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| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 2022 | A novel GATA1 variant in the c-terminal zinc finger compared with theplatelet phenotype of patients with a likely pathogenic variant in the n-terminal zinc finger | Bastida, José María; Malvestiti, Stefano; Boeckelmann, Doris; Palma-Barqueros, Verónica; Wolter, Mira; Lozano, María L.; Glonnegger, Hannah; Benito, Rocío; Zaninetti, Carlo; Sobotta, Felix; Schilling, Freimut H.; Morgan, Neil V.; Freson, Kathleen; Rivera, José; Zieger, Barbara | artículo |
| openAccess |  | mar-2021 | A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis | Palma-Barqueros, Verónica; Crescente, Marilena; Morena, María Eugenia de la; Chan, Melissa V.; Almarza, Elena; Revilla, Nuria; Bohdan, Natalia; Miñano, Antonia; Padilla, Jose; Allan, Harriet E.; Maffucci, Tania; Edin, Matthew L.; Zeldin, Darryl C.; Mesa-Nuñez, Cristina; Damian, Carlos; Marín-Quilez, Ana; Benito, Rocío; Martínez-Martínez, Irene; Bermejo, Nuria; Casas-Aviles, Ignacio; Rodriguez-Alén, Agustín; González-Porras, José R.; Hernández, Jesús M. CSIC ORCID ; Vicente, Vicente; Corral, J.; Lozano, María L.; Warner, Timothy D.; Bastida, José María; Rivera, José | carta al director |
| openAccess |  | may-2022 | A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling | Marín-Quilez, Ana; Vuelta, Elena; Díaz‐Ajenjo, Lorena; Fernández‐Infante, Cristina; García-Tuñón, Ignacio CSIC ORCID CVN; Benito, Rocío; Palma-Barqueros, Verónica; Hernández, Jesús M. CSIC ORCID ; González‐Porras, José Ramón; Rivera, José; Bastida, José María | artículo |
| closedAccess |  | 2020 | ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction | Bastida, José María; Benito, Rocío; González-Porras, José R.; Rivera, José | artículo |
| openAccess |  | 26-jun-2013 | BRMS151-98 and BRMS151-84 are crystal oligomeric coiled coils with different oligomerization states, which behave as disordered protein fragments in solution | Spínola-Amilibia, Mercedes CSIC ORCID ; Rivera, José; Ortiz-Lombardía, Miguel CSIC; Romero, Antonio CSIC ORCID ; Neira, José L. CSIC ORCID; Bravo, Jerónimo CSIC ORCID | artículo |
| closedAccess |  | 2021 | Characterization of the platelet phenotype caused by a germline RUNX1 Variant in a CRISPR/Cas9-generated murine model | Marín-Quilez, Ana; García-Tuñón, Ignacio CSIC ORCID CVN; Fernández-Infante, Cristina; Hernández-Cano, Luis; Palma-Barqueros, Verónica; Vuelta, Elena; Sánchez-Martín, M. ; González-Porras, José R.; Guerrero Arroyo, María del Carmen CSIC ORCID ; Benito, Rocío; Rivera, José; Hernández, Jesús M. CSIC ORCID ; Bastida, José María | artículo |
| openAccess |  | 1-dic-2008 | Crystallization and preliminary X-ray diffraction analysis of a breast cancer metastasis suppressor 1 predicted coiled-coil region | Spínola-Amilibia, Mercedes CSIC ORCID ; Rivera, José; Bravo, Jerónimo CSIC ORCID | artículo |
| openAccess |  | 28-dic-2021 | Expanding the genetic spectrum of TUBB1-related thrombocytopenia | Palma-Barqueros, Verónica; Bury, Loredana; Kunishima, Shinji; Lozano, María L.; Rodriguez-Alén, Agustín; Revilla, Nuria; Bohdan, Natalia; Padilla, Jose; Fernández-Pérez, M. P.; Morena-Barrio, M. E. de la; Marín-Quilez, Ana; Benito, Rocío; López-Fernández, María F.; Marcellini, S.; Zamora-Cánovas, Ana; Vicente, Vicente; Martínez, Constantino; Gresele, Paolo; Bastida, José María; Rivera, José | artículo |
|  | 2023 | GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction | Marín-Quilez, Ana; Buduo, Christian A. Di; Benito, Rocío; Balduini, Alessandra; Rivera, José; Bastida, José María | artículo de revisión |
