Publications by Dr Victor Ruiz-Perez - ePrints

Browsing publications by Dr Victor Ruiz-Perez.

Newcastle Authors	Title	Year
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 et al.	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 et al.	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 et al.	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 et al.	Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene	2000
Dr Donna Hagan Alison Ross Professor Tom Strachan Dr Victor Ruiz-Perez Emerita Professor Susan Lindsay et al.	Mutation analysis anti embryonic expression of the HLXB9 currarino syndrome gene	2000
Dr Victor Ruiz-Perez Dr Michael Wright Professor Judith Goodship	Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis	2000
Dr Victor Ruiz-Perez	Overexpression of the crgA gene abolishes light requirement for carotenoid biosynthesis in Mucor circinelloides	2000
Dr Victor Ruiz-Perez Simon Carter Dr Eugene Healy Carole Todd Professor Jonathan Rees et al.	ATP2A2 mutations in Darier's disease: Variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class	1999
Dr Victor Ruiz-Perez Simon Carter Dr Eugene Healy Professor Jonathan Rees Professor Tom Strachan et al.	Classical and variant Darier disease due to mutation in ATP2A2	1999
Dr Victor Ruiz-Perez Simon Carter Carole Todd Professor Jonathan Rees Professor Tom Strachan et al.	Expression of SERCA2 isoforms in skin, and mutations in Darier's disease	1999
Dr Victor Ruiz-Perez Professor Tom Strachan	Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease	1999
Dr Victor Ruiz-Perez Dr Donna Hagan Dr Sally Lynch Emerita Professor Susan Lindsay Dr David Wilson et al.	A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis	1998
Simon Carter Dr Victor Ruiz-Perez Professor Jonathan Rees Professor Tom Strachan	Refined genetic mapping of the Darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region	1998