2016
Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation
Duran D, Jin SC, DeSpenza T, Nelson-Williams C, Cogal AG, Abrash EW, Harris PC, Lieske JC, Shimshak SJ, Mane S, Bilguvar K, DiLuna ML, Günel M, Lifton RP, Kahle KT. Digenic mutations of human OCRL paralogs in Dent’s disease type 2 associated with Chiari I malformation. Human Genome Variation 2016, 3: 16042. PMID: 28018608, PMCID: PMC5143364, DOI: 10.1038/hgv.2016.42.Peer-Reviewed Original ResearchDigenic mutationsPH domainPrimary ciliaDamaging missense mutationsGenetic supportINPP5BSilico analysisMutation impactOCRL1Amino acidsMissense mutationsParalogsBp deletionMutationsCiliogenesisExon 3Novel associationsAbove-average IQVariable presencePhosphatidylinositolPolyPhen2MetaSVMSequencingDeletionCilia
2014
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. European Journal Of Medical Genetics 2014, 58: 39-43. PMID: 25220016, PMCID: PMC4804755, DOI: 10.1016/j.ejmg.2014.08.008.Peer-Reviewed Original ResearchConceptsN-glycanase 1Proteasome-mediated degradationConserved enzymeFrame-shift mutationApparent intellectual disabilityBase pair deletionNeuromotor impairmentNovel homozygous frame-shift mutationHomozygous frame-shift mutationNeuronal cellsPair deletionAmyotrophic lateral sclerosisIntellectual disabilityMutationsProteinNeurological functionCorneal opacityNeurologic diseaseLateral sclerosisParkinson's diseaseProgressive lossDiseaseCytoplasmImpairmentDeletion
2009
A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group
Bayrakli F, Guney I, Bayri Y, Ercan-Sencicek AG, Ceyhan D, Cankaya T, Mason C, Bilguvar K, Bayrakli S, Mane SM, State MW, Gunel M. A novel heterozygous deletion within the 3’ region of the PAX6 gene causing isolated aniridia in a large family group. Journal Of Clinical Neuroscience 2009, 16: 1610-1614. PMID: 19793656, DOI: 10.1016/j.jocn.2009.03.022.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAniridiaChromosome AberrationsChromosomes, Human, Pair 11CytogeneticsEye ProteinsFamily HealthFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHomeodomain ProteinsHumansMagnetic Resonance ImagingMaleOligonucleotide Array Sequence AnalysisPaired Box Transcription FactorsPAX6 Transcription FactorRepressor ProteinsSequence DeletionTurkeyConceptsCopy number variationsPAX6 geneNumber variationsArray-based comparative genomic hybridizationBox gene 6Submicroscopic copy number variationsHuman genomeComparative genomic hybridizationCytogenetic variationRegulatory elementsChromosome 11p13Human diseasesGenesGene 6Causative genesGenomic hybridizationSubmicroscopic deletionHeterozygous deletionDeletionLarge family groupsComplete absenceMolecular diagnosisFamily groupsChromosomal abnormalitiesGenome