Weiss KH, Runz H, Noe B, Gotthardt DN, Merle U, Ferenci P, Stremmel W, Fullekrug J, 2010. Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. J Inherit Metab Dis.

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, 2010. A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Res Treat 121(3):693-702.