Kliniken & Institute … Institute Humangenetik Forschung Publikationen 2007

Publikationen 2007

Balbach ST, Jauch A, Bohm-Steuer B, Cavaleri FM, Han YM, Boiani M (2007) Chromosome stability differs in cloned mouse embryos and derivative ES cells. Dev Biol 308:309-321

Bernardo ME, Emons JA, Karperien M, Nauta AJ, Willemze R, Roelofs H, Romeo S, Marchini A, Rappold GA, Vukicevic S, Locatelli F, Fibbe WE (2007) Human mesenchymal stem cells derived from bone marrow display a better chondrogenic differentiation compared with other sources. Connect Tissue Res 48:132-140

Bickeböller H, Fischer C (2007) Einführung in die Genetische Epidemiologie. Springer-Verlag, Berlin Heidelberg

Birk Moller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Guttler F, Tyfield L, Zschocke J (2007) Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. Hum Mutat 28:207

Blaschke RJ, Hahurij ND, Kuijper S, Just S, Wisse LJ, Deissler K, Maxelon T, Anastassiadis K, Spitzer J, Hardt SE, Scholer H, Feitsma H, Rottbauer W, Blum M, Meijlink F, Rappold G, Gittenberger-de Groot AC (2007) Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development. Circulation 115:1830-1838

Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G (2007) Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 92:219-228

Brecht M, Steenvoorden AC, Luf S, Bartram CR, Janssen JW (2007) Rearrangement and expression of myeov and hst in NIH/3T3 transfectants: A caveat for the interpretation of DNA transfection analyses. Oncol Rep 17:1127-1131

Burnworth B, Arendt S, Muffler S, Steinkraus V, Brocker EB, Birek C, Hartschuh W, Jauch A, Boukamp P (2007) The multi-step process of human skin carcinogenesis: a role for p53, cyclin D1, hTERT, p16, and TSP-1. Eur J Cell Biol 86:763-780

Crabbe L, Jauch A, Naeger CM, Holtgreve-Grez H, Karlseder J (2007) Telomere dysfunction as a cause of genomic instability in Werner syndrome. Proc Natl Acad Sci U S A 104:2205-2210

Dauwerse JG, de Vries BB, Wouters CH, Bakker E, Rappold G, Mortier GR, Breuning MH, Peters DJ (2007) A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome. Eur J Hum Genet

Dikow N, Nygren AO, Schouten JP, Hartmann C, Kramer N, Janssen B, Zschocke J (2007) Quantification of the methylation status of the PWS/AS imprinted region: Comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA. Mol Cell Probes 21:208-215

Fischer C, Kindler-Röhrborn A (2007) Geschlechtsspezifische genetische Ursachen komplexer Krankheiten. In: Freyer G, Biebler KE (eds) Biometrie und Medizinische Informatik Greifwalder Seminarberichte. Vol 13. Shaker Verlag, Greifswald

Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M (2007) Abnormal sterol metabolism in holoprosencephaly: Studies in cultured lymphoblasts. J Med Genet

Hensel M, Zoz M, Giesecke C, Benner A, Neben K, Jauch A, Stilgenbauer S, Ho AD, Kramer A (2007) High rate of centrosome aberrations and correlation with proliferative activity in patients with untreated B-cell chronic lymphocytic leukemia. Int J Cancer 121:978-983

Hess K, Steinbeisser H, Kurth T, Epperlein HH (2007) Bone morphogenetic protein-4 and Noggin signaling regulates pigment cell distribution in the axolotl trunk. Differentiation

Hoffmann GF, Schmitt B, Windfuhr M, Wagner N, Strehl H, Bagci S, Franz AR, Mills PB, Clayton PT, Baumgartner MR, Steinmann B, Bast T, Wolf NI, Zschocke J (2007) Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 30:96-99

