ArticleMolecular syndromology2013
Sonic Hedgehog Signaling and VACTERL Association.
Article in Molecular syndromology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
14 citing papers in PubMed, 32 citations in OpenAlex.
- The Incidence and Spectrum of Congenital Heart Defects in Patients with Anorectal Malformations: A 10-Year Retrospective Cohort Study.Pediatric cardiology · 2026Article
- Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association.Scientific reports · 2023Article
- Perturbation of 3D nuclear architecture, epigenomic dysregulation and aging, and cannabinoid synaptopathy reconfigures conceptualization of cannabinoid pathophysiology: part 1-aging and epigenomics.Frontiers in psychiatry · 2023Review
- Hedgehog signaling activates a mammalian heterochronic gene regulatory network controlling differentiation timing across lineages.Developmental cell · 2022Article
- VACTERL syndrome with late presentation of annular pancreas with duodenal web: Case report.Radiology case reports · 2022Article
- Article
- European epidemiological patterns of cannabis- and substance-related congenital cardiovascular anomalies: geospatiotemporal and causal inferential study.Environmental epigenetics · 2022Article
- Hedgehog Signaling in Intestinal Development and Homeostasis.Annual review of physiology · 2021Review
- Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.Journal of medical case reports · 2016Review
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
- Article
- Analysis of renal anomalies in VACTERL association.Birth defects research. Part A, Clinical and molecular teratology · 2014Article
- Maternal diabetes modulates kidney formation in murine progeny: the role of hedgehog interacting protein (HHIP).Diabetologia · 2014Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hedgehog (Hh) signaling is vital for the patterning and organogenesis of almost every system. The specificity of these developmental processes is achieved through a tight spatio-temporal regulation of Hh signaling. Mice with defective Hh signal exhibit a wide spectrum of anomalies, including Vertebral defects, Anal atresia, Cardiovascular anomalies, Tracheoesophageal fistula, Renal dysplasia, and Limb defects, that resemble strikingly the phenotypes observed in VACTERL association in humans. In this review, we summarize our current understanding of mammalian Hh signaling and highlight the relevance of various mouse models for studying the etiology and pathogenesis of VACTERL association. In addition, recent advances in genetic study for unraveling the complexity of genetic inheritance of VACTERL and the implication of the Sonic hedgehog pathway in disease pathogenesis are also discussed.
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Registered trials
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.