Copy number variation
Recent articles
Gene replacement therapy normalizes some traits in SYNGAP1 model mice
The first published virus-based gene therapy for SYNGAP1 deletion yields benefits despite the gene’s long length and complexity.
Gene replacement therapy normalizes some traits in SYNGAP1 model mice
The first published virus-based gene therapy for SYNGAP1 deletion yields benefits despite the gene’s long length and complexity.
Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.
Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Partner selection may amplify rare variants in children
Nonrandom mating — the propensity for people to partner with others who share their traits — can increase the likelihood of autism or other conditions across generations.
Mitochondria mediate effects of PTEN mutations
Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.
Mitochondria mediate effects of PTEN mutations
Whole-genome sequencing data — which include information about mitochondrial DNA — offer clues to why mutations in the same gene can lead to autism or cancer.
Brain signatures of rare variants hint at cardiovascular risk
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
Brain signatures of rare variants hint at cardiovascular risk
People whose brains look like those of people who carry autism-linked copy number variants also share markers of heart health.
Common and rare autism-linked variants share functional effects
Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.
Common and rare autism-linked variants share functional effects
Within the 16p region of the genome, the two types of variants similarly decrease neuronal gene expression — an effect that may reflect their spatial relationship.
Autistic people at increased genetic risk of sleep problems
Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.
Autistic people at increased genetic risk of sleep problems
Compared with their unaffected siblings and unrelated controls, children with autism harbor more copy number variants in genes that govern the circadian cycle or are associated with insomnia.
Autism’s genetic heterogeneity evident in brain connectivity patterns
The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.
Autism’s genetic heterogeneity evident in brain connectivity patterns
The results highlight the importance of subgrouping study participants based on their underlying genetics, the researchers say.
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
Chromosome 22 mutations leave telltale marks on brain development in autistic people
Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.
Chromosome 22 mutations leave telltale marks on brain development in autistic people
Many brain regions develop differently between people with 22q11.2 duplications and deletions, and those trajectories also vary with a person’s diagnosis.
Explore more from The Transmitter
Marcelle Lapicque: A forgotten pioneer of neuroscience
Lapicque was the first Black female neuroscientist in Europe, new research suggests.
Marcelle Lapicque: A forgotten pioneer of neuroscience
Lapicque was the first Black female neuroscientist in Europe, new research suggests.
In-vivo base editing in a mouse model of autism, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 23 February.
In-vivo base editing in a mouse model of autism, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 23 February.
Infant visual system categorizes common objects by 2 months of age
Brain activity patterns in the ventral visual cortex appear to distinguish images across 12 categories, including birds and trees, longitudinal functional MRI scans suggest.
Infant visual system categorizes common objects by 2 months of age
Brain activity patterns in the ventral visual cortex appear to distinguish images across 12 categories, including birds and trees, longitudinal functional MRI scans suggest.