2018
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutations
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