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 …

Dragging ras back in the ring

AG Stephen, D Esposito, RK Bagni, F McCormick - Cancer cell, 2014 - cell.com
Ras proteins play a major role in human cancers but have not yielded to therapeutic attack.
Ras-driven cancers are among the most difficult to treat and often excluded from therapies …

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

E Legius, L Messiaen, P Wolkenstein, P Pancza… - Genetics in …, 2021 - nature.com
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …

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 …

Neurofibromin structure, functions and regulation

M Bergoug, M Doudeau, F Godin, C Mosrin, B Vallée… - Cells, 2020 - mdpi.com
Neurofibromin is a large and multifunctional protein encoded by the tumor suppressor gene
NF1, mutations of which cause the tumor predisposition syndrome neurofibromatosis type 1 …

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

N Ratner, SJ Miller - Nature Reviews Cancer, 2015 - nature.com
Abstract Neurofibromatosis type 1 (NF1) is a common genetic disorder that predisposes
affected individuals to tumours. The NF1 gene encodes a RAS GTPase-activating protein …

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 …

MicroRNAs in development and disease

D Sayed, M Abdellatif - Physiological reviews, 2011 - journals.physiology.org
MicroRNAs (miRNAs) are a class of posttranscriptional regulators that have recently
introduced an additional level of intricacy to our understanding of gene regulation. There are …

Health supervision for children with neurofibromatosis type 1

DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets

F Newell, Y Kong, JS Wilmott, PA Johansson… - Nature …, 2019 - nature.com
Abstract Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited
due to the paucity of comprehensive mutation data on this rare tumor type. To better …