ArticleMolecular psychiatry2003
Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene.
Article in Molecular psychiatry, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Meta-analysis of epigenome-wide association studies of major depressive disorder.Scientific reports · 2022Pooled it
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- Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.Frontiers in molecular neuroscience · 2024Review
- Molecular Mechanisms Involved in the Regulation of Neurodevelopment by miR-124.Molecular neurobiology · 2023Review
- Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.Human molecular genetics · 2023Article
- Epac1-/- and Epac2-/- mice exhibit deficient epithelial Na+ channel regulation and impaired urinary Na+ conservation.JCI insight · 2022Article
- PXF-1 promotes synapse development at the neuromuscular junction inFrontiers in molecular neuroscience · 2022Article
- The Rap1 small GTPase is a critical mediator of the effects of stress on prefrontal cortical dysfunction.Molecular psychiatry · 2021Article
- Autophagy activity contributes to the impairment of social recognition in Epac2Molecular brain · 2021Article
- The RNA-Binding Protein HuD Regulates Alternative Splicing and Alternative Polyadenylation in the Mouse Neocortex.Molecules (Basel, Switzerland) · 2021Article
- Epac: new emerging cAMP-binding protein.BMB reports · 2021Review
- Small GTPases of the Ras and Rho Families Switch on/off Signaling Pathways in Neurodegenerative Diseases.International journal of molecular sciences · 2020Review
- A peek into Epac physiology in the kidney.American journal of physiology. Renal physiology · 2019Article
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- Loss of EPAC2 alters dendritic spine morphology and inhibitory synapse density.Molecular and cellular neurosciences · 2019Article
- Intracellular cAMP Sensor EPAC: Physiology, Pathophysiology, and Therapeutics Development.Physiological reviews · 2018Review
- Functional significance of rare neuroligin 1 variants found in autism.PLoS genetics · 2017Article
- PDE11A regulates social behaviors and is a key mechanism by which social experience sculpts the brain.Neuroscience · 2016Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The results from several genome scans indicate that chromosome 2q21-q33 is likely to contain an autism susceptibility locus. We studied the potential contribution of nine positional and functional candidate genes: TBR-1; GAD1; DLX1; DLX2; cAMP-GEFII; CHN1; ATF2; HOXD1 and NEUROD1. Screening these genes for DNA variants and association analysis using intragenic single nucleotide polymorphisms did not provide evidence for a major role in the aetiology of autism. Four rare nonsynonymous variants were identified, however, in the cAMP-GEFII gene. These variants were present in five families, where they segregate with the autistic phenotype, and were not observed in control individuals. The significance of these variants is unclear, as their low frequency in IMGSAC families does not account for the relatively strong linkage signal at the 2q locus. Further studies are needed to clarify the contribution of cAMP-GEFII gene variants to autism susceptibility.
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