A5061952253- Congenital heart defects research
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Cardiomyopathy and Myosin Studies
- Genomic variations and chromosomal abnormalities
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- Genomics and Rare Diseases
- Protein Tyrosine Phosphatases
- Tissue Engineering and Regenerative Medicine
- Genetics and Neurodevelopmental Disorders
- Galectins and Cancer Biology
- Circular RNAs in diseases
- COVID-19 Impact on Reproduction
- Drug-Induced Ocular Toxicity
- Cleft Lip and Palate Research
- Cancer-related gene regulation
- Genetics, Bioinformatics, and Biomedical Research
- Cancer-related molecular mechanisms research
- Vascular Malformations and Hemangiomas
- Mitochondrial Function and Pathology
- Folate and B Vitamins Research
- COVID-19 Clinical Research Studies
- Islanding Detection in Power Systems
Hospital Infantil de México Federico Gómez
2010-2023
University of Nottingham
2007-2014
Queen's Medical Centre
2007-2013
Newcastle University
2012-2013
Leeds Teaching Hospitals NHS Trust
2012
University Hospitals of Leicester NHS Trust
2012
University of Oxford
2012
Newcastle upon Tyne Hospitals NHS Foundation Trust
2012
Bristol Royal Hospital for Children
2012
Previous studies have shown that copy-number variants (CNVs) contribute to the risk of complex developmental phenotypes. However, contribution global CNV burden sporadic congenital heart disease (CHD) remains incompletely defined. We generated genome-wide data by using Illumina 660W-Quad SNP arrays in 2,256 individuals with CHD, 283 trio CHD-affected families, and 1,538 controls. found association rare genic deletions CHD (odds ratio [OR] = 1.8, p 0.0008). Rare study participants had higher...
Congenital heart defects (CHDs) are the most common birth defect worldwide and a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal (AVSDs) an important subtype CHDs for which genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios 112 unrelated individuals with nonsyndromic AVSDs identified five rare missense variants (two arose de novo) highly conserved gene NR2F2, very significant enrichment (p = 7.7 × 10−7) compared to...
Congenital heart defects (CHD) are collectively the most common form of congenital malformation. Studies human cases and animal models have revealed that mutations in several genes responsible for both familial sporadic forms CHD. We previously shown a mutation MYH6 can cause an autosomal dominant atrial septal defect (ASD), whereas others identified same gene patients with hypertrophic dilated cardiomyopathy. In present study, we report analysis wide spectrum The was performed DNA samples...
Recurrent rearrangements of chromosome 1q21.1 that occur via non-allelic homologous recombination have been associated with variable phenotypes exhibiting incomplete penetrance, including congenital heart disease (CHD). However, the gene or genes within ∼1 Mb critical region responsible for each remains unknown. We examined locus in 948 patients tetralogy Fallot (TOF), 1488 other forms CHD and 6760 ethnically matched controls using single nucleotide polymorphism genotyping arrays (Illumina...
Atrial septal defect (ASD) is one of the most frequent congenital heart defects (CHDs) with a variable phenotypic effect depending on size shunt. We identified two pedigrees comprising 20 members segregating isolated autosomal dominant secundum ASD. By genetic mapping, we gene-encoding alpha-cardiac actin (ACTC1), which essential for cardiac contraction, as likely candidate. A mutation screen coding regions ACTC1 revealed founder predicting an M123V substitution in affected individuals both...
We conducted a genome-wide association study to search for risk alleles associated with Tetralogy of Fallot (TOF), using northern European discovery set 835 cases and 5159 controls. A region on chromosome 12q24 was (P = 1.4 × 10−7) replicated convincingly 3.9 10−5) in 798 2931 controls [per allele odds ratio (OR) 1.27 replication cohort, P 7.7 10−11 combined populations]. Single nucleotide polymorphisms the glypican 5 gene 13q32 were also 1.7 1.2 789 2927 (per OR 1.31 3.03 populations). Four...
