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 …

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies

KM Keppler‐Noreuil, VER Parker… - American Journal of …, 2016 - Wiley Online Library
The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

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 …

Differentiating the mTOR inhibitors everolimus and sirolimus in the treatment of tuberous sclerosis complex

JP MacKeigan, DA Krueger - Neuro-oncology, 2015 - academic.oup.com
Tuberous sclerosis complex (TSC) is a genetic autosomal dominant disorder characterized
by benign tumor-like lesions, called hamartomas, in multiple organ systems, including the …

Vascular anomalies: diagnosis of complicated anomalies and new medical treatment options

DM Adams, KW Ricci - Hematology/Oncology Clinics, 2019 - hemonc.theclinics.com
Vascular anomalies, characterized by the abnormal development or growth of blood and/or
lymphatic vessels, comprise a spectrum of diseases that have a wide range of complications …

Mosaic disorders of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway

N Nathan, KM Keppler-Noreuil… - Dermatologic …, 2017 - derm.theclinics.com
Mosaicism may occur as a somatic mutation occurring during embryogenesis, resulting in an
organism composed of 2 (or more) genetically distinct cell lineages. 1 The resulting …

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

WL Macken, M Tischkowitz… - American Journal of …, 2019 - Wiley Online Library
PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant
condition associated with intellectual disability, overgrowth, and tumor predisposition …

Resveratrol potentiates the anti-tumor effects of rapamycin in papillary thyroid cancer: PI3K/AKT/mTOR pathway involved

P Bian, W Hu, C Liu, L Li - Archives of Biochemistry and Biophysics, 2020 - Elsevier
Abstract The phosphatidylinositol 3-kinase (PI3K)/protein kinase B (AKT)/mammalian target
of rapamycin (mTOR) signaling pathway plays an important role in the development of …

Everolimus as adjunctive therapy for tuberous sclerosis complex-associated partial-onset seizures

L Lechuga, DN Franz - Expert review of neurotherapeutics, 2019 - Taylor & Francis
Introduction: Tuberous sclerosis complex (TSC) is a rare genetic disorder resulting in benign
tumors in various organs. It is caused by mutations in TSC1 or TSC2 genes causing …

PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guideline

M Plamper, B Gohlke, J Woelfle - Molecular and Cellular Pediatrics, 2022 - Springer
Background The PTEN hamartoma tumor syndrome (PHTS) encompasses several different
syndromes, which are linked to an autosomal-dominant mutation of the tumor suppressor …