Research Topics
Species | Christian P KratzSummaryAffiliation: University Hospital Country: Germany Publications
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Detail Information
Publications
Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndromeChristian P Kratz
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106 Freiburg, Germany
Hum Mol Genet 16:374-9. 2007..These data implicate that in sporadic ERMS, UPD at 11p15.5 is not driven by HRAS mutations and that imbalances at 11p15.5 and HRAS mutations represent independent but cooperating events during ERMS development...- An unexpected new role of mutant Ras: perturbation of human embryonic developmentChristian P Kratz
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany
J Mol Med (Berl) 85:227-35. 2007.... - Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disordersChristian P Kratz
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
Cell Cycle 5:1607-11. 2006..The discovery of germline mutations in this group of related genetic disorders underscores the pivotal role of the degree and duration of Ras activation in cell fate decisions during embryonic development and morphogenesis... - Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutationsChristian P Kratz
Department of Pediatrics, University of Freiburg, Freiburg, Germany
Am J Med Genet A 149:1036-40. 2009.... - Juvenile myelomonocytic leukemiaChristian P Kratz
Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
Hematology 10:100-3. 2005 - Is granulocyte colony-stimulating factor therapy a risk factor for myelodysplasia/leukemia in patients with congenital neutropenia?Charlotte M Niemeyer
Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany
Haematologica 90:2-3. 2005 - Essential versus reactive thrombocythemia in children: retrospective analyses of 12 casesAbeer Abd El Moneim
Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Germany
Pediatr Blood Cancer 49:52-5. 2007..Essential thrombocythemia (ET) rarely occurs in the pediatric population and little is known about the clinical course and the molecular characteristics... - Germline KRAS mutations cause Noonan syndromeSuzanne Schubbert
Department of Pediatrics, University of California, 513 Parnassus Avenue, San Francisco, California 94143, USA
Nat Genet 38:331-6. 2006..These studies establish germline KRAS mutations as a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyperactive Ras... - Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activationIneke van der Burgt
J Med Genet 44:459-62. 2007.... - Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMartin Zenker
Institute of Human Genetics, University of Erlangen Nuremberg, Germany
J Med Genet 44:131-5. 2007..Germline mutations in KRAS have recently been identified in a small number of patients with Noonan syndrome and CFC... - Biochemical and functional characterization of germ line KRAS mutationsSuzanne Schubbert
Department of Pediatrics, University of California, 513 Parnassus Avenue, HSE 302, San Francisco, California 94143, USA
Mol Cell Biol 27:7765-70. 2007.... - The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative diseaseChristian P Kratz
University of California, Room HSE 302 Box 0519, San Francisco, CA 94143, USA
Blood 106:2183-5. 2005..This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML... - How a rare pediatric neoplasia can give important insights into biological concepts: a perspective on juvenile myelomonocytic leukemiaChristian Flotho
Haematologica 92:1441-6. 2007 - Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemiaAndrica C H De Vries
Haematologica 92:1574-5. 2007..B-Raf plays a central role in this pathway. In 65 screened JMML patients we identified no BRAF mutations and we conclude that this gene is unlikely to play a role in the pathogenesis of JMML... - Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutationsChristian Flotho
Blood 111:966-7; author reply 967-8. 2008 - SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker
J Med Genet 44:651-6. 2007..These findings corroborate that, despite being caused by gain-of-function mutations in molecules belonging to the same pathway, NS and CFCS scarcely overlap genotypically... - JAK2 mutations other than V617F: a novel mutation and mini reviewAxel Karow
Leuk Res 32:365-6. 2008 - MLL5, a homolog of Drosophila trithorax located within a segment of chromosome band 7q22 implicated in myeloid leukemiaBrooke M Emerling
Department of Pediatrics and Comprehensive Cancer Center, University of California, San Francisco, California, CA 94143, USA
Oncogene 21:4849-54. 2002..MLL5 is a novel mammalian Trx-G gene that might modulate transcription by protein association... - Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case reportChristian P Kratz
Department of Pediatric Hematology and Oncology, Heinrich Heine University, , Germany
Pediatr Hematol Oncol 20:167-72. 2003..The patient reported herein strengthens the association between the 22q11.2 deletion spectrum and Evans syndrome... - Mutation analysis of CUTL1 in childhood myeloid neoplasias with monosomy 7Simone Hindersin
Leuk Res 31:1323-4. 2007 - TERC mutations in children with refractory cytopeniaChristina A Ortmann
Haematologica 91:707-8. 2006..Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them... - Genomic structure of the PIK3CG gene on chromosome band 7q22 and evaluation as a candidate myeloid tumor suppressorChristian P Kratz
Department of Pediatrics, University of California, San Francisco 94143, USA
Blood 99:372-4. 2002..This allele was also detected in unaffected parents and in 1 of 60 control alleles; it probably represents a polymorphism. PIK3CG is unlikely to act as a recessive TSG in myeloid leukemias with monosomy 7...