Attacking the PI3K/Akt/mTOR signaling pathway for targeted therapeutic treatment in human cancer
Cancer is the second leading cause of human death globally. PI3K/Akt/mTOR signaling is
one of the most frequently dysregulated signaling pathways observed in cancer patients that …
one of the most frequently dysregulated signaling pathways observed in cancer patients that …
AKT/PKB signaling: navigating the network
BD Manning, A Toker - Cell, 2017 - cell.com
The Ser and Thr kinase AKT, also known as protein kinase B (PKB), was discovered 25
years ago and has been the focus of tens of thousands of studies in diverse fields of biology …
years ago and has been the focus of tens of thousands of studies in diverse fields of biology …
Lymphatic malformations: genetics, mechanisms and therapeutic strategies
Lymphatic vessels maintain tissue fluid homeostasis by returning to blood circulation
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …
interstitial fluid that has extravasated from the blood capillaries. They provide a trafficking …
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 …
Molecular findings among patients referred for clinical whole-exome sequencing
Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …
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 …
[HTML][HTML] Molecular neurobiology of mTOR
K Switon, K Kotulska, A Janusz-Kaminska… - Neuroscience, 2017 - Elsevier
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that
controls several important aspects of mammalian cell function. mTOR activity is modulated …
controls several important aspects of mammalian cell function. mTOR activity is modulated …
Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …
New insights into the generation and role of de novo mutations in health and disease
Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …