Rita Colnaghi

Rita Colnaghi

UNVERIFIED PROFILE

Are you Rita Colnaghi?   Register this Author

Register author
Rita Colnaghi

Rita Colnaghi

Publications by authors named "Rita Colnaghi"

Are you Rita Colnaghi?   Register this Author

15Publications

240Reads

27Profile Views

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Hum Mol Genet 2017 01;26(1):19-32

Human DNA damage Response Disorders Group, Genome Damage & Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddw364DOI Listing
January 2017

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

DNA Repair (Amst) 2013 Aug 23;12(8):637-44. Epub 2013 May 23.

Human DNA Damage Response Disorders Group, Genome Damage & Stability Centre, University of Sussex, Brighton, East Sussex BN1 9RQ, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dnarep.2013.04.016DOI Listing
August 2013

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

Hum Mol Genet 2012 May 10;21(10):2181-93. Epub 2012 Feb 10.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/dds033DOI Listing
May 2012

The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.

Semin Cell Dev Biol 2011 Oct 23;22(8):875-85. Epub 2011 Jul 23.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S108495211100096
Publisher Site
http://dx.doi.org/10.1016/j.semcdb.2011.07.010DOI Listing
October 2011

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.

Mech Ageing Dev 2011 Aug 23;132(8-9):366-73. Epub 2011 Feb 23.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton BN1 9RQ, UK.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00476374110002
Publisher Site
http://dx.doi.org/10.1016/j.mad.2011.02.003DOI Listing
August 2011

Threonine 48 in the BIR domain of survivin is critical to its mitotic and anti-apoptotic activities and can be phosphorylated by CK2 in vitro.

Cell Cycle 2011 Feb 1;10(3):538-48. Epub 2011 Feb 1.

School of Biomedical Sciences, University of Nottingham, Queen's Medical Centre, Nottingham, UK.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/abs/10.4161/cc.10.3.14758
Publisher Site
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115020PMC
http://dx.doi.org/10.4161/cc.10.3.14758DOI Listing
February 2011

Liaisons between survivin and Plk1 during cell division and cell death.

J Biol Chem 2010 Jul 28;285(29):22592-604. Epub 2010 Apr 28.

Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom.

View Article

Download full-text PDF

Source
http://www.jbc.org/lookup/doi/10.1074/jbc.M109.065003
Publisher Site
http://dx.doi.org/10.1074/jbc.M109.065003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2903399PMC
July 2010

Nuclear survivin has reduced stability and is not cytoprotective.

J Biol Chem 2008 Feb 5;283(6):3289-96. Epub 2007 Dec 5.

Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton BN1 9RQ, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M704461200DOI Listing
February 2008

Separating the anti-apoptotic and mitotic roles of survivin.

J Biol Chem 2006 Nov 1;281(44):33450-6. Epub 2006 Sep 1.

Genome Damage and Stability Centre, Department of Life Sciences, University of Sussex, Falmer, Brighton BN1 9RQ, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.C600164200DOI Listing
November 2006

Molecular analysis of survivin isoforms: evidence that alternatively spliced variants do not play a role in mitosis.

J Biol Chem 2006 Jan 16;281(2):1286-95. Epub 2005 Nov 16.

Genome Damage and Stability Centre, University of Sussex, Falmer, Brighton, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M508773200DOI Listing
January 2006