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 rolesMutationsA patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal Of Human Genetics 2016, 61: 395-403. PMID: 26740239, PMCID: PMC4880488, DOI: 10.1038/jhg.2015.160.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOApoptosisBiopsyChild, PreschoolCholesterol Ester Transfer ProteinsComputational BiologyConsanguinityDNA Copy Number VariationsDNA Mutational AnalysisExomeFemaleGene ExpressionGene Expression ProfilingGenetic Association StudiesGenotypeHigh-Throughput Nucleotide SequencingHomozygoteHumansMutation, MissensePhenotypeTranscriptome
2008
Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury
Akdemir O, Uçankale M, Karaoğlan A, Barut Ş, Sağmanligil A, Bilguvar K, Çirakoğlu B, Şahan E, Çolak A. Therapeutic efficacy of SJA6017, a calpain inhibitor, in rat spinal cord injury. Journal Of Clinical Neuroscience 2008, 15: 1130-1136. PMID: 18656362, DOI: 10.1016/j.jocn.2007.08.011.Peer-Reviewed Original ResearchConceptsSpinal cord injuryGroup 3 ratsCord injuryRat spinal cord injury modelGrading scaleRat spinal cord injurySpinal cord injury modelApoptotic cell deathSpinal cord traumaGroup 2 ratsFeasible therapeutic strategySpinal cord tissueWistar albino ratsNecrosis 24 hCell deathTarlov scoreModerate traumaCord traumaNeuroprotective effectsFunctional recoveryFunctional outcomeLimb functionNeurological performanceWidespread edemaInjury modelTherapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury
Akdemir O, Berksoy I, Karaoğlan A, Barut Ş, Bilguvar K, Çirakoğlu B, Şahan E, Çolak A. Therapeutic efficacy of Ac-DMQD-CHO, a caspase 3 inhibitor, for rat spinal cord injury. Journal Of Clinical Neuroscience 2008, 15: 672-678. PMID: 18378144, DOI: 10.1016/j.jocn.2007.06.014.Peer-Reviewed Original ResearchConceptsSpinal cord injuryCord injuryGroup 2Therapeutic efficacyRat spinal cord injuryDiffuse hemorrhagic necrosisSpinal cord traumaGroup 3 ratsPolymorphonuclear leukocyte infiltrationCaspase-3 inhibitorCord traumaFunctional recoveryLeukocyte infiltrationLight microscopy examinationHemorrhagic necrosisNeurologic performanceFunctional outcomeSpinal cordRat modelTraumatic injuryVascular thrombiTreatment responseGroup 3InjuryThoracic regionNeuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats
Karaoğlan A, Kaya E, Akdemir O, Sağmanligil A, Bilguvar K, Çirakoğlu B, Şahan E, Erdoğan N, Barut Ş, Çolak A. Neuroprotective effects of Ac.YVAD.cmk on experimental spinal cord injury in rats. World Neurosurgery 2008, 69: 561-567. PMID: 18262241, DOI: 10.1016/j.surneu.2007.03.041.Peer-Reviewed Original Research