Research Topics
Genomes and Genes
Species | H PetersSummaryAffiliation: GSF-National Research Center for Environment and Health Country: Germany Publications
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Detail Information
Publications
Pax genes and organogenesis: Pax9 meets tooth developmentH Peters
GSF Research Center for Environment and Health, Institute for Mammalian Genetics, Neuherberg, Germany
Eur J Oral Sci 106:38-43. 1998..Here, we briefly summarize our current knowledge about Pax genes and introduce Pax9 to the growing family of factors which are involved in tooth development...- Teeth. Where and how to make themH Peters
GSF Research Center for Environment and Health, Institute for Mammalian Genetics, Neuherberg, Germany
Trends Genet 15:59-65. 1999..This cascade provides a molecular model by which reciprocal tissue interactions are controlled... 
Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculusJ Favor
Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Neuherberg D 85764, Germany
Genetics 159:1689-700. 2001..Pax6(7Neu) is a base pair substitution in the Kozak sequence and results in a reduced level of Pax6 translation product. The Pax6(4Neu) and Pax6(7Neu) alleles may be very useful for gene-dosage studies...- Comparative analysis of the genomic organization of Pax9 and its conserved physical association with Nkx2-9 in the human, mouse, and pufferfish genomesF Santagati
GSF Research Center for Health and Environment, Institute of Mammalian Genetics, Neuherberg, Germany
Mamm Genome 12:232-7. 2001..Our results suggest that transcription of Pax9 may be initiated at two alternative start sites and driven by TATA-less promoters... - Pax1 and Pax9 synergistically regulate vertebral column developmentH Peters
GSF Research Center for Environment and Health, Institute of Mammalian Genetics, Germany
Development 126:5399-408. 1999..In addition, our data indicate that the development of medial and lateral elements of vertebrae is regulated by distinct genetic pathways... - Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalitiesH Peters
GSF Research Center for Environment and Health, Institute for Mammalian Genetics, 85764 Neuherberg, Germany
Genes Dev 12:2735-47. 1998..In summary, our analysis shows that Pax9 is a key regulator during the development of a wide range of organ primordia... - Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiencyA Morrone
Neurometabolic Unit, Department of Pediatrics, University of Florence, Italy
Am J Med Genet 111:10-8. 2002.... - Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formationI Satokata
Genetics Division, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Nat Genet 24:391-5. 2000..Our results provide a developmental basis for PFM and demonstrate that Msx2 is essential at multiple sites during organogenesis... - Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordiaP X Xu
Division of Genetics, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 23:113-7. 1999..In addition, our results suggest that an evolutionarily conserved Pax-Eya-Six regulatory hierarchy is used in mammalian ear and kidney development... - Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domainR Fahsold
Gemeinschaftspraxis B Prager and A Junge, Dresden, Germany
Am J Hum Genet 66:790-818. 2000..Coincidence of mutated amino acids and those conserved between human and Drosophila strongly suggest significant functional relevance of this region, with major roles played by exons 12a and 15 and part of exon 16... - Developmental expression of Pax1/9 genes in urochordate and hemichordate gills: insight into function and evolution of the pharyngeal epitheliumM Ogasawara
Department of Zoology, Graduate School of Science, Kyoto University, Sakyo ku, Kyoto 606 8502, Japan
Development 126:2539-50. 1999..The Pax1/9 genes therefore might provide the first developmental genetic corroboration of hypotheses of organ-level homology that unifies hemichordates, urochordates and cephalochordates... - Targeted disruption of Pax1 defines its null phenotype and proves haploinsufficiencyB Wilm
GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, 85764 Neuherberg, Germany
Proc Natl Acad Sci U S A 95:8692-7. 1998..Furthermore, the phenotype of mice heterozygous for the null allele demonstrates that Pax1 is haploinsufficient in some though not all skeletal elements which express Pax1 during embryonic development... - Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formationA Neubüser
Department of Anatomy and Program in Developmental Biology, School of Medicine, University of California, San Francisco 94143 0452, USA
Cell 90:247-55. 1997..We suggest that a similar mechanism may be used for specifying the sites of development of other organs... - Isolation of the Pax9 cDNA from adult human esophagusH Peters
, GSF-Forschungszentrum Neuherberg, Oberschleissheim, Germany
Mamm Genome 8:62-4. 1997 - [Genetic aspects of cherubism]M Brix
Service de Chirurgie Plastique et Maxillo Faciale, CHU de Grenoble
Rev Stomatol Chir Maxillofac 107:105-8. 2006..The diagnosis is often established in children presented swelling of the jaws. The familial determinism of cherubism is well-known, and recently autosomal dominant cases have been described with detection of the exon 9 - SH3BP2 mutation... - Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotypeP Bauer
J Med Genet 41:230-2. 2004 - Laser capture microdissection and real-time PCR for analysis of glomerular endothelin-1 gene expression in mesangiolysis of rat anti-Thy 1.1 and murine Habu Snake Venom glomerulonephritisA Dimmler
Department of Pathology, , Germany
Diagn Mol Pathol 12:108-17. 2003..The above data argue for an important role of ET-1 in pathogenesis and/or repair of mesangiolysis in experimental mesangioproliferative GN... - Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adultA Boneh
Metabolic Service, Genetic Health Services Victoria, Murdoch Children s Research Institute, Royal Children s Hospital, Department of Paediatrics, Melbourne University, Melbourne, Australia
J Inherit Metab Dis 28:1139-40. 2005.... - Transcriptional response to hypoxia in human tumorsA Lal
Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA
J Natl Cancer Inst 93:1337-43. 2001..Within our catalogue of hypoxia-responsive genes are novel candidates for hypoxia-driven angiogenesis... - Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubismY Ueki
Harvard Forsyth Department of Oral Biology, Harvard School of Dental Medicine and The Forsyth Institute, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 28:125-6. 2001..Here we describe seven mutations in the SH3-binding protein SH3BP2 (MIM 602104) on chromosome 4p16.3 that cause cherubism... - Differential expression of the chicken Pax-1 and Pax-9 gene: in situ hybridization and immunohistochemical analysisH Peters
Institut fur Molekularbiologie und Tumorforschung, Philipps Universitat, Marburg, Federal Republic of Germany
Dev Dyn 203:1-16. 1995..Furthermore, chPax-9 gene products are detected in circumscribed areas of mesenchyme in the metatarsus and in entodermal derivatives, i.e., in the lining epithelium of the developing pharynx and of the embryonic and adult esophagus... - A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. OnlineK Kapelari
Institute for General and Experimental Pathology, Department of Molecular Pathophysiology, University of Innsbruck Medical School, Austria
Hum Mutat 13:505. 1999..Our study supports the case for using this rapid technique for CAH-family screening as long as alleles from both affected patients and parents are screened in parallel... - The gene for cherubism maps to chromosome 4p16V Tiziani
Department of Cell Biology, Harvard Medical School and Harvard Forsyth Boston, MA, USA
Am J Hum Genet 65:158-66. 1999..Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM... - Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival dataM Łastowska
Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
Oncogene 26:7432-44. 2007..They also suggest that integration of discriminators, such as survival and comparative gene expression, with microarray data may be useful in the identification of critical genes within regions of loss or gain in many human cancers...