2024
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Aynekin B, Samur B, Ozgul Gumus U, Bilguvar K, Gulec A, Efthymiou S, Gumus H, Caglayan A, Per H. Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33. Molecular Syndromology 2024, 1-14. DOI: 10.1159/000543107.Peer-Reviewed Original ResearchMolar tooth signRare autosomal recessive disorderOptic nerve atrophySevere renal diseaseAutosomal recessive disorderHomozygous nonsense mutationWhole-exome sequencingNerve atrophyRenal atrophyDisease-causing genesClinical spectrumClinical featuresDysmorphic featuresClinical manifestationsPhenotypic expansionDiagnostic awarenessHomozygous mutationJoubert syndromePathogenic variantsPatient's seizuresRecessive disorderRenal diseaseNonsense mutationDevelopmental delayKidney failure
2016
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder. Cell 2016, 167: 1481-1494.e18. PMID: 27912058, PMCID: PMC5554935, DOI: 10.1016/j.cell.2016.11.013.Peer-Reviewed Original ResearchConceptsBlood-brain barrierBrain barrierBrain amino acid profilesLarge neutral amino acid transporterAutism spectrum disorderAdult mutant miceBranched-chain amino acid (BCAA) catabolic pathwaySevere neurological abnormalitiesNeutral amino acid transporterIntracerebroventricular administrationNeurological syndromeNeurological abnormalitiesNeurological conditionsSpectrum disorderSLC7A5 geneMotor delayAmino acid transportAmino acid transportersMutant miceNormal levelsBrain functionHuman brain functionEndothelial cellsHomozygous mutationCauses of ASD
2014
Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up
Tüysüz B, Yılmaz S, Kasapçopur Ö, Erener-Ercan T, Ceyhun E, Bilguvar K, Günel M. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. Rheumatology International 2014, 34: 1539-1544. PMID: 24816859, DOI: 10.1007/s00296-014-3037-8.Peer-Reviewed Original ResearchConceptsRadiological findingsClinical findingsDigital clubbingHPGD geneYears of agePrimary hypertrophic osteoarthropathyMonths of ageHomozygous deletionPainful swellingHypertrophic osteoarthropathyInfantile periodPalmoplantar hyperkeratosisHand radiographsOssification defectsHomozygous mutationIntrafamilial variabilityLate childhoodAgePatientsClubbingMonthsFindingsSiblingsExon 3Years
2011
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG. The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis. American Journal Of Human Genetics 2011, 88: 523-535. PMID: 21529752, PMCID: PMC3146716, DOI: 10.1016/j.ajhg.2011.03.019.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell Cycle ProteinsCentrosomeCerebral CortexChild, PreschoolDNA Mutational AnalysisEpithelial CellsExonsFemaleGenetic LinkageHeLa CellsHomozygoteHumansInfantMaleMiceMicrocephalyMicrotubule-Associated ProteinsMutationNeural Stem CellsNeurogenesisNeuronsPhenotypePregnancyRNA, MessengerTransfectionConceptsCortical laminationPatient-derived cell linesDistinct homozygous mutationsProfound mental retardationCerebral cortexCerebral cortex neurogenesisMouse embryonic brainNeuron productionBrain scansPostmortem dataEmbryonic brainNeural precursorsHomozygous mutationNeuroepithelial cellsNeurogenesisPatient cellsMental retardationExtreme microcephalyAffected individualsEarly neurogenesisCell linesT mutationPakistani originBrainTurkish family