H
Hartmut Peters
Researcher at Charité
Publications - 35
Citations - 1830
Hartmut Peters is an academic researcher from Charité. The author has contributed to research in topics: Exon & Gene. The author has an hindex of 20, co-authored 35 publications receiving 1703 citations. Previous affiliations of Hartmut Peters include Humboldt State University & Humboldt University of Berlin.
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Journal ArticleDOI
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Yasuyoshi Ueki,Valdenize Tiziani,Valdenize Tiziani,Carla Santanna,Naomi Fukai,Chris Maulik,Judah Garfinkle,Chisho Ninomiya,Cassio doAmaral,Hartmut Peters,Mutaz Habal,Laila Rhee-Morris,Jeffrey B. Doss,Sven Kreiborg,Bjorn R. Olsen,Ernst J Reichenberger +15 more
TL;DR: Seven mutations in the SH3-binding protein SH3BP2 on chromosome 4p16.3 that cause cherubism are described.
Journal ArticleDOI
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 Domain
Raimund Fahsold,Sven Hoffmeyer,Claudia Mischung,Christoph Gille,Christian Ehlers,Nazan Kücükceylan,Maher Abdel-Nour,Andreas Gewies,Hartmut Peters,Dieter Kaufmann,Annegret Buske,Sigrid Tinschert,Peter Nürnberg +12 more
TL;DR: Neither frequent deamination of 5-methylcytosines nor interchromosomal gene conversion may account for the high mutation rate of the NF1 gene, as determined in this study.
Journal ArticleDOI
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes
Christian P. Kratz,Lude Franke,Hartmut Peters,Nicolai Kohlschmidt,B Kazmierczak,U Finckh,A Bier,B Eichhorn,C Blank,Cornelia Kraus,Jürgen Kohlhase,Silke Pauli,G Wildhardt,Kerstin Kutsche,B Auber,A Christmann,Nadine Bachmann,Diana Mitter,F W Cremer,Kenneth H. Mayer,C Daumer-Haas,Claudia Nevinny-Stickel-Hinzpeter,F Oeffner,G Schlüter,M Gencik,B Überlacker,Christina Lissewski,Ina Schanze,Mark H. Greene,Claudia Spix,Martin Zenker +30 more
TL;DR: These data comprise the first quantitative evidence documenting that the germline mutations in Ras signalling pathway genes are associated with increased risks of both childhood leukaemia and solid tumours.
Journal ArticleDOI
Selective Disactivation of Neurofibromin GAP Activity in Neurofibromatosis Type 1 (NF1)
A. Klose,Mohammad Reza Ahmadian,Markus Schuelke,Klaus Scheffzek,Sven Hoffmeyer,Andreas Gewies,Frank Schmitz,Dieter Kaufmann,Hartmut Peters,Alfred Wittinghofer,Peter Nürnberg +10 more
TL;DR: It is shown that the mutation R1276P, unlike previously reported missense mutations of the GRD region, does not impair the secondary and tertiary protein structure, but it does completely disable GAP activity.
Journal ArticleDOI
The Gene for Cherubism Maps to Chromosome 4p16
Valdenize Tiziani,Ernst J Reichenberger,Celso Luiz Buzzo,Sadia Niazi,Naomi Fukai,Michael Stiller,Hartmut Peters,Francisco M. Salzano,Cassio Menezes Raposo do Amaral,Bjorn R. Olsen +9 more
TL;DR: In this article, the authors used a genomewide search with a three-generation family and established linkage to chromosome 4p16, where the combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of ∼22 cM.