Search Results - "Colobran, R"

Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene by Pujol-Borrell, R, Giménez-Barcons, M, Marín-Sánchez, A, Colobran, R

“…As most autoimmune diseases, inherited predisposition to Graves' disease (GD) is polygenic with the main contributory genes being located in the HLA region…”
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Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub‐Saharan Africa: implications for the susceptibility to meningococcal disease by Franco‐Jarava, C., Comas, D., Orren, A., Hernández‐González, M., Colobran, R.

“…Summary Complement C5 deficiency (C5D) is a rare primary immunodeficiency associated with recurrent infections, particularly meningitis, by Neisseria species…”
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The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype by Arcas‐García, A., Garcia‐Prat, M., Magallón‐Lorenz, M., Martín‐Nalda, A., Drechsel, O., Ossowski, S., Alonso, L., Rivière, J. G., Soler‐Palacín, P., Colobran, R., Sayós, J., Martínez‐Gallo, M., Franco‐Jarava, C.

“…Summary In addition to their detection in typical X‐linked severe combined immunodeficiency, hypomorphic mutations in the interleukin (IL)‐2 receptor common…”
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Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease by Colobran, R, Pedrosa, E, Carretero-Iglesia, L, Juan, M

“…Genome copy number changes (copy number variations: CNVs) include inherited, de novo and somatically acquired deviations from a diploid state within a…”
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The chemokine network. I. How the genomic organization of chemokines contains clues for deciphering their functional complexity by Colobran, R., Pujol‐Borrell, R., Armengol, Ma P., Juan, M.

“…Summary Chemokines are a superfamily of small structurally related cytokines that have evolved to form a complex network of proteins that typically regulate…”
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chemokine network. II. On how polymorphisms and alternative splicing increase the number of molecular species and configure intricate patterns of disease susceptibility by Colobran, R, Pujol-Borrell, R, Armengol, M.P, Juan, M

“…In this second review on chemokines, we focus on the polymorphisms and alternative splicings and on their consequences in disease. Because chemokines are key…”
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Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection by Alsina, L, Colobran, R, de Sevilla, M.F, Català, A, Viñas, L, Ricart, S, Plaza, A.M, Lois, S, Juan, M, Pujol-Borrell, R, Martinez-Gallo, M

“…Abstract Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3) is a genetic disorder caused by mutations in UNC13D gene, coding the granule priming factor…”
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Copy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantation by Colobran, R, Casamitjana, N, Roman, A, Faner, R, Pedrosa, E, Arostegui, J I, Pujol-Borrell, R, Juan, M, Palou, E

“…Lung transplantation (LT) has become an accepted therapy for selected patients with advanced lung disease. One of the main limitations to successful LT is…”
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Population structure in copy number variation and SNPs in the CCL4L chemokine gene by Colobran, R, Comas, D, Faner, R, Pedrosa, E, Anglada, R, Pujol-Borrell, R, Bertranpetit, J, Juan, M

“…The recent description of a large amount of copy number variation (CNV) in the human genome has extended the concept of genome diversity. In this study we…”
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Genome-wide detection of human variants that disrupt intronic branchpoints by Zhang, Peng, Philippot, Quentin, Ren, Weicheng, Lei, Wei-Te, Li, Juan, Stenson, Peter D, Palacín, Pere Soler, Colobran, Roger, Boisson, Bertrand, Zhang, Shen-Ying, Puel, Anne, Pan-Hammarström, Qiang, Zhang, Qian, Cooper, David N, Abel, Laurent, Casanova, Jean-Laurent

“…Pre-messenger RNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within a BP motif by spliceosome elements…”
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Activation-induced deaminase is critical for the establishment of DNA methylation patterns prior to the germinal center reaction by Català-Moll, Francesc, Ferreté-Bonastre, Anna G, Li, Tianlu, Weichenhan, Dieter, Lutsik, Pavlo, Ciudad, Laura, Álvarez-Prado, Ángel F, Rodríguez-Ubreva, Javier, Klemann, Christian, Speckmann, Carsten, Vilas-Zornoza, Amaya, Abolhassani, Hassan, Martínez-Gallo, Mónica, Dieli-Crimi, Romina, Rivière, Jacques G, Martín-Nalda, Andrea, Colobran, Roger, Soler-Palacín, Pere, Kracker, Sven, Hammarström, Lennart, Prosper, Felipe, Durandy, Anne, Grimbacher, Bodo, Plass, Christoph, Ballestar, Esteban

