Regulating tumor suppressor genes: post-translational modifications

L Chen, S Liu, Y Tao - Signal transduction and targeted therapy, 2020 - nature.com
Tumor suppressor genes cooperate with each other in tumors. Three important tumor
suppressor proteins, retinoblastoma (Rb), p53, phosphatase, and tensin homolog deleted …

PI3K pathway defects leading to immunodeficiency and immune dysregulation

CJ Nunes-Santos, G Uzel, SD Rosenzweig - Journal of Allergy and Clinical …, 2019 - Elsevier
The phosphatidylinositol 3–kinase (PI3K) signaling pathway is involved in a broad range of
cellular processes, including growth, metabolism, differentiation, proliferation, motility, and …

The Clinical Spectrum of PTEN Mutations

L Yehia, E Keel, C Eng - Annual review of medicine, 2020 - annualreviews.org
PTEN is a tumor suppressor gene that classically dampens the PI3K/AKT/mTOR growth-
promoting signaling cascade. PTEN dysfunction causes dysregulation of this and other …

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

SC Jin, W Dong, AJ Kundishora, S Panchagnula… - Nature medicine, 2020 - nature.com
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a
disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with …

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

R Pilarski - Cancers, 2019 - mdpi.com
The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a
grouping of related genetic disorders that has been linked to germline mutations in the …

PTEN-opathies: from biological insights to evidence-based precision medicine

L Yehia, J Ngeow, C Eng - The Journal of clinical …, 2019 - Am Soc Clin Investig
The tumor suppressor phosphatase and tensin homolog (PTEN) classically counteracts the
PI3K/AKT/mTOR signaling cascade. Germline pathogenic PTEN mutations cause PTEN …

An integrated taxonomy for monogenic inflammatory bowel disease

C Bolton, CS Smillie, S Pandey, R Elmentaite, G Wei… - Gastroenterology, 2022 - Elsevier
Background & aims Monogenic forms of inflammatory bowel disease (IBD) illustrate the
essential roles of individual genes in pathways and networks safeguarding immune …

[HTML][HTML] Inborn errors of human B cell development, differentiation, and function

SG Tangye, T Nguyen, EK Deenick, VL Bryant… - Journal of Experimental …, 2023 - rupress.org
B cells develop from hematopoietic stem cells in the bone marrow. Once generated, they
serve multiple roles in immune regulation and host defense. However, their most important …

T lymphocytes and cytotoxic astrocyte blebs correlate across autism brains

MM DiStasio, I Nagakura, MJ Nadler… - Annals of …, 2019 - Wiley Online Library
Objective Autism spectrum disorder (ASD) affects 1 in 59 children, yet except for rare genetic
causes, the etiology in most ASD remains unknown. In the ASD brain, inflammatory cytokine …

PTEN expression by an oncolytic herpesvirus directs T-cell mediated tumor clearance

L Russell, J Swanner, AC Jaime-Ramirez… - Nature …, 2018 - nature.com
Engineered oncolytic viruses are used clinically to destroy cancer cells and have the ability
to boost anticancer immunity. Phosphatase and tensin homolog deleted on chromosome 10 …