Genomes and Genes
Victor L Ruiz-Perez
- Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligandsVictor 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...
- Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte ciliaVictor 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...
- Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndromeVictor 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...
- Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria 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....
- Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlationsJosé 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...
- Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleusHelen 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...
- Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial baseMaria 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...
- Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patientsStuart 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...
- Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrumMaria 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...
- Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligenceSamia 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...