Institut d'Investigació Biomèdica de Bellvitge IDIBELL
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vnunes@idibell.cat
Identification code

NUNES MARTINEZ, VIRGINIA

iMarina ID: 04-270057
Genes, 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.

Academic training

  • Timeline
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

Career

  • Timeline
  • Scholastic Acknowledgment
  • Transfer
  • Research Acknowledgment
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

Transfer and social impact

  • Almetrics publications
  • Fuente de impacto, otros
Almetrics publications
2020Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencep...
2020Choroid plexus LAT2 and SNAT3 as partners in CSF amino acid homeostasis maintena...
2019Dysfunctional LAT2 amino acid transporter is associated with cataract in mouse a...
2019Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopat...
2019Differences in expression rather than methylation at placenta-specific imprinted...
2018Cooperation of Antiporter LAT2/CD98hc with Uniporter TAT1 for Renal Reabsorption...
2018Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemic...
2018Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene invo...
2018GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications ...
2017Depolarization causes the formation of a ternary complex between GlialCAM, MLC1 ...
2017Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram and ...
2016Novel cystine transporter in renal proximal tubule identified as a missing partn...
2015Identification of small-molecule inhibitors of calcineurin-NFATc signaling that ...
2015Digenic inheritance in cystinuria mouse model
2014Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase)...
2014Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates g...
2014Disrupting MLC1 and GlialCAM and ClC-2 interactions in leukodystrophy entails gl...
2014Cerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppr...
2013Differential cystine and dibasic amino acid handling after loss of function of t...
2013EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alstrom syndrome a...
2013Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for prope...
2013Genotypic classification of patients with Wolfram syndrome: insights into the na...
2013Protein kinase CK2-dependent phosphorylation of the human Regulators of NFATc si...
2012GlialCAM, a Protein Defective in a Leukodystrophy, Serves as a CIC-2 Cl- Channel...
2012Cystinuria
2012BootstRatio: A web-based statistical analysis of fold-change in qPCR and RT-qPCR...
2012EURO-WABB: a European rare disease database for Wolfram, Alstroem, Bardet-Biedl ...
2012Clinical utility gene card for: Cystinuria
2011Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cyst...
2011Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease c...
2011Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoence...
2010Metabonomics and population studies: age-related amino acids excretion and infer...
2010Pathophysiology and treatment of cystinuria
2009Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients invo...
2008Genetic and genomic analysis modeling of germline c-MYC overexpression and cance...
2008Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical c...
2008Altered expression of 12S/MT-RNR1, MT-CO2/COX2, and MT-ATP6 mitochondrial genes ...
2007Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacologic...
2007Aneuploidy of chromosome Y in prostate tumors and seminal vesicles: A possible s...
2006Identification of somatic and germline mitochondrial DNA sequence variants in pr...
2006Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopat...
2005Gene symbol: SLC3A1
2005The genetics of heteromeric amino acid transporters
2005Mitochondrial respiratory chain in brain homogenates: activities in different br...
2005New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, ...
2005Expression of mitochondrial genes and transcription estimation in different brai...
2005Tissue imprints or primary cultures - Which strategy to use to study cytogenetic...
2004First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 ...
2004The amino acid transporter asc-1 is not involved in cystinuria
2004Thiol Modification of Cysteine 327 in the Eighth Transmembrane Domain of the Lig...
2004Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) ge...
2004Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome familie...
2003Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis
2003Short communication: reversible mitochondrial respiratory chain impairment durin...
2003The WFS1 (Wolfram syndrome 1) is not a major susceptibility gene for the develop...
2003Suitability of oligonucleotide-mediated cystic fibrosis gene repair in airway ep...
2002Quantitative assessment of chimeraplast stability in biological fluids by polyac...
2002Non-viral vector-mediated uptake, distribution, and stability of chimeraplasts i...
2002Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: A need fo...
2002WFS1 mutations in Spanish patients with diabetes mellitus and deafness
2001Cystinuria type I: Identification of eight new mutations in SLC3A1
2001Is mitochondrial DNA depletion involved in Alzheimer''s disease?
2001ATB0/SLC1A5 gene. Fine localisation and exclusion of association with the intest...
2001Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation i...
2001Presence of a major WFS1 mutation in Spanish Wolfram Syndrome pedigrees
2001Is there a relation between Alzheimer's disease and defects of mitochondrial DNA...
