A5056239608- Blood Coagulation and Thrombosis Mechanisms
- Complement system in diseases
- Obsessive-Compulsive Spectrum Disorders
- Wheat and Barley Genetics and Pathology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genomic variations and chromosomal abnormalities
- Gut microbiota and health
- Clostridium difficile and Clostridium perfringens research
- Cellular transport and secretion
- Hemophilia Treatment and Research
- Protease and Inhibitor Mechanisms
- Eosinophilic Disorders and Syndromes
- RNA and protein synthesis mechanisms
- Peripheral Neuropathies and Disorders
- Congenital heart defects research
- Multiple Myeloma Research and Treatments
- Amyotrophic Lateral Sclerosis Research
- Transplantation: Methods and Outcomes
- Autism Spectrum Disorder Research
- Connective tissue disorders research
- N-Heterocyclic Carbenes in Organic and Inorganic Chemistry
- Plant Virus Research Studies
- Bipolar Disorder and Treatment
- Genetic Mapping and Diversity in Plants and Animals
- RNA modifications and cancer
Quantitative Genomics Medicine Laboratories (qGenomics)
2023
Centre for Genomic Regulation
2009-2022
Centro de Investigación Biomédica en Red
2014-2016
Biomedical Research Networking Center on Neurodegenerative Diseases
2014-2016
Universitat Autònoma de Barcelona
2014-2016
Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública
2009-2010
University of Pittsburgh
2010
Institut Català d'Oncologia
1999-2000
Hospital de Sant Pau
1997
Centro de Investigaciones Biológicas Margarita Salas
1997
Abstract Although the etiology of obsessive–compulsive disorder (OCD) is largely unknown, it accepted that OCD a complex disorder. There known bi-directional interaction between gut microbiome and brain activity. Several authors have reported associations changes in microbiota neuropsychiatric disorders, including depression or autism. Furthermore, pediatric-onset OCD-related syndrome occurs after streptococcal infection, which might indicate exposure to certain microbes could be involved...
Abstract Common single-nucleotide polymorphisms (SNPs) account for a large proportion of the heritability obsessive-compulsive disorder (OCD). Co-ocurrence OCD and schizophrenia is commoner than expected based on their respective prevalences, complicating clinical management patients. This study addresses two main objectives: to identify particular genes associated with by SNP-based gene-based tests; test existence polygenic risk shared schizophrenia. The primary analysis was an exon-focused...
Genomic DNA fragments from Triticum tauschii (D-genome donor to wheat) carrying starch branching enzyme I (SBE I) type genes have been characterized. One fragment contains one complete gene and two partial in 16 kb of DNA. the is oriented opposite strand other two. The that was sequenced. Its structure corresponds closely rice exons 3–8 are retained at similar sizes spacings. A cDNA corresponding isolated characterized; it codes for a putative protein represents novel SBE I, as shorter 3′...
Amyotrophic lateral sclerosis (ALS) is an adult onset neurodegenerative disease characterized by the loss of motoneurons (MNs) in spinal cord, brainstem and motor cortex, causing progressive paralysis death. Nowadays, there no effective therapy most patients die 2–5 years after diagnosis. Sigma-1R a transmembrane protein highly expressed CNS specially enriched MNs. Mutations on leading to frontotemporal lobar degeneration-ALS were recently described human patients. We previously reported...
DNA sequence analysis of the protein S gene (PROS1) in 22 Spanish probands with type I or III PS deficiency, has allowed identification 10 different mutations and 2 new variants 15 probands. Nine mutations, 8 which are novel, cosegregate quantitative deficiency 12 13 pedigrees analyzed. One these (Q238X) also cosegregates both PS-deficient phenotypes coexisting a I/III pedigree. Another mutation identified pedigree two is missense R520G, present homozygous form propositus heterozygous his...
The human chromosome 8p23.1 region contains a 3.8-4.5 Mb segment which can be found in different orientations (defined as genomic inversion) among individuals. identification of single nucleotide polymorphisms (SNPs) tightly linked to the orientation given should useful indirectly evaluate genotypes large individuals.We have identified 16 SNPs, are linkage disequilibrium (LD) with inversion detected by fluorescent situ hybridization (FISH). variability 150 HapMap samples was predicted using...