“…Abstract Activation-induced deaminase (AID) initiates antibody diversification in germinal center B cells by deaminating cytosines, leading to somatic…”
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Islet transplantation in seminal vesicles restores glycemia in diabetic rats: a preliminary study by Luna, A, Julián, J.F, Alba, A, Colobran, R, Garcia-Cuyàs, F, Fernández-Figueras, M.T, Broggi, M.A, Llamazares, J.F, Pujol-Borrell, R, Vives-Pi, M

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Type 1 Diabetes and Graves’ disease transcriptomic analysis show common contributing disease pathways by Ruiz, M., Planas, R., Colobran, R., Marín, A., Vives, M., Pujol-Borrell, R.

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Multiple Products Derived from Two CCL4 Loci: High Incidence of a New Polymorphism in HIV+ Patients by Colobran, Roger, Adreani, Patricia, Ashhab, Yaqoub, Llano, Anuska, Este, Jose A, Dominguez, Orlando, Pujol-Borrell, Ricardo, Juan, Manel

“…Human CCL4/macrophage inflammatory protein (MIP)-1beta and CCL3/MIP-1alpha are two highly related molecules that belong to a cluster of inflammatory CC…”
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CCL4L polymorphisms and serum levels are associated with psoriasis severity by Pedrosa, E, Carretero-Iglesia, L, Boada, A, Colobran, R, Pujol-Autonell, I, Pujol-Borrell, R, Ferrándiz, C, Juan, M, Carrascosa, J M

“…From: 5th European Workshop on Immune-Mediated Inflammatory Diseases Sitges-Barcelona, Spain 1-3 December 2010 Author details 1-Laboratory of Immunobiology for…”
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Detection of Interferon Signature, Plasmacytoid Dendritic Cells (pDCs) and Alternatively Activated Macrophages (AAM) in Graves' Disease Thyroid as Chronicity Factors by Ruiz-Riol, M, Armengol-Barnils, M P, Lucas-Martin, A, Colobran, R, Borras, F E, Borrell, R P

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Gene Expression Analysis by Microarrays of Short Course and Long Course Graves' Disease Thyroid Glands, an Insight into the Perpetuating Mechanisms by Armengol, M P, Ruiz, M, Colobran, R, Fernandez, MA, Lidia, S, Martin, AL, Coll-Daroca, J, Martinez-Caceres, E M, Juan, M, Borrell, R P

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IMPAIRED CYTOTOXIC LYMPHOCYTE DEGRANULATION IN A PATIENT WITH LANGERHANS CELL HISTIOCYTOSIS COMPLICATED BY A HEMOPHAGOCYTIC SYNDROME by Salzmann, TC, Garcia, LA, Celis, V, Martinez, OC, Jou, C, DeTorres, C, Graupera, JM, Rodriguez-Galindo, C, Astigarraga, I, Alsina, L, Perez-Martinez, A, Martinez-Gallo, M, Colobran, R, Chiang, S, Schlums, H, Entesarian, M, Henter, JI, Bryceson, Y

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HLA-B27 genotyping by Fluorescent Resonance Emission Transfer (FRET) probes in real-time PCR by Faner, Rosa, Casamitjana, Natàlia, Colobran, Roger, Ribera, Anna, Pujol-Borrell, Ricardo, Palou, Eduard, Juan, Manel

“…Several polymerase chain reaction (PCR)-based human leukocyte antigen (HLA) genotyping methods are in use, but none is fully satisfactory. The introduction of…”
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Development of a new HLA-DRB real-time PCR typing method by Casamitjana, Natàlia, Faner, Rosa, Santamaria, Albert, Colobran, Roger, Ribera, Anna, Pujol-Borrell, Ricardo, Juan, Manel, Palou, Eduard

“…Polymerase chain reaction (PCR)-based human leukocyte antigen (HLA) typing methods currently used in most histocompatibility laboratories, such as…”
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