Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Gastroenteropancreatic neuroendocrine tumors

J Strosberg - The American Cancer Society's Oncology in …, 2018 - Wiley Online Library
Neuroendocrine tumors (NETs) are heterogeneous neoplasms that vary considerably based
on primary site, differentiation, and grade. A minority of NETs are characterized by the ability …

Interplay of somatic alterations and immune infiltration modulates response to PD-1 blockade in advanced clear cell renal cell carcinoma

DA Braun, Y Hou, Z Bakouny, M Ficial… - Nature medicine, 2020 - nature.com
PD-1 blockade has transformed the management of advanced clear cell renal cell
carcinoma (ccRCC), but the drivers and resistors of the PD-1 response remain incompletely …

Autophagy in malignant transformation and cancer progression

L Galluzzi, F Pietrocola, JM Bravo‐San Pedro… - The EMBO …, 2015 - embopress.org
Autophagy plays a key role in the maintenance of cellular homeostasis. In healthy cells,
such a homeostatic activity constitutes a robust barrier against malignant transformation …

Regulation of mTORC1 by PI3K signaling

CC Dibble, LC Cantley - Trends in cell biology, 2015 - cell.com
The class I phosphoinositide 3-kinase (PI3K)–mechanistic target of rapamycin (mTOR)
complex 1 (mTORC1) signaling network directs cellular metabolism and growth. Activation …

[HTML][HTML] Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

H Northrup, DA Krueger, S Roberds, K Smith… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is highly variable in clinical presentation and
findings. Disease manifestations continue to develop over the lifetime of an affected …

Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Regulation of mTORC1 by amino acids

L Bar-Peled, DM Sabatini - Trends in cell biology, 2014 - cell.com
The mechanistic target of rapamycin complex I (mTORC1) is a central regulator of cellular
and organismal growth, and hyperactivation of this pathway is implicated in the …

Molecular targets for cancer therapy in the PI3K/AKT/mTOR pathway

J Polivka Jr, F Janku - Pharmacology & therapeutics, 2014 - Elsevier
Aberrations in various cellular signaling pathways are instrumental in regulating cellular
metabolism, tumor development, growth, proliferation, metastasis and cytoskeletal …

[HTML][HTML] Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference

DA Krueger, H Northrup, S Roberds, K Smith… - Pediatric …, 2013 - Elsevier
Background Tuberous sclerosis complex is a genetic disorder affecting every organ system,
but disease manifestations vary significantly among affected individuals. The diverse and …