2013
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, Consortium 1, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics. Science 2013, 342: 1235587. PMID: 24092746, PMCID: PMC3947637, DOI: 10.1126/science.1235587.Peer-Reviewed Original Research
2012
Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling
Christopher KJ, Wang B, Kong Y, Weatherbee SD. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Developmental Biology 2012, 368: 382-392. PMID: 22698544, PMCID: PMC3402655, DOI: 10.1016/j.ydbio.2012.06.008.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBody PatterningCells, CulturedCiliaEmbryo, MammalianExtremitiesFemaleGene Expression Regulation, DevelopmentalHedgehog ProteinsIn Situ HybridizationKruppel-Like Transcription FactorsMaleMembrane ProteinsMiceMice, Inbred C3HMice, Inbred C57BLMice, Mutant StrainsMicroscopy, Electron, ScanningMolecular Sequence DataMutationNerve Tissue ProteinsNeural TubeSequence Homology, Amino AcidSignal TransductionZinc Finger Protein Gli2Zinc Finger Protein Gli3ConceptsCilia formationDistinct tissuesLeft-right patterning defectsForward genetic approachDevelopmental patterning eventsLeft-right specificationShh target genesNovel mutant allelesSonic hedgehog (Shh) signalingNeuronal cell typesEmbryonic patterningMutant phenotypeCilia mutantsDynamic organellesGli activatorPatterning defectsPatterning eventsRepressor formCilia biogenesisUnknown regulatorCilia formGenetic approachesSkeletal formationTarget genesTmem107