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Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

ABSTRACT: Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

PROVIDER: PRJNA777959 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR16776781_1.fastq.gz	Fastqsanger.gz
	SRR16776781_2.fastq.gz	Fastqsanger.gz
	SRR16776782_1.fastq.gz	Fastqsanger.gz
	SRR16776782_2.fastq.gz	Fastqsanger.gz
	SRR16776783_1.fastq.gz	Fastqsanger.gz

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Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome

Project description:Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality early in life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dominant mutations in genes of the Ras-MAPK pathway. Although the cardiomyopathy associated with Noonan syndrome (NS-CM) shares certain cardiac features with the hypertrophic cardiomyopathy caused by mutations in sarcomeric proteins (HCM), such as pathological myocardial remodeling, ventricular dysfunction and increased risk for malignant arrhythmias, the clinical course of NS-CM significantly differs from HCM. This suggests a distinct pathophysiology that remains to be elucidated. Here, by analysis of sarcomeric myosin conformational states, histopathology and gene expression in left ventricular myocardial tissue from NS-CM, HCM and normal hearts complemented with disease modeling in cardiomyocytes differentiated from patient-derived PTPN11N308S/+ induced pluripotent stem cells, we demonstrate distinct disease phenotypes between NS-CM and HCM and uncover cell cycle defects as a potential driver of NS-CM.

2022-01-11 | GSE188238 | GEO

Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome.

Project description:Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with significant morbidity and mortality in early life, particularly in patients with Noonan syndrome, a multisystemic genetic disorder caused by autosomal dominant mutations in genes of the Ras-MAPK pathway. Although the cardiomyopathy associated with Noonan syndrome (NS-CM) shares certain cardiac features with the hypertrophic cardiomyopathy caused by mutations in sarcomeric proteins (HCM), such as pathological myocardial remodeling, ventricular dysfunction, and increased risk for malignant arrhythmias, the clinical course of NS-CM significantly differs from HCM. This suggests a distinct pathophysiology that remains to be elucidated. Here, through analysis of sarcomeric myosin conformational states, histopathology, and gene expression in left ventricular myocardial tissue from NS-CM, HCM, and normal hearts complemented with disease modeling in cardiomyocytes differentiated from patient-derived PTPN11 N308S/+ induced pluripotent stem cells, we demonstrate distinct disease phenotypes between NS-CM and HCM and uncover cell cycle defects as a potential driver of NS-CM.

| S-EPMC8704485 | biostudies-literature

Haptoglobin Gene Expression and Anthracycline-related Cardiomyopathy in Childhood Cancer Survivors

Project description:In this study RNA-Seq was performed in anthracycline- exposed childhood cancer survivors who had cardiomyopathy (cases) matched to those without cardiomyopathy (controls) to understand the pathogenesis of anthrcaycline-related cardiomyopathy

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CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy II

Project description:We profiled RNA expression in human iPSC-derived cardiomyocytes from patients with LZTR1-associated Noonan syndrome

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CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy I

Project description:We profiled RNA expression in human iPSC-derived cardiomyocytes from patients with LZTR1-associated Noonan syndrome

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CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy

Project description:CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy

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Inflammation potentiates JMML-like blood defects in Shp2 mutant Noonan syndrome

Project description:Hematopoietic stem and progenitor cells derived from a zebrafish model of Noonan syndrome, carrying a patient-associated Shp2-D61G mutation, display an expansion of monocyte/macrophage progenitors with an inflammatory gene expression signature.

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CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy II

Project description:CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy II

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CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy I

Project description:CRISPR repair in a preclinical model of Noonan syndrome associated cardiomyopathy I

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Identification of novel hyper- or hypo-methylated CpG sites and genes associated with anthracycline-induced cardiomyopathy

Project description:Genome wide DNA methylation profiling of peripheral blood DNA from childhood cancer survivors with and without anthracycline induced cardiomyopathy. DNA methylation status of 850,000 CpG sites was analyzed using the Illumina HumanMethylation EPIC BeadChip arrays. Matched case-control study (COG-ALTE03N1); 52 non-Hispanic White, anthracycline-exposed childhood cancer survivors with cardiomyopathy were matched 1:1 with 52 survivors with no cardiomyopathy. Anthracycline-induced cardiomyopathy is a leading cause of late morbidity in childhood cancers survivors. Aberrant DNA methylation plays a role in de novo cardiovascular disease. Epigenetic processes could play a role in anthracycline-induced cardiomyopathy, but remain unstudied. We sought to examine if genome-wide differential methylation at ‘CpG’ sites in peripheral blood DNA is associated with anthracycline-induced cardiomyopathy. We observed significant differences in DNA methylation between anthracycline-exposed childhood cancer survivors with and without cardiomyopathy, implicating differential DNA methylation in anthracycline-induced cardiomyopathy.

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