Adeline Fluteau

Edinburgh, SCT EH42XU, United Kingdom

Last Updated: 09/26/2026

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Found 10 publications

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.

Journal: American journal of human genetics

Published: August 06, 2018

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

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

Journal: Nature genetics

Published: March 12, 2018

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.

RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.

Journal: The EMBO journal

Published: October 26, 2017

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.

Journal: Nature

Published: July 10, 2017

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.

Journal: Genes & development

Published: June 02, 2017

cGAS surveillance of micronuclei links genome instability to innate immunity.

cGAS surveillance of micronuclei links genome instability to innate immunity.

Journal: Nature

Published: July 03, 2016

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Journal: Genes & development

Published: June 29, 2016

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.

Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.

Journal: The EMBO journal

Published: October 23, 2015

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Journal: Nature genetics

Published: August 12, 2015

The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain.

The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain.

Journal: Neuroscience letters

Published: August 03, 2015

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Last Updated: 09/26/2026