| closedAccess | | jun-2011 | Hutchinson-Gilford progeria syndrome, cardiovascular disease and oxidative stress | Trigueros-Motos, Laia; González, José María; Rivera, José; Andrés, Vicente CSIC ORCID | artículo |
| closedAccess | | 2004 | Identification of cellular proteins modified in response to African swine fever virus infection by proteomics | Alfonso, P.; Rivera, José; Hernáez, Bruno CSIC ORCID; Alonso Martí, Covadonga; Escribano, J. M. | artículo |
| openAccess |  | 30-jul-2009 | Identification of Essential Sequences for Cellular Localization in BRMS1 Metastasis Suppressor | Rivera, José; Megías, Diego; Navas, Carolina; Bravo, Jerónimo CSIC ORCID | artículo |
|  | 2023 | Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation | Marín-Quilez, Ana; Díaz-Ajenjo, Lorena; Buduo, Christian A. Di; Zamora-Cánovas, Ana; Lozano, María L.; Benito, Rocío; González-Porras, José R.; Balduini, Alessandra; Rivera, José; Bastida, José María | artículo de revisión |
| openAccess |  | 2018 | Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders | Bastida, José María; Lozano, María L.; Benito, Rocío; Janusz, Kamila; Palma-Barqueros, Verónica; Rey, Mónica del; Hernandez-Sánchez, Jesus M.; Riesco, Susana; Bermejo, Nuria; González-García, Hermenegildo; Rodriguez-Alén, Agustín; Aguilar, Carlos; Sevivas, Teresa; López-Fernández, María F.; Marneth, Anna E.; Reijden, Bert A. van der; Morgan, Neil V.; Watson, Steve P.; Vicente, Vicente; Hernández, Jesús M. CSIC ORCID ; Rivera, José; González-Porras, José R. | artículo |
| openAccess |  | 2010 | L718P mutation in the membrane-proximal cytoplasmic tail of [beta]3 promotes abnormal [alpha]IIb[beta]3 clustering and lipid microdomain coalescence, and associates to thrombasthenia-like phenotype | Jayo, Asier CSIC ORCID CVN; Conde, Isabel CSIC; Lastres, Pedro ; Martínez, Constantino; Rivera, José; Vicente, Vicente; González-Manchón, Consuelo CSIC ORCID | artículo |
| closedAccess |  | 2019 | Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders | Bastida, José María; Benito, Rocío; Lozano, María L.; Marín-Quilez, Ana; Janusz, Kamila; Martín-Izquierdo, Marta; Hernandez-Sánchez, Jesus M.; Palma-Barqueros, Verónica; Hernández, Jesús M. CSIC ORCID ; Rivera, José; González-Porras, José R. | artículo |
| openAccess |  | 26-ene-2023 | Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis | Marín-Quilez, Ana; Buduo, Christian A. Di; Díaz-Ajenjo, Lorena; Abbonante, Vittorio; Vuelta, Elena; Soprano, Paolo Maria; Miguel, Cristina; Santos-Mínguez, Sandra; Serramito-Gómez, Inmaculada CSIC ORCID; Ruiz-Sala, Pedro; Peñarrubia, María J.; Pardal, Emilia; Hernández, Jesús M. CSIC ORCID ; González-Porras, José R.; García-Tuñón, Ignacio CSIC ORCID CVN; Benito, Rocío; Rivera, José; Balduini, Alessandra; Bastida, José María | artículo |
| openAccess |  | 15-dic-2010 | Sorting Nexin 6 interacts with Breast Cancer Metastasis Suppressor-1 and promotes transcriptional repression | Rivera, José; Megías, Diego; Bravo, Jerónimo CSIC ORCID | artículo |
| closedAccess | | 2007 | The MyD116 African swine fever virus homologue interacts with the catalytic subunit of protein phosphatase 1 and activates its phosphatase activity | Rivera, José; Abrams, C.; Hernáez, Bruno CSIC ORCID; Alcázar, A.; Escribano, J. M.; Dixon, Linda; Alonso Martí, Covadonga | artículo |
| openAccess |  | 18-jul-2011 | The structure of BRMS1 nuclear export signal and SNX6 interacting region reveals a hexamer formed by antiparallel coiled coils | Spínola-Amilibia, Mercedes CSIC ORCID ; Rivera, José; Ortiz-Lombardía, Miguel CSIC; Romero, Antonio CSIC ORCID ; Neira, José L. CSIC ORCID; Bravo, Jerónimo CSIC ORCID | artículo |
