Search Results - (Author, Cooperation:D. Torrents)

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  1. 1
    X. S. Puente ; S. Bea ; R. Valdes-Mas ; N. Villamor ; J. Gutierrez-Abril ; J. I. Martin-Subero ; M. Munar ; C. Rubio-Perez ; P. Jares ; M. Aymerich ; T. Baumann ; R. Beekman ; L. Belver ; A. Carrio ; G. Castellano ; G. Clot ; E. Colado ; D. Colomer ; D. Costa ; J. Delgado ; A. Enjuanes ; X. Estivill ; A. A. Ferrando ; J. L. Gelpi ; B. Gonzalez ; S. Gonzalez ; M. Gonzalez ; M. Gut ; J. M. Hernandez-Rivas ; M. Lopez-Guerra ; D. Martin-Garcia ; A. Navarro ; P. Nicolas ; M. Orozco ; A. R. Payer ; M. Pinyol ; D. G. Pisano ; D. A. Puente ; A. C. Queiros ; V. Quesada ; C. M. Romeo-Casabona ; C. Royo ; R. Royo ; M. Rozman ; N. Russinol ; I. Salaverria ; K. Stamatopoulos ; H. G. Stunnenberg ; D. Tamborero ; M. J. Terol ; A. Valencia ; N. Lopez-Bigas ; D. Torrents ; I. Gut ; A. Lopez-Guillermo ; C. Lopez-Otin ; E. Campo
    Nature Publishing Group (NPG)
    Published 2015
    Staff View
    Publication Date:
    2015-07-23
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    3' Untranslated Regions/genetics ; Alternative Splicing/genetics ; B-Cell-Specific Activator Protein/biosynthesis/genetics ; B-Lymphocytes/metabolism ; Carrier Proteins/genetics ; Chromosomes, Human, Pair 9/genetics ; DNA Mutational Analysis ; DNA, Neoplasm/genetics ; Enhancer Elements, Genetic/genetics ; Genomics ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/metabolism/pathology ; Mutation/*genetics ; Nerve Tissue Proteins/genetics ; Nuclear Proteins/genetics ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Receptor, Notch1/genetics/metabolism ; Transcription Factors/genetics
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  2. 2
    M. Arumugam ; J. Raes ; E. Pelletier ; D. Le Paslier ; T. Yamada ; D. R. Mende ; G. R. Fernandes ; J. Tap ; T. Bruls ; J. M. Batto ; M. Bertalan ; N. Borruel ; F. Casellas ; L. Fernandez ; L. Gautier ; T. Hansen ; M. Hattori ; T. Hayashi ; M. Kleerebezem ; K. Kurokawa ; M. Leclerc ; F. Levenez ; C. Manichanh ; H. B. Nielsen ; T. Nielsen ; N. Pons ; J. Poulain ; J. Qin ; T. Sicheritz-Ponten ; S. Tims ; D. Torrents ; E. Ugarte ; E. G. Zoetendal ; J. Wang ; F. Guarner ; O. Pedersen ; W. M. de Vos ; S. Brunak ; J. Dore ; M. Antolin ; F. Artiguenave ; H. M. Blottiere ; M. Almeida ; C. Brechot ; C. Cara ; C. Chervaux ; A. Cultrone ; C. Delorme ; G. Denariaz ; R. Dervyn ; K. U. Foerstner ; C. Friss ; M. van de Guchte ; E. Guedon ; F. Haimet ; W. Huber ; J. van Hylckama-Vlieg ; A. Jamet ; C. Juste ; G. Kaci ; J. Knol ; O. Lakhdari ; S. Layec ; K. Le Roux ; E. Maguin ; A. Merieux ; R. Melo Minardi ; C. M'Rini ; J. Muller ; R. Oozeer ; J. Parkhill ; P. Renault ; M. Rescigno ; N. Sanchez ; S. Sunagawa ; A. Torrejon ; K. Turner ; G. Vandemeulebrouck ; E. Varela ; Y. Winogradsky ; G. Zeller ; J. Weissenbach ; S. D. Ehrlich ; P. Bork
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-04-22
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Bacteria/*classification/genetics ; Bacterial Typing Techniques ; Biodiversity ; Biomarkers/analysis ; Europe ; Feces/microbiology ; Female ; Humans ; Intestines/*microbiology ; Male ; *Metagenome ; Metagenomics ; Phylogeny
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  3. 3
    X. S. Puente ; M. Pinyol ; V. Quesada ; L. Conde ; G. R. Ordonez ; N. Villamor ; G. Escaramis ; P. Jares ; S. Bea ; M. Gonzalez-Diaz ; L. Bassaganyas ; T. Baumann ; M. Juan ; M. Lopez-Guerra ; D. Colomer ; J. M. Tubio ; C. Lopez ; A. Navarro ; C. Tornador ; M. Aymerich ; M. Rozman ; J. M. Hernandez ; D. A. Puente ; J. M. Freije ; G. Velasco ; A. Gutierrez-Fernandez ; D. Costa ; A. Carrio ; S. Guijarro ; A. Enjuanes ; L. Hernandez ; J. Yague ; P. Nicolas ; C. M. Romeo-Casabona ; H. Himmelbauer ; E. Castillo ; J. C. Dohm ; S. de Sanjose ; M. A. Piris ; E. de Alava ; J. San Miguel ; R. Royo ; J. L. Gelpi ; D. Torrents ; M. Orozco ; D. G. Pisano ; A. Valencia ; R. Guigo ; M. Bayes ; S. Heath ; M. Gut ; P. Klatt ; J. Marshall ; K. Raine ; L. A. Stebbings ; P. A. Futreal ; M. R. Stratton ; P. J. Campbell ; I. Gut ; A. Lopez-Guillermo ; X. Estivill ; E. Montserrat ; C. Lopez-Otin ; E. Campo
    Nature Publishing Group (NPG)
    Published 2011
    Staff View
    Publication Date:
    2011-06-07
    Publisher:
    Nature Publishing Group (NPG)
    Print ISSN:
    0028-0836
    Electronic ISSN:
    1476-4687
    Topics:
    Biology
    Chemistry and Pharmacology
    Medicine
    Natural Sciences in General
    Physics
    Keywords:
    Amino Acid Sequence ; Animals ; Carrier Proteins/genetics ; DNA Mutational Analysis ; Genome, Human/*genetics ; Humans ; Karyopherins/genetics ; Leukemia, Lymphocytic, Chronic, B-Cell/*genetics ; Molecular Sequence Data ; Mutation/*genetics ; Myeloid Differentiation Factor 88/chemistry/genetics ; Receptor, Notch1/genetics ; Receptors, Cytoplasmic and Nuclear/genetics ; Reproducibility of Results
    Published by:
    http://www.nature.com/

