Researcher profile · Semantic Scholar

R. Colnaghi

h-index: 19
Works: 31
Citations: 1,175

Most-cited papers

Separating the Anti-apoptotic and Mitotic Roles of Survivin*
R. Colnaghi, C. Connell, R. Barrett, S. Wheatley
2006Journal of Biological Chemistry143 citations Open access
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Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
F. Payne, R. Colnaghi, N. Rocha, A. Seth +12 more
2014Journal of Clinical Investigation103 citations Open access
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The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.
R. Colnaghi, G. Carpenter, M. Volker, M. O'Driscoll
2011Seminars in Cell and Developmental Biology94 citations Open access
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Nuclear Survivin Has Reduced Stability and Is Not Cytoprotective*
C. Connell, R. Colnaghi, S. Wheatley
2008Journal of Biological Chemistry88 citations Open access
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The crystal structure of a sulfurtransferase from Azotobacter vinelandii highlights the evolutionary relationship between the rhodanese and phosphatase enzyme families.
D. Bordo, D. Deriu, R. Colnaghi, A. Carpen +2 more
2000Journal of Molecular Biology78 citations
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Understanding the impact of 1q21.1 copy number variant
C. Harvard, E. Strong, Eloi Mercier, R. Colnaghi +16 more
2011Orphanet Journal of Rare Diseases62 citations Open access
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Interactions between the Nse3 and Nse4 Components of the SMC5-6 Complex Identify Evolutionarily Conserved Interactions between MAGE and EID Families
Jessica J R Hudson, K. Bednářová, L. Kozáková, C. Liao +7 more
2011PLoS ONE61 citations Open access
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Molecular Analysis of Survivin Isoforms
E. Noton, R. Colnaghi, Sharon Tate, C. Starck +3 more
2006Journal of Biological Chemistry58 citations Open access
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Liaisons between Survivin and Plk1 during Cell Division and Cell Death
R. Colnaghi, S. Wheatley
2010Journal of Biological Chemistry53 citations Open access
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Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Claudia Kerzendorfer, F. Hannes, R. Colnaghi, I. Abramowicz +3 more
2012Human Molecular Genetics50 citations Open access
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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
R. Barrett, R. Colnaghi, S. Wheatley
2011Cell Cycle47 citations Open access
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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, R. Colnaghi, G. Carpenter +4 more
2011Mechanisms of Ageing and Development45 citations Open access
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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism.
H. Van Esch, R. Colnaghi, K. Freson, P. Starokadomskyy +16 more
2019American Journal of Human Genetics42 citations Open access
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Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
H. Bagheri, C. Badduke, Y. Qiao, R. Colnaghi +15 more
2016JCI Insight31 citations Open access
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A Persulfurated Cysteine Promotes Active Site Reactivity in Azotobacter vinelandii Rhodanese
D. Bordo, F. Forlani, A. Spallarossa, R. Colnaghi +3 more
2001Biological chemistry31 citations
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Properties of the Escherichia coli rhodanese‐like protein SseA: contribution of the active‐site residue Ser240 to sulfur donor recognition
R. Colnaghi, G. Cassinelli, M. Drummond, F. Forlani +1 more
2001FEBS Letters30 citations Open access
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Strategies for increased ammonium production in free-living or plant associated nitrogen fixing bacteria
R. Colnaghi, A. Green, Luhong He, P. Rudnick +1 more
1997Plant and Soil30 citations
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Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
Claudia Kerzendorfer, R. Colnaghi, I. Abramowicz, G. Carpenter +1 more
2013DNA Repair29 citations Open access
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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
I. Abramowicz, G. Carpenter, M. Alfieri, R. Colnaghi +6 more
2016Human Molecular Genetics19 citations Open access
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DTYMK is essential for genome integrity and neuronal survival
J. Vanoevelen, J. Bierau, Janine A. C. Grashorn, E. Lambrichs +16 more
2021Acta Neuropathologica18 citations Open access
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Mutagenic analysis of Thr‐232 in rhodanese from Azotobacter vinelandii highlighted the differences of this prokaryotic enzyme from the known sulfurtransferases
S. Pagani, F. Forlani, A. Carpen, D. Bordo +1 more
2000FEBS Letters18 citations
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Properties of Azotobacter vinelandii rhodanese.
S. Pagani, G. Sessa, F. Sessa, R. Colnaghi
1993Biochemistry and molecular biology international15 citations
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Purification and characterization of an iron superoxide dismutase from the nitrogen‐fixing Azotobacter vinelandii
S. Pagani, R. Colnaghi, A. Palagi, A. Negri
1995FEBS Letters11 citations
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Molecular Analysis of the glnB, amtB, glnD and glnA Genes in Azotobacter Vinelandii
P. Rudnick, R. Colnaghi, A. Green, C. Kennedy
199810 citations
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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, E. Outwin, R. Colnaghi, Lydia Bassett +2 more
2023bioRxiv6 citations Open access
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SULFURTRANSFERASE FROM AZOTOBACTER VINELANDII
D. Bordo, D. Deriu, R. Colnaghi, A. Carpen +2 more
20003 citations
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Hypomorphism for human NSMCE2/MMS21 causes primordial dwarfism and insulin resistance
F. Payne, R. Colnaghi, N. Rocha, A. Seth +12 more
20140 citations
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The MAGE and EID proteins affect transcription regulation oftarget genes
L. Kozáková, K. Bednářová, Jessica J R Hudson, M. Guérineau +6 more
20100 citations
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The Nse3/MAGE and Nse4/EID proteins are involved intranscription regulation
J. Palecek, K. Bednářová, Jessica J R Hudson, L. Kozáková +6 more
20100 citations
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Italian multicenter retrospective analysis on the inhaled nitric oxide (iNO) therapy in pre terms parts per thousand 32 weeks gestational age (GA)
G. Martiri, C. Rondina, M. Catalani, F. Mosca +11 more
20070 citations
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Sulfurtransferase from Azotobacter vinelandii in complex with hypophosphite
D. Bordo, F. Forlani, A. Spallarossa, R. Colnaghi +3 more
20020 citations
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S. Wheatley

×5

D. Bordo×5

A. Carpen×5

E. Outwin×4

F. Forlani×4

Diana Alcantara×3

Jessica J R Hudson×3

K. Bednářová×3