RAS proteins and their regulators in human disease
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 …
transduction. These switches are normally tightly controlled, but in RAS-related diseases …
Dragging ras back in the ring
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 …
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
Purpose By incorporating major developments in genetics, ophthalmology, dermatology,
and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to …
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 …
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 …
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 …
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 …
germline mutations in genes that encode components or regulators of the Ras/mitogen …
MicroRNAs in development and disease
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 …
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 …
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets
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 …
due to the paucity of comprehensive mutation data on this rare tumor type. To better …