Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Petra Wessendorf"'
Autor:
Harald Krenzlin, Ilja Demuth, Bastian Salewsky, Petra Wessendorf, Kathrin Weidele, Alexander Bürkle, Martin Digweed
Publikováno v:
PLoS Genetics, Vol 8, Iss 3, p e1002557 (2012)
Nijmegen Breakage Syndrome (NBS), an autosomal recessive genetic instability syndrome, is caused by hypomorphic mutation of the NBN gene, which codes for the protein nibrin. Nibrin is an integral member of the MRE11/RAD50/NBN (MRN) complex essential
Externí odkaz:
https://doaj.org/article/3ad90f2549d343d298557ecc4cf9ab24
Autor:
Janina Radszewski, André Nussenzweig, Karl Sperling, Harald Krenzlin, Martin Digweed, Kerstin Borgmann, Gabriele Hildebrand, Ann Christin Parplys, Petra Wessendorf, Bastian Salewsky, Moritz Kieslich, Susanne Rothe
Publikováno v:
Molecular Therapy. 24(1):117-124
Over 90% of patients with Nijmegen breakage syndrome (NBS), a hereditary cancer disorder, are homoallelic for a 5 bp deletion in the NBN gene involved in the cellular response to DNA damage. This hypomorphic mutation leads to a carboxy-terminal prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26aabfcfea4d27f579e190f9840d68f0
Publikováno v:
Mutation research. 769
Nibrin (NBN) is a member of a DNA repair complex together with MRE11 and RAD50. The complex is associated particularly with the repair of DNA double strand breaks and with the regulation of cell cycle check points. Hypomorphic mutation of components
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d16d4fec6309851b0e635d1bbe90399
https://pubmed.ncbi.nlm.nih.gov/25771721
https://pubmed.ncbi.nlm.nih.gov/25771721
Autor:
Marion Herrmann, Joachim Klose, Nadine Rohwer, Katja Freitag de Molina, Petra Wessendorf, Thorsten Cramer, Stefan Mergler, Oliver Klein
Publikováno v:
Proteomics. Clinical applications. 7(11-12)
Purpose The majority of gastric cancers are diagnosed at advanced stages, characterized by robust therapy resistance. The oncoprotein hypoxia-inducible factor 1 (HIF-1) is associated with therapy resistance, partly via activation of the DNA damage re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae24bbe61e0feb7a4b2547acb046c13
https://pubmed.ncbi.nlm.nih.gov/24323455
https://pubmed.ncbi.nlm.nih.gov/24323455
Publikováno v:
Gene. 519(2)
The autosomal recessive disorder Nijmegen breakage syndrome (NBS) is caused by mutations in the NBN gene which codes for the protein nibrin (NBS1; p95). In the majority of cases, a 5 bp deletion, a founder mutation, leads to a hypomorphic 70 kD prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59d688abd484ad55fa279e74473d0996
https://pubmed.ncbi.nlm.nih.gov/23458873
https://pubmed.ncbi.nlm.nih.gov/23458873
Publikováno v:
Cancer genomicsproteomics. 6(6)
High-penetrance mutations in a small group of genes have been identified as the causal agent of colorectal cancer (CRC) in high-risk families. Our understanding of the sporadic cases is, however, much more limited and only in the past two years have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a7fbcab6c50178bb5bbc06218733bdc3
https://pubmed.ncbi.nlm.nih.gov/20065317
https://pubmed.ncbi.nlm.nih.gov/20065317
Autor:
Bastian Salewsky, Petra Wessendorf, Alexander Bürkle, Kathrin Weidele, Martin Digweed, Ilja Demuth, Harald Krenzlin
Publikováno v:
PLoS Genetics, Vol 8, Iss 3, p e1002557 (2012)
PLoS Genetics
PLoS Genetics
Nijmegen Breakage Syndrome (NBS), an autosomal recessive genetic instability syndrome, is caused by hypomorphic mutation of the NBN gene, which codes for the protein nibrin. Nibrin is an integral member of the MRE11/RAD50/NBN (MRN) complex essential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::508e59e71b0af208afc1b2e2950e16b1
https://doi.org/10.1371/journal.pgen.1002557
https://doi.org/10.1371/journal.pgen.1002557
Autor:
Petra Wessendorf, Annika Lindblom
Publikováno v:
Cancer Research. 70:2205-2205
A study on twins [N Engl J Med. 13; 78-85, 2000] estimated that the genetic contribution in colorectal cancer (CRC) accounts for 35% of cases, but only ∼5% are attributable to known inherited syndromes. Recently it has been hypothesized that the pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d9cd64a916ae16b6e74c43026ba676a
https://doi.org/10.1158/1538-7445.am10-2205
https://doi.org/10.1158/1538-7445.am10-2205