The PI3K pathway in human disease

DA Fruman, H Chiu, BD Hopkins, S Bagrodia… - Cell, 2017 - cell.com
Phosphoinositide 3-kinase (PI3K) activity is stimulated by diverse oncogenes and growth
factor receptors, and elevated PI3K signaling is considered a hallmark of cancer. Many PI3K …

Tuberous sclerosis complex

EP Henske, S Jóźwiak, JC Kingswood… - Nature reviews Disease …, 2016 - nature.com
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

[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 …

Sex and gender differences in lung disease

P Silveyra, N Fuentes, DE Rodriguez Bauza - Lung Inflammation in Health …, 2021 - Springer
Sex differences in the anatomy and physiology of the respiratory system have been widely
reported. These intrinsic sex differences have also been shown to modulate the …

Official American Thoracic Society/Japanese Respiratory Society clinical practice guidelines: lymphangioleiomyomatosis diagnosis and management

FX McCormack, N Gupta, GR Finlay… - American journal of …, 2016 - atsjournals.org
Background: Lymphangioleiomyomatosis (LAM) is a rare cystic lung disease that primarily
affects women. The purpose of these guidelines is to provide recommendations for the …

Perfect match: mTOR inhibitors and tuberous sclerosis complex

C Luo, WR Ye, W Shi, P Yin, C Chen, YB He… - Orphanet journal of rare …, 2022 - Springer
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome that presents with
diverse and complex clinical features and involves multiple human systems. TSC-related …

Pneumothorax: classification and etiology

NC Huan, C Sidhu, R Thomas - Clinics in Chest Medicine, 2021 - chestmed.theclinics.com
Pneumothorax is a common clinical problem worldwide. 1 Pneumothorax is defined as
presence of air in the pleural cavity. It can develop secondary to diverse etiologies including …

Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment

Y Tang, DJ Kwiatkowski, EP Henske - Nature communications, 2022 - nature.com
Abstract mTORC1 is hyperactive in multiple cancer types,. Here, we performed integrative
analysis of single cell transcriptomic profiling, paired T cell receptor (TCR) sequencing, and …