Results 81 to 90 of about 2,361 (178)

Different Ras isoforms regulate synaptic plasticity in opposite directions

The EMBO Journal
The small GTPase Ras is an intracellular signaling hub required for long-term potentiation (LTP) in the hippocampus and for memory formation. Genetic alterations in Ras signaling (i.e., RASopathies) are linked to cognitive disorders in humans.
Esperanza López-Merino, Alba Fernández-Rodrigo, Jessie G Jiang, Silvia Gutiérrez-Eisman, David Fernández de Sevilla, Alberto Fernández-Medarde, Eugenio Santos, Carmen Guerra, Mariano Barbacid, José A Esteban, Víctor Briz   +10 more
doaj   +1 more source

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome

Scientific Reports
Moyamoya vasculopathy secondary to various genetic disorders is classified as moyamoya syndrome (MMS). Recent studies indicate MMS occurs due to a combination of genetic modifiers and causative mutations for the primary genetic disorders.
Akikazu Nakamura, Shunsuke Nomura, Shoko Hara, Thiparpa Thamamongood, Taketoshi Maehara, Tadashi Nariai, Shasha Khairullah, Kay Sin Tan, Kenko Azuma, Ayako Chida‐Nagai, Yoshiyuki Furutani, Takahiro Hori, Koji Yamaguchi, Takakazu Kawamata, Constantin Roder, Hiroyuki Akagawa   +15 more
doaj   +1 more source

Developmental effect of RASopathy mutations on neuronal network activity on a chip

Frontiers in Cellular Neuroscience
RASopathies are a group of genetic disorders caused by mutations in genes encoding components and regulators of the RAS/MAPK signaling pathway, resulting in overactivation of signaling.
Eva-Maria Weiss, Debarpan Guhathakurta, Aneta Petrušková, Aneta Petrušková, Aneta Petrušková, Verena Hundrup, Martin Zenker, Anna Fejtová   +7 more
doaj   +1 more source

Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib

Life
The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse stimuli.
Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa   +6 more
doaj   +1 more source

The T1-Weighted/T2-Weighted Ratio as an In Vivo Proxy for Reduced Intracortical Myelin Content in Youth With RASopathies: A Cross-Sectional Study. [PDF]

Biol Psychiatry Cogn Neurosci Neuroimaging
Plank JR, Pardej SK, Raman MM, McNab J, Green T.   +4 more
europepmc   +1 more source

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment. [PDF]

Genet Med
Kim J, Ney G, Frone MN, Haley JS, Ramos MLF, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl RC, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR.   +17 more
europepmc   +1 more source

RASopathy

, 2017
Rohit Sharma, Jeremy Jones, Daniel Bell
openaire   +1 more source

Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype. [PDF]

Orphanet J Rare Dis
Leoni C, Viscogliosi G, Pajalunga D, Trevisan V, Mondelli L, Angeli ML, Gullì C, Tatti M, Perri L, Bellani I, Lentini N, Pastorino R, Kuczynska E, Gervasoni J, Romeo DMM, Pane M, Mercuri EM, Cecchetti S, Carpentieri G, Tartaglia M, Zampino G, Flex E.   +21 more
europepmc   +1 more source

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models

The Journal of Clinical Investigation
RAS/MAPK pathway mutations often induce RASopathies with overlapping features, such as craniofacial dysmorphology, cardiovascular defects, dermatologic abnormalities, and intellectual disabilities.
Minkyung Kang, Jihye Choi, Jeongho Han, Toshiyuki Araki, Soo-Whee Kim, Hyun-Hee Ryu, Min-Gyun Kim, Seoyeon Kim, Hanbyul Jang, Sun Yong Kim, Kyoung-Doo Hwang, Soobin Kim, Myeongjong Yoo, Jaegeon Lee, Kitae Kim, Pojeong Park, Ja Eun Choi, Dae Hee Han, Yujin Kim, Jeongyeon Kim, Sunghoe Chang, Bong-Kiun Kaang, Jung Min Ko, Keun-Ah Cheon, Joon-Yong An, Sang Jeong Kim, Hyungju Park, Benjamin G. Neel, Chul Hoon Kim, Yong-Seok Lee   +29 more
doaj   +1 more source

Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies. [PDF]

Genes (Basel)
Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF.   +7 more
europepmc   +1 more source