R Colobran
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Explore the profile of R Colobran including associated specialties, affiliations and a list of published articles.
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Articles
10
Citations
139
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0
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Recent Articles
1.
Arcas-Garcia A, Garcia-Prat M, Magallon-Lorenz M, Martin-Nalda A, Drechsel O, Ossowski S, et al.
Clin Exp Immunol
. 2019 Dec;
200(1):61-72.
PMID: 31799703
In addition to their detection in typical X-linked severe combined immunodeficiency, hypomorphic mutations in the interleukin (IL)-2 receptor common gamma chain gene (IL2RG) have been described in patients with atypical...
2.
Franco-Jarava C, Comas D, Orren A, Hernandez-Gonzalez M, Colobran R
Clin Exp Immunol
. 2017 Apr;
189(2):226-231.
PMID: 28369827
Complement C5 deficiency (C5D) is a rare primary immunodeficiency associated with recurrent infections, particularly meningitis, by Neisseria species. To date, studies to elucidate the molecular basis of hereditary C5D have...
3.
Pujol-Borrell R, Gimenez-Barcons M, Marin-Sanchez A, Colobran R
Horm Metab Res
. 2015 Sep;
47(10):753-66.
PMID: 26361261
As most autoimmune diseases, inherited predisposition to Graves' disease (GD) is polygenic with the main contributory genes being located in the HLA region. Also, as in other autoimmune diseases, family...
4.
Alsina L, Colobran R, de Sevilla M, Catala A, Vinas L, Ricart S, et al.
Clin Immunol
. 2014 May;
153(2):292-7.
PMID: 24825797
Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3) is a genetic disorder caused by mutations in UNC13D gene, coding the granule priming factor Munc13-4 that intervenes in NK and T cell cytotoxic...
5.
Colobran R, Pedrosa E, Carretero-Iglesia L, Juan M
Clin Exp Immunol
. 2010 Jul;
162(1):41-52.
PMID: 20659124
Genome copy number changes (copy number variations: CNVs) include inherited, de novo and somatically acquired deviations from a diploid state within a particular chromosomal segment. CNVs are frequent in higher...
6.
Colobran R, Casamitjana N, Roman A, Faner R, Pedrosa E, Arostegui J, et al.
Genes Immun
. 2009 Jan;
10(3):254-9.
PMID: 19148142
Lung transplantation (LT) has become an accepted therapy for selected patients with advanced lung disease. One of the main limitations to successful LT is rejection of the transplanted organ where...
7.
Colobran R, Comas D, Faner R, Pedrosa E, Anglada R, Pujol-Borrell R, et al.
Genes Immun
. 2008 Mar;
9(4):279-88.
PMID: 18368065
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 integrate the analysis...
8.
Colobran R, Pujol-Borrell R, Armengol M, Juan M
Clin Exp Immunol
. 2007 Sep;
150(1):1-12.
PMID: 17848170
In this second review on chemokines, we focus on the polymorphisms and alternative splicings and on their consequences in disease. Because chemokines are key mediators in the pathogenesis of inflammatory,...
9.
Colobran R, Pujol-Borrell R, Armengol M, Juan M
Clin Exp Immunol
. 2007 Apr;
148(2):208-17.
PMID: 17437419
Chemokines are a superfamily of small structurally related cytokines that have evolved to form a complex network of proteins that typically regulate leucocyte traffic but also carry very diverse sets...
10.
Luna A, Julian J, Alba A, Colobran R, Garcia-Cuyas F, Fernandez-Figueras M, et al.
Transplant Proc
. 2002 Apr;
34(1):196-9.
PMID: 11959246
No abstract available.