Zabel,

Bernhard,

Prof. Dr. med.

Anschrift:

Kinderklinik Universität Mainz

Molekulargenetisches Labor

Langenbeckstr. 1

D-55101 Mainz

Tel.: +0049 (0)6131-17-5929

Fax.: +0049 (0)6131-17-5528

Sek.: +0049 (0)6131-17-6826

eMail: zabel(at)molgen.medizin.uni-mainz.de

Veröffentlichungen:

Trost TM, Lausch EU, Fees SA, Schmitt S, Enklaar T, Reutzel D, Brixel LR, Schmidtke P, Maringer M, Schiffer IB, Heimerdinger CK, Hengstler JG, Fritz G, Bockamp EO, Prawitt D, Zabel BU, Spangenberg C. Premature senescence is a primary fail-safe mechanism of ERBB2-driven tumorigenesis in breast carcinoma cells.

Cancer Res 65:840-9,2005

Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A:

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, Torrance type, and define a novel subfamily within the type 2 collagenopathies.

Am J Med Genet 133:61-7,2005

Spranger JW, Zabel B, Kennedy J, Jackson G, Briggs M:

A disorder resembling pseudoachondroplasia but without COMP mutation.

Am J Med Genet 132:20-4,2005

Melchior R, Zabel B, Spranger J, Schumacher R.

Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis.

Eur J Pediatr 164:22-7,2005

Prawitt D, Brixel L, Spangenberg C, Eshkind L, Heck R, Oesch F, Zabel B, Bockamp E:

RNAi knock-down mice: an emerging technology for post-genomic functional genetics.

Cytogenet Genome Res 105:412-21,2004

Zankl A, Zabel B, Spranger J, Cuenot S, Xavier B, Ha-Vinh R, Hilbert K, Wildhardt G, Bonafé L, Superti-Furga A:

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.

Am J Med Genet 129:144-8,2004

Senée V, Vattem KM, Delépine M, Rainbow L, Haton C, Lecoq A, Shaw N, Robert J-J, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop M, Barrett T, Nicolino M, Wek RC, Julier C:

Wolcott-Rallison syndrome: clinical, genetic, and functional study of EIF2AK3 mutations, and suggestion of genetic heterogeneity.

Diabetes 53:1876-83,2004

Bartels CF, Bukulmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih L-Y, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML:

Mutations in the trans-membrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

Am J Hum Genet 75:27-34,2004

Prawitt D, Monteilh-Zoller MK, Brixel L, Spangenberg C, Zabel B, Fleig A, Penner R:

TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i.

Proc Natl Acad Sci USA 100:15166-71,2003

Stelzer C, Winterpacht A, Spranger J, Zabel B:

Grebe dysplasia and the spectrum of CDMP1 mutations.

Pediat Pathol Mol Med 22:77-85,2003

Bockamp E, Maringer M, Spangenberg C, Fees S, Fraser S, Eshkind L, Oesch F, Zabel B:

Of mice and models: improved animal models for biomedical research.

Physiol Genomics 11:115-32,2002

Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML:

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Cell 107:513-523,2001

Cichutek A, Brückmann T, Seipel B, Hauser H, Schlaubitz S, Prawitt D, Hankeln T, Schmidt ER, Winterpacht A, Zabel BU:

Comparative architectural aspects of syntenic regions on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1).

Cytogenet Cell Genet 93:277-283,2001

Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, Hennekam R, Meinecke P, Zabel B, Rosenthal B, Horsthemke B, Lüdecke H-J:

Mutations in a new gene, encoding a zinc-finger protein cause tricho-rhino-phalangeal syndrome type I.

Nat Genet 24:71-74,2000

Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lundstrom G, Horton W, Oberg K, LeeB:

LMX1B transactivation and expression in Nail-Patella syndrome.

Hum Mol Genet 9:1067-1074,2000

Prawitt D, Enklaar T, Klemm G, Gärtner B, Spangenberg C, Winterpacht A, Higgins M, Pelletier J, Zabel B:

Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression.

Hum Mol Genet 9:203-216,2000

Winterpacht A, Hilbert K, Stelzer C, Schweikardt T, Decker H, Segerer H, Spranger J, Zabel B:

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.

Physiol Genomics 2:9-12,2000

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