A5107655188- Cystic Fibrosis Research Advances
- Cardiomyopathy and Myosin Studies
- Sexual Differentiation and Disorders
- Genomics and Rare Diseases
- RNA modifications and cancer
- Tracheal and airway disorders
- Asthma and respiratory diseases
- Hormonal Regulation and Hypertension
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Connective tissue disorders research
- Genomic variations and chromosomal abnormalities
- Neonatal Respiratory Health Research
- Cardiovascular Function and Risk Factors
- Cellular transport and secretion
- Cardiovascular Effects of Exercise
- Genetics and Neurodevelopmental Disorders
- Peptidase Inhibition and Analysis
- Adrenal and Paraganglionic Tumors
- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Genetic and Kidney Cyst Diseases
- Adrenal Hormones and Disorders
- Viral Infections and Immunology Research
- Neurological diseases and metabolism
- Cardiac Valve Diseases and Treatments
Vall d'Hebron Hospital Universitari
2012-2025
Vall d'Hebron Institut de Recerca
2020-2025
Universitat Autònoma de Barcelona
2020-2024
Centre for Biomedical Network Research on Rare Diseases
2017
Consejo Nacional de Investigaciones Científicas y Técnicas
2009
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which involved sphingolipid biosynthesis, are associated with intellectual disability, but pathogenic mechanism remains obscure. Here, we characterize 31 individuals de novo missense variants CERT1. Several fall into a previously uncharacterized dimeric helical domain that enables...
ABSTRACT Bainbridge–Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform detailed molecular description establish genotype–phenotype correlation. We identified 19 variants, nine of which are novel....
SIAH1 encodes for a RING-type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β-catenin and mediates ubiquitination degradation Akt3 neural development. Heterozygous de novo missense pathogenic variants have been described five unrelated individuals are associated with developmental delay, hypotonia, dysmorphic features. In this report, we present additional from eight families their...
Previous studies found high but very variable levels of tetranor-PGEM and PGD-M (urine metabolites prostaglandin (PG) E2 PGD2, respectively) in persons with cystic fibrosis (pwCF), which correlated the severity CF transmembrane receptor (CFTR) genetic alteration. This study aims to assess potential role cyclooxygenase (COX)-1 COX-2 polymorphisms variability PG production, determine as markers symptoms imaging findings. Thirty healthy subjects 103 pwCF were included study. Clinical...
Abstract Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range reproductive phenotypes resulting from defects in specification, migration and/or function GnRH neurons. To identify additional molecular components this system, we initiated systematic genetic interrogation families with isolated deficiency (IGD). Here, report 13 (12 autosomal dominant and one recessive) an anosmic form IGD (Kallmann syndrome) loss-of-function mutations TCF12, locus also known to cause...
Abstract Aymé‐Gripp syndrome (AYGRPS) is a recognizable condition caused by restricted spectrum of dominantly acting missense mutations affecting the transcription factor MAF . Major clinical features AYGRPS include congenital cataracts, sensorineural hearing loss, intellectual disability, and distinctive flat facial appearance. Skeletal abnormalities have also been observed in affected individuals, even though these not assessed systematically. Expanding series with four additional...
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle rare conditions with large genetic component whose management treatment could be improved by an accurate classification underlying molecular conditions, next-generation sequencing (NGS) should the most appropriate approach. Therefore, we conducted survey dedicated to use potential outcomes NGS for SDM disorders diagnosis among 53 health care providers (HCP) European Reference Network endocrine conditions....
The availability of a simple, robust and non-invasive in vitro airway model would be useful to study the functionality cystic fibrosis transmembrane regulator (CFTR) protein personalize modulator therapy for (CF) patients. Our aim was validate CFTR functional using nasospheroids, patient-derived nasal cell 3D-culture. We performed live-cell experiments nasospheroids obtained from wild-type individuals CF patients with different genotypes phenotypes. extended existing method expanded analysis...
Abstract Cerebellofaciodental syndrome (MIM #616202) is an autosomal recessive condition characterized by intellectual disability, microcephaly, cerebellar hypoplasia, dysmorphic features, and short stature. To date, eight patients carrying biallelic BRF1 variants have been reported. Here, we describe two siblings with congenital microcephaly corpus callosum pre postnatal growth retardation, heart defect severe global developmental delay. We also detected additional findings not previously...
Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility extensive preconception carrier screening (PCS) consanguineous who may be at rare genetic disorders.We retrospectively analysed ES data from 65 probands affected with disorders born couples. We explored diagnostic yield and status for disorders.The overall a singleton approach was 53.8%, mostly variants. In hypothetical exome-based...
Background: Previous studies found high but very variable levels of tetranor-PGEM and PGDM (urine metabolites prostaglandin (PG) E2 PGD2, respectively) in persons with cystic fibrosis (pwCF). This study aims to assess the role cyclooxygenase COX-1 COX-2 genetic polymorphisms PG production as potential markers symptoms’ severity imaging findings. Methods: A total 30 healthy subjects 103 pwCF were included this study. Clinical radiological CF was evaluated using clinical scoring methods chest...