2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics 2020, 52: 1046-1056. PMID: 32989326, PMCID: PMC9148538, DOI: 10.1038/s41588-020-0695-1.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBeta CateninCerebral PalsyCyclin DCytoskeletonDrosophilaExomeExome SequencingExtracellular MatrixF-Box ProteinsFemaleFocal AdhesionsGenetic Predisposition to DiseaseGenome, HumanHumansMaleMutationNeuritesRhoB GTP-Binding ProteinRisk FactorsSequence Analysis, DNASignal TransductionTubulinTumor Suppressor ProteinsConceptsDamaging de novo mutationsCerebral palsyDe novo mutationsCerebral palsy casesRisk genesDamaging de novoNovo mutationsWhole-exome sequencingPalsy casesNeuromotor functionD levelsMonogenic etiologyCyclin D levelsNeuronal connectivityPalsyGene confer riskConfer riskRecessive variantsNeurodevelopmental disorder genesReverse genetic screenDisorder genesParent-offspring triosGenome-wide significanceGenomic factorsCytoskeleton pathway
2014
FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family
Gündüz A, Eken A, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Başak A, Ertan S. FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family. Parkinsonism & Related Disorders 2014, 20: 1253-1256. PMID: 25169713, DOI: 10.1016/j.parkreldis.2014.07.016.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChoreaF-Box ProteinsFemaleHeterozygoteHomozygoteHumansMaleMutationParkinsonian DisordersPedigreePhenotypeConceptsEarly-onset parkinsonismPostural instabilityIndex caseFBXO7 mutationsPallido-pyramidal syndromeTremor-dominant parkinsonismIntrafamilial phenotypic variationDiverse clinical phenotypesMild parkinsonismClinical spectrumSevere apathyAtypical featuresParkinsonismOnset parkinsonismClinical phenotypeConsanguineous parentsMonogenic causesChoreaExomic sequencingSpeech problemsElder sisterGenetic findingsKurdish originPatientsMaternal grandfather