2013
Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length
Mis EK, Liem KF, Kong Y, Schwartz NB, Domowicz M, Weatherbee SD. Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length. Developmental Biology 2013, 385: 67-82. PMID: 24161523, PMCID: PMC3895954, DOI: 10.1016/j.ydbio.2013.10.014.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBase SequenceBone and BonesCell DifferentiationCell ProliferationChondrocytesDwarfismFibroblast Growth FactorsHedgehog ProteinsMiceMice, Inbred C57BLMice, TransgenicMutation, MissenseOsteogenesisParathyroid Hormone-Related ProteinPentosyltransferasesSequence Analysis, DNASignal TransductionConceptsChondrocyte maturationCartilage templateN-ethyl-N-nitrosourea (ENU) mutagenesis screenSkeletal precursor cellsWild-type embryosHigh-throughput sequencingHuman birth defectsProteoglycan core proteinMutagenesis screenSequence captureVertebrate bodySubcellular localizationProteoglycan functionCoordinated processMouse mutantsMutantsAbnormal bone developmentMissense mutationsCore proteinBone developmentSkeletal elementsPrecursor cellsDwarfismMaturationGAG chains
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