2001Analysis of mtDNA point mutations A3243G, C3256T and mtDNA deletions in 41 diabe...
2001Mitochondrial involvement in antiretroviral therapy-related lipodystrophy
2000Respiratory chain dysfunction associated with multiple mitochondrial DNA deletio...
2000Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescen...
1999Identification of SLC7A7, encoding y(+)LAT-1, as the lysinuric protein intoleran...
1999Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (b(o,+)A...
1999Absence of mitochondrial dysfunction in polymyalgia rheumatica. Evidence based o...
1999Recombinant families locate the gene for non-type I cystinuria between markers C...
1998Testicular CFTR splice variants in patients with congenital absence of the vas d...
1998Biochemical and molecular effects of chronic haloperidol administration on brain...
1998Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosi...
1997Sporadic heteroplasmic single 5.5 Kb mitochondrial DNA deletion associated with ...
1997Preliminary report - Respiratory chain activity and mitochondrial DNA content of...
1997Qualitative and quantitative changes in skeletal muscle mtDNA and expression of ...
1997Missense mutation R1066C in the second transmembrane domain of CFTR causes a sev...
1997Reduced steady-state levels of mitochondrial RNA and increased mitochondrial DNA...
1997High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account...
1996Molecular analysis of the cystinuria disease gene: Identification of four new mu...
1996The effect of zidovudine on skeletal muscle mtDNA in HIV-1 infected patients wit...
1996Genomic structure and organization of the human rBAT gene (SLC3A1)
1996A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA de...
1996Prenatal diagnosis of cystic fibrosis in a highly heterogeneous population
1996The rBAT gene is responsible for L-cystine uptake via the b0,+-like amino acid t...
1996The molecular basis of cystinuria: the role of the rBAT gene.
1995GENETIC-HETEROGENEITY IN CYSTINURIA - THE SLC3A1 GENE IS LINKED TO TYPE-I BUT NO...
1995Mutations in the cystic fibrosis gene in patients with congenital absence of the...
1995CLINICAL CHARACTERISTICS OF 16 CYSTIC-FIBROSIS PATIENTS WITH THE MISSENSE MUTATI...
1995The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurre...
1995EXTENSIVE ANALYSIS OF 40 INFERTILE PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-D...
1995Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 a...
1994A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: D...
1994Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish...
1994ANALYSIS OF THE CFTR GENE IN THE SPANISH POPULATION - SSCP-SCREENING FOR 60 KNOW...
1994CYSTIC-FIBROSIS IN A LOW-INCIDENCE POPULATION - 2 MAJOR MUTATIONS IN FINLAND
1994THE ORIGIN OF THE MAJOR CYSTIC-FIBROSIS MUTATION (DELTA-F508) IN EUROPEAN POPULA...
1994MULTIPLE DELETIONS OF MTDNA IN 2 BROTHERS WITH SIDEROBLASTIC ANEMIA AND MITOCHON...
1994CYSTINURIA CAUSED BY MUTATIONS IN RBAT, A GENE INVOLVED IN THE TRANSPORT OF CYST...
1993IDENTIFICATION OF A 31-BP INSERTION (3860INS31) IN EXON-20 OF THE CYSTIC-FIBROSI...
1993MICROSATELLITE HAPLOTYPES FOR CYSTIC-FIBROSIS - MUTATION FRAMEWORKS AND EVOLUTIO...
1993A NEW MISSENSE MUTATION (E92K) IN THE 1ST TRANSMEMBRANE DOMAIN OF THE CFTR GENE ...
1993IDENTIFICATION OF A NEW MISSENSE MUTATION (P205S) IN THE 1ST TRANSMEMBRANE DOMAI...
1993Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (C...
1993Haplotype analysis to determine the position of a mutation among closely linked ...
1993Isolation and Characterization of 14 CA-Repeat Microsatellites from Human Chromo...
1993Cystic fibrosis in Spain: high frequency of mutation G542X in the Mediterranean ...
1993Detection of human papillomavirus 16 and 18 DNA in epithelial lesions of the low...
1992A RARE DNA VARIANT IN EXON-15 OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE R...
1992Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis tr...
1992Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene hav...
1992Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene ...
1991Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (C...
1991CA GT Microsatellite alleles within the cystic fibrosis transmembrane conductanc...
1991Prenatal diagnosis of cystic fibrosis by multiplex PCR of mutation and microsate...
1991Analysis of 14 cystic fibrosis mutations in five South European populations
1991Genetic analysis of cystic fibrosis
1991HIGH CONSERVATION OF SEQUENCES INVOLVED IN CYSTIC-FIBROSIS MUTATIONS IN 5 MAMMAL...
1991MUTATION AND LINKAGE DISEQUILIBRIUM ANALYSIS IN GENETIC-COUNSELING OF SPANISH CY...
1991PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS BY SIMULTANEOUS ANALYSIS OF 2 DIFFERENT MU...
1991The search for South European cystic fibrosis mutations: Identification of two n...
1991SSCP-polymorphism in intron 12 of the CFTR gene recognized by bcll
1990The 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...
1990Mutation Analysis in Cystic Fibrosis
1990A polymorphic DNA probe from chromosome 7 (7q22)
1990PCR detection of the pKM.19/Scrfl RFLP (D7S23), a marker closely linked to the c...
1990Distribution of the ΔF508 mutation in 194 Spanish cystic fibrosis families
1990Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19)...
1989Detection of a rare allele with the pMP6d-9/MspI RFLP near the cystic fibrosis l...
1989LINKAGE DISEQUILIBRIUM FOR DNA HAPLOTYPES NEAR THE CYSTIC-FIBROSIS LOCUS IN 2 SO...
1989ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE
Fuente de impacto, otros

