2018
Distinct adaptive mechanisms drive recovery from aneuploidy caused by loss of the Ulp2 SUMO protease
Ryu HY, López-Giráldez F, Knight J, Hwang SS, Renner C, Kreft SG, Hochstrasser M. Distinct adaptive mechanisms drive recovery from aneuploidy caused by loss of the Ulp2 SUMO protease. Nature Communications 2018, 9: 5417. PMID: 30575729, PMCID: PMC6303320, DOI: 10.1038/s41467-018-07836-0.Peer-Reviewed Original ResearchConceptsRibosome biogenesisSUMO modification pathwayUlp2 SUMO proteaseSmall nucleolar RNAsSUMO-specific proteasesSnoRNA genesCCR4 deadenylaseDistinct adaptive mechanismsRibosomal proteinsCellular evolutionChromosome INucleolar RNAsRibosome formationSUMO proteaseAdaptive advantageExtended passagingRapid adaptationLong-term adaptationBiogenesisAdaptive mechanismsMutationsProteaseAneuploidyDisomyRegulatory shiftMutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation
Duran D, Zeng X, Jin SC, Choi J, Nelson-Williams C, Yatsula B, Gaillard J, Furey CG, Lu Q, Timberlake AT, Dong W, Sorscher MA, Loring E, Klein J, Allocco A, Hunt A, Conine S, Karimy JK, Youngblood MW, Zhang J, DiLuna ML, Matouk CC, Mane S, Tikhonova IR, Castaldi C, López-Giráldez F, Knight J, Haider S, Soban M, Alper SL, Komiyama M, Ducruet AF, Zabramski JM, Dardik A, Walcott BP, Stapleton CJ, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith ER, Orbach DB, Berenstein A, Bilguvar K, Vikkula M, Gunel M, Lifton RP, Kahle KT. Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation. Neuron 2018, 101: 429-443.e4. PMID: 30578106, PMCID: PMC10292091, DOI: 10.1016/j.neuron.2018.11.041.Peer-Reviewed Original ResearchConceptsChromatin modifiersVascular developmentSpecification of arteriesDeep venous systemNormal vascular developmentParent-offspring triosSignaling GenesGalen malformationDamaging mutationsGenesMutationsEssential roleArterio-venous malformationsCutaneous vascular abnormalitiesNovo mutationsExome sequencingDisease biologyIncomplete penetranceVariable expressivityVascular abnormalitiesVenous systemMutation carriersArterial bloodMutation burdenClinical implications
2015
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, López-Giráldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi H, Vardarajan B, Ma L, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science 2015, 350: 1262-1266. PMID: 26785492, PMCID: PMC4890146, DOI: 10.1126/science.aac9396.Peer-Reviewed Original ResearchConceptsCongenital anomaliesNeurodevelopmental disabilitiesCongenital heart disease patientsDe novo mutationsExtracardiac congenital anomaliesImproved prognostic assessmentEarly therapeutic interventionHeart disease patientsCongenital heart diseaseNovo mutationsCHD patientsDisease patientsHeart diseasePrognostic assessmentCHD casesTherapeutic interventionsPatientsExome sequencingCHDParent-offspring triosMultiple mutationsGenetic contributionMutationsChromatin modificationsTranscriptional regulation