2018
Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome
Guemez‐Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki M, Saleem SN, Musaev D, McEvoy‐Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson‐Omay E, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas‐Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben‐Zeev B, Gunel M, Gleeson JG. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Annals Of Neurology 2018, 84: 638-647. PMID: 30178464, PMCID: PMC6510237, DOI: 10.1002/ana.25327.Peer-Reviewed Original ResearchMeSH KeywordsBrain StemCadherinsChildChild, PreschoolFemaleHumansInfantInfant, NewbornMaleMutationNervous System MalformationsProtocadherinsConceptsBrainstem malformationDysplasia syndromeEndothelial cellsBiallelic mutationsAutosomal recessive malformationSuch pathogenic variantsCharacteristic clinical presentationPatient-derived induced pluripotent stem cellsWhite matter tractsAnn NeurolAppendicular spasticityBrain calcificationClinical presentationPoor outcomeAxial hypotoniaPsychomotor disabilityProgressive microcephalyTract defectsPathogenic variantsPhenotypic spectrumPatientsCraniofacial dysmorphismBrain imagingNeural precursorsProtein expression
2016
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Li H, Bielas SL, Zaki MS, Ismail S, Farfara D, Um K, Rosti RO, Scott EC, Tu S, C. NC, Gabriel S, Erson-Omay EZ, Ercan-Sencicek AG, Yasuno K, Çağlayan AO, Kaymakçalan H, Ekici B, Bilguvar K, Gunel M, Gleeson JG. Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. American Journal Of Human Genetics 2016, 99: 501-510. PMID: 27453578, PMCID: PMC4974110, DOI: 10.1016/j.ajhg.2016.07.004.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsPrimary microcephalyHuman primary microcephalyAutosomal recessive primary microcephalyNon-progressive intellectual disabilityAmino acid residuesPluripotent stem cellsMitotic cytokinesisCellular functionsGenome editingCell divisionKinase domainAbnormal cytokinesisCRISPR/Homozygous missense mutationCytokinesisKinase activityMultipolar spindlesNeural progenitorsAcid residuesFunction mutationsMissense mutationsStem cellsMultiple rolesMutations