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Human Molecular Genetics

imatge Central Grup Recerca

Scientific Team


Research lines

Molecular bases of inherited diseases (cystinuria, LPI, Wolfram syndrome and megalencephalic leukoencephalopathy with subcortical cysts) and mitochondrial genetics.

 

Cystic Fibrosis


Male infertility


Cell signaling. Transplantation and immunosuppressors


Gene/cell transfer/therapy, transplantation, and immune-inflammatory processes


ARTICLES 2013-2014

 

(2014)

 

Martínez-González I, Cruz MJ, Moreno R, Morell F, Muñoz X, Aran JM.

Human mesenchymal stem cells resolve airway inflammation, hyperreactivity, and histopathology in a mouse model of occupational asthma.

STEM CELLS DEV 2014 Oct 1;23(19):2352-63.

 

Luque A, Farwati A, Crovetto F, Crispi F, Figueras F, Gratacós E, Aran JM.

Usefulness of circulating microRNAs for the prediction of early preeclampsia at first-trimester of pregnancy.

SCI REP.  2014 May 8;4:4882.

 

Ramos MD, Trujillano D, Olivar R, Sotillo F, Ossowski S, Manzanares J, Costa J, Gartner S, Oliva C, Quintana E, Gonzalez MI, Vazquez C, Estivill X, Casals T 

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes.

CLIN GENET.2014 Jul;86(1):91-5.

 

Masvidal L, Igreja S, Ramos MD, Alvarez A, de Gracia J, Ramalho A, Amaral MD, Larriba S, Casals T.

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

EUR J HUM GENET. 2014 Jun;22(6):784-91.

 

Muñoz X, Navarro M, Mata A, Bassas L, Larriba S.

Association of PIWIL4 genetic variants with germ cell maturation arrest in infertile Spanish men.

ASIAN J ANDROL. 2014 Sep-Oct;16(5):931-3.

 

Ferreira HJ, Heyn H, Garcia del Muro X, Vidal A, Larriba S, Muñoz C, Villanueva A, Esteller M.

Epigenetic loss of the PIWI/piRNA machinery in human testicular tumorigenesis.

EPIGENETICS. 2014 Jan 1;9(1):113-8. 

 

Bonache S, Algaba F, Franco E, Bassas L, Larriba S.

Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure.

ANDROLOGY. 2014 Jul;2(4):596-606.

 

Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A.

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.

HUM MOL GENET. 2014 Oct 1;23(19):5069-86.

 

García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB.

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.

HUM MUTAT. 2014 Apr;35(4):470-7.

 

Hoegg-Beiler MB, Sirisi S, Orozco IJ, Ferrer I, Hohensee S, Auberson M, Gödde K, Vilches C, de Heredia ML, Nunes V, Estévez R, Jentsch TJ.

Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails glial chloride channel dysfunction.

NAT COMMUN. 2014 Mar 19;5:3475. 

 

Núñez B, Martínez de Mena R, Obregon MJ, Font-Llitjós M, Nunes V, Palacín M, Dumitrescu AM, Morte B, Bernal J.

Cerebral cortex hyperthyroidism of newborn mct8-deficient mice transiently suppressed by lat2 inactivation.

PLOS ONE. 2014 May 12;9(5):e96915.

 

Serrano-Candelas E, Farré D, Aranguren-Ibáñez Á, Martínez-Høyer S, Pérez-Riba M.

The vertebrate RCAN gene family: novel insights into evolution, structure and regulation.

PLOS ONE. 2014 Jan 20;9(1):e85539. 

 

(2013)

 

Martínez-González I, Roca O, Masclans JR, Moreno R, Salcedo MT, Baekelandt V, Cruz MJ, Rello J, Aran JM.

Human mesenchymal stem cells overexpressing the IL-33 antagonist soluble IL-1 receptor-like-1 attenuate endotoxin-induced acute lung injury.

AM J RESPIR CELL MOL BIOL. 2013 Oct;49(4):552-62. 

