2022
Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified
Karakaya C, Çil AP, Bilguvar K, Çakir T, Karalok MH, Karabacak RO, Caglayan AO. Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified. Journal Of Obstetrics And Gynaecology Research 2022, 48: 1202-1211. PMID: 35141985, PMCID: PMC9050819, DOI: 10.1111/jog.15187.Peer-Reviewed Original ResearchConceptsPolycystic ovary syndromeWhole-exome sequencingFurther functional studiesMissense variantsNew drug targetsGerm-line DNAWhole-exome sequencing dataThree-dimensional structurePolycystic ovary syndrome patientsFunctional predictionChemogenomic analysisCandidate proteinsSequencing dataBiological pathwaysDrug targetsFunctional studiesCandidate variantsSequencingPCOS familiesRotterdam criteriaOvary syndromeFBN3Syndrome patientsPathwayPCOS probands
2012
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion
Emre Onat O, Gulsuner S, Bilguvar K, Nazli Basak A, Topaloglu H, Tan M, Tan U, Gunel M, Ozcelik T. Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion. European Journal Of Human Genetics 2012, 21: 281-285. PMID: 22892528, PMCID: PMC3573203, DOI: 10.1038/ejhg.2012.170.Peer-Reviewed Original ResearchConceptsC-terminal transmembrane regionATPase domainNext-generation sequencingTransmembrane regionHomozygous regionsHomozygosity mappingAffected individualsATP8A2Novel missense variantChromosome 13q12Missense mutationsATP8A2 geneSegregation analysisConsanguineous familyMissense variantsUnrelated individualsMutationsMental retardationQuadrupedal locomotionGenesDysequilibrium syndromeSequencingTranslocationATPaseNovo