Anticoagulant protein S (PS) deficiency is a known risk factor for thrombophilia. The structure and high allelic heterogeneity of the PS gene (PROS1), together with presence 97% homologous pseudogene, complicates PROS1 analysis. We have optimized simple, fast, non-isotopic Single-Strand Conformation Analysis (SSCA or SSCP) method mutation detection. This accomplished through analysis single-stranded heteroduplex DNA fragments corresponding to 15 PCR segments that include part 5'-upstream...
Summary The multifactorial character of thrombotic disease is shown in a Spanish pedigree which the propositus, with recurrent deep vein thrombosis, inherited factor V R/Q506 mutation, prothrombin 20210G/A variant and type III Protein S deficiency. Among 14 relatives carrying one or two these three risk factors, thrombosis present heterozygote for another 20210G/A, who also had slightly positive antiphospholipid antibodies. Type I PS deficiency was found young asymptomatic woman. PROS1...
We report the results of protein C gene (PROC) analysis in a Spanish family with hereditary PC deficiency characterized by presence three siblings anticoagulant activity levels clearly below 50% normal and antigen amidolytic activities between 50 75% normal. Their parents are first cousins have 80% Sequence whole coding sequence PROC revealed that double homozygotes for G to A transition at nucleotide 3203 replaces arginine 87 histidine (R87H) another 7054, intron 7 (7054G → A). Both one...
We report the genetic abnormalities in protein C genes of a Spanish child with neonatal purpura fulminans and disseminated intravascular coagulation, associated undetectable levels. Direct sequencing nine gene exons their splice junctions indicated that proband is compound heterozygote two mutant alleles, Y124C Q132X, do not express plasma. The mutation was inherited from mother due to novel A G transition at nucleotide 3416, which results substitution cysteine for tyrosine 124, highly...
ABSTRACT Although the etiology of obsessive-compulsive disorder (OCD) is largely unknown, it accepted that OCD a complex disorder. There known bi-directional interaction between gut microbiome and brain activity. Several authors have reported associations changes in microbiota neuropsychiatric disorders, including depression or autism. Furthermore, pediatric-onset OCD-related syndrome occurs after streptococcal infection, which might indicate exposure to certain microbes could be involved...
RNA-based studies are an important tool for the identification and functional characterization of mutations underlying inherited disease. These could in principle be compromised by ‘aberrant splicing’ (the generation alternatively spliced transcripts lacking any obvious function) during normal expression genes under investigation. Using a highly sensitive RT-PCR assay, we show here that aberrant splicing is frequent occurrence protein C (PROC) S (PROS) genes. Aberrantly were present...
DNA sequence analysis of the protein S gene (PROS1) in 22 Spanish probands with type I or III PS deficiency, has allowed identification 10 different mutations and 2 new variants 15 probands. Nine mutations, 8 which are novel, cosegregate quantitative deficiency 12 13 pedigrees analyzed. One these (Q238X) also cosegregates both PS-deficient phenotypes coexisting a I/III pedigree. Another mutation identified pedigree two is missense R520G, present homozygous form propositus heterozygous his...
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants PPP2R1A have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. gene encodes protein subunit the serine/threonine phosphatase 2A enzyme, which plays critical role cellular function. We report an individual showing pontocerebellar hypoplasia (PCH), microcephaly, optic peripheral nerve abnormalities, absence typical features like epilepsy...
Anticoagulant protein S (PS) deficiency is a known risk factor for thrombophilia. The structure and high allelic heterogeneity of the PS gene (PROS1), together with presence 97% homologous pseudogene, complicates PROS1 analysis. We have optimized simple, fast, non-isotopic Single-Strand Conformation Analysis (SSCA or SSCP) method mutation detection. This accomplished through analysis single-stranded heteroduplex DNA fragments corresponding to 15 PCR segments that include part 5′-upstream...
Background:The human chromosome 8p23.1 region contains a 3.8-4.5Mb segment which can be found in different orientations (defined as genomic inversion) among individuals.The identification of single nucleotide polymorphisms (SNPs) tightly linked to the orientation given should useful indirectly evaluate genotypes large individuals. Results:We have identified 16 SNPs, are linkage disequilibrium (LD) with inversion detected by fluorescent situ hybridization (FISH).The variability 150 HapMap...