Homo sapiens
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA318941 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Kids First Pediatric Research Project on the Genomic Analysis of Congenital Diaphragmatic Hernia
| PRJNA318940 | ENA
Project description:Kids First Pediatric Research Program in Congenital Heart Disease
| PRJNA324734 | ENA
Project description:Kids First Pediatric Research Program in Congenital Heart Disease
| PRJNA324733 | ENA
Project description:To investigate the effect of treprostinil pulmonary development in a rabbit model of congenital diaphragmatic hernia.
2023-10-31 | GSE220739 | GEO
Project description:Investigation into the effects of Congenital Diaphragmatic Hernia (CDH) and subsequent treatment with tracheal occlusion (TO) on the pulmonary transcriptome. A diaphragm defect was created by surgical means in fetal rabbits. The surgical creation of diaphragmatic hernia (DH) allows for direct analysis of changes in pulmonary gene expression due to pulmonary hypoplasia, without the need for gene knockdown (as for KO mice) or use of teratogens (such as nitrofen). The subsequent treatment with tracheal occlusion (TO) was also investigated to determine the changes in gene expression due to forced lung growth in the prenatal phase. RNA-Seq analysis was performed on left lung samples from fetal rabbits. Samples were generated and analysed for DH (n=4), TO (n=6), and control lungs (n=4)
2015-04-15 | E-MTAB-3452 | biostudies-arrayexpress
Project description:Lung organoids made from pluripotent stem cells have the potential to enhance our understanding of disease mechanisms in pediatric lung disorders. As proof of concept, we have established a reproducible ex vivo model of lung organoid development derived from human induced pluripotent stem cells generated from fetuses and infants with Bockdalek congenital diaphragmatic hernia (CDH), a polygenic disorder associated with fetal lung compression and often lethal pulmonary hypoplasia at birth. We used microarrays to compare transcriptomes among the different cell types focusing on genes associated with lung development and extracellular matrix. We seek to identity anomalous gene expression during lung development, using lung organoids generated from hiPS of patients with congenital diafragmatic hernia.
2020-05-05 | GSE149780 | GEO
Project description:<p>The Gabriella Miller Kids First Pediatric Research Program (<a href="https://www.commonfund.nih.gov/KidsFirst" target="_blank">Gabriella Miller Kids First Pediatric Research Program</a>) (Kids First) is a trans-NIH effort initiated in response to the <a href="https://www.govtrack.us/congress/bills/113/hr2019" target="_blank">2014 Gabriella Miller Kids First Research Act</a> and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource). Both, childhood cancers and structural birth defects are critical and costly conditions associated with substantial morbidity and mortality. Elucidating the underlying genetic etiology of these diseases has the potential to profoundly improve preventative measures, diagnostics, and therapeutic interventions.</p> <p>WGS and phenotypic data from this study are accessible through dbGaP and <a href="https://kidsfirstdrc.org/" target="_blank">kidsfirstdrc.org</a>, where other Kids First datasets can also be accessed.</p> <p>In collaboration with the University of Utah, DNA from four families were selected for high-depth WGS (60X) including diaphragm and skin tissue to identify mosaicism.</p> <p>In collaboration with the Broad Institute, DNA from four families underwent linked long read sequencing using 10X Genomics technology.</p> <p>Probands with congenital diaphragmatic hernia/defects and both biological parents enrolled as part of the DHREAMS study.</p>
| phs001110 | dbGaP
Project description:Kids First Pediatric Research Project on Adolescent Idiopathic Scoliosis
| PRJNA394550 | ENA
Project description:Kids First Pediatric Research Project on Adolescent Idiopathic Scoliosis
| PRJNA394551 | ENA
Project description:The production of skeletal muscle constructs useful for in vivo large defects replacement, such as congenital diaphragmatic hernia (CDH), is still considered a challenge. The standard application of prosthetic material presents strong limitations, like hernia recurrences in a remarkable number of CDH patients. With this work, we developed a tissue engineering approach based on decellularized diaphragmatic muscle and human cells for the generation in vitro of diaphragmatic-like tissues as proof-of-concept of a new option for the surgical treatment of large diaphragm defects. A specific bioreactor for diaphragmatic muscle was achieved to control mechanical stimulation during the construct generation. In vitro tests demonstrated the increased maturation of mechanically stimulated constructs, with the formation of new oriented and aligned muscle fibres. Moreover, after in vivo orthotopic implantation in a CDH mouse model, mechanically stimulated muscles maintained the presence of human cells within myofibers, supporting the idea of a new therapeutic option for this dramatic congenital malformation. Production of diaphragmatic-like tissues using mouse decellularized extracellular matrix, human cells and mechanical stimulation with bioreactor
2022-02-28 | GSE180636 | GEO