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PUBLICACIONES

 

 

spacerTrabajos Publicados por José Antonio Caparrós Martín
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  1. Barbeito, P.; Martin-Morales, R.; Palencia-Campos, A.; Cerrolaza, J.; Rivas-Santos, C.; Gallego-Colastra, L.; Caparros-Martin, J.A.; Martin-Bravo, C.; Martin-Hurtado, A.; Sánchez-Bellver, L.; Marfany, G.; Ruiz-Perez, V.L.; Garcia-Gonzalo, F.R. "EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.". Front Cell Dev Biol. 11(): 1190258. (2023). (PMID: 37576597).
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  2. Piceci-Sparascio, F.; Palencia-Campos, A.; Soto-Bielicka, P.; Danzi, A.; Guida, V.; Rosati, J.; Caparros-Martin, J.A.; Torrente, I.; Cecilia D'Asdia, M.; Versacci, P.; Briuglia, S.; Lapunzina, P.; Tartaglia, M.; Marino, B.; Digilio, M.C.; Ruiz-Perez, V.L.; De Luca, A. "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.". Hum. Mutat.. (): . (2020). (PMID: 32906221).
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  3. Estañ, M.C.; Fernández-Núñez, E.; Zaki, M.S.; Esteban, M.I.; Donkervoort, S.; Hawkins, C.; Caparros-Martin, J.A.; Saade, D.; Hu, Y.; Bolduc, V.; Chao, K.R.; Nevado, J.; Lamuedra, A.; Largo, R.; Herrero-Beaumont, G.; Regadera, J.; Hernandez-Chico, C.; Tizzano, E.F.; Martinez-Glez, V.; Carvajal, J.J.; Zong, R.; Nelson, D.L.; Otaify, G.A.; Temtamy, S.; Aglan, M.; Issa, M.; Bönnemann, C.G.; Lapunzina, P.; Yoon, G.; Ruiz-Perez, V.L. "Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.". Nat Commun. 10(1): 797. (2019). (PMID: 30770808).
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  4. Caparrós-Martín, J.A.; de Luca, A.; Cartault, F.; Aglan, M.; Temtamy, S.; Otaify, G.A.; Mehrez, M.; Valencia, M.; Vázquez, L.; Alessandri, J.L.; Nevado, J.; Rueda-Arenas, I.; Heath, K.E.; Digilio, M.C.; Dallapiccola, B.; Goodship, J.A.; Mill, P.; Lapunzina, P.; Ruiz-Perez, V.L. "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.". Hum. Mol. Genet.. (): . (2015). (PMID: 25908617).
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  5. Valencia, M.; Caparrós-Martin, J.A.; Sirerol-Piquer, M.S.; García-Verdugo, J.M.; Martínez-Glez, V.; Lapunzina, P.; Temtamy, S.; Aglan, M.; Lund, A.M.; Nikkels, P.G.; Ruiz-Perez, V.L.; Ostergaard, E. "Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.". Am. J. Med. Genet. A. 164A(5): 1143-1150. (2014). (PMID: 24648371).
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  6. Caparrós-Martin, J.A.; Valencia, M.; Pulido, V.; Martínez-Glez, V.; Rueda-Arenas, I.; Amr, K.; Farra, C.; Lapunzina, P.; Ruiz-Perez, V.L.; Temtamy, S.; Aglan, M. "Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.". Am. J. Med. Genet. A. 161A(6): 1354-1369. (2013). (PMID: 23613367).
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  7. Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A.M.; Steiner, M.; Semler, O.; Fischer, B.; Yigit, G.; Janda, C.Y.; Becker, J.; Breer, S.; Altunoglu, U.; Grünhagen, J.; Krawitz, P.; Hecht, J.; Schinke, T.; Makareeva, E.; Lausch, E.; Cankaya, T.; Caparrós-Martín, J.A.; Lapunzina, P.; Temtamy, S.; Aglan, M.; Zabel, B.; Eysel, P.; Koerber, F.; Leikin, S.; Garcia, K.C.; Netzer, C.; Schönau, E.; Ruiz-Perez, V.L.; Mundlos, S.; Amling, M.; Kornak, U.; Marini, J.; Wollnik, B. "Mutations in WNT1 cause different forms of bone fragility.". Am. J. Hum. Genet.. 92(4): 565-574. (2013). (PMID: 23499309).
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  8. Caparrós-Martín, J.A.; Valencia, M.; Reytor, E.; Pacheco, M.; Fernandez, M.; Perez-Aytes, A.; Gean, E.; Lapunzina, P.; Peters, H.; Goodship, J.A.; Ruiz-Perez, V.L. "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.". Hum. Mol. Genet.. 22(1): 124-139. (2013). (PMID: 23026747).
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  9. Puig-Hervás, M.T.; Temtamy, S.; Aglan, M.; Valencia, M.; Martínez-Glez, V.; Ballesta-Martínez, M.J.; López-González, V.; Ashour, A.M.; Amr, K.; Pulido, V.; Guillén-Navarro, E.; Lapunzina, P.; Caparrós-Martín, J.A.; Ruiz-Perez, V.L. "Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.". Hum. Mutat.. 33(10): 1444-1449. (2012). (PMID: 22689593).
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  10. Martínez-Glez, V.; Valencia, M.; Caparrós-Martín, J.A.; Aglan, M.; Temtamy, S.; Tenorio, J.; Pulido, V.; Lindert, U.; Rohrbach, M.; Eyre, D.; Giunta, C.; Lapunzina, P.; Ruiz-Perez, V.L. "Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.". Hum. Mutat.. 33(2): 343-350. (2012). (PMID: 22052668).
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  11. Pacheco, M.; Valencia, M.; Caparrós-Martín, J.A.; Mulero, F.; Goodship, J.A.; Ruiz-Perez, V.L. "Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base.". Bone. 50(1): 28-41. (2012). (PMID: 21911092).
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  12. Lapunzina, P.; Aglan, M.; Temtamy, S.; Caparrós-Martín, J.A.; Valencia, M.; Letón, R.; Martínez-Glez, V.; Elhossini, R.; Amr, K.; Vilaboa, N.; Ruiz-Perez, V.L. "Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.". Am. J. Hum. Genet.. 87(1): 110-114. (2010). (PMID: 20579626).
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