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30 results for “Hypoplastic Left Heart Syndrome”
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
<p>Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with a likely oligogenic etiology, but our understanding of the genetic complexities and pathogenic mechanisms leading to HLHS is limited. We therefore performed whole genome sequencing (WGS) on a large cohort of HLHS patients and their families to identify candidate genes that were then tested in <em>Drosophila</em> heart model for functional and structural requirements. Bioinformatic analysis of WGS data from an index family comprised of a HLHS proband born to consanguineous parents and postulated to have a homozygous recessive disease etiology, prioritized 9 candidate genes with rare, predicted damaging homozygous variants. Of the candidate HLHS gene homologs tested, cardiac-specific knockdown (KD) of mitochondrial MICOS complex subunit dCHCHD3/6 resulted in drastically compromised heart contractility, diminished levels of sarcomeric actin and myosin, reduced cardiac ATP levels, and mitochondrial fission-fusion defects. Interestingly, these heart defects were similar to those inflicted by cardiac KD of ATP synthase subunits of the electron transport chain (ETC), consistent with the MICOS complex's role in maintaining cristae morphology and ETC complex assembly. Analysis of 183 genomes of HLHS patient-parent trios revealed five additional HLHS probands with rare, predicted damaging variants in CHCHD3 or CHCHD6. Hypothesizing an oligogenic basis for HLHS, we tested 60 additional prioritized candidate genes in these cases for genetic interactions with CHCHD3/6 in sensitized fly hearts. Moderate KD of CHCHD3/6 in combination with Cdk12 (activator of RNA polymerase II), RNF149 (E3 ubiquitin ligase), or SPTBN1 (scaffolding protein) caused synergistic heart defects, suggesting the potential involvement of a diverse set of pathways in HLHS. Further elucidation of novel candidate genes and genetic interactions of potentially-disease-contributing pathways is expected to lead to a better understanding of HLHS and other CHDs.</p>
Intramyocardial Injection of Autologous Umbilical Cord Blood Derived Mononuclear Cells During Surgical Repair of Hypoplastic Left Heart Syndrome
ClinicalTrials.gov study NCT03779711. IPD Sharing: NO. Countries: 1. Publications: 1.
The CHILD Trial: Hypoplastic Left Heart Syndrome Study.
ClinicalTrials.gov study NCT03406884. IPD Sharing: NO. Countries: 1. Publications: 3.
Mitochondrial MICOS complex genes, implicated in hypoplastic left heart syndrome, maintain cardiac contractility and actomyosin integrity
Open the record for dataset details and reuse information.
Long-term Outcomes of Children With Hypoplastic Left Heart Syndrome and the Impact of Norwood Shunt Type
ClinicalTrials.gov study NCT02455531. IPD Sharing: Not stated. Countries: 0. Publications: 1.
Safety and Feasibility Study of Umbilical Cord Blood Cells for Infants With Hypoplastic Left Heart Syndrome
ClinicalTrials.gov study NCT01445041. IPD Sharing: Not stated. Countries: 1. Publications: 6.
Comparison of Feeding Strategies for Hypoplastic Left Heart Syndrome Infants
ClinicalTrials.gov study NCT02657629. IPD Sharing: Not stated. Countries: 0. Publications: 6.
Evaluation of Lomecel-B™ Injection in Patients With Hypoplastic Left Heart Syndrome (HLHS): A Phase IIb Clinical Trial.
ClinicalTrials.gov study NCT04925024. IPD Sharing: NO. Countries: 1. Publications: 1.
Lomecel-B Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS)
ClinicalTrials.gov study NCT03525418. IPD Sharing: Not stated. Countries: 1. Publications: 1.
The complex genetics of hypoplastic left heart syndrome
GEO Series GSE77799. Mus musculus. 18 samples. Type: Genome binding/occupancy profiling by high throughput sequencing; Expression profiling by high throughput sequencing.
Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome
GEO Series GSE207658. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Single-Cell RNA-Seq and Patient-Specific iPSCs Reveal Endocardial Abnormalities in Hypoplastic Left Heart Syndrome
GEO Series GSE138979. Homo sapiens. 16 samples. Type: Expression profiling by high throughput sequencing.
Pathogenesis of Hypoplastic Left Heart Syndrome [RNA-seq]
GEO Series GSE77798. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
Identification of Copy Number Variants in Patients with Hypoplastic Left Heart Syndrome and Other Congenital Heart Defects
GEO Series GSE66032. Homo sapiens. 70 samples. Type: Genome variation profiling by SNP array.
Impaired myocardial contractility underlies an Rbfox-mediated zebrafish model of hypoplastic left heart syndrome
GEO Series GSE189934. Danio rerio. 16 samples. Type: Expression profiling by high throughput sequencing.
Study of Intramyocardial Injection of Ventrix Bio Extracellular Matrix (VentriGel) to Assess the Safety and Feasibility in Pediatric Patients with Hypoplastic Left Heart Syndrome (HLHS)
ClinicalTrials.gov study NCT06461676. IPD Sharing: NO. Countries: 1. Publications: 0.
Safety Study of Autologous Umbilical Cord Blood Cells for Treatment of Hypoplastic Left Heart Syndrome
ClinicalTrials.gov study NCT01883076. IPD Sharing: NO. Countries: 1. Publications: 0.
A Prospective Study of Patients With Hypoplastic Left Heart Syndrome (HLHS) Following Stage II Surgical Palliation
ClinicalTrials.gov study NCT01708863. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Umbilical Cord Blood Collection and Processing for Hypoplastic Left Heart Syndrome Patients
ClinicalTrials.gov study NCT01856049. IPD Sharing: NO. Countries: 1. Publications: 0.
Fetal Aortic Valvuloplasty for Evolving Hypoplastic Left Heart Syndrome
ClinicalTrials.gov study NCT06342999. IPD Sharing: NO. Countries: 1. Publications: 0.
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Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.