Publications by authors named "Emily Outwin"

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A novel role for the peptidyl-prolyl cis-trans isomerase Cyclophilin A in DNA-repair following replication fork stalling via the MRE11-RAD50-NBS1 complex.
Marisa Bedir, Emily Outwin, Rita Colnaghi, Lydia Bassett, Iga Abramowicz

EMBO Rep· August 2024

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HSP90-CDC37-PP5 forms a structural platform for kinase dephosphorylation.
Jasmeen Oberoi, Xavi Aran Guiu, Emily A Outwin, Pascale Schellenberger, Theodoros I Roumeliotis

Nat Commun· November 2022

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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
Hilde Van Esch, Rita Colnaghi, Kathleen Freson, Petro Starokadomskyy, Andreas Zankl, Emily Outwin

Am J Hum Genet· May 2019

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Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Iga Abramowicz, Gillian Carpenter, Mariaevelina Alfieri, Rita Colnaghi, Emily Outwin

Hum Mol Genet· January 2017

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Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner

PLoS Genet· June 2013

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CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
Claudia Kerzendorfer, Lesley Hart, Rita Colnaghi, Gillian Carpenter, Diana Alcantara, Emily Outwin

Mech Ageing Dev· August 2011

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Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
Emily Outwin, Gillian Carpenter, Weimin Bi, Marjorie A Withers, James R Lupski

PLoS Genet· August 2011

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SMC complexes and topoisomerase II work together so that sister chromatids can work apart.
Claudia Tapia-Alveal, Emily A Outwin, Natalia Trempolec, Dorota Dziadkowiec, Johanne M Murray

Cell Cycle· June 2010

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Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
Claudia Kerzendorfer, Annabel Whibley, Gillian Carpenter, Emily Outwin, Shih-Chieh Chiang

Hum Mol Genet· April 2010

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Smc5-Smc6-dependent removal of cohesin from mitotic chromosomes.
Emily A Outwin, Anja Irmisch, Johanne M Murray, Matthew J O'Connell

Mol Cell Biol· August 2009

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SUMO chain formation is required for response to replication arrest in S. pombe.
Andrew Skilton, Jenny C Y Ho, Brenda Mercer, Emily Outwin, Felicity Z Watts

PLoS One· August 2009

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Fission yeast Rnf4 homologs are required for DNA repair.
Ana Kosoy, Teresa M Calonge, Emily A Outwin, Matthew J O'Connell

J Biol Chem· July 2007

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