 

Franquesa M, Hoogduijn MJ, Reinders ME, Eggenhofer E, Engela AU, Mensah FK, Torras J, Pileggi A, van Kooten C, Mahon B, Detry O, Popp FC, Benseler V, Casiraghi F, Johnson C, Ancans J, Fillenberg B, delaRosa O, Aran JM, Roemeling-van Rhijn M, Pinxteren J, Perico N, Gotti E, Christ B, Reading J, Introna M, Deans R, Shagidulin M, Farré R, Rambaldi A, Sanchez-Fueyo A, Obermajer N, Pulin A, Dor FJ, Portero-Sanchez I, Baan CC, Rabelink TJ, Remuzzi G, Betjes MG, Dahlke MH, Grinyó JM; MiSOT Study Group.

Mesenchymal Stem Cells in Solid Organ Transplantation (MiSOT) Fourth Meeting: lessons learned from first clinical trials.

TRANSPLANTATION. 2013 Aug 15;96(3):234-8. 

 

Ripoll È, Merino A, Herrero-Fresneda I, Aran JM, Goma M, Bolaños N, de Ramon L, Bestard O, Cruzado JM, Grinyó JM, Torras J.

CD40 gene silencing reduces the progression of experimental lupus nephritis modulating local milieu and systemic mechanisms.

PLOS ONE. 2013 Jun 14;8(6):e65068. 

 

Olivar R, Luque A, Naranjo-Gómez M, Quer J, García de Frutos P, Borràs FE, Rodríguez de Córdoba S, Blom AM, Aran JM.

The α7β0 isoform of the complement regulator C4b-binding protein induces a semimature, anti-inflammatory state in dendritic cells.

J IMMUNOL. 2013 Mar 15;190(6):2857-72. 

 

Ripoll E, Merino A, Goma M, Aran JM, Bolaños N, de Ramon L, Herrero-Fresneda I, Bestard O, Cruzado JM, Grinyó JM, Torras J.

Correction: CD40 Gene Silencing Reduces the Progression of Experimental Lupus Nephritis Modulating Local Milieu and Systemic Mechanisms.

PLOS ONE. 2013 Aug 20;8(8).

 

Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X.

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.

J MED GENET. 2013 Jul;50(7):455-62. 

 

Di Giacopo A, Rubio-Aliaga I, Cantone A, Artunc F, Rexhepaj R, Frey-Wagner I, Font-Llitjós M, Gehring N, Stange G, Jaenecke I, Mohebbi N, Closs EI, Palacín M, Nunes V, Daniel H, Lang F, Capasso G, Wagner CA.

Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+AT (Slc7a9) in mice.

AM J PHYSIOL RENAL PHYSIOL. 2013 Dec 15;305(12):F1645-55.

 

Capdevila-Nortes X, López-Hernández T, Apaja PM, López de Heredia M, Sirisi S, Callejo G, Arnedo T, Nunes V, Lukacs GL, Gasull X, Estévez R.

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.

HUM MOL GENET. 2013 Nov 1;22(21):4405-16.

 

Martínez-Høyer S, Aranguren-Ibáñez A, García-García J, Serrano-Candelas E, Vilardell J, Nunes V, Aguado F, Oliva B, Itarte E, Pérez-Riba M.

Protein kinase CK2-dependent phosphorylation of the human Regulators of Calcineurin reveals a novel mechanism regulating the calcineurin-NFATc signaling pathway.

BIOCHIM BIOPHYS ACTA. 2013 Oct;1833(10):2311-21.

 

Farmer A, Aymé S, de Heredia ML, Maffei P, McCafferty S, Młynarski W, Nunes V, Parkinson K, Paquis-Flucklinger V, Rohayem J, Sinnott R, Tillmann V, Tranebjaerg L, Barrett TG.

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.

BMC PEDIATR. 2013 Aug 27;13:130. 

 

de Heredia ML, Clèries R, Nunes V.

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

GENET MED. 2013 Jul;15(7):497-506.

ACTIVE PROJECTS


Desarrollo de fármacos a células madre tumorales (CSCs) mediante cribado de librerías sintéticas utilizando GPCRs, quinasa e interacción y la interacción calcineurina-NFAT como dianas.” Proyecto Retos-Colaboración 2015  Financiado por el Ministerio de Economía y Competitividad – Fondo Europeo de Desarrollo Regional  (RCT-2015-3386-1) La Doctora Mercè Pérez as PI.

 

 

 

Genética Molecular Humana. Finançat per la Generalitat de Catalunya AGAUR: (2009 SGR 1490). (2010-2015). La Doctora Mercè Pérez com a Investigadora Associada.

 

EURO-WABB: An EU rare diseases registry for Wolfram syndrome, Alstrom syndrome and Bardet Biedl syndrome. Finançat per la Unió Europea (Projecte Timothy Barret). (2011-2013). La Dra. Virginia Nunes IP del subprojecte Espanyol.

 

Bases moleculares de la reabsorción renal de aminoácidos:genética y modelos animales de ratón. Finançat per el Ministerio de Ciencia e Innovación.( SAF2009-12606-CO2-02). (2010-2013). La Dra. Virginia Nunes  com a IP.

 

Identificación de moléculas miméticas de RCAN en la inhibición de la señalización específica de calcineurina-NFAT para su uso potencial en daño cerebral agudo y enfermedades neurodegenerativas. (OPI amb l´ empresa BIOMAR al CENIT DENDRIA). Finançat per el MICINN. (2010-2013). La Doctora Mercè Pérez com a IP.

 

Regulación post-transcripcional de la activación endotelial proinflamatoria. Implicaciones diagnósticas y terapéuticas en patología vascular (FIS PI10/1073). (2010-2013). El Dr. Josep Arán com a IP.

 

Suport a Grups de Recerca. Finançat per el Departament d'Universitats, Recerca i Societat de la Informació (Generalitat de Catalunya) DURSI.( SGR 2009-1490).(2009-2013).  La Dra. Virginia Nunes  com a IP.

 

Identificación de los genes responsables del Fenotipo CF-Like mediante secuenciación del exoma. Finançat per les Beques Pablo Motos. (2011-2012).  La Dra. Teresa Casals com a IP.

 

La regulación de la expresión del RNA en las alteraciones severas de la meiosis: análisis del estado de metilación del DNA y del perfil de expresión de los miRNAs testiculares. Finançat per l´ Instituto de Salud Carlos III (FIS PI09/1727). (2010-2012).  La Dra. Sara Larriba com a IP.

 

Structure and RCAN3 regulatory mechanisms (regulator of calcineurin 3 proteins): implications for immune response. Finançat per el Ministerio de Ciencia e Innovación: (SAF009-08216). (2010-2012).  La Doctora Mercè Pérez com a IP.

 

Animal Models of megalencephalic leukoencephalopathy. Finançat per la ELA Research Foundation.( ELA 2009-017C4).(2009-2012). La Dra. Virginia Nunes  com a IP.

 

Síndrome de Wolfram:Creación de un registro de pacientes y generación de modelos celulares de neurona. Finançat per  el Consorci CIBER de l'àrea de Malalties Rares (CIBERER).(2010-2011). La Dra. Virginia Nunes  com a IP.

 

Generación y caracterización de ratones knock out para los transpertadores Mcl8 y Lat2, com a modelo del síndrome de Allan-Herdon-Dudley.  Finançat per  el Consorci CIBER de l'àrea de Malalties Rares (CIBERER). (INTRA/10/108.1). (2010-2011). La Dra. Virginia Nunes  com a IP.

 

Expresión de mutaciones CFTR responsables de splicing aberrante. Caracterización de transcritos y localización de la proteína en células de epitelio nasal de pacientes con fibrosis quística y controles. Finançat per la Fundació Siro Carrasco. (2009-2011). La Dra. Teresa Casals com a IP.

 

The CFTR2 project: Genotype-Phenotype correlation. Financiada per la Johns Hopkins University and CF Society.  (2009-2011).  El Dr. Garry Cutting com a IP.

 

Expresión de mutaciones CFTR responsables de splicing aberrante. Caracterización de transcritos y localización de la proteína en células de epitelio nasal de pacientes con fibrosis quística y controles. Finançat per l´ Instituto de Salud Carlos III (PI080041). (2009-2011). La Dra. Teresa Casals com a IP.

imatge personal
 

Group leader

Virginia Nunes
Telephone  
+34 932607406
E-mail  
vnunes@idibell.cat
 
© 2017 Institut d'Investigació Biomèdica de Bellvitge



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