2025
Exome-sequencing of Turkish Families with Multiple Sclerosis: Low Frequency and Rare Variant Contributions into Susceptibility (P10-1.002)
Büyükgöl F, Gürdamar B, Bülbül A, Sezerman O, Everest E, Voyvoda U, Reda M, Çetin Ö, Tuncer M, Karaman B, Tasdelen B, Demir C, Boz C, Uzunköprü C, Uncu G, Gumus H, Efendi H, Yetkin M, Tecellioglu M, Seferoglu M, Kurtuncu M, Terzi M, Mutluer M, Yüceyar A, Turan Ö, Ethemoglu Ö, Karabudak R, Bunul S, Sen S, Demir S, Duman T, Gunduz T, Aluclu U, Beckmann Y, Bilguvar K, Gulec B, Tutuncu M, Uygunoglu U, Saip S, Siva A, Turanli E. Exome-sequencing of Turkish Families with Multiple Sclerosis: Low Frequency and Rare Variant Contributions into Susceptibility (P10-1.002). Neurology 2025, 104 DOI: 10.1212/wnl.0000000000210979.Peer-Reviewed Original ResearchEffects of essential tremor on longevity and mortality rates in families
Onat O, Ustunel F, Akbostanci C, Doganyigit K, Sen M, Gunaydin E, Bilguvar K, Akbostanci M. Effects of essential tremor on longevity and mortality rates in families. PLOS ONE 2025, 20: e0320422. PMID: 40193366, PMCID: PMC11975089, DOI: 10.1371/journal.pone.0320422.Peer-Reviewed Original ResearchConceptsHazard ratioET individualsReduced risk of mortalityAssociated with increased longevityRisk of mortalityEssential tremorMedian ageComprehensive statistical methodsReduced riskAging-related diseasesRegression modelsParticipantsMortality rateAnalyzed dataAction tremorNeurodegenerative disordersMovement disordersDeceased individualsExome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families
Büyükgöl F, Gürdamar B, Aluçlu M, Beckmann Y, Bilguvar K, Boz C, Bülbül A, Bünül S, Çetin Ö, Demir C, Demir S, Duman T, Efendi H, Ekmekçi Ö, Ertetik U, Ethemoğlu Ö, Everest E, Gümüş H, Gündüz T, Karabudak R, Karaman B, Kürtüncü M, Mutluer M, Reda M, Saip S, Seferoğlu M, Sever E, Sezerman O, Şen S, Taşdelen B, Tecellioğlu M, Terzi M, Tuncer A, Turan Ö, Tütüncü M, Uncu G, Uygunoğlu U, Uzunköprü C, Voyvoda U, Yetkin M, Yüceyar N, Siva A, Turanlı E. Exome sequencing reveals low-frequency and rare variant contributions to multiple sclerosis susceptibility in Turkish families. Scientific Reports 2025, 15: 11682. PMID: 40188234, PMCID: PMC11972333, DOI: 10.1038/s41598-025-94691-x.Peer-Reviewed Original ResearchConceptsSegregation analysisExome sequencingGene-based burden testsGene-based burden analysisRare coding variantsVariants associated with MSWhole-exome sequencingPathway enrichment analysisMultiplex MS familiesHuman leukocyte antigen lociContribution of low-frequencyAdmixed populationsBurden testsHemidesmosome assemblyMultiple sclerosis susceptibilityAllele frequenciesAntigen lociEnrichment analysisBurden analysisMS familiesGenesTurkish familyExtracellular matrixProgressive neurodegenerationITPR1 geneGenomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Sierant M, Jin S, Bilguvar K, Morton S, Dong W, Jiang W, Lu Z, Li B, López-Giráldez F, Tikhonova I, Zeng X, Lu Q, Choi J, Zhang J, Nelson-Williams C, Knight J, Zhao H, Cao J, Mane S, Sedore S, Gruber P, Lek M, Goldmuntz E, Deanfield J, Giardini A, Mital S, Russell M, Gaynor J, King E, Wagner M, Srivastava D, Shen Y, Bernstein D, Porter G, Newburger J, Seidman J, Roberts A, Yandell M, Yost H, Tristani-Firouzi M, Kim R, Chung W, Gelb B, Seidman C, Brueckner M, Lifton R. Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes. Proceedings Of The National Academy Of Sciences Of The United States Of America 2025, 122: e2420343122. PMID: 40127276, PMCID: PMC12002227, DOI: 10.1073/pnas.2420343122.Peer-Reviewed Original ResearchConceptsCongenital heart disease genesCongenital heart diseaseDamaging variantsMissense variantsAnalyzing de novo mutationsCHD probandsEpidermal growth factor (EGF)-like domainsNeurodevelopmental delayLoss of function variantsParent-offspring triosSyndromic congenital heart diseaseHeart disease genesDisease genesGenomic analysisCongenital heart disease subtypesAssociated with neurodevelopmental delayTetralogy of FallotFunctional variantsIncomplete penetranceCHD phenotypesGenesAssociated with developmentGenetic testingMolecular diagnosticsExtracardiac abnormalitiesSpreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache
Kaya Z, Belder N, Sever-Bahçekapılı M, Erdener Ş, Dönmez-Demir B, Bağcı C, Köroğlu M, Bilguvar K, Dalkara T. Spreading depolarization triggers pro- and anti-inflammatory signalling: a potential link to headache. Brain 2025, awaf015. PMID: 39823578, DOI: 10.1093/brain/awaf015.Peer-Reviewed Original ResearchCortical spreading depolarizationCaspase-1 activationPost-CSDInflammatory signalingCell-specific transcriptomic dataMigraine headacheHMGB1 releaseCell-specific transcriptomesCaspase-1Inflammatory responseCell-specific activityUpregulation of genesPro-inflammatory transcriptsTranscriptome dataPro-inflammatory stimuliResolution of inflammationCo-immunoprecipitationTranscriptome analysisTranscriptomic responseFRET analysisCNS cell typesAnti-inflammatory responseAnti-inflammatory signalsAnti-inflammatory profileTranscriptional changesA Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization
Koroglu M, Bilguvar K. A Comprehensive Bioinformatics Approach to Analysis of Variants: Variant Calling, Annotation, and Prioritization. Methods In Molecular Biology 2025, 2889: 207-233. PMID: 39745615, DOI: 10.1007/978-1-0716-4322-8_15.Peer-Reviewed Original ResearchConceptsGenomic dataHigh-throughput sequencing technologyGenomic data analysisField of genomicsNext-generation sequencingVariant callingNGS technologiesSequencing technologiesBioinformatics approachComprehensive computational approachSequenceComputational approachCancer researchGenomeTranscriptomeBioinformaticsNGSProteomicsNext-generationDNARNAEfficient sequenceAnnotationVariantsFragmentsDysregulation of mTOR signalling is a converging mechanism in lissencephaly
Zhang C, Liang D, Ercan-Sencicek A, Bulut A, Cortes J, Cheng I, Henegariu O, Nishimura S, Wang X, Peksen A, Takeo Y, Caglar C, Lam T, Koroglu M, Narayanan A, Lopez-Giraldez F, Miyagishima D, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay E, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan A, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Dysregulation of mTOR signalling is a converging mechanism in lissencephaly. Nature 2025, 638: 172-181. PMID: 39743596, PMCID: PMC11798849, DOI: 10.1038/s41586-024-08341-9.Peer-Reviewed Original ResearchP53-induced death domain protein 1Miller-Dieker lissencephaly syndromeMolecular mechanismsDysregulation of protein translationDysregulation of mTOR signalingDomain protein 1Activity of mTOR complexesMTOR pathwayRelevant molecular mechanismsProtein translationHuman lissencephalyClinically relevant molecular mechanismsRecessive mutationsRare mutationsMiller-DiekerGene expressionCerebral cortex developmentMTOR complexesSpectrum disorderMolecular defectsMTOR signalingCongenital brain malformationsProtein 1GeneticsAssociated with epilepsy
2024
Novel PIBF1 Pathogenic Variant in Three Siblings with Joubert Syndrome Type 33
Aynekin B, Samur B, 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, 1-10. 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 failureExploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants
Celebiler H, Barak T, K. D, Kaya I, Erbilgin S, Uytun M, Oztop D, Gumus H, Per H, Ceylaner S, Bozkurt I, Kontaridis M, Bilguvar K, Akhun N, Kilincaslan A, Caglayan A, Erson-Omay E, Gunel M, Ercan-Sencicek A. Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants. Molecular Syndromology 2024, 1-12. DOI: 10.1159/000542367.Peer-Reviewed Original ResearchWhole-exome sequencingStandard Sanger sequencingMucopolysaccharidosis type IIIBExome sequencingProgressive neurodegenerative disorderConsanguineous familySanger sequencingNAGLU genePhenotypic characteristicsMagnetic resonance imagingEnzymatic assayNeurodegenerative disordersAffected individualsLoss of activityNeurodegenerative symptomsAutosomal recessive lysosomal disorderCellular mechanismsVariantsLysosomal disorderEnzymeNormal MRI findingsSequenceMPS IIIBMRI findingsType IIIBRapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey
Yilmaz B, Akgun-Dogan O, Ozdemir O, Yuksel B, Ng O, Bilguvar K, Ay B, Ozkose G, Aydin E, Yigit A, Bulut A, Esen F, Beken S, Aktas S, Demirel A, Arcagok B, Kazanci E, Bingol Ä°, Umur O, Sik G, Isik U, Ersoy M, Korkmaz A, Citak A, Mardinoglu A, Ozbek U, Alanay Y. Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey. Frontiers In Pediatrics 2024, 12: 1412880. PMID: 39026936, PMCID: PMC11254770, DOI: 10.3389/fped.2024.1412880.Peer-Reviewed Original ResearchRapid genome sequencingHospital settingReducing unnecessary interventionsImprove patient careCost-effective approach to diagnosisTurkish healthcare systemClinical managementNext-generation sequencingPatient careHealthcare systemCritically ill infantsInclusion criteriaPediatric ICU patientsDelivery of resultsInfant morbidityMendelian conditionsDiagnostic odysseyApproach to diagnosisGenetic conditionsPilot studyUnnecessary interventionsTen infantsGenome sequenceDiagnostic yieldCongenital abnormalities
2023
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility
Hwang J, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton R, Ahmad W, Zhang K, Chung J. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. ELife 2023, 12: rp90095. PMID: 38091523, PMCID: PMC10721216, DOI: 10.7554/elife.90095.Peer-Reviewed Original ResearchLRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility
Hwang J, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton R, Ahmad W, Zhang K, Chung J. LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility. ELife 2023, 12 DOI: 10.7554/elife.90095.3.Peer-Reviewed Original ResearchSuper-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas
Youngblood M, Erson-Omay Z, Li C, Najem H, Coșkun S