15q11-13
Recent articles
UBE3A’s link to synaptic pruning bolstered by fly study
Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.
UBE3A’s link to synaptic pruning bolstered by fly study
Increasing or reducing the levels of the UBE3A gene, which is associated with autism and autism-related syndromes, results in altered patterns of synaptic pruning — a process that snips away brain cell connections.
Trials test utility of EEG biomarkers for autism-related conditions
This month’s Going on Trial newsletter dives into an electroencephalography biomarker that could track the efficacy of treatments for dup15q and Angelman syndromes, among other drug development news.
Trials test utility of EEG biomarkers for autism-related conditions
This month’s Going on Trial newsletter dives into an electroencephalography biomarker that could track the efficacy of treatments for dup15q and Angelman syndromes, among other drug development news.
Swings and misses with Jeremy Veenstra-VanderWeele
A careful clinician who prizes evidence, Jeremy Veenstra-VanderWeele is happy to embrace trial failures, as long as he learns from them.
Swings and misses with Jeremy Veenstra-VanderWeele
A careful clinician who prizes evidence, Jeremy Veenstra-VanderWeele is happy to embrace trial failures, as long as he learns from them.
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.
Single gene insufficient to account for dup15q, Angelman traits
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
Single gene insufficient to account for dup15q, Angelman traits
UBE3A, a key gene associated with both autism-linked conditions, can explain most — but not all — of the syndromes’ atypical neuronal properties.
Protein networks identified in autism-linked genetic deletion
The OTUD7A gene, which may account for some traits in people missing a segment of chromosome 15, appears to interact with several known autism-linked genes.
Protein networks identified in autism-linked genetic deletion
The OTUD7A gene, which may account for some traits in people missing a segment of chromosome 15, appears to interact with several known autism-linked genes.
Consistent, convergent pathways link two forms of autism
People with dup15q syndrome and those with idiopathic autism have similar patterns of altered gene expression in early brain development and later in life.
Consistent, convergent pathways link two forms of autism
People with dup15q syndrome and those with idiopathic autism have similar patterns of altered gene expression in early brain development and later in life.
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.
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
Lumping versus splitting with autism-linked variants: A conversation with Vanessa Vogel-Farley and Yssa DeWoody
Researchers have long studied subgroups of people who share genetic variants, but the newly formed ‘CNV Commission’ is also looking at people with shared traits across different neurodevelopmental conditions.
Autism and the complete human genome: Q&A with Evan Eichler
Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.
Autism and the complete human genome: Q&A with Evan Eichler
Scientists have at last filled in the missing gaps — an advance likely to inform every aspect of autism genetics research, Eichler says.
Explore more from The Transmitter
Coding error caused layoffs at National Institute of Neurological Disorders and Stroke this week, source says
Thirty employees—including 11 lab heads—at the institute should “immediately return to work,” according to an email the institute’s Office of Human Resources sent to top administration at the institute Wednesday evening.
Coding error caused layoffs at National Institute of Neurological Disorders and Stroke this week, source says
Thirty employees—including 11 lab heads—at the institute should “immediately return to work,” according to an email the institute’s Office of Human Resources sent to top administration at the institute Wednesday evening.
PTEN problems underscore autism connection to excess brain fluid
Damaging variants in the autism-linked gene cause congenital hydrocephalus—a buildup of cerebrospinal fluid in the brain—by turbocharging a downstream signaling pathway that promotes the growth of cells, according to a new study.
PTEN problems underscore autism connection to excess brain fluid
Damaging variants in the autism-linked gene cause congenital hydrocephalus—a buildup of cerebrospinal fluid in the brain—by turbocharging a downstream signaling pathway that promotes the growth of cells, according to a new study.
U.S. health agency purge includes 10 lab heads at National Institute of Neurological Disorders and Stroke
The reasons for selecting these researchers—who have led work on neuronal migration, dopamine receptors in neuronal signaling and the structure of ion channels, among other areas—remain unclear.
U.S. health agency purge includes 10 lab heads at National Institute of Neurological Disorders and Stroke
The reasons for selecting these researchers—who have led work on neuronal migration, dopamine receptors in neuronal signaling and the structure of ion channels, among other areas—remain unclear.