Background. Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 GATA4 were the first CHD-causing identified by linkage analysis in large affected families. Mutations TBX5 Holt–Oram syndrome, which includes CHD as a clinical feature. All three have well-established role cardiac development. Design. In order investigate possible multiple mutations CHD, combined mutation...
Myotonic dystrophy (DM) is a multi-system neuromuscular disorder for which there no treatment. We have developed medium throughput phenotypic assay, based on the identification of nuclear foci in DM patient cell lines using situ hybridization and high-content imaging to screen potentially useful therapeutic compounds. A series further assays molecular features also been employed. Two compounds that reduce and/or remove identified, Ro 31-8220 chromomycin A3. PKC inhibitor, previously shown...
Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of proteins, such as alpha myosin heavy chain, play crucial roles in cardiac development. Mutations these genes have been linked to congenital heart defects (CHDs), occurring approximately 145 live births. To date, TPM1 has not associated isolated CHDs. Analysis 380 CHD cases revealed three novel mutations gene; IVS1 + 2T > C, I130V, S229F a...
Tetralogy of Fallot (TOF) is the commonest cyanotic form congenital heart disease. In 80% cases, TOF behaves as a complex genetic condition exhibiting significant heritability. As yet, no common variants influencing risk have been robustly identified.
Abstract Background Epidemiological studies indicate a substantial excess familial recurrence of non-syndromic Tetralogy Fallot (TOF), implicating genetic factors that remain largely unknown. The Rho induced kinase 1 gene (ROCK1) is key component the planar cell polarity signalling pathway, which plays an important role in normal cardiac development. aim this study was to investigate variation ROCK1 on risk TOF. Results sequenced discovery cohort 93 TOF probands identify rare variants....
Congenital heart disease (CHD) is the most common birth defect in humans. It a leading infant mortality factor worldwide, caused by defective cardiac development. Mutations transcription factors, signalling and structural molecules have been shown to contribute genetic component of CHD. Recently, mutations genes encoding myofibrillar proteins expressed embryonic also emerged as an important causative disease, which implies that contraction early primordium contributes its morphogenesis. This...
Abstract Background Opitz GBBB syndrome (GBBB) is an X‐linked disease characterized by midline defects, including congenital heart defects. We present our diagnostic approach to the identification of in a consanguineous family which two males siblings were concordant for total anomalous connection pulmonary veins and minor facial dysmorphias. Methods Targeted exome sequencing analysis 380‐gene panel associated with cardiovascular was performed on propositus. Interpretative results conducted,...
Congenital heart disease (CHD) affects the intricate structure and function of is one leading causes death in newborns. The genetic basis CHD beginning to emerge. Our laboratory has been engaged identifying mutations genes linked both families sporadic cases. Over last two decades, we have employed linkage analysis, targeted gene sequencing genome wide association studies identify involved CHDs. Cardiac specific that encode transcription factors sarcomeric proteins identified CHD. Functional...
Abstract Introduction Severe COVID-19 is infrequent in children, with a lethality rate of about 0.08%. This study aims to explore differences the pediatric mortality between countries. Methods Countries populations over 5 million that report deaths disaggregated data by quinquennial or decennial age groups were analyzed. Data extracted from Cases and Deaths Age Database, national ministries health, World Health Organization. Results 23 countries included analysis. Pediatric varied 0 12.1 per...
Recently, the sex determining region Y ( Sry ) and cerebellar degeneration-related protein 1 CDR1as RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave circular endogenous sponges for micro (miRNAs) miR-138 miR-7, respectively. A special feature gene is its ability generate linear transcripts, both transcribed in sense orientation. Here we remark (e.g. RNA) antisense could circularize miRNAs sponges, importantly, also...
Background: The existence of a causal relationship between lower levels plasma folate and congenital cardiovascular malformation (CVM) remains contentious. We undertook genetic approach using the principles “Mendelian randomization” to determine causality in CVM risk. Methods Findings: compared genotype frequencies at methylene tetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphism (SNP) 1186 cases 4168 controls. TT MTHFR is associated with folate. Thus, if had effect on...