Hundemer M, Klein U, Hose D, Raab MS, Cremer FW, Jauch A, Benner A, Heiss C, Moos M, Ho AD, Goldschmidt H (2007) Lack of CD56 expression on myeloma cells is not a marker for poor prognosis in patients treated by high-dose chemotherapy and is associated with translocation t(11;14). Bone Marrow Transplant 40:1033-1037

Kashkevich K, Humeny A, Ziegler U, Groschup MH, Nicken P, Leeb T, Fischer C, Becker CM, Schiebel K (2007) Functional relevance of DNA polymorphisms within the promoter region of the prion protein gene and their association to BSE infection. Faseb J 21:1547-1555

Marchini A, Hacker B, Marttila T, Hesse V, Emons J, Weiss B, Karperien M, Rappold G (2007) BNP is a transcriptional target of the short stature homeobox gene SHOX. Hum Mol Genet 16:3081-3087

Marchini A, Rappold G, Schneider KU (2007) SHOX at a glance: from gene to protein. Arch Physiol Biochem 113:116-123

Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB (2007) Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A 143A:2963-2972

Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE (2007) Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A 143A:2973-2980

Moog U, van Mierlo I, van Schrojenstein Lantman-de Valk HM, Spaapen L, Maaskant MA, Curfs LM (2007) Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet C Semin Med Genet 145:293-301

Niesler B, Roth R, Wilke S, Fujimura F, Fischer C, Rappold G (2007) The novel human SHOX allelic variant database. Hum Mutat 28:933-938

Niesler B, Walstab J, Combrink S, Moeller D, Kapeller J, Rietdorf J, Boenisch H, Goethert M, Rappold G, Bruess M (2007) Characterization of the Novel Human Serotonin Receptor Subunits 5-HT3C, 5- HT3D and 5-HT3E. Mol Pharmacol

Propping P, Bartram CR (2007) Friedrich vogel 1925-2006. Hum Genet 120:751-753

Rappold G (2007) My last visit with Friedrich Vogel: a personal remembrance. Hum Genet 120:749-750

Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B (2007) Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 44:306-313

Riedl E, Koeppel H, Brinkkoetter P, Sternik P, Steinbeisser H, Sauerhoefer S, Janssen B, van der Woude F, Yard B (2007) A CTG Polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells. Diabetes

Sabherwal N, Bangs F, Roth R, Weiss B, Jantz K, Tiecke E, Hinkel GK, Spaich C, Hauffa BP, van der Kamp H, Kapeller J, Tickle C, Rappold G (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet 16:210-222

Tchatchou S, Wirtenberger M, Hemminki K, Sutter C, Meindl A, Wappenschmidt B, Kiechle M, Bugert P, Schmutzler RK, Bartram CR, Burwinkel B (2007) Aurora kinases A and B and familial breast cancer risk. Cancer Lett 247:266-272

Vaclavicek A, Bermejo JL, Wappenschmidt B, Meindl A, Sutter C, Schmutzler RK, Kiechle M, Bugert P, Burwinkel B, Bartram CR, Hemminki K, Forsti A (2007) Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk. Breast Cancer Res Treat

van der Velden VH, Panzer-Grumayer ER, Cazzaniga G, Flohr T, Sutton R, Schrauder A, Basso G, Schrappe M, Wijkhuijs JM, Konrad M, Bartram CR, Masera G, Biondi A, van Dongen JJ (2007) Optimization of PCR-based minimal residual disease diagnostics for childhood acute lymphoblastic leukemia in a multi-center setting. Leukemia 21:706-713

Vincan E, Swain RK, Brabletz T, Steinbeisser H (2007) Frizzled7 dictates embryonic morphogenesis: implications for colorectal cancer progression. Front Biosci 12:4558-4567

Walstab J, Combrink S, Bruss M, Gothert M, Niesler B, Bonisch H (2007) Aequorin luminescence-based assay for 5-hydroxytryptamine (serotonin) type 3 receptor characterization. Anal Biochem 368:185-192

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 (2007) Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression in pleomorphic xanthoastrocytomas. Oncogene 26:1088-1097

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 (2007) 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 28:423-426