16p11.2
Recent articles
Autism’s ties to the cell skeleton
Many genes related to the condition play a role in the internal scaffolding of cells, and cytoskeletal disruptions can affect neurodevelopment and behavior.
Autism’s ties to the cell skeleton
Many genes related to the condition play a role in the internal scaffolding of cells, and cytoskeletal disruptions can affect neurodevelopment and behavior.
Multi-lab study hints at benefits of long-tested autism drug
The results lend support for clinical trials of arbaclofen in people with an autism-linked condition, the researchers say.
Multi-lab study hints at benefits of long-tested autism drug
The results lend support for clinical trials of arbaclofen in people with an autism-linked condition, the researchers say.
Going on Trial: Epidiolex for autism; arbaclofen tests; pain monitoring
This month’s issue of Going on Trial takes a sneak peek at some early null results from a small trial of a cannabidiol-based drug for autism, among other recent drug developments.
Going on Trial: Epidiolex for autism; arbaclofen tests; pain monitoring
This month’s issue of Going on Trial takes a sneak peek at some early null results from a small trial of a cannabidiol-based drug for autism, among other recent drug developments.
Trials of arbaclofen for autism yield mixed results
Autistic children taking the drug showed improvements in some behaviors but not in their social skills.
Trials of arbaclofen for autism yield mixed results
Autistic children taking the drug showed improvements in some behaviors but not in their social skills.
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.
Autism and the cell’s antennae
Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.
Autism and the cell’s antennae
Many autism-linked genes are somehow tied to cilia, the tiny hair-like sensors that stud a cell’s surface. But the question remains whether, and how, cilia differences contribute to the condition.
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.
Excess of ‘don’t eat me’ cell signals may drive brain enlargement in autism
The signal, called CD47, is disrupted in autistic people who have a larger-than-average head.
Excess of ‘don’t eat me’ cell signals may drive brain enlargement in autism
The signal, called CD47, is disrupted in autistic people who have a larger-than-average head.
Gene in autism hotspot regulates neuronal migration
Restoring the gene, TAOK2, in mice missing an autism-linked region of chromosome 16 normalizes neuronal movement during development.
Gene in autism hotspot regulates neuronal migration
Restoring the gene, TAOK2, in mice missing an autism-linked region of chromosome 16 normalizes neuronal movement during development.
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.
Explore more from The Transmitter
Emotion research has a communication conundrum
In 2025, the words we use to describe emotions matter, but their definitions are controversial. Here, I unpack the different positions in this space and the rationales behind them—and I invite 13 experts to chime in.
Emotion research has a communication conundrum
In 2025, the words we use to describe emotions matter, but their definitions are controversial. Here, I unpack the different positions in this space and the rationales behind them—and I invite 13 experts to chime in.
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.
Everything everywhere all at once: Decision-making signals engage entire brain
The findings, gleaned from the most comprehensive map yet of brain activity during decision-making in mice, show that the process is even more distributed than previously thought.
Everything everywhere all at once: Decision-making signals engage entire brain
The findings, gleaned from the most comprehensive map yet of brain activity during decision-making in mice, show that the process is even more distributed than previously thought.