ReviewFrontiers in cellular neuroscience2016
RELN Mutations in Autism Spectrum Disorder.
Review in Frontiers in cellular neuroscience, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- A systematic review of common genetic variation and biological pathways in autism spectrum disorder.BMC neuroscience · 2021Pooled it
- Genetic risk factors for autism-spectrum disorders: a systematic review based on systematic reviews and meta-analysis.Journal of neural transmission (Vienna, Austria : 1996) · 2021Pooled it
- Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells · 2026Review
- Zygosity-Dependent Phenotypic Spectrum ofHuman mutation · 2026Article
- Review
- Modeling the developing nervous system: a neuroscience perspective on the use of new approach methodologies in developmental neurotoxicity testing.Toxicological sciences : an official journal of the Society of Toxicology · 2025Review
- Antioxidant-Effective Quercetin Through Modulation of Brain Interleukin-13 Mitigates Autistic-Like Behaviors in the Propionic Acid-Induced Autism Model in Rats.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2025Article
- Reelin signaling as a translational rheostat: linking synaptic homeostasis to neurodevelopment and neurodegeneration.Frontiers in molecular neuroscience · 2025Article
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- Neurocognitive, Clinical and Reelin Activity in Rehabilitation Using Neurofeedback Therapy in Patients with Schizophrenia.Journal of clinical medicine · 2024Article
- De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.The Journal of clinical investigation · 2024Article
- Traversing the epigenetic landscape: DNA methylation from retina to brain in development and disease.Frontiers in cellular neuroscience · 2024Review
- Reelin Signaling and Synaptic Plasticity in Schizophrenia.Brain sciences · 2023Review
- Neuroimaging genetics approaches to identify new biomarkers for the early diagnosis of autism spectrum disorder.Molecular psychiatry · 2023Review
- Article
- Adult-specific Reelin expression alters striatal neuronal organization: implications for neuropsychiatric disorders.Frontiers in cellular neuroscience · 2023Article
- Specific contribution of Reelin expressed by Cajal-Retzius cells or GABAergic interneurons to cortical lamination.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Reelin cells and sex-dependent synaptopathology in autism following postnatal immune activation.British journal of pharmacology · 2022Article
- Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.Translational psychiatry · 2022Article
- ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.European journal of human genetics : EJHG · 2022Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
RELN encodes a large, secreted glycoprotein integral to proper neuronal positioning during development and regulation of synaptic function postnatally. Rare, homozygous, null mutations lead to lissencephaly with cerebellar hypoplasia (LCH), accompanied by developmental delay and epilepsy. Until recently, little was known about the frequency or consequences of heterozygous mutations. Several lines of evidence from multiple studies now implicate heterozygous mutations in RELN in autism spectrum disorders (ASD). RELN maps to the AUTS1 locus on 7q22, and at this time over 40 distinct mutations have been identified that would alter the protein sequence, four of which are de novo. The RELN mutations that are most clearly consequential are those that are predicted to inactivate the signaling function of the encoded protein and those that fall in a highly conserved RXR motif found at the core of the 16 Reelin subrepeats. Despite the growing evidence of RELN dysfunction in ASD, it appears that these mutations in isolation are insufficient and that secondary genetic or environmental factors are likely required for a diagnosis.
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What OpenQuestion holds
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.