RAS proteins and their regulators in human disease

DK Simanshu, DV Nissley, F McCormick - Cell, 2017 - cell.com
RAS proteins are binary switches, cycling between ON and OFF states during signal
transduction. These switches are normally tightly controlled, but in RAS-related diseases …

The RASopathies: from pathogenetics to therapeutics

KE Hebron, ER Hernandez… - Disease models & …, 2022 - journals.biologists.com
The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Gene essentiality profiling reveals gene networks and synthetic lethal interactions with oncogenic Ras

T Wang, H Yu, NW Hughes, B Liu, A Kendirli, K Klein… - Cell, 2017 - cell.com
The genetic dependencies of human cancers widely vary. Here, we catalog this
heterogeneity and use it to identify functional gene interactions and genotype-dependent …

The rasopathies

KA Rauen - Annual review of genomics and human genetics, 2013 - annualreviews.org
The RASopathies are a clinically defined group of medical genetic syndromes caused by
germline mutations in genes that encode components or regulators of the Ras/mitogen …

Noonan syndrome

AE Roberts, JE Allanson, M Tartaglia, BD Gelb - The Lancet, 2013 - thelancet.com
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial
features, developmental delay, learning difficulties, short stature, congenital heart disease …

Recent advances in RASopathies

Y Aoki, T Niihori, S Inoue, Y Matsubara - Journal of human genetics, 2016 - nature.com
RASopathies or RAS/mitogen-activated protein kinase (MAPK) syndromes are a group of
phenotypically overlapping syndromes caused by germline mutations that encode …

Combinatorial strategies to target RAS-driven cancers

N Perurena, L Situ, K Cichowski - Nature Reviews Cancer, 2024 - nature.com
Although RAS was formerly considered undruggable, various agents that inhibit RAS or
specific RAS oncoproteins have now been developed. Indeed, the importance of directly …

Ras in cancer and developmental diseases

A Fernández-Medarde, E Santos - Genes & cancer, 2011 - journals.sagepub.com
Somatic, gain-of-function mutations in ras genes were the first specific genetic alterations
identified in human cancer about 3 decades ago. Studies during the last quarter century …

Short linear motifs: ubiquitous and functionally diverse protein interaction modules directing cell regulation

K Van Roey, B Uyar, RJ Weatheritt, H Dinkel… - Chemical …, 2014 - ACS Publications
The eukaryotic cell is a bustling collection of macromolecules acting cooperatively to
mediate the functions required for cell viability. Specific, context-dependent and tightly …

The RASopathy family: consequences of germline activation of the RAS/MAPK pathway

M Tajan, R Paccoud, S Branka, T Edouard… - Endocrine …, 2018 - academic.oup.com
Abstract Noonan syndrome [NS; Mendelian Inheritance in Men (MIM)# 163950] and related
syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD …