Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

ABSTRACT: Challenging of ECMO Application in Pediatric Restrictive Cardiomyopathy: Case Report of a Novel TNNI3 Variant

PROVIDER: PRJNA1109441 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR28973182_1.fastq.gz	Fastqsanger.gz
	SRR28973182_2.fastq.gz	Fastqsanger.gz

Items per page:

1 - 2 of 2

Similar Datasets

Pediatric Restrictive Cardiomyopathy Mutation Analysis

Project description:Pediatric Restrictive Cardiomyopathy Mutation Analysis

| PRJNA1197576 | ENA

Pediatric Restrictive Cardiomyopathy Mutation Analysis

Project description:Pediatric Restrictive Cardiomyopathy Mutation Analysis

| PRJNA1197578 | ENA

Project description:Case report: Novel genetic variant associated with epilepsy

| PRJNA956710 | ENA

Therapeutic base editing alleviates restrictive cardiomyopathy

Project description:Therapeutic base editing alleviates restrictive cardiomyopathy

| PRJNA1256393 | ENA

Case Report: Molecular Profiling Facilitates the Diagnosis of a Challenging Case of Lung Cancer with Choriocarcinoma Features

Project description:Case Report: Molecular Profiling Facilitates the Diagnosis of a Challenging Case of Lung Cancer with Choriocarcinoma Features

| PRJNA1087426 | ENA

Project description:Case Report: Clinical and Genetic features in a case of pediatric choroidal melanoma

| PRJEB85793 | ENA

Project description:A Case report: Novel treatment for complicated pathological MIBC

| PRJNA773243 | ENA

Heat Shock Proteins and Small Nucleolar RNAs are Dysregulated in a Drosophila Model for Feline Hypertrophic Cardiomyopathy

Project description:We report the application of RNA-sequencing technology for high-throughput profiling of Drosophila that express clinical variants of feline-MyBPC3 associated with Hypertrophic Cardiomyopathy (HCM).

2020-12-04 | GSE141574 | GEO

Therapeutic base editing alleviates restrictive cardiomyopathy

Project description:Restrictive cardiomyopathy (RCM) is a severe cardiac disorder characterized by impaired ventricular filling and diastolic dysfunction, with mutations in sarcomeric proteins representing major causative factors. Mutations of TNNI3 gene (e.g. p.R192H) constitute major genetic causes of RCM, particularly affecting pediatric patients and being associated with poor prognosis. Here, we demonstrate that adenine base editor (ABE) is able effectively correct RCM-causing mutation and alleviate RCM in a murine model. We first developed a novel murine model harboring the Tnni3R193H mutation that recapitulates the hallmark features of human RCM. Importantly, targeted delivery of ABE via adeno-associated virus (AAV) achieved efficient and precise correction of the Tnni3R193H mutation in adult RCM mice, leading to significant improvement of cardiac functions. Our findings establish base editing as a therapeutic strategy for RCM and highlight its broader potential for treating genetic cardiomyopathies in clinical settings.

2025-04-30 | GSE295799 | GEO

POLYseq: A poly(ß-amino ester)-based vector for multifunctional cellular barcoding

Project description:Despite evolving stem cell and organoid application of next-generation sequencing (NGS) at single cell level, current techniques in NGS library preparation are restrictive as individual samples within a single library are indistinguishable, necessitating the laborious and costly preparation of distinct libraries for each sample. To combat this challenge, we report the development of a novel poly(ß-amino) ester labeling system synthesized with inexpensive, common reagents, termed POLYseq, capable of efficiently delivering fluorescent molecules or sample-distinguishing DNA barcodes through non-covalent binding enabling rapid creation of custom libraries.

2021-06-22 | GSE163971 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data