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Showing 1–4 of 4 results

Advanced filters: Author: Adeline Fluteau Clear advanced filters

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Gain-of-function mutations altering the PWWP ___domain of DNMT3A are identified as a new cause of microcephalic dwarfism. These mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions.

Patricia Heyn
Clare V. Logan
Andrew P. Jackson
Research26 Nov 2018
Nature Genetics

Volume: 51, P: 96-105
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Andrew Jackson, Grant Stewart, Bernd Wollnik and colleagues identify TRAIP mutations in three patients with primordial dwarfism. They show that TRAIP is involved in DNA damage response during genome replication and is necessary for efficient cell cycle progression.

Margaret E Harley
Olga Murina
Andrew P Jackson
Research23 Nov 2015
Nature Genetics

Volume: 48, P: 36-43
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions

Mutations in all three genes encoding ribonuclease H2 sensitize cells to poly(ADP–ribose) polymerase inhibitors by compromising ribonucleotide excision repair.

Michal Zimmermann
Olga Murina
Daniel Durocher
Research04 Jul 2018
Nature

Volume: 559, P: 285-289
cGAS surveillance of micronuclei links genome instability to innate immunity

The cytoplasmic DNA sensor cGAS detects DNA in ruptured micronuclei and activates an innate immune response.

Karen J. Mackenzie
Paula Carroll
Andrew P. Jackson
Research24 Jul 2017
Nature

Volume: 548, P: 461-465