2020
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Human Molecular Genetics 2020, 29: 1900-1921. PMID: 32196547, PMCID: PMC7372553, DOI: 10.1093/hmg/ddaa050.Peer-Reviewed Original ResearchConceptsCell-cell junctionsNovel protein-truncating variantsP120-catenin proteinProtein-truncating variantsNext-generation sequencingTranscriptional signalingP120-cateninCRISPR/Epithelial-mesenchymal transitionSubset of phenotypesDevelopmental roleLimb dysmorphologiesAdditional phenotypesHuman diseasesCTNND1Conditional deletionDe novoTruncating mutationsBlepharocheilodontic syndromeEpithelial integrityNovel truncating mutationCraniofacial dysmorphismPhenotypeCleft palateNeurodevelopmental disorders
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