Search results for " Sequencing"
showing 10 items of 976 documents
Dinámica de la microbiota en niños, adolescentes y adultos
2022
La microbiota intestinal se implanta a lo largo del desarrollo del individuo y su composición y funciones difieren según la edad. Conocer los cambios que se producen en la microbiota intestinal a lo largo de la vida puede ayudar al diagnóstico, tratamiento y prevención de enfermedades relacionadas con alteraciones metabólicas e inmunitarias. Con este trabajo pretendemos contribuir a la comprensión del proceso de desarrollo de la microbiota intestinal, centrándonos en dos períodos que han recibido poca atención: los primeros años y la adolescencia. Hemos determinado la composición y la función de la microbiota a través de enfoques metagenómicos de genoma completo y basados en ARN ribosómic…
Vibrio vulnificus: from water to host
2017
Vibrio vulnificus is an aquatic pathogen autochthonous from temperate, tropical and subtropical ecosystems where it lives either as a sessile cell, forming biofilms or as a free-swimming cell. From these locations, the pathogen can occasionally infect humans and fish causing a disease named vibriosis. The most severe form of human and fish vibriosis is associated with the pathogen’s ability to spread from the infection site to the bloodstream and multiply, process known as invasion. Before invasion, the pathogen has to colonize the mucosal host surface, process that involves not only bacterial attachment/adhesion but also resistance to mucosal immunity, commensal microbiota (competitors) an…
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2011
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…
Biofiltration of airborne VOCs with green wall systems : microbial and chemical dynamics
2018
Botanical air filtration is a promising technology for reducing indoor air contaminants, but the underlying mechanisms need better understanding. Here, we made a set of chamber fumigation experiments of up to 16 weeks of duration, to study the filtration efficiencies for seven volatile organic compounds (VOCs; decane, toluene, 2‐ethylhexanol, α‐pinene, octane, benzene, and xylene) and to monitor microbial dynamics in simulated green wall systems. Biofiltration functioned on sub‐ppm VOC levels without concentration‐dependence. Airflow through the growth medium was needed for efficient removal of chemically diverse VOCs, and the use of optimized commercial growth medium further improved the e…
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
2022
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…
Systemic circulating microRNA landscape in Lynch syndrome
2022
AbstractMicroRNAs (miRs) are non-coding RNA-molecules that regulate gene expression. Global circulating miR (c-miR) expression patterns (c-miRnome) change with carcinogenesis in various sporadic cancers. Therefore, aberrantly expressed c-miRs could have diagnostic, predictive and prognostic potential in molecular profiling of cancers. c-miR functions in carriers of inherited pathogenic mismatch-repair gene variants (path_MMR), also known as Lynch syndrome (LS), have remained understudied. LS cohort provides an ideal population for biomarker mining due to increased lifelong cancer risk and excessive cancer occurrence. Using high-throughput sequencing and bioinformatic approaches, we conducte…
Aplicacions de Next Generation Sequencing en organismes no model: caracterització dels transcriptomes de verins de serps
2015
Tesis doctoral. 213 páginas. Figuras, bibliografía y anexos.
Targeting the tumor mutanome for personalized vaccination therapy
2012
Next generation sequencing enables identification of immunogenic tumor mutations targetable by individualized vaccines. In the B16F10 melanoma system as pre-clinical proof-of-concept model, we found a total of 563 non-synonymous expressed somatic mutations. Of the mutations we tested, one third were immunogenic. Immunization conferred in vivo tumor control, qualifying mutated epitopes as source for effective vaccines.
Usher syndrome : molecular analysis of USH2 genes and development of a next-generation sequencing platform
2013
El síndrome de Usher (USH) es una enfermedad hereditaria autosómica recesiva, caracterizada por la asociación de hipoacusia neurosensorial, retinosis pigmentaria y, en ocasiones, alteración de la función vestibular. Clínicamente, el USH se puede clasificar en tres tipos (USH1, USH2 y USH3), principalmente en base a la gravedad y progresión de la hipoacusia y presencia o no de disfunción vestibular. El USH es heterogéneo tanto a nivel clínico como genético y, hasta la fecha, se han descrito 11 genes implicados en la enfermedad. El USH2 es la forma más común y tres son los genes responsables conocidos: USH2A (72 exones), GPR98 (90 exones) y DFNB31 (12 exones). USH2A es responsable de más del …