Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.

Proceedings of the National Academy of Sciences of the United States of America - 25 Jul 2017

Diamantopoulou Anastasia, Sun Ziyi, Mukai Jun, Xu Bin, Fenelon Karine, Karayiorgou Maria, Gogos Joseph A

Abstract excerpt

Identification of protective loss-of-function (LoF) mutations holds great promise for devising novel therapeutic interventions, although it faces challenges due to the scarcity of protective LoF alleles in the human genome. Exploiting the detailed mechanistic characterization of animal models of validated disease mutations offers an alternative. Here, we provide insights into protective-variant biology based on...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic Predisposition to Disease
Share to Loss of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Mice, Inbred C57BL

Share to Neuronal Plasticity

Share to Phenotype

Share to Schizophrenia

Source

Open in PubMed Open full text

Identifiers

PMID: 28696314
DOI: 10.1073/pnas.1615719114
PMCID: PMC5544257

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion.PMID 28696314Read ↗

Setd1a Insufficiency in Mice Attenuates Excitatory Synaptic Function and Recapitulates Schizophrenia-Related Behavioral Abnormalities.Semantic proximity Read ↗

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.Semantic proximity Read ↗

The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders.Semantic proximity Read ↗

A genetics-first approach to understanding autism and schizophrenia spectrum disorders: the 22q11.2 deletion syndrome.Semantic proximity Read ↗

An antisense oligonucleotide-based strategy to ameliorate cognitive dysfunction in the 22q11.2 Deletion SyndromeSemantic proximity Read ↗

Epigenetic factors in the 22q11.2 deletion syndrome in relation to stress and schizophreniaSemantic proximity Read ↗

Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations.Semantic proximity Read ↗

miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndromeSemantic proximity Read ↗

Aberrant pace of cortical neuron development in brain organoids from patients with 22q11.2 deletion syndrome-associated schizophreniaSemantic proximity Read ↗

Development of animal models for schizophrenia.Semantic proximity Read ↗

Mutations of schizophrenia risk gene <i>SETD1A</i> dysregulate synaptic function in human neuronsSemantic proximity Read ↗

Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.