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Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients' Signatures
(Nature Publishing Group, 2019-07-10)
By GWAS studies on celiac disease, gene expression was studied at the level of the whole intestinal mucosa, composed by two different compartments: epithelium and lamina propria. Our aim is to analyse the gene-expression ...
Human mitochondrial DNA is extensively methylated in a non-CpG context
(Oxford University Press, 2019-09-06)
Mitochondrial dysfunction plays critical roles in cancer development and related therapeutic response; however, exact molecular mechanisms remain unclear. Recently, alongside the discovery of mitochondrial-specific DNA ...
Mendelian randomization analysis of celiac GWAS reveals a blood expression signature with diagnostic potential in absence of gluten consumption
(Oxford University Press, 2019-09-15)
Celiac disease (CeD) is an immune-mediated enteropathy with a strong genetic component where the main environmental trigger is dietary gluten, and currently a correct diagnosis of the disease is impossible if gluten-free ...
The role of primary cilia in Townes-Brocks Syndrome
(2019-02-01)
El Síndrome de Townes-Brocks (TBS1, MIM 107480 ) está causado por mutaciones en el gen SALL1, dando lugar, en la mayoría de los casos, a una proteína truncada. TBS se caracteriza por un espectro de malformaciones en dedos, ...
Expression analysis of lung miRNAs responding to ovine VM virus infection by RNA-seq
(Biomed Central, 2019-01-18)
BackgroundMicroRNAs (miRNAs) are short endogenous, single-stranded, noncoding small RNA molecules of approximately 22 nucleotides in length. They regulate gene expression posttranscriptionally by silencing mRNA expression, ...
Presiones selectivas en la región HLA
(2019-12-09)
En la presente tesis doctoral se ha trabajado con la hipótesis de que existe unconjunto de procesos y presiones selectivas que afectan a los genes HLA clase I y II delComplejo Mayor de Histocompatibilidad de manera ...
Diseño, desarrollo y validación del test de genotipado sanguíneo ID RHD XT. Determinación de las variantes genéticas más frecuentes que codifican la expresión nula o débil del antígeno eritrocitario RhD
(2019-12-16)
Los antígenos del sistema Rh son los responsables de las reacciones hemolíticas asociadas a la incompatibilidad sanguínea donante ¿ receptor, de la inmunización en los pacientes politransfundidos, de la enfermedad del feto ...
European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin
(Public Library Science, 2019-09-23)
Author summary Human demographic processes and admixture events leave traceable footprints in the genomes of the populations and they can modulate the genetic architecture of complex diseases. Here, we aim to study the ...
MAGI2 Gene Region and Celiac Disease
(Frontiers Media, 2019-12-19)
Celiac disease (CD) patients present a loss of intestinal barrier function due to structural alterations in the tight junction (TJ) network, the most apical unions between epithelial cells. The association of TJ-related ...
RNA-Seq analysis of ileocecal valve and peripheral blood from Holstein cattle infected with Mycobacterium avium subsp. paratuberculosis revealed dysregulation of the CXCL8/IL8 signaling pathway
(Nature Publishing Group, 2019-10-16)
Paratuberculosis is chronic granulomatous enteritis of ruminants caused by Mycobacterium avium subsp. paratuberculosis (MAP). Whole RNA-sequencing (RNA-Seq) is a promising source of novel biomarkers for early MAP infection ...