Victor L Ruiz-Perez

Summary

Country: Spain

Publications

  1. ncbi Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
    Victor L Ruiz-Perez
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Development 134:2903-12. 2007
  2. ncbi Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands
    Victor L Ruiz-Perez
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas Universidad Autó noma de Madrid, Spain
    Am J Med Genet C Semin Med Genet 151:341-51. 2009
  3. ncbi Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
    Victor L Ruiz-Perez
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Am J Hum Genet 72:728-32. 2003
  4. ncbi Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
    Maria Valencia
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas Universidad Autónoma de Madrid and CIBER de Enfermedades Raras CIBERER, Madrid, Spain
    Hum Mutat 30:1667-75. 2009
  5. ncbi Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus
    Helen J Blair
    Institute of Human Genetics, Newcastle University, Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    BMC Biol 9:14. 2011
  6. ncbi Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base
    Maria Pacheco
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas Universidad Autónoma de Madrid and Ciber de enfermedades raras, Arturo Duperier 4, Madrid 28029, Spain
    Bone 50:28-41. 2012
  7. ncbi Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients
    Stuart W J Tompson
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, UK
    Hum Genet 120:663-70. 2007
  8. ncbi Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
    Samia A Temtamy
    Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Hum Mutat 29:931-8. 2008

Collaborators

  • J Goodship
  • Raffaella Zannolli
  • Chris P Ponting
  • Suhair S Eid
  • Bernd Wollnik
  • Maria Valencia
  • Maria Pacheco
  • Helen J Blair
  • Pablo Lapunzina
  • Samia A Temtamy
  • Stuart W J Tompson
  • Francisca Mulero
  • José A Caparrós-Martín
  • Katie Macarthur
  • Yu Ning Liu
  • Jennifer Campbell
  • Stuart Tompson
  • Othman Al-Ajlouni
  • Sabrina Buoni
  • Samia Temtamy
  • Perez Aytes Antonio
  • Derek Lim
  • Mona Aglan
  • Helen Cox
  • Deborah Bartholdi
  • Joseph Hayek
  • Maria L Martinez-Frias
  • Khalda S Amr
  • Adel M Ashour
  • Sanaa M H Helmy
  • Guido Cocchi
  • Mona S Aglan
  • Michael Wright
  • Mona A El-Gammal
  • Michael J Wright
  • Joanne L Robson
  • Victoria Navarro
  • Stephanie Barton

Detail Information

Publications8

  1. ncbi Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
    Victor L Ruiz-Perez
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Development 134:2903-12. 2007
    ..We conclude that Evc is an intracellular component of the hedgehog signal transduction pathway that is required for normal transcriptional activation of Ihh target genes...
  2. ncbi Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands
    Victor L Ruiz-Perez
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas Universidad Autó noma de Madrid, Spain
    Am J Med Genet C Semin Med Genet 151:341-51. 2009
    ..We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result from tissue specific disruption of the response to Hh ligands...
  3. ncbi Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
    Victor L Ruiz-Perez
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Am J Hum Genet 72:728-32. 2003
    ..These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable...
  4. ncbi Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
    Maria Valencia
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas Universidad Autónoma de Madrid and CIBER de Enfermedades Raras CIBERER, Madrid, Spain
    Hum Mutat 30:1667-75. 2009
    ....
  5. ncbi Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus
    Helen J Blair
    Institute of Human Genetics, Newcastle University, Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    BMC Biol 9:14. 2011
    ..The gene encoding Evc2 is in close proximity in divergent orientation to Evc and mutations in both human genes lead to the chondrodysplasia Ellis-van Creveld syndrome...
  6. ncbi Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base
    Maria Pacheco
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Científicas Universidad Autónoma de Madrid and Ciber de enfermedades raras, Arturo Duperier 4, Madrid 28029, Spain
    Bone 50:28-41. 2012
    ..Finally, we report cranial base defects in Evc(-/-) mice and reveal that Evc is essential for intrasphenoidal synchondrosis development...
  7. ncbi Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients
    Stuart W J Tompson
    Institute of Human Genetics, Newcastle University, Central Parkway, Newcastle upon Tyne, UK
    Hum Genet 120:663-70. 2007
    ..As we have not identified mutations in either gene in 20 cases (31%) it is possible that there is further genetic heterogeneity...
  8. ncbi Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence
    Samia A Temtamy
    Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
    Hum Mutat 29:931-8. 2008
    ..These findings highlight the importance of L1 repetitive sequences in human genome architecture and disease...