Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Global interpretation of novel alternative splicing events in human congenital pulmonary airway malformations

ABSTRACT: Global interpretation of novel alternative splicing events in human congenital pulmonary airway malformations

PROVIDER: PRJNA743568 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Dataset's files

Source:

			Action	DRS
	SRR15037105_1.fastq.gz	Fastqsanger.gz
	SRR15037105_2.fastq.gz	Fastqsanger.gz
	SRR15037106_1.fastq.gz	Fastqsanger.gz
	SRR15037106_2.fastq.gz	Fastqsanger.gz
	SRR15037107_1.fastq.gz	Fastqsanger.gz

Items per page:

1 - 5 of 30

Similar Datasets

Global interpretation of novel alternative splicing events in human congenital pulmonary airway malformations

Project description:To explore the long non-coding RNA (lncRNA) expression pattern of congenital lung malformations on a genome-wide scale and investigate their potential biological function in four types of congenital lung malformations.

2021-12-07 | GSE179404 | GEO

The application of second-generation sequencing in congenital pulmonary airway malformations

Project description:The application of second-generation sequencing in congenital pulmonary airway malformations

| PRJNA787785 | ENA

Novel molecular and phenotypic insights into congenital lung malformations

Project description:The purpose of this study was to identify gene expression changes associated with congenital lung malformations.

2018-01-23 | GSE100442 | GEO

Whole-genome methylation study of congenital lung malformations in children

Project description:The treatment of asymptomatic patients with congenital pulmonary malformations (CPMs) remains controversial, partially because the relationship between congenital lung malformations and malignancy is still undefined. Change in methylation pattern is a crucial event in human cancer, including lung cancer. We therefore studied all differentially methylated regions (DMRs) in a series of CPMs in an attempt to find methylation anomalies in genes already described in association with malignancy. The DNA extracted from resected congenital lung malformations and control lung tissue was screened using Illumina MethylationEPIC arrays. Comparison between the group of malformed samples or the malformed samples of same histology or each malformed sample and the controls, and between a pleuropulmonary blastoma (PPB) and controls were performed. All differentially methylated regions (DMRs) with an adjusted p value < 0,05 were studied. Every comparison highlighted a number of DMRs closed to genes involved either in cell proliferation or in embryonic development or included in the Cancer Gene Census. Their abnormal methylation had been already described in lung tumors. The presence of methylation abnormalities is suggestive of a correlation between congenital lung malformations and some step of malignant transformation.

2021-05-19 | GSE174625 | GEO

Comparative transcriptome analyses highlight distinct pathogenetic mechanisms for pleuropulmonary blastoma and congenital pulmonary airway malformations II

Project description:Comparative transcriptome analyses highlight distinct pathogenetic mechanisms for pleuropulmonary blastoma and congenital pulmonary airway malformations II

| PRJNA1368780 | ENA

Comparative transcriptome analyses highlight distinct pathogenetic mechanisms for pleuropulmonary blastoma and congenital pulmonary airway malformations I

Project description:Comparative transcriptome analyses highlight distinct pathogenetic mechanisms for pleuropulmonary blastoma and congenital pulmonary airway malformations I

| PRJNA1368805 | ENA

Comparative transcriptome analyses highlight distinct pathogenetic mechanisms for pleuropulmonary blastoma and congenital pulmonary airway malformations II

Project description:Pleuropulmonary blastoma (PPB) and congenital pulmonary airway malformations (CPAM) are two rare cystic lung diseases occurring in childhood. PPB can evolve from a low-grade epithelial cyst lesion to a high-grade sarcoma with poor prognosis, while CPAM usually has a favorable non-tumorous outcome. Clinical similarities complicate diagnosis and may delay appropriate care. PPB is associated with DICER1 mutations that disturb miRNA biogenesis, altering the miRNA repertoire. Conversely, KRAS mutations are detected in CPAM, but their implication remains unclear. To decipher the mechanisms underlying these diseases, we undertook a comprehensive analysis of molecular variations in CPAM and PPB lung lesions using genome-wide RNA-seq and miRNA-seq assays. Each pathology displayed a distinct expression profile revealing a unique etiology. CPAM presented misexpression of bronchial epithelial markers correlating with KRAS mutation, while changes in expression of distal lung epithelial and mesenchymal markers were PPB-specific. PPB also exhibited abnormal gain of expression of developmental transcription factors likely due to perturbed Polycomb Repressive Complex 2 (PRC2) activity. Overexpression of miR-323a-3p, which targets the PRC2 subunit EED, correlated with decreased EED expression. Together, these observations propose a PPB pathogenetic mechanism connecting DICER1 mutations and altered miRNA profile to defective PRC2 activity, misexpression of developmental transcription factors and cancer.

2026-01-05 | GSE311209 | GEO

Comparative transcriptome analyses highlight distinct pathogenetic mechanisms for pleuropulmonary blastoma and congenital pulmonary airway malformations I

2026-01-05 | GSE311205 | GEO

The application of second-generation sequencing in congenital pulmonary airway malformations

Project description:Objective: To investigate the differential expression of genes in whole transcripts of congenital pulmonary airway malformation (CPAM) using second-generation sequencing (also known as next-generation sequencing, NGS) technology. Methods: Children with CPAM were strictly screened after setting the criteria, and grouped by taking CPAM parietal tissue and CPAM lesion tissue respectively, and RNA-Seq libraries were established separately using second-generation sequencing technology, followed by differential expression analysis and GO (gene ontology) functional enrichment analysis, KEGG pathway analysis and GSEA (Gene Set Enrichment Analysis) analysis. Results: Five cases were screened from 36 children with CPAM, and high-throughput sequencing was performed to obtain 10 whole transcripts of samples with acceptable sequence quality and balanced gene coverage. One aberrantly expressed sample was found by analysis of principal components, which was excluded and then subjected to differential expression analysis, and 860 up-regulated genes and 203 down-regulated genes. GO functional enrichment analysis of differentially expressed genes demonstrates the functional class and cellular localization of target genes. Conclusion: The whole transcript of CPAM shows obvious gene up- and down-regulation, differentially expressed genes are located in specific cells and belong to different functional categories, and NGS can provide an effective means to study the transcriptional regulation of CPAM from the overall transcriptional level.

2022-12-07 | GSE190620 | GEO

Whole-genome methylation study of congenital lung malformations in children

Project description:Whole-genome methylation study of congenital lung malformations in children

| PRJNA730816 | ENA