Aging and the rise of somatic cancer-associated mutations in normal tissues

RA Risques, SR Kennedy - PLoS genetics, 2018 - journals.plos.org
DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells
accumulate mutations during development and aging, generating cells with different …

HSF1: guardian of proteostasis in cancer

C Dai, SB Sampson - Trends in cell biology, 2016 - cell.com
Proteomic instability is causally related to human diseases. In guarding proteome stability,
the heat shock factor 1 (HSF1)-mediated proteotoxic stress response plays a pivotal role …

Structure–function analysis of the SHOC2–MRAS–PP1C holophosphatase complex

JJ Kwon, B Hajian, Y Bian, LC Young, AJ Amor… - Nature, 2022 - nature.com
Receptor tyrosine kinase (RTK)–RAS signalling through the downstream mitogen-activated
protein kinase (MAPK) cascade regulates cell proliferation and survival. The SHOC2–MRAS …

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

L Groesser, E Herschberger, A Ruetten… - Nature …, 2012 - nature.com
Nevus sebaceous is a common congenital cutaneous malformation. Affected individuals
may develop benign and malignant secondary tumors in the nevi during life …

Hypertrophic cardiomyopathy in RASopathies: diagnosis, clinical characteristics, prognostic implications, and management

M Lioncino, E Monda, F Verrillo… - Heart Failure …, 2021 - pmc.ncbi.nlm.nih.gov
RASopathies are a group of developmental multisystemic disorders caused by germline
mutations in genes encoding signal transducers and regulatory proteins functionally linked …

Hypertrophic cardiomyopathy in children: pathophysiology, diagnosis, and treatment of non-sarcomeric causes

E Monda, M Rubino, M Lioncino, F Di Fraia… - Frontiers in …, 2021 - frontiersin.org
Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left
ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare …

Cognitive dysfunctions in intellectual disabilities: the contributions of the Ras-MAPK and PI3K-AKT-mTOR pathways

SC Borrie, H Brems, E Legius… - Annual review of …, 2017 - annualreviews.org
The Ras-MAPK and PI3K-AKT-mTOR signaling cascades were originally identified as
cancer regulatory pathways but have now been demonstrated to be critical for synaptic …

The role of PI3Kγ in the immune system: new insights and translational implications

SM Lanahan, MP Wymann, CL Lucas - Nature Reviews Immunology, 2022 - nature.com
Over the past two decades, new insights have positioned phosphoinositide 3-kinase-γ
(PI3Kγ) as a context-dependent modulator of immunity and inflammation. Recent advances …

Costello syndrome: Clinical phenotype, genotype, and management guidelines

KW Gripp, LA Morse, M Axelrad… - American Journal of …, 2019 - Wiley Online Library
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS.
Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and …

Proliferation and differentiation deficits are a major convergence point for neurodevelopmental disorders

C Ernst - Trends in neurosciences, 2016 - cell.com
Several lines of evidence suggest that proliferation and differentiation in neural stem cells
(NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most …