ArticleAmerican journal of medical genetics. Part A2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 51 citations in OpenAlex.
- Mitochondrial dynamics in environmental neurotoxicity: beyond oxidative stress toward spatial and functional reorganization.Archives of toxicology · 2026Review
- Contribution of omics to the pathophysiology of diaphragmatic hernias: a narrative review.European journal of pediatrics · 2025Review
- Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.American journal of human genetics · 2024Article
- Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.Pediatric surgery international · 2024Article
- Role of genetics and the environment in the etiology of congenital diaphragmatic hernia.World journal of pediatric surgery · 2024Review
- The role of genes and environment in the etiology of congenital diaphragmatic hernias.Current topics in developmental biology · 2023Review
- Cellular, molecular, and metabolic aspects of developing lungs in congenital diaphragmatic hernia.Frontiers in pediatrics · 2022Review
- The Role ofGenes · 2021Review
- Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.International journal of molecular sciences · 2021Review
- Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family.BMC medical genomics · 2021Article
- Morphofunctional Characterization of Different Tissue Factors in Congenital Diaphragmatic Hernia Affected Tissue.Diagnostics (Basel, Switzerland) · 2021Article
- Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge.Frontiers in pediatrics · 2021Review
- Cell culture system to assay candidate genes and molecular pathways implicated in congenital diaphragmatic hernias.Developmental biology · 2020Article
- Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.HGG advances · 2020Article
- The influence of genetics in congenital diaphragmatic hernia.Seminars in perinatology · 2020Review
- Article
- miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation.Scientific reports · 2019Article
- Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.Molecular medicine reports · 2017Article
- Congenital diaphragmatic hernias: from genes to mechanisms to therapies.Disease models & mechanisms · 2017Review
Corrections and comments
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Authors and funding
26 authors at 17 institutions in 7 countries.
Funding
Abstract
Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high-resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub-band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein-protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated GATA4, NEIL2, and SOX7 in diaphragmatic defects. Sequence analysis of these genes in 226 chromosomally normal CDH patients, as well as in a small number of deletion 8p23.1 patients, showed rare unreported variants in the coding region; these may be contributing to the diaphragmatic phenotype. We also demonstrated that two of these three genes were expressed in the E11.5-12.5 primordial mouse diaphragm, the developmental stage at which CDH is thought to occur. This combination of bioinformatics and expression studies can be applied to other chromosomal hotspots, as well as private microdeletions or microduplications, to identify causative genes and their interaction networks.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.