Publications by authors named "Martin Digweed"

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The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Krystyna H Chrzanowska, Eva Seemanova, Raymonda Varon, Martin Digweed, Dorota Piekutowska-Abramczuk

Cancer Rep (Hoboken)· February 2023

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Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Heidemarie Neitzel, Raymonda Varon, Sana Chughtai, Josephine Dartsch, Véronique Dutrannoy-Tönsing, Martin Digweed

Hum Genet· November 2022

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Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.
Raneem Habib, Ryong Kim, Heidemarie Neitzel, Ilja Demuth, Krystyna Chrzanowska, Martin Digweed

Aging (Albany NY)· June 2020

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Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.
Ilja Demuth, Simon K Krebs, Véronique Dutrannoy, Christian Linke, Sylvia Krobitsch, Martin Digweed

PLoS One· April 2019

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The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Eva Seemanova, Raymonda Varon, Jan Vejvalka, Petr Jarolim, Pavel Seeman, Martin Digweed

PLoS One· July 2017

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Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed

J Clin Invest· May 2017

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Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.
Bastian Salewsky, Gabriele Hildebrand, Susanne Rothe, Ann Christin Parplys, Janina Radszewski, Martin Digweed

Mol Ther· February 2016

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Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.
Petra Wessendorf, Jan Vijg, André Nussenzweig, Martin Digweed

Mutat Res· November 2014

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Regulation of fibrillin-1 gene expression by Sp1.
Gao Guo, Christian Rödelsperger, Martin Digweed, Peter N Robinson

Gene· September 2013

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Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.
Bastian Salewsky, Petra Wessendorf, Daniel Hirsch, Harald Krenzlin, Martin Digweed

Gene· May 2013

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The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.
Bastian Salewsky, Maren Schmiester, Detlev Schindler, Martin Digweed, Ilja Demuth

Hum Mol Genet· November 2012

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DNA damage in Nijmegen Breakage Syndrome cells leads to PARP hyperactivation and increased oxidative stress.
Harald Krenzlin, Ilja Demuth, Bastian Salewsky, Petra Wessendorf, Kathrin Weidele, Martin Digweed

PLoS Genet· September 2012

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Nijmegen breakage syndrome (NBS).
Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed

Orphanet J Rare Dis· February 2012

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New mutations in the ATM gene and clinical data of 25 AT patients.
Ilja Demuth, Véronique Dutrannoy, Wilson Marques, Heidemarie Neitzel, Detlev Schindler, Martin Digweed

Neurogenetics· November 2011

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Nijmegen breakage syndrome protein (NBN) causes resistance to methylating anticancer drugs such as temozolomide.
Marcus Eich, Wynand P Roos, Grigory L Dianov, Martin Digweed, Bernd Kaina

Mol Pharmacol· November 2010

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Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
Véronique Dutrannoy, Ilja Demuth, Ulrich Baumann, Detlev Schindler, Kateryna Konrat, Martin Digweed

Hum Mutat· September 2010

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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.
Stephan Lins, Ryong Kim, Lars Krüger, Krystyna H Chrzanowska, Eva Seemanova, Martin Digweed

Gene· November 2009

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A systematic proteomic study of irradiated DNA repair deficient Nbn-mice.
Anna Melchers, Lars Stöckl, Janina Radszewski, Marco Anders, Harald Krenzlin, Martin Digweed

PLoS One· August 2009

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Evidence for hSNM1B/Apollo functioning in the HSP70 mediated DNA damage response.
Marco Anders, Jens Mattow, Martin Digweed, Ilja Demuth

Cell Cycle· June 2009

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DNA repair 2008: Tenth Biennial Meeting of the German Society for Research on DNA Repair.
Martin Digweed, Ilja Demuth, Lisa Wiesmüller

DNA Repair (Amst)· March 2009

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Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.
Ilja Demuth, Paul S Bradshaw, Anika Lindner, Marco Anders, Stefanie Heinrich, Martin Digweed

DNA Repair (Amst)· August 2008

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed

Proc Natl Acad Sci U S A· June 2008

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Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
Nadja Thierfelder, Ilja Demuth, Nadine Burghardt, Karin Schmelz, Karl Sperling, Martin Digweed

Eur J Cell Biol· February 2008

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Cancer risk of heterozygotes with the NBN founder mutation.
Eva Seemanová, Petr Jarolim, Pavel Seeman, Raymonda Varon, Martin Digweed

J Natl Cancer Inst· December 2007

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Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
Lars Krüger, Ilja Demuth, Heidemarie Neitzel, Raymonda Varon, Karl Sperling, Martin Digweed

Carcinogenesis· January 2007

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