    Latest Papers from Table of Contents or Articles in Press
  4. 4
    Staff View
    ISSN:
    1438-2199
    Keywords:
    rBAT ; SLC3A1 gene ; Cystinuria ; System b0,+-like
    Source:
    Springer Online Journal Archives 1860-2000
    Topics:
    Medicine
    Notes:
    Summary The cDNAs of mammalian amino acid transporters already identified could be grouped into four families. One of these protein families is composed of the protein rBAT and the heavy chain of the cell surface antigen 4F2 (4F2hc). The cRNAs of rBAT and 4F2hc induce amino acid transport activity via systems b0,+ -like and y+L -like inXenopus oocytes respectively. Surprisingly, neither rBAT nor 4F2hc is very hydrophobic, and they seem to be unable to form a pore in the plasma membrane. This prompted the hypothesis that rBAT and 4F2hc are subunits or modulators of the corresponding amino acid transporters. The association of rBAT with a light subunit of ~40kDa has been suggested, and such an association has been demonstrated for 4F2hc. The b0,+-like system expressed in oocytes by rBAT cRNA transports L-cystine, L-dibasic and L-neutral amino acids with high-affinity. This transport system shows exchange of amino acids through the plasma membrane ofXenopus oocytes, suggesting a tertiary active transport mechanism. The rBAT gene is mainly expressed in the outer stripe of the outer medulla of the kidney and in the mucosa of the small intestine. The protein localizes to the microvilli of the proximal straight tubules (S3 segment) of the nephron and the mucosa of the small intestine. All this suggested the participation of rBAT in a high-affinity reabsorption system of cystine and dibasic amino acids in kidney and intestine, and indicated rBAT (named SLC3A1 in Gene Data Bank) as a good candidate gene for cystinuria. This is an inherited aminoaciduria due to defective renal and intestinal reabsorption of cystine and dibasic amino acids. The poor solubility of cystine causes the formation of renal cystine calculi. Mutational analysis of the rBAT gene of patients with cystinuria is revealing a growing number (~20) of cystinuria-specific mutations, including missense, nonsense, deletions and insertions. Mutations M467T (substitution of methionine 467 residue for threonine) and R270X (stop codon at arginine residue 270) represent approximately half of the cystinuric chromosomes where mutations have been found. Mutation M467T reduces transport activity of rBAT in oocytes. All this demonstrates that mutations in the rBAT gene cause cystinuria. Three types of cystinuria (types, I, II and III) have been described on the basis of the genetic, biochemical and clinical manifestations of the disease. Type I cystinuria has a complete recessive inheritance; type I heterozygotes are totally silent. In contrast, type II and III heterozygotes show, respectively, high or moderate hyperaminoaciduria of cystine and dibasic amino acids. Type III homozygotes show moderate, if any, alteration of intestinal absorption of cystine and dibasic amino acids; type II homozygotes clearly show defective intestinal absorption of these amino acids. To date, all the rBAT cystinuria-specific mutations we have found are associated with type I cystinuria (~70% of the chromosomes studied) but not to types II or III. This strongly suggests genetic heterogeneity for cystinuria. Genetic linkage analysis with markers of the genomic region of rBAT in chromosome 2 (G band 2p16.3) and intragenic markers of rBAT have demonstrated genetic heterogeneity for cystinuria; the rBAT gene is linked to type I cystinuria, but not to type III. Biochemical, genetic and clinical studies are needed to identify the additional cystinuria genes; a low-affinity cystine reabsortion system and the putative light subunit of rBAT are additional candidate genes for cystinuria.
    Type of Medium:
    Electronic Resource
    URL:
    http://dx.doi.org/10.1007/BF00813862

    Articles: DFG German National Licenses