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Page 1
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.
Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL. Puig-Hervás MT, et al. Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5. Hum Mutat. 2012. PMID: 22689593
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.
Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M. Caparrós-Martin JA, et al. Am J Med Genet A. 2013 Jun;161A(6):1354-69. doi: 10.1002/ajmg.a.35938. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613367
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.
Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL. Caparros-Martin JA, et al. Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan. Mol Genet Genomic Med. 2016. PMID: 28116328 Free PMC article.
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.
Caparrós-Martín JA, Valencia M, Reytor E, Pacheco M, Fernandez M, Perez-Aytes A, Gean E, Lapunzina P, Peters H, Goodship JA, Ruiz-Perez VL. Caparrós-Martín JA, et al. Hum Mol Genet. 2013 Jan 1;22(1):124-39. doi: 10.1093/hmg/dds409. Epub 2012 Oct 1. Hum Mol Genet. 2013. PMID: 23026747
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Caparrós-Martín JA, De Luca A, Cartault F, Aglan M, Temtamy S, Otaify GA, Mehrez M, Valencia M, Vázquez L, Alessandri JL, Nevado J, Rueda-Arenas I, Heath KE, Digilio MC, Dallapiccola B, Goodship JA, Mill P, Lapunzina P, Ruiz-Perez VL. Caparrós-Martín JA, et al. Hum Mol Genet. 2015 Jul 15;24(14):4126-37. doi: 10.1093/hmg/ddv152. Epub 2015 Apr 23. Hum Mol Genet. 2015. PMID: 25908617 Free PMC article.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Estañ MC, Fernández-Núñez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bönnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Estañ MC, et al. Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9. Nat Commun. 2019. PMID: 30770808 Free PMC article.
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A. Piceci-Sparascio F, et al. Hum Mutat. 2020 Dec;41(12):2087-2093. doi: 10.1002/humu.24112. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906221
43 results