Results 121 to 130 of about 1,575 (156)

Behavioral Profile in RASopathies

American Journal of Medical Genetics Part A, 2014
Here, we describe neurobehavioral features in patients with RASopathies (i.e., Noonan syndrome, LEOPARD syndrome, Costello syndrome, and cardiofaciocutaneous syndrome), developmental disorders caused by mutations in genes coding transducers participating in the RAS‐MAPK signaling cascade.
Alfieri, P, Piccini, G, Caciolo, C, Perrino, F, Gambardella, Ml, Mallardi, M, Cesarini, L, Leoni, C, Leone, D, Fossati, C, Selicorni, A, Digilio, Mc, Tartaglia, M, Mercuri, Eugenio Maria, Zampino, G, Vicari, S.   +15 more
openaire   +3 more sources

MEK inhibitors in RASopathies

Current Opinion in Oncology, 2020
Purpose of review An early understanding of the role of the Ras/Raf/MEK/ERK signalling pathway in regulating cell proliferation has set the stage for the development of several potent and selective MEK inhibitors (MEKi). MEKi represent promising therapies for RAS-driven neoplasias and RASopathies associated with increased Ras ...
Christina, Bergqvist, Pierre, Wolkenstein   +1 more
openaire   +2 more sources

Bone health in RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2022
AbstractThe RASopathies are a group of disorders due to pathogenic variants in genes involved in the Ras/MAPK pathway, many of which have overlapping clinical features (e.g., neurofibromatosis type 1, Costello syndrome, cardiofaciocutaneous syndrome and Noonan syndrome) including musculoskeletal manifestations.
David A. Stevenson, Germana Viscogliosi, Chiara Leoni   +2 more
openaire   +2 more sources

RASopathies for Radiologists

RadioGraphics
RASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central ...
Atsuhiko Handa, Yuko Tsujioka, Gen Nishimura, Taiki Nozaki, Tatsuo Kono, Masahiro Jinzaki, Taylor Harms, Susan A. Connolly, Takashi Shawn Sato, Yutaka Sato   +9 more
openaire   +2 more sources

The musculoskeletal phenotype of the RASopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2011
AbstractThe Ras/MAPK signal transduction pathway is critical for the regulation of proliferation and differentiation of multiple cell types. Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in the NF1 gene resulting in an increased Ras signaling cascade.
David A, Stevenson, Feng-Chun, Yang
openaire   +2 more sources

Peripheral muscle weakness in RASopathies

Muscle & Nerve, 2012
AbstractIntroduction: RASopathies are a group of genetic conditions due to alterations of the Ras/MAPK pathway. Neurocutaneous findings are hallmark features of the RASopathies, but musculoskeletal abnormalities are also frequent. The objective was to evaluate handgrip strength in the RASopathies.
David A, Stevenson, Shawn, Allen, William E, Tidyman, John C, Carey, David H, Viskochil, Austin, Stevens, Heather, Hanson, Xiaoming, Sheng, Brandi A, Thompson, Megumi J, Okumura, Kent, Reinker, Barbara, Johnson, Katherine A, Rauen   +12 more
openaire   +2 more sources

Pathogenesis of Growth Failure in Rasopathies.

Pediatric endocrinology reviews : PER, 2019
The RASopathies are a group of developmental genetic syndromes that are caused by germline mutations in genes encoding proteins of the Ras-Mitogen-Activated Protein kinase (RAS-MAPK) pathway. RASopathies include Noonan Syndrome (NS), Neurofibromatosis Type 1 (NF1), Noonan syndrome with multiple lentigines (NSML/LEOPARD), Costello syndrome (CS), Cardio ...
Sommayya, Aftab, Mehul T, Dattani
openaire   +2 more sources

The RASopathies

2017
The RASopathies are a group of developmental disorders caused by mutations in genes coding for components or modulators of the RAS/MAPK pathway. The pathway is known to be involved in a variety of physiological processes including differentiation, proliferation, survival, and apoptosis.
openaire   +1 more source

RASopathies

2021
Lisa M. Vincent, Karen W. Gripp, Heather Mason-Suares   +2 more
openaire   +1 more source

RASopathy-Associated Cardiac Hypertrophy

Journal of the American College of Cardiology, 2023
Ramin Garmany, Michael Ackerman
exaly