2014
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, Mahmoud I, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG. Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders. Science 2014, 343: 506-511. PMID: 24482476, PMCID: PMC4157572, DOI: 10.1126/science.1247363.Peer-Reviewed Original ResearchConceptsHereditary spastic paraplegiaFurther candidate genesMotor neuron diseaseNeurodegenerative disordersGene discoveryHSP genesGenetic basisCandidate genesNetwork analysisNeuron diseaseCellular transportWhole-exome sequencingNeurodegenerative motor neuron diseaseProgressive age-dependent lossAge-dependent lossGenesMechanistic understandingMotor tract functionCommon neurodegenerative disorderFraction of casesTract functionGenetic diagnosisSpastic paraplegiaGlobal viewDisease
2011
Disease-associated DNA methylationin Inflammatory Bowel Disease subtypes Crohn's disease and Ulcerative Colitis
lin Z, Yu W, Chen X, Hegarty J, Faber P, Wang Y, Poritz L, Fan J, Koltun W. Disease-associated DNA methylationin Inflammatory Bowel Disease subtypes Crohn's disease and Ulcerative Colitis. Inflammatory Bowel Diseases 2011, 17: s78-s78. DOI: 10.1097/00054725-201112002-00257.Peer-Reviewed Original ResearchAberrant DNA methylationDNA methylationTranscriptional regulationNondiseased tissueTissue-specific DNA methylationDNA methylation eventsGene transcriptional regulationDisease-associated changesMethylation eventsCpG methylationIntron 5Protein processingDiseased tissuesColon tissuesGenetic variationGenomic DNAMethylation assayCell signalingEpigenetic alterationsCpGGenesCell adhesionFunctional studiesIntestinal biologyCellular transport
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