Genetic basis and therapies for vascular anomalies
Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …
of inherited and somatic mutations in important signaling pathways, including the PI3K …
Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission
Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous
research and consensus agreement to improve disease definition and classification. An …
research and consensus agreement to improve disease definition and classification. An …
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
PI3K in cancer: divergent roles of isoforms, modes of activation and therapeutic targeting
LM Thorpe, H Yuzugullu, JJ Zhao - Nature Reviews Cancer, 2015 - nature.com
Abstract Phosphatidylinositol 3-kinases (PI3Ks) are crucial coordinators of intracellular
signalling in response to extracellular stimuli. Hyperactivation of PI3K signalling cascades is …
signalling in response to extracellular stimuli. Hyperactivation of PI3K signalling cascades is …
[HTML][HTML] Zika virus NS4A and NS4B proteins deregulate Akt-mTOR signaling in human fetal neural stem cells to inhibit neurogenesis and induce autophagy
The current widespread outbreak of Zika virus (ZIKV) infection has been linked to severe
clinical birth defects, particularly microcephaly, warranting urgent study of the molecular …
clinical birth defects, particularly microcephaly, warranting urgent study of the molecular …
[HTML][HTML] The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities
JX Chong, KJ Buckingham, SN Jhangiani… - The American Journal of …, 2015 - cell.com
Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …
genotype and phenotype, making possible carrier and population screening and direct …
Phosphatidylinositol 3-kinase, growth disorders, and cancer
MD Goncalves, BD Hopkins… - New England Journal of …, 2018 - Mass Medical Soc
The Central Role of PI3K in Cell Signaling Phosphatidylinositol 3-kinase (PI3K) is involved
in multiple cell processes, including insulin signaling, cell growth, immunity, and brain …
in multiple cell processes, including insulin signaling, cell growth, immunity, and brain …
PI3K and cancer: lessons, challenges and opportunities
DA Fruman, C Rommel - Nature reviews Drug discovery, 2014 - nature.com
The central role of phosphoinositide 3-kinase (PI3K) activation in tumour cell biology has
prompted a sizeable effort to target PI3K and/or downstream kinases such as AKT and …
prompted a sizeable effort to target PI3K and/or downstream kinases such as AKT and …
[HTML][HTML] Induction of expansion and folding in human cerebral organoids
An expansion of the cerebral neocortex is thought to be the foundation for the unique
intellectual abilities of humans. It has been suggested that an increase in the proliferative …
intellectual abilities of humans. It has been suggested that an increase in the proliferative …