Výsledky vyhledávání - "Sven Hoffmeyer"

Association of the P-Glycoprotein Transporter MDR1 C3435T Polymorphism with the Susceptibility to Renal Epithelial Tumors

Autor: M. Siegsmund, Ulrich Brinkmann, Michel Eichelbaum, Gregor Weirich, Oliver Burk, Hiltrud Brauch, Reinhold Kerb, Sven Hoffmeyer, Elke Schäffeler, Peter Alken, Jochen Decker, Peter Fritz, Matthias Schwab, Uwe Rothenpieler

Publikováno v: Journal of the American Society of Nephrology. 13:1847-1854

Except for hereditary disease, genetic factors that contribute to the development of renal epithelial tumors are unknown. There is a possibility that the MDR1 encoded plasma membrane transporter P-glycoprotein (PGP) influences the risk of development

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75edf56e9feeeceb25bba76930a7c4ca
https://doi.org/10.1097/01.asn.0000019412.87412.bc

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Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects

Autor: Thomas Gerloff, Sven Hoffmeyer, Andreas Johne, Elke Schaeffeler, Ulrich Brinkmann, Ingolf Cascorbi, Matthias Schwab, Eichelbaum Michel, Christian Meisel, Ivar Roots

Publikováno v: Clinical Pharmacology & Therapeutics. 69:169-174

Background P-glycoprotein, the gene product of MDR1, confers multidrug resistance against antineoplastic agents but also plays an important role in the bioavailability of common drugs in medical treatment. Various polymorphisms in the MDR1 gene were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff6f66ea7d21c520408426a01067d0b1
https://doi.org/10.1067/mcp.2001.114164

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Functional polymorphisms of the human multidrug-resistance gene: Multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo

Autor: Ingolf Cascorbi, Ulrich Brinkmann, Sven Hoffmeyer, Oliver Burk, O. von Richter, Ivar Roots, Thomas Gerloff, Eichelbaum Michel, Jürgen Brockmöller, H. P. Arnold, Andreas Johne

Publikováno v: Proceedings of the National Academy of Sciences. 97:3473-3478

To evaluate whether alterations in the multidrug-resistance (MDR)-1 gene correlate with intestinal MDR-1 expression and uptake of orally administered P-glycoprotein (PGP) substrates, we analyzed the MDR-1 sequence in 21 volunteers whose PGP expressio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46f77b3b0f3f3252e714a0569d082cbc
https://doi.org/10.1073/pnas.97.7.3473

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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

Autor: Nazan Kücükceylan, Raimund Fahsold, Peter Nürnberg, Andreas Gewies, Claudia Mischung, Sven Hoffmeyer, Hartmut Peters, Christoph Gille, Christian Ehlers, Maher Abdel-Nour, Sigrid Tinschert, Dieter Kaufmann, Annegret Buske

Publikováno v: The American Journal of Human Genetics. 66:790-818

More than 500 unrelated patients with neurofibromatosis type 1 (NF1) were screened for mutations in the NF1 gene. For each patient, the whole coding sequence and all splice sites were studied for aberrations, either by the protein truncation test (PT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::460fce244af58f3e0bd0035460acaddc
https://doi.org/10.1086/302809

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Quantitative analysis of NF1 and OMGP gene transcripts in sporadic gliomas, sporadic meningiomas and neurofibromatosis type 1-associated plexiform neurofibromas

Autor: Nils Peters, Andreas von Deimling, Andreas Waha, Sven Hoffmeyer, Otmar D. Wiestler, Doris Lenartz, Reinhard E Friedrich, Johannes Schramm, Ruth Wellenreuther, Victor F. Mautner

Publikováno v: Acta Neuropathologica. 97:547-551

The close association of neurofibromatosis type 1 (NF1) with gliomas raises the question of whether the NF1 gene may be involved in the pathogenesis of sporadic astrocytic brain tumors. However, no frequent mutations within NF1 have been described in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d8cf87766591e0304743c1005f79eb1
https://doi.org/10.1007/s004010051029

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Posttranslational regulation of neurofibromin content in melanocytes of neurofibromatosis type 1 patients

Autor: Ralf Müller, Sven Hoffmeyer, Dieter Kaufmann, Britta Bartelt

Publikováno v: Archives of Dermatological Research. 291:312-317

Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited disorder characterized by neurofibromas and café-au-lait macules. Most of the NF1 gene germline mutations result in a reduction in the level of neurofibromin. As shown recentl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f39a751c70ee30d8d5706d97b6bb9f5b
https://doi.org/10.1007/s004030050415

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EVI2B, a Gene Lying in an Intron of the Neurofibromatosis Type 1 (NF1) Gene, Is As the NF1 Gene Involved in Differentiation of Melanocytes and Keratinocytes and Is Overexpressed in Cells Derived from NF1 Neurofibromas

Autor: Susanne Gruener, Britta Bartelt, Dieter Kaufmann, Sven Hoffmeyer, Johann Griesser, Friederike Braun, Markus Stark

Publikováno v: DNA and Cell Biology. 18:345-356

The EVI2B gene is one of three genes embedded in intron 27b of the neurofibromatosis type 1 (NF1; M. Recklinghausen) gene, which are transcribed in the direction opposite that of the NF1 gene. The function of EVI2B and its relation to NF1 symptoms is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f45aaba8b2e1fabeae60dbc6aa82355
https://doi.org/10.1089/104454999315240

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Two independent mutations in a family with neurofibromatosis type 1 (NF1)

Autor: R Lehmann, Peter Nürnberg, Annegret Buske, D Hess, Hartmut Peters, A Klose, Sigrid Tinschert, Sven Hoffmeyer, A Lüder

Publikováno v: American Journal of Medical Genetics. 83:6-12

We report on two independent alterations of the NF1 gene in a three-generation kindred with neurofibromatosis type 1 (NF1). Using temperature gradient gel electrophoresis (TGGE) in a mutation analysis of exon 31 of the NF1 gene we detected the previo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::933a167aa9f430d4184c777e2b8da185
https://doi.org/10.1002/(sici)1096-8628(19990305)83:1<6::aid-ajmg3>3.0.co

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Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1

Autor: Klaus Scheffzek, Andreas Gewies, Peter Nürnberg, Frank Schmitz, A. Klose, Mohammad Reza Ahmadian, Sven Hoffmeyer, Alfred Wittinghofer, Hartmut Peters, Markus Schuelke, Dieter Kaufmann

Publikováno v: Human Molecular Genetics. 7:1261-1268

Neurofibromatosis type 1 (NF1) is a common familial tumour syndrome with multiple clinical features such as neurofibromas, café-au-lait spots (CLS), iris Lisch nodules, axillary freckling, optic glioma, specific bone lesions and an increased risk of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d603b6ee3e1091f2b48160e1f2af6091
https://doi.org/10.1093/hmg/7.8.1261

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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

Autor: Ingrid Eisenbarth, Günter Assum, Hildegard Kehrer-Sawatzki, Stefan Wortmann, Winfrid Krone, Sven Hoffmeyer, Klaus Däschner, Berno Heymer

Publikováno v: Biochemical and Biophysical Research Communications. 234:346-350

LOH at the NF1 locus was investigated in 38 neurofibromas of 26 NF1 patients. Only in one of these tumors LOH was observed. In this plexiform neurofibroma of a NF1 patient with a constitutional one base-pair insertion in NF1 exon 4b, a non-random X-i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb913688424b4b0caccb83203426eee
https://doi.org/10.1006/bbrc.1997.6645

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