Martin Digweed

Berlin, BE, Germany

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Journal: Human genetics
Published: February 11, 2022

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.

Journal: Cancer reports (Hoboken, N.J.)
Published: September 29, 2021

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Journal: Aging
Published: January 08, 2020

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.

Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.

Journal: PloS one
Published: June 06, 2018

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Journal: PloS one
Published: June 27, 2016

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: June 01, 2015

Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.

Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.

Journal: Mutation research
Published: April 03, 2014

Regulation of fibrillin-1 gene expression by Sp1.

Regulation of fibrillin-1 gene expression by Sp1.

Journal: Gene
Published: March 10, 2013

Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.

Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.

Journal: Gene
Published: January 08, 2013

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

The nuclease hSNM1B/Apollo is linked to the Fanconi anemia pathway via its interaction with FANCP/SLX4.

Journal: Human molecular genetics
Published: August 22, 2012

DNA repair 2008: Tenth Biennial Meeting of the German Society for Research on DNA Repair.

DNA repair 2008: Tenth Biennial Meeting of the German Society for Research on DNA Repair.

Journal: DNA repair
Published: November 18, 2008

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.

Journal: DNA repair
Published: July 29, 2004
Showing 1-12 of 16

Last Updated: 09/26/2026