PTEN
Recent articles
Genetic background steers PTEN syndrome traits
People with the syndrome, caused by variants in the gene PTEN, often have autism or cancer, or both, but it depends on the genetic diversity encoded in the components of distinct cell signaling pathways, according to a new study.
Genetic background steers PTEN syndrome traits
People with the syndrome, caused by variants in the gene PTEN, often have autism or cancer, or both, but it depends on the genetic diversity encoded in the components of distinct cell signaling pathways, 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.
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.
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.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Genetic background sways effects of autism-linked mutation
Experiments offer clues to why certain mutations are associated with autism in some people and not others.
Fishing for protein partners nets clues to autism
Connections between 13 autism-linked proteins and their binding partners in excitatory neurons implicate a new molecular pathway.
Fishing for protein partners nets clues to autism
Connections between 13 autism-linked proteins and their binding partners in excitatory neurons implicate a new molecular pathway.
Two-drug combo blunts autism-linked pathway in brain
One drug blocks mTOR signaling, and the other stops the blocker from acting anywhere in the body but the brain, lowering the potential for side effects.
Two-drug combo blunts autism-linked pathway in brain
One drug blocks mTOR signaling, and the other stops the blocker from acting anywhere in the body but the brain, lowering the potential for side effects.
New diagnostic code for PTEN syndrome may spur research
The code may help scientists identify people with the autism-linked condition and recruit them into clinical trials.
New diagnostic code for PTEN syndrome may spur research
The code may help scientists identify people with the autism-linked condition and recruit them into clinical trials.
The cloudy connection between fragile X and cancer
People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.
The cloudy connection between fragile X and cancer
People with the autism-linked syndrome lack a protein implicated in several cancers, but it’s unclear whether — or how — they are protected from malignancies.
Meet the ‘mitomaniacs’ who say mitochondria matter in autism
Clues that problems with mitochondria contribute to autism have been accumulating for decades. In the past five years, a mutant mouse and a flurry of findings have energized the field.
Meet the ‘mitomaniacs’ who say mitochondria matter in autism
Clues that problems with mitochondria contribute to autism have been accumulating for decades. In the past five years, a mutant mouse and a flurry of findings have energized the field.
Null and Noteworthy: Null rejection, repetitive behaviors, unsuccessful treatments
In this edition of Null and Noteworthy, tests of intranasal oxytocin and an Angelman syndrome treatment fail to see results.
Null and Noteworthy: Null rejection, repetitive behaviors, unsuccessful treatments
In this edition of Null and Noteworthy, tests of intranasal oxytocin and an Angelman syndrome treatment fail to see results.
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New questions around motor neurons and plasticity
A researcher’s theory hangs muscle degeneration on a broken neural circuit.
New questions around motor neurons and plasticity
A researcher’s theory hangs muscle degeneration on a broken neural circuit.
Boosting SCN2A expression reduces seizures in mice
A modified form of CRISPR amps up expression of the gene—a strategy that could apply to other gene variations linked to autism.
Boosting SCN2A expression reduces seizures in mice
A modified form of CRISPR amps up expression of the gene—a strategy that could apply to other gene variations linked to autism.
Nikolay Kukushkin discusses his book, ‘One Hand Clapping: Unraveling the Mystery of the Human Mind’
He explains how meaning arises in the interactions found throughout nature and evolution, from molecules to minds.
Nikolay Kukushkin discusses his book, ‘One Hand Clapping: Unraveling the Mystery of the Human Mind’
He explains how meaning arises in the interactions found throughout nature and evolution, from molecules to minds.