2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart
2007
Subclassification of microsatellite-unstable tumors in colorectal cancer
Ahuja N, Baylin S. Subclassification of microsatellite-unstable tumors in colorectal cancer. Current Colorectal Cancer Reports 2007, 3: 212-219. DOI: 10.1007/s11888-007-0033-3.Peer-Reviewed Original ResearchHereditary nonpolyposis colorectal cancerSporadic colorectal cancerColorectal cancerMMR genes MLH1Nonpolyposis colorectal cancerK-ras mutationsBRAF V600E mutationMicrosatellite-unstable tumorsMismatch repair genesVillous adenomaPathologic differencesHNPCC tumorsInherited syndromeTumor typesPolyp pathwayMicrosatellite instabilityCancerGermline mutationsMMR genesGenes MLH1TumorsInherited mutationsRepair genesMutationsEpigenetic silencing
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