16 Result(s)
within
Raquel Rabionet
English
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Article
Open AccessRole of PATJ in stroke prognosis by modulating endothelial to mesenchymal transition through the Hippo/Notch/PI3K axis
Through GWAS studies we identified PATJ associated with functional outcome after ischemic stroke (IS). The aim of this study was to determine PATJ role in brain endothelial cells (ECs) in the context of stroke ou...
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Open AccessThe serotonin receptor 3E variant is a risk factor for female IBS-D
Irritable bowel syndrome (IBS) is a gut-brain disorder of multifactorial origin. Evidence of disturbed serotonergic function in IBS accumulated for the 5-HT3 receptor family. 5-HT3Rs are encoded by HTR3 genes and...
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Open AccessDiagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
Neurodevelopmental disorders (NDDs) are a group of heterogeneous conditions, which include mainly intellectual disability, developmental delay (DD) and autism spectrum disorder (ASD), among others. These disea...
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Open AccessChanges in the stool and oropharyngeal microbiome in obsessive-compulsive disorder
Although the etiology of obsessive–compulsive disorder (OCD) is largely unknown, it is accepted that OCD is a complex disorder. There is a known bi-directional interaction between the gut microbiome and brain ...
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Open AccessSevere Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel ...
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Open AccessLooking into the genetic bases of OCD dimensions: a pilot genome-wide association study
The multidimensional nature of obsessive-compulsive disorder (OCD) has been consistently reported. Clinical and biological characteristics have been associated with OCD dimensions in different ways. Studies su...
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness1, affecting 0.9–4% of women and 0.3% of men2–4, with twin-based heritability estimates of 50–60%5. Mortality rat...
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Open AccessBiallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease with both autoimmune and autoinflammatory components. Recently, familial cases of systemic-onset JIA have been attributed to mutations in LACC1/F...
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Open AccessDo polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach
The rate of response to pharmacological treatment in Obsessive-compulsive disorder (OCD) oscillates between 40 and 70%. Genetic and environmental factors have been associated with treatment response in OCD. Th...
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Open AccessWhole genome and exome sequencing of monozygotic twins discordant for Crohn’s disease
Crohn’s disease (CD) is an inflammatory bowel disease caused by genetic and environmental factors. More than 160 susceptibility loci have been identified for IBD, yet a large part of the genetic variance remai...
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Open AccessA common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein
The Butyrophilin-like (BTNL) proteins are likely to play an important role in inflammation and immune response. Like the B7 protein family, many human and murine BTNL members have been shown to control T lymph...
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Novel variants identified in methyl-CpG-binding domain genes in autistic individuals
Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. ...
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Human genetics branches out in Barcelona
A report of the European Human Genetics Conference, Barcelona, Spain, 31 May-3 June 2008.
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Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
Mutations in the connexin26 (GJB2) gene account for about half of inherited non-syndromic deafness cases in Western countries. The connexin26 protein is a subunit of gap junctions that form a network of inter...
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients
Two loci for nonsyndromic recessive deafness located on chromosome 21q22.3 have previously been reported, DFNB8 and DFNB10. Recently a gene which encodes a transmembrane serine protease, TMPRSS3 or ECHOS1, wa...
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Article
Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus
