ePrints

The Newcastle University research output collection, currently available on ePrints, will shortly be moving to a new open repository platform, Figshare. To prepare for the data migration we have paused adding new content to ePrints, and will resume once the new repository is launched. During this time you will continue to have access to ePrints (but no new content will appear). We will share updates here when available.

Browsing publications by Dr Victor Ruiz-Perez

Newcastle Authors	Title	Year	Full text
Dr Brian Wilson Dr Victor Ruiz-Perez	Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2	2020
Dr Mitsushiro Nakatomi Dr Helen Blair Katie MacArthur Dr Victor Ruiz-Perez Professor Judith Goodship et al.	Evc regulates a symmetrical response to Shh signaling in molar development	2013
Dr Heiko Peters Professor Judith Goodship Dr Victor Ruiz-Perez	The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia	2013
Professor Judith Goodship Dr Victor Ruiz-Perez	Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base	2012
Dr Helen Blair Dr Stuart Tompson Yu-Ning Liu Dr Jennifer Campbell Katie MacArthur et al.	Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus	2011
Dr Victor Ruiz-Perez Professor Judith Goodship	Ellis-van Creveld Syndrome and Weyers Acrodental Dysostosis Are Caused by Cilia-Mediated Diminished Response to Hedgehog Ligands	2009
Professor Judith Goodship Dr Victor Ruiz-Perez	Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling	2009
Professor Judith Goodship Dr Victor Ruiz-Perez	Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in ellis-van Creveld syndrome with borderline intelligence	2008
Dr Victor Ruiz-Perez Dr Helen Blair Dr Colin Miles Dr Heiko Peters Professor Judith Goodship	Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia	2007
Dr Stuart Tompson Dr Victor Ruiz-Perez Dr Helen Blair Dr Michael Wright Professor Judith Goodship	Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients	2007
Dr Victor Ruiz-Perez Professor Judith Goodship	Disparate roles of ATR and ATM in immunoglobulin class switch recombination and somatic hypermutation	2006
Dr Victor Ruiz-Perez Professor Judith Goodship	A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome	2003
Dr Victor Ruiz-Perez Dr Stuart Tompson Dr Helen Blair Dr Michael Wright Professor Judith Goodship	Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome	2003
Dr Stuart Tompson Dr Victor Ruiz-Perez Professor Judith Goodship	Ellis- van Creveld: A genetically heterogenous syndrome?	2002
Dr Donna Hagan Alison Ross Professor Tom Strachan Dr Sally Lynch Dr Victor Ruiz-Perez	Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene	2000
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