dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Durán Fernández, Mónica |
dc.contributor.author | Cantero Recasens, Gerard |
dc.contributor.author | Butnaru, Cristian M. |
dc.contributor.author | Malhotra, Vivek |
dc.contributor.author | Sarro Tauler, Eduard |
dc.contributor.author | Meseguer Navarro, Anna |
dc.contributor.author | Ariceta Iraola, Gema |
dc.contributor.author | Burballa Tàrrega, Carla |
dc.date.accessioned | 2022-06-17T10:38:15Z |
dc.date.available | 2022-06-17T10:38:15Z |
dc.date.issued | 2021-08-01 |
dc.identifier.citation | Durán M, Burballa C, Cantero-Recasens G, Butnaru CM, Malhotra V, Ariceta G, et al. Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function. Human Molecular Genetics. 2021 Aug 1;30(15):1413–28. |
dc.identifier.issn | 1460-2083 |
dc.identifier.uri | https://hdl.handle.net/11351/7708 |
dc.description | Malaltia de Dent 1; Models cel·lulars |
dc.description.sponsorship | This work was supported in part by Asdent Patients Association and grants from Ministerio de Ciencia e Innovación (SAF201459945-R and SAF201789989-R to A.M.), the Fundación Senefro (SEN2019 to A.M.) and Red de Investigación Renal REDinREN (12/0021/0013). A.M. group holds the Quality Mention from the Generalitat de Catalunya (2017 SGR). |
dc.language.iso | eng |
dc.publisher | Oxford University Press |
dc.relation.ispartofseries | Human Molecular Genetics;30(15) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Ronyons - Malalties |
dc.subject | Cromosoma X - Anomalies |
dc.subject | Malalties congènites |
dc.subject.mesh | Dent Disease |
dc.subject.mesh | Mutation |
dc.title | Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1093/hmg/ddab131 |
dc.subject.decs | enfermedad de Dent |
dc.subject.decs | mutación |
dc.relation.publishversion | https://doi.org/10.1093/hmg/ddab131 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Durán M, Cantero-Recasens G, Sarró E] CIBBIM Nanomedicina-Grup de Recerca en Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Burballa C] CIBBIM Nanomedicina-Grup de Recerca en Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain. [Butnaru CM] Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain. [Malhotra V] Centre for Genomic Regulation, The Barcelona Institute of Science and Technology, Barcelona, Spain. Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain. [Ariceta G] CIBBIM Nanomedicina-Grup de Recerca en Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Meseguer A] CIBBIM Nanomedicina-Grup de Recerca en Fisiopatologia Renal, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Departament de Bioquímica i Biologia Molecular, Unitat de Bioquímica de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Red de Investigación Renal (REDINREN), Instituto de Salud Carlos III-FEDER, Madrid, Spain |
dc.identifier.pmid | 33987651 |
dc.identifier.wos | 000731099700004 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |