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
Single-cell genomics technologies and cell atlases have ushered in a new era of human neurobiology
Single-cell approaches are already shedding light on the human brain, identifying cell types that are most vulnerable in the early stages of Alzheimer’s disease, for example.
Single-cell genomics technologies and cell atlases have ushered in a new era of human neurobiology
Single-cell approaches are already shedding light on the human brain, identifying cell types that are most vulnerable in the early stages of Alzheimer’s disease, for example.
Bespoke photometry system captures variety of dopamine signals in mice
The tool tracks the excitation of an engineered protein that senses dopamine’s absolute levels, including fast and slow fluctuations in real time, and offers new insights into how the signals change across the brain.
Bespoke photometry system captures variety of dopamine signals in mice
The tool tracks the excitation of an engineered protein that senses dopamine’s absolute levels, including fast and slow fluctuations in real time, and offers new insights into how the signals change across the brain.
What infant fMRI is revealing about the developing mind
Cognitive neuroscientists have finally clocked how to perform task-based functional MRI experiments in awake babies—long known for their inability to lie still or take direction. Next, they aim to watch cognition take shape and settle a debate about our earliest memories—with one group publishing a big clue today.
What infant fMRI is revealing about the developing mind
Cognitive neuroscientists have finally clocked how to perform task-based functional MRI experiments in awake babies—long known for their inability to lie still or take direction. Next, they aim to watch cognition take shape and settle a debate about our earliest memories—with one group publishing a big clue today.