Altmetrics

Publications on social networks: 4 / 21
Porcentaje:19.04%
Score:
29.95
Average Score:
29.95/21=1.426

Publications

  • Publications
  • Frequent topics
  • Visibility
  • Bibliometric indicators
Publications

Total Publications:231

211

Articles | Reviews

20

Books

Frequent topics
Temáticas
Visibility

Presence in databases


182
WOS (2021-02-24)
178
Scopus (2021-02-24)
165
Publons (2021-02-22)
106
Europe PMC(2021-02-25)
14
Dialnet(2021-02-17)
Bibliometric indicators

H index


45
WOS (2021-02-24)
45
Scopus (2021-02-24)
45
Publons (2021-02-22)
21
Europe PMC(2021-02-25)

Cites


6262
WOS (2021-02-24)
6454
Scopus (2021-02-24)
6182
Publons (2021-02-22)
13
Europe PMC (2021-02-25)

Percetage in Q1

Percetage in D1


Congresses

  • Congresses
  • País de la actividad
Congresses

Total Congress : 237

128

Poster

3

Ponent

100

com

6

Conferences

País de la actividad

Projects

  • Fulfilled projects
Fulfilled projects

Participation and project management

IP

NOT IP

Groups, Networks

  • Groups, Networks
Groups, Networks

Teaching

  • Subject / Course
  • Teaching activity
Subject / Course

Teaching activity

Directed Thesis


19

Headquarters


  • Universitat Autònoma de Barcelona


  • Fundació Puigvert


  • Hospital Universitario de Son Dureta


  • Universitat de Barcelona

Performance

  • Performance
Performance
Título:
Autores:
Afiliación:
Fuente:
Disciplina:
Palabras clave:
Indicios de calidad:
id ítem Tipo Año IF (JCR) IF (SJR)
id ítem Tipo Año IF(JCR) IF(SJR)

Collaboration

  • Institutional collaboration last 5 years
Institutional collaboration last 5 years
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