ArticleProceedings of the National Academy of Sciences of the United States of America2009
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 54 citations in OpenAlex.
- Integrative genomic analyses identify neuroblastoma risk genes involved in neuronal differentiation.Human genetics · 2024Article
- Unsaturated Fatty Acid Synthesis Is Associated with Worse Survival and Is Differentially Regulated byCancers · 2024Article
- Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.World journal of pediatrics : WJP · 2023Review
- Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.PLoS genetics · 2021Article
- Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome.Journal of pediatric genetics · 2021Article
- Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.American journal of human genetics · 2020Article
- Macrophage-Derived IL1β and TNFα Regulate Arginine Metabolism in Neuroblastoma.Cancer research · 2019Article
- Induction of Neural Crest Stem Cells From Bardet-Biedl Syndrome Patient Derived hiPSCs.Frontiers in molecular neuroscience · 2019Article
- Article
- Cilia and Ciliopathies in Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2017Review
- Neuroblastoma is composed of two super-enhancer-associated differentiation states.Nature genetics · 2017Article
- Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.The New England journal of medicine · 2017Article
- Interpreting human genetic variation with in vivo zebrafish assays.Biochimica et biophysica acta · 2014Review
- Coiled-coil proteins facilitated the functional expansion of the centrosome.PLoS computational biology · 2014Article
- Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.American journal of human genetics · 2014Article
- Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Human genetics · 2013Review
- In vivo modeling of the morbid human genome using Danio rerio.Journal of visualized experiments : JoVE · 2013Article
- Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.The New England journal of medicine · 2013Article
- Development and developmental disorders of the enteric nervous system.Nature reviews. Gastroenterology & hepatology · 2013Review
- Bardet-Biedl syndrome.European journal of human genetics : EJHG · 2013Article
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Authors and funding
20 authors at 10 institutions in 4 countries.
Funding
Abstract
Hirschsprung disease (HSCR) is a common, multigenic neurocristopathy characterized by incomplete innervation along a variable length of the gut. The pivotal gene in isolated HSCR cases, either sporadic or familial, is RET. HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we report 3 families with BBS and HSCR with concomitant mutations in BBS genes and regulatory RET elements, whose functionality is tested in physiologically relevant assays. Our data suggest that BBS mutations can potentiate HSCR predisposing RET alleles, which by themselves are insufficient to cause disease. We also demonstrate that these genes interact genetically in vivo to modulate gut innervation, and that this interaction likely occurs through complementary, yet independent, pathways that converge on the same biological process.
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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.