2018
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect
Rauen K, Schoyer L, Schill L, Stronach B, Albeck J, Andresen B, Cavé H, Ellis M, Fruchtman S, Gelb B, Gibson C, Gripp K, Hefner E, Huang W, Itkin M, Kerr B, Linardic C, McMahon M, Oberlander B, Perlstein E, Ratner N, Rogers L, Schenck A, Shankar S, Shvartsman S, Stevenson D, Stites E, Stork P, Sun C, Therrien M, Ullian E, Widemann B, Yeh E, Zampino G, Zenker M, Timmer W, McCormick F. Proceedings of the fifth international RASopathies symposium: When development and cancer intersect. American Journal Of Medical Genetics Part A 2018, 176: 2924-2929. PMID: 30302932, PMCID: PMC6312476, DOI: 10.1002/ajmg.a.40632.Peer-Reviewed Original ResearchConceptsGerm line mutationsPredisposition to cancerSomatic malignancyOcular abnormalitiesCraniofacial dysmorphologyMalformation syndromePathogenetic etiologyRAS/mitogen-activated protein kinasePathogenetic mechanismsEffects of dysregulationSomatic cancersOncogenic pathwaysCancerPhenotypic featuresRASopathiesMAPK pathwayRas pathwayNormal functionEncode componentsProtein kinaseNeurocognitive issuesExcellent modelPathwayMalignancy
2004
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney
Sun Z, Amsterdam A, Pazour G, Cole D, Miller M, Hopkins N. A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development 2004, 131: 4085-4093. PMID: 15269167, DOI: 10.1242/dev.01240.Peer-Reviewed Original ResearchConceptsIntraflagellar transportCystic kidney diseaseCilia formationOver-proliferation of epithelial cellsHuman cystic kidney diseasesPolycystic kidney diseaseInsertional mutagenesis screenKidney cystsChlamydomonas genesCiliary assemblyPKD genesCilia genesMutagenesis screenGenetic screeningEncode componentsPrimary ciliaGenesOver-proliferationCystic kidneysCiliaEpithelial cellsGenetic illnessMultiple kidney cystsZebrafishZebrafish larvae
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