Výsledky vyhledávání - "Werner Leistner"

The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment

Autor: Christian Hein, Werner Leistner, Dieter Kaufmann, Britta Bartelt, Walther Vogel, Oliver Kenner, Ralf Müller

Publikováno v: Biochemical and Biophysical Research Communications. 294:496-503

One important function of the neurofibromatosis type 1 (NF1) product neurofibromin is the negative regulation of Ras activity on the cell membrane. Here, we describe an alternative splice product of the N-terminus of the NF1 gene. In this splice prod

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::259bfffdfbefa0d36e6010e7176c05a7
https://doi.org/10.1016/s0006-291x(02)00501-6

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Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2

Autor: Dieter, Kaufmann, Werner, Leistner, Petra, Kruse, Oliver, Kenner, Sven, Hoffmeyer, Christian, Hein, Walther, Vogel, Ludwine, Messiaen, Britta, Bartelt

Publikováno v: Cancer research. 62(5)

Mutations at splice sites or surrounding sequences have been reported to cause aberrant splicing. However, splicing errors can also occur without sequence alterations. We investigated three tumor suppressor genes for aberrant splicing in tumors. At a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f6b78da9b258d902682d793546234ecd
https://pubmed.ncbi.nlm.nih.gov/11888927

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Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors

Autor: Peter Nürnberg, Heide Ritter, Winfrid Krone, Dieter Kaufmann, Werner Leistner, Raimund Fahsold, Sven Hoffmeyer

SummaryStop mutations are known to disrupt gene function in different ways. They both give rise to truncated polypeptides because of the premature-termination codons (PTCs) and frequently affect the metabolism of the corresponding mRNAs. The analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf154eb52362f3e8d16b11d032803cf1
https://europepmc.org/articles/PMC1376891/

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Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences11Accession numbers and URLs for data in this article are as follows: Online Mendelian Inheritance in Man: http://www.ncbi.nlm.nih.gov/omim. For TSC1 (MIM 191100) and TSC2 (MIM 191092). The Human Gene Mutation Data Base, Cardiff (HGMD): http://www.uwcm.acuk/uwcm/mg. For TSC1 120735 and for TSC2 120466. TSC Variation Database: http://www.expmed.bwh.harvard.edu/projects/tsc_database. GenBank: http://www.ncbi.nlm.nih.gov/Genbank. For TSC2 cDNA X75621 and TSC2 complete genomic sequence AC005600

Autor: Karin Mayer, W.G. Ballhausen, Hans-Dieter Rott, Werner Leistner

Publikováno v: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. (3):495-507

Disease causing aberrations in both tuberous sclerosis predisposing genes, TSC1 and TSC2, comprise nearly every type of alteration with a predominance of small truncating mutations distributed over both genes. We performed an RNA based screening of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ad9d61b85b972801895395db8b7fd2b

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