Results 11 to 20 of about 394,130 (296)

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway. [PDF]

Endocrine Reviews, 2018
Noonan syndrome [NS; Mendelian Inheritance in Men (MIM) #163950] and related syndromes [Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome; MIM #151100), Noonan-like syndrome with loose anagen hair (MIM #607721), Costello syndrome
Mylène Tajan, Romain Paccoud, S. Branka, T. Edouard, A. Yart   +4 more
semanticscholar   +3 more sources

Aurora kinase A (AURKA) interaction with Wnt and Ras-MAPK signalling pathways in colorectal cancer

Scientific Reports, 2018
Hyperactivation of Wnt and Ras-MAPK signalling are common events in development of colorectal adenomas. Further progression from adenoma-to-carcinoma is frequently associated with 20q gain and overexpression of Aurora kinase A (AURKA).
Annika Jacobsen, Linda J. W. Bosch, Sanne R. Martens-de Kemp, Beatriz Carvalho, Anke H. Sillars-Hardebol, Richard J. Dobson, Emanuele de Rinaldis, Gerrit A. Meijer, Sanne Abeln, Jaap Heringa, Remond J. A. Fijneman, K. Anton Feenstra   +11 more
doaj   +2 more sources

Ras/MAPK Modifier Loci Revealed by eQTL in Caenorhabditis elegans

G3: Genes, Genomes, Genetics, 2017
The oncogenic Ras/MAPK pathway is evolutionarily conserved across metazoans. Yet, almost all our knowledge on this pathway comes from studies using single genetic backgrounds, whereas mutational effects can be highly background dependent.
Basten Snoek, Mark G Sterken, Alex Hajnal   +2 more
exaly   +3 more sources

Ras/MAPK signalling intensity defines subclonal fitness in a mouse model of hepatocellular carcinoma [PDF]

eLife, 2023
Quantitative differences in signal transduction are to date an understudied feature of tumour heterogeneity. The MAPK Erk pathway, which is activated in a large proportion of human tumours, is a prototypic example of distinct cell fates being driven by ...
Anthony Lozano, Francois-Régis Souche, Carine Chavey, Valérie Dardalhon, Christel Ramirez, Serena Vegna, Guillaume Desandre, Anaïs Riviere, Amal Zine El Aabidine, Philippe Fort, Leila Akkari, Urszula Hibner, Damien Grégoire   +12 more
doaj   +2 more sources

Nutritional vitamin B12 regulates RAS/MAPK-mediated cell fate decisions through one-carbon metabolism [PDF]

Nature Communications
Vitamin B12 is an essential nutritional co-factor for the folate and methionine cycles, which together constitute one-carbon metabolism. Here, we show that dietary uptake of vitamin B12 modulates cell fate decisions controlled by the conserved RAS/MAPK ...
Ana Cristina Laranjeira, Simon Berger, Tea Kohlbrenner, Nadja R. Greter, Alex Hajnal   +4 more
doaj   +2 more sources

Novel effects of Ras-MAPK pathogenic variants on the developing human brain and their link to gene expression and inhibition abilities [PDF]

Translational Psychiatry, 2023
The RASopathies are genetic syndromes associated with pathogenic variants causing dysregulation of the Ras/mitogen-activated protein kinase (Ras-MAPK) pathway, essential for brain development, and increased risk for neurodevelopmental disorders. Yet, the
Bhavana Rai, Paige E. Naylor, Monica Siqueiros-Sanchez, Max Wintermark, Mira M. Raman, Booil Jo, Allan L. Reiss, Tamar Green   +7 more
doaj   +2 more sources

The RASopathies: from pathogenetics to therapeutics

Disease Models & Mechanisms, 2022
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 neurofibromatosis type 1, Noonan syndrome, cardiofaciocutaneous syndrome, Costello ...
Katie E. Hebron, Edjay Ralph Hernandez, Marielle E. Yohe   +2 more
doaj   +1 more source

Defining RASopathy

Disease Models & Mechanisms, 2022
The term RASopathy was originally created to describe a phenotypically similar group of medical genetic syndromes caused by germline pathogenic variants in components of the RAS/mitogen-activated protein kinase (RAS/MAPK) pathway. In defining a RASopathy
Katherine A. Rauen
doaj   +1 more source

Clinical acquired resistance to KRASG12C inhibition through a novel KRAS switch-II pocket mutation and polyclonal alterations converging on RAS-MAPK reactivation

Cancer Discovery, 2021
Mutant-selective KRASG12C inhibitors, such as MRTX849 (adagrasib) and AMG 510 (sotorasib), have demonstrated efficacy in KRASG12C-mutant cancers including non-small cell lung cancer (NSCLC).
Noritaka Tanaka, Jessica J. Lin, Chendi Li, Meagan B. Ryan, Junbing Zhang, L. Kiedrowski, Alexa G Michel, M. U. Syed, Katerina A Fella, Mustafa Sakhi, I. Baiev, D. Juric, J. Gainor, S. Klempner, J. Lennerz, G. Siravegna, L. Bar-Peled, A. Hata, R. Heist, R. Corcoran   +19 more
semanticscholar   +1 more source

MEK inhibition causes BIM stabilization and increased sensitivity to BCL-2 family member inhibitors in RAS-MAPK-mutated neuroblastoma

Frontiers in Oncology, 2023
IntroductionMutations affecting the RAS-MAPK pathway occur frequently in relapsed neuroblastoma tumors and are associated with response to MEK inhibition in vitro.
Thomas F. Eleveld, Thomas F. Eleveld, Lindy Vernooij, Linda Schild, Bianca Koopmans, Lindy K. Alles, Marli E. Ebus, Rana Dandis, Harm van Tinteren, Huib N. Caron, Jan Koster, Max M. van Noesel, Godelieve A. M. Tytgat, Selma Eising, Rogier Versteeg, M. Emmy M. Dolman, M. Emmy M. Dolman, M. Emmy M. Dolman, Jan J. Molenaar, Jan J. Molenaar   +19 more
doaj   +1 more source