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The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

ABSTRACT: The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

PROVIDER: PRJNA625349 | ENA |

REPOSITORIES: ENA

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The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

Project description:The Research Institute at Nationwide Children's Hospital Genetics of Congenital Heart Disease (CHD)

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The Institute for Genomic Medicine at Nationwide Children's Hospital Pediatric Cancer and Blood Disorder Project

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Expression data for biophenotypic leukemia patients treated in St. Jude Children's Research Hospital

Project description:Mixed-lineage leukemias represent about 3-5% of acute leukemias occurring in patients of all ages and comprise several different subtypes (biphenotypic, bilineal, and lineage switch). The optimal therapeutic approach to these cases, especially in pediatric patients, has not been defined. We used microarrays to detail the gene expression of pediatric patients with biophenotypic leukemia. Keywords: Patient sample accumulation

2009-01-06 | GSE14286 | GEO

Array CGH in congenital heart disease

Project description:Congenital heart disease (CHD) is the most frequent birth defect and affects nearly 1% of newborns. The etiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but next to nothing is known about the impact of DNA copy number changes in non-syndromic CHD. Here we present a sub-megabase resolution array CGH screen of a cohort with CHD as the sole abnormality at the time of diagnosis. Keywords: array CGH In this BAC array CGH study 104 patients with congenital heart disease and some of their parents were screened for DNA copy number changes at submegabase resolution. No dye swap was performed.

2008-05-11 | E-GEOD-7527 | biostudies-arrayexpress

Array CGH in congenital heart disease

2008-05-12 | GSE7527 | GEO

Analysis of CHD non-coding DNVs for their impact on cardiac cis-regulatory element activity

Project description:6761 CHD non-coding DNVs were prioritized from 749 unexplained CHD trios and functionally assessed in iPSC-CMs using lentiMPRA.

2023-11-16 | GSE208285 | GEO

LncRNA microarray analysis of coronary heart disease (CHD)

Project description:The present study aims to explore the expression profiles and biological functions of long-chain noncoding RNA (lncRNA) in coronary heart disease (CHD)

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Integrated multiomic characterization of congenital heart disease [RNA-Seq]

Project description:The heart, the first organ to develop, undergoes complex morphogenesis that when defective results in congenital heart disease (CHD). With current therapies, more than 90% of CHD patients survive into adulthood but often suffer premature death from heart failure (HF) and non-cardiac causes 1. To gain insight into poorly understood disease progression, we performed single nuclear RNA sequencing (snRNA-seq) and analyzed more than 157,000 nuclei from donors and CHD patients, including hypoplastic left heart syndrome (HLHS) and Tetralogy of Fallot (TOF), two common forms of cyanotic CHD lesions, as well as, dilated (DCM) and hypertrophic (HCM) cardiomyopathies. We observed CHD specific cell states in cardiomyocytes (CMs) which had evidence of insulin resistance and increased FOXO and CRIM1 expression. Cardiac fibroblasts (CFs) in HLHS had enrichment for a low HIPPO and high YAP cell state characteristic of activated CFs. Imaging Mass Cytometry (IMC) uncovered the spatially resolved perivascular microenvironment consistent with an immunodeficient state in CHD. Peripheral immune cell profiling suggested deficient monocytic immunity in CHD in agreement with CHD predilection to infection and cancer 2. Our comprehensive CHD phenotyping provides a roadmap for future personalized medicine in CHD.

2022-06-22 | GSE203274 | GEO

Integrated multiomic characterization of congenital heart disease [ATAC-Seq]

2022-06-22 | GSE203273 | GEO

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