2020
Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature
Gummadavelli A, Dinauer C, McGuone D, Vining EM, Erson-Omay EZ, Omay SB. Large-scale second-hit AIP deletion causing a pediatric growth hormone-secreting pituitary adenoma: Case report and review of literature. Journal Of Clinical Neuroscience 2020, 78: 420-422. PMID: 32336638, DOI: 10.1016/j.jocn.2020.04.103.Peer-Reviewed Original ResearchChildChromosomes, Human, Pair 11Germ-Line MutationGigantismGrowth Hormone-Secreting Pituitary AdenomaHeterozygoteHumansIntracellular Signaling Peptides and ProteinsMalePhenotypePituitary NeoplasmsSequence Deletion
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 ResearchMeSH KeywordsAllelesApoptosisCentrosomeChildChild, PreschoolCytokinesisFemaleGenes, RecessiveHumansInfant, NewbornIntracellular Signaling Peptides and ProteinsMaleMicrocephalyMitosisMutation, MissensePedigreeProtein Serine-Threonine KinasesConceptsInduced 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