S
Sven Hoffmeyer
Researcher at University of Ulm
Publications - 14
Citations - 781
Sven Hoffmeyer is an academic researcher from University of Ulm. The author has contributed to research in topics: Neurofibromatosis & Exon. The author has an hindex of 11, co-authored 14 publications receiving 762 citations.
Papers
More filters
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
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
Clonal Origin of Tumor Cells in a Plexiform Neurofibroma with LOH in NF1 Intron 38 and in Dermal Neurofibromas without LOH of the NF1 Gene
Klaus Däschner,Günter Assum,Ingrid Eisenbarth,Winfrid Krone,Sven Hoffmeyer,Stefan Wortmann,Berno Heymer,Hildegard Kehrer-Sawatzki +7 more
TL;DR: In this plexiform neurofibroma of a NF1 patient with a constitutional one base-pair insertion in NF1 exon 4b, a non-random X-inactivation pattern was found, strongly suggesting a clonal origin of the tumor cells.
Journal ArticleDOI
Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors
Sven Hoffmeyer,Peter Nürnberg,Heide Ritter,Raimund Fahsold,Werner Leistner,Dieter Kaufmann,Winfrid Krone +6 more
TL;DR: Calculations of minimum-free-energy structures of the respective regions suggest that both changes in the secondary structure of the mRNA and creation or disruption of exonic sequences relevant for the splicing process might in fact cause these different splice phenomena observed in the NF1 gene.
Journal ArticleDOI
An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene
Sven Hoffmeyer,Günter Assum +1 more
TL;DR: An RsaI polymorphism in the transcribed region (exon 5) of the neurofibromatosis type 1 (NF1)-gene is described.