Victor L Ruiz-Perez

Summary

Country: Spain

Publications

  1. doi request reprint 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
  2. ncbi request reprint 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
  3. pmc 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. doi request reprint 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. doi request reprint Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
    José A Caparrós-Martín
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas Universidad Autonoma de Madrid, Madrid, Spain
    Am J Med Genet A 161:1354-69. 2013
  6. pmc 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
  7. doi request reprint 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
  8. ncbi request reprint 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
  9. doi request reprint Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum
    Maria Trinidad Puig-Hervás
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas, Universidad Autonoma de Madrid, Madrid, Spain
    Hum Mutat 33:1444-9. 2012
  10. doi request reprint 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
  • Khalda Amr
  • Raffaella Zannolli
  • Chris P Ponting
  • Suhair S Eid
  • Bernd Wollnik
  • Maria Valencia
  • José A Caparrós-Martín
  • Pablo Lapunzina
  • Samia Temtamy
  • Mona Aglan
  • Maria Pacheco
  • Helen J Blair
  • Victor Martinez-Glez
  • Veronica Pulido
  • Maria Trinidad Puig-Hervás
  • Adel M Ashour
  • Samia A Temtamy
  • Stuart W J Tompson
  • Chantal Farra
  • Inmaculada Rueda-Arenas
  • Vanesa López-González
  • Francisca Mulero
  • Encarna Guillen-Navarro
  • María Juliana Ballesta-Martínez
  • Stuart Tompson
  • Jennifer Campbell
  • Yu Ning Liu
  • Katie Macarthur
  • Othman Al-Ajlouni
  • Derek Lim
  • Deborah Bartholdi
  • Helen Cox
  • Sabrina Buoni
  • Perez Aytes Antonio
  • Joseph Hayek
  • Maria L Martinez-Frias
  • Mona A El-Gammal
  • Guido Cocchi
  • Sanaa M H Helmy
  • Michael Wright
  • Mona S Aglan
  • Joanne L Robson
  • Michael J Wright
  • Stephanie Barton
  • Victoria Navarro

Detail Information

Publications10

  1. doi request reprint 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...
  2. ncbi request reprint 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...
  3. pmc 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. doi request reprint 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. doi request reprint Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations
    José A Caparrós-Martín
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas Universidad Autonoma de Madrid, Madrid, Spain
    Am J Med Genet A 161:1354-69. 2013
    ..Of note, insertion of an AluYb8 repetitive element was detected in exon 6 of SERPINF1. Since the studied patients had variable manifestations and some distinctive features, genotype/phenotype correlations are suggested...
  6. pmc 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...
  7. doi request reprint 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...
  8. ncbi request reprint 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...
  9. doi request reprint Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum
    Maria Trinidad Puig-Hervás
    Instituto de Investigaciones Biomedicas, Consejo Superior de Investigaciones Cientificas, Universidad Autonoma de Madrid, Madrid, Spain
    Hum Mutat 33:1444-9. 2012
    ..Thus, PLOD2 in addition to causing BS is also associated with AR-OI phenotypes of variable severity...
  10. doi request reprint 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...