Julián Nevado
A5065461526- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Genetic Syndromes and Imprinting
- Genetic and Kidney Cyst Diseases
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Hedgehog Signaling Pathway Studies
- Renal and related cancers
- Chromosomal and Genetic Variations
- Advanced Glycation End Products research
- Nitric Oxide and Endothelin Effects
- Liver Disease Diagnosis and Treatment
- Connective tissue disorders research
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- Genetic Associations and Epidemiology
- Genomics and Chromatin Dynamics
- Williams Syndrome Research
- Hearing, Cochlea, Tinnitus, Genetics
- Cleft Lip and Palate Research
- HIV Research and Treatment
- Renal Diseases and Glomerulopathies
Instituto de Salud Carlos III
2016-2025
Hospital Universitario La Paz
2016-2025
Centre for Biomedical Network Research on Rare Diseases
2016-2025
Universidad Autónoma de Madrid
2013-2025
Hospital Universitario Nuestra Señora de Candelaria
2025
Centro de Investigación Biomédica en Red
2014-2024
Hospital La Paz Institute for Health Research
2010-2024
Max Delbrück Center
2024
ERN GUARD-Heart
2020-2024
European Union
2024
Abstract The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference supporting genomic analyses through semantic similarity machine learning algorithms. HPO has widespread applications in clinical diagnostics translational research, including diagnostics, gene-disease discovery, cohort analytics. In recent years, groups around world have developed translations from English...
Summary Vascular endothelial dysfunction occurs during the human aging process, and it is considered as a crucial event in development of many vasculopathies. We investigated underlying mechanisms this particularly those related with oxidative stress inflammation, vasculature subjects aged 18–91 years without cardiovascular disease or risk factors. In isolated mesenteric microvessels from these subjects, an age‐dependent impairment endothelium‐dependent relaxations to bradykinin was...
Phelan-McDermid syndrome (PMS) is an infrequently described that presents with a disturbed development, neurological and psychiatric characteristics, sometimes other comorbidities. As part of the development European medical guidelines we studied definition, phenotype, genotype-phenotype natural history syndrome. The number confirmed diagnoses PMS in different countries was also assessed it could be concluded underdiagnosed. incidence estimated to at least 1 30,000. Next generation...
Background and purpose: Ototoxicity is a known adverse effect of cisplatin (CDDP). Since apoptosis involved in the development some pathological conditions associated with administration anticancer drugs, we examined, using immunohistochemical electrophysiological techniques, apoptotic changes cochlea Sprague‐Dawley (SD) rats after an injection CDDP (5 mgkg ‐1 body weight). Experimental approach: Luciferase assays were used to determine different caspase activities ATP levels protein...
Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility prenatal settings is still unknown. We conducted a comparative study currently after invasive sampling. A multicentric collection 1-year series fetal samples with indication sampling was simultaneously evaluated using three screening methodologies: (1) karyotype and quantitative fluorescent polymerase chain reaction (QF-PCR), (2) two panels multiplex...
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism. Recently, several microhomology-mediated repair mechanisms—such end-joining (MMEJ), fork stalling and template switching (FoSTeS), break-induced replication (MMBIR), serial slippage (SRS), SRS (BISRS)—were described in etiology of non-recurrent CNVs human disease. In addition, their formation may be stimulated genomic architectural...
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of long arm chromosome 22 (22q13.3) or pathogenic sequence variants in SHANK3 gene. codes for a structural protein that plays central role formation postsynaptic terminals and maintenance synaptic structures. Clinically, patients with PMS often present global developmental delay, absent severely delayed speech, neonatal hypotonia, minor dysmorphic features, autism spectrum disorders...
Previous epigenome-wide association studies have shown that HIV infection can disrupt the host DNA methylation landscape. However, it remains unclear how antiretroviral therapy (ART) affects HIV-induced epigenetic modifications.184 individuals with from NEAT001/ANRS143 clinical trial (with pre-ART and post-ART samples [96 weeks of follow-up]) 44 age-and-sex matched without were included. We compared genome-wide profiles in whole blood between groups adjusting for age, sex, batch effects,...
Individuals affected with DiGeorge and Velocardiofacial syndromes present both phenotypic diversity variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia a characteristic craniofacial dysmorphism. etiology in patients is 3 Mb recurrent deletion region 22q11.2. However, cases of infrequent deletions duplications different sizes locations have also been reported, generally milder, slightly phenotype...
Pulmonary arterial hypertension (PAH) is a pathological condition characterized by persistent and progressive elevation of pulmonary vascular resistance with devastating consequences if untreated. In the past recent years, several genes have been related to PAH, however, molecular defect remains unknown in significant proportion patients familial PAH (∼20%). During few we observed that shows particular behavior Iberian Gypsies, more aggressive course frequently affecting multiple members...
GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action Hedgehog (Hh) morphogens. Accordingly, inactivating variants in are found several developmental disorders. In contrast, loss-of-function mutations GLI1 have remained elusive, maintaining enigmatic role this gene human embryo. We describe eight patients from three independent families having biallelic truncating defects overlapping with Ellis-van Creveld syndrome (EvC), disease caused...
Most patients with Ellis-van Creveld syndrome (EvC) are identified pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describe splicing variants WDR35, encoding retrograde intraflagellar transport protein 121 (IFT121), three families a clinical diagnosis of EvC but having distinctive phenotype. To understand why WDR35 result EvC, analysed EVC, EVC2 and Smoothened (SMO) IFT-A deficient cells. We found that the proteins failed to...
Abstract Background Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that expressed from only one parental allele. Disease may result in coding sequences, copy number changes, uniparental disomy imprinting defects. Some disorders clinically heterogeneous, some associated with more than imprinted locus, patients have alterations affecting multiple loci. Most diagnosed stepwise analysis of gene dosage...
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% 30% cases, respectively. We undertaken a mutation analysis EXT2 in 39 unrelated Spanish patients, most them with moderate phenotype looked genotype-phenotype correlations. found mutant allele 37 29 8 EXT2. Five mutations were deletions identified MLPA. cases mosaicism documented....