vnunes@idibell.cat
Identification code
NUNES MARTINEZ, VIRGINIA
iMarina ID: 04-270057Genes, Disease and Therapy Program. Institut d'Investigació Biomèdica de Bellvitge.
Human Molecular Genetics. Institut d'Investigació Biomèdica de Bellvitge.
Traslational Medicine. Institut d'Investigació Biomèdica de Bellvitge.
Timeline
May of 1988
PhD: El Empleo de las Técnicas de ADN Recombinante en el Estudio de las Hemofilias A y B.
Universidad Autónoma de Barcelona
Timeline
July of 2016
Program Coordinator
Institut d'Investigació Biomèdica de Bellvitge. Genes, Disease and Therapy Program
2016 -
January of 2001
Investigadora Senior /Cap de Departament CGMM. IRO - IDIBELL
IRO - IDIBELL
2001 -
January of 1999
Group leader
Institut d'Investigació Biomèdica de Bellvitge. Human Molecular Genetics
1999 -
January of 1990
Investigadora senior. IRO
IRO
1990 -
January of 1985
Investigadora senior. FISP Hospital de Sant Pau
FISP Hospital de Sant Pau
1985 -
January of 1985
Stagiaire. Inserm U91 Créteil (Francia)
Inserm U91 Créteil (Francia)
1985 -
January of 1983
Becaria Investigación. Hospital de Sant Pau
Hospital de Sant Pau
1983 -
January of 1980
Becaria Servicio Hematologia. Hospital de Sant Pau
Hospital de Sant Pau
1980 -
Scholastic Acknowledgment
Transfer
Research Acknowledgment
Altmetrics
| 2021 | Treatment of Hepatic Fibrosis in Mice Based on Targeted Plasmonic Hyperthermia | |
| 2020 | Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencep... | |
| 2020 | Choroid plexus LAT2 and SNAT3 as partners in CSF amino acid homeostasis maintena... | |
| 2019 | Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse a... | |
| 2019 | Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopat... | |
| 2019 | Differences in expression rather than methylation at placenta-specific imprinted... | |
| 2018 | Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption... | |
| 2018 | Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemic... | |
| 2018 | Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene invo... | |
| 2018 | GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications ... | |
| 2017 | Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 ... | |
| 2017 | Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and ... | |
| 2016 | Novel cystine transporter in renal proximal tubule identified as a missing partn... | |
| 2015 | Identification of small-molecule inhibitors of calcineurin-NFATc signaling that ... | |
| 2015 | Digenic inheritance in cystinuria mouse model | |
| 2014 | Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase)... | |
| 2014 | Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails gl... | |
| 2014 | Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppr... | |
| 2013 | Differential cystine and dibasic amino acid handling after loss of function of t... | |
| 2013 | EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome a... | |
| 2013 | Genotypic classification of patients with Wolfram syndrome: insights into the na... | |
| 2012 | Cystinuria | |
| 2012 | BootstRatio: A web-based statistical analysis of fold-change in qPCR and RT-qPCR... | |
| 2012 | EURO-WABB: a European rare disease database for Wolfram, Alstroem, Bardet-Biedl ... | |
| 2012 | Clinical utility gene card for: Cystinuria | |
| 2011 | Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cyst... | |
| 2011 | Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease c... | |
| 2011 | Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoence... | |
| 2010 | Metabonomics and population studies: age-related amino acids excretion and infer... | |
| 2010 | Pathophysiology and treatment of cystinuria | |
| 2009 | Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients invo... | |
| 2008 | Genetic and genomic analysis modeling of germline c-MYC overexpression and cance... | |
| 2008 | Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical c... | |
| 2008 | Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes ... | |
| 2007 | Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacologic... | |
| 2007 | Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: A possible s... | |
| 2006 | Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopat... | |
| 2005 | Gene symbol: SLC3A1 | |
| 2005 | The genetics of heteromeric amino acid transporters | |
| 2005 | Mitochondrial respiratory chain in brain homogenates: activities in different br... | |
| 2005 | New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, ... | |
| 2005 | Expression of mitochondrial genes and transcription estimation in different brai... | |
| 2005 | Tissue imprints or primary cultures - Which strategy to use to study cytogenetic... | |
| 2004 | First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 ... | |
| 2004 | The amino acid transporter asc-1 is not involved in cystinuria | |
| 2004 | Thiol Modification of Cysteine 327 in the Eighth Transmembrane Domain of the Lig... | |
| 2004 | Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) ge... | |
| 2004 | Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome familie... | |
| 2003 | Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis | |
| 2003 | The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the develop... | |
| 2003 | Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway ep... | |
| 2002 | Quantitative assessment of chimeraplast stability in biological fluids by polyac... | |
| 2002 | Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts i... | |
| 2002 | Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: A need fo... | |
| 2001 | Cystinuria type I: Identification of eight new mutations in SLC3A1 | |
| 2001 | ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intest... | |
| 2001 | Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation i... | |
| 2001 | Presence of a major WFS1 mutation in Spanish Wolfram Syndrome pedigrees | |
| 2001 | Is there a relation between Alzheimer's disease and defects of mitochondrial DNA... | |
| 2001 | Analysis of mtDNA point mutations A3243G, C3256T and mtDNA deletions in 41 diabe... | |
| 2000 | Respiratory chain dysfunction associated with multiple mitochondrial DNA deletio... | |
| 2000 | Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescen... | |
| 1999 | Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intoleran... | |
| 1999 | Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)A... | |
| 1999 | Absence of mitochondrial dysfunction in polymyalgia rheumatica. Evidence based o... | |
| 1999 | Recombinant families locate the gene for non-type I cystinuria between markers C... | |
| 1998 | Testicular CFTR splice variants in patients with congenital absence of the vas d... | |
| 1998 | Biochemical and molecular effects of chronic haloperidol administration on brain... | |
| 1998 | Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosi... | |
| 1997 | Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with ... | |
| 1997 | Preliminary report - Respiratory chain activity and mitochondrial DNA content of... | |
| 1997 | Missense mutation R1066C in the second transmembrane domain of CFTR causes a sev... | |
| 1997 | Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA... | |
| 1997 | High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account... | |
| 1996 | Molecular analysis of the cystinuria disease gene: Identification of four new mu... | |
| 1996 | The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients wit... | |
| 1996 | Genomic structure and organization of the human rBAT gene (SLC3A1) | |
| 1996 | A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA de... | |
| 1996 | Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population | |
| 1996 | The rBAT gene is responsible for L-cystine uptake via the b0,+-like amino acid t... | |
| 1996 | The molecular basis of cystinuria: the role of the rBAT gene. | |
| 1995 | GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NO... | |
| 1995 | Mutations in the cystic fibrosis gene in patients with congenital absence of the... | |
| 1995 | CLINICAL CHARACTERISTICS OF 16 CYSTIC-FIBROSIS PATIENTS WITH THE MISSENSE MUTATI... | |
| 1995 | The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurre... | |
| 1995 | EXTENSIVE ANALYSIS OF 40 INFERTILE PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-D... | |
| 1995 | Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 a... | |
| 1994 | A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: D... | |
| 1994 | Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish... | |
| 1994 | ANALYSIS OF THE CFTR GENE IN THE SPANISH POPULATION - SSCP-SCREENING FOR 60 KNOW... | |
| 1994 | CYSTIC-FIBROSIS IN A LOW-INCIDENCE POPULATION - 2 MAJOR MUTATIONS IN FINLAND | |
| 1994 | THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULA... | |
| 1994 | MULTIPLE DELETIONS OF MTDNA IN 2 BROTHERS WITH SIDEROBLASTIC ANEMIA AND MITOCHON... | |
| 1994 | CYSTINURIA CAUSED BY MUTATIONS IN RBAT, A GENE INVOLVED IN THE TRANSPORT OF CYST... | |
| 1993 | IDENTIFICATION OF A 31-BP INSERTION (3860INS31) IN EXON-20 OF THE CYSTIC-FIBROSI... | |
| 1993 | MICROSATELLITE HAPLOTYPES FOR CYSTIC-FIBROSIS - MUTATION FRAMEWORKS AND EVOLUTIO... | |
| 1993 | A NEW MISSENSE MUTATION (E92K) IN THE 1ST TRANSMEMBRANE DOMAIN OF THE CFTR GENE ... | |
| 1993 | IDENTIFICATION OF A NEW MISSENSE MUTATION (P205S) IN THE 1ST TRANSMEMBRANE DOMAI... | |
| 1993 | Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (C... | |
| 1993 | Haplotype analysis to determine the position of a mutation among closely linked ... | |
| 1993 | Isolation and Characterization of 14 CA-Repeat Microsatellites from Human Chromo... | |
| 1993 | Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean ... | |
| 1993 | Detection of human papillomavirus 16 and 18 DNA in epithelial lesions of the low... | |
| 1992 | A RARE DNA VARIANT IN EXON-15 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE R... | |
| 1992 | Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis tr... | |
| 1992 | Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene hav... | |
| 1992 | Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene ... | |
| 1991 | Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (C... | |
| 1991 | CA GT Microsatellite alleles within the cystic fibrosis transmembrane conductanc... | |
| 1991 | Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsate... | |
| 1991 | Analysis of 14 cystic fibrosis mutations in five South European populations | |
| 1991 | Genetic analysis of cystic fibrosis | |
| 1991 | HIGH CONSERVATION OF SEQUENCES INVOLVED IN CYSTIC-FIBROSIS MUTATIONS IN 5 MAMMAL... | |
| 1991 | MUTATION AND LINKAGE DISEQUILIBRIUM ANALYSIS IN GENETIC-COUNSELING OF SPANISH CY... | |
| 1991 | PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS BY SIMULTANEOUS ANALYSIS OF 2 DIFFERENT MU... | |
| 1991 | The search for South European cystic fibrosis mutations: Identification of two n... | |
| 1991 | SSCP-polymorphism in intron 12 of the CFTR gene recognized by bcll | |
| 1990 | The genotype of a new linked DNA marker, MP6d-9, is related to the clinical cour... | |
| 1990 | ? F508 gene deletion and prenatal diagnosis of cystic fibrosis in Italian and Sp... | |
| 1990 | Mutation Analysis in Cystic Fibrosis | |
| 1990 | A polymorphic DNA probe from chromosome 7 (7q22) | |
| 1990 | PCR detection of the pKM.19/Scrfl RFLP (D7S23), a marker closely linked to the c... | |
| 1990 | Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families | |
| 1990 | Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19)... | |
| 1989 | Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis l... | |
| 1989 | LINKAGE DISEQUILIBRIUM FOR DNA HAPLOTYPES NEAR THE CYSTIC-FIBROSIS LOCUS IN 2 SO... | |
| 1989 | ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE |
Research Fields
Temáticas
I+D+I Projects
Participation and project management
IP
NOT IP
Research Group
Subject / Course
Teaching activity
Directed Thesis
19
Headquarters
Universitat Autònoma de Barcelona
Fundació Puigvert
Hospital Universitario de Son Dureta
Universitat de Barcelona
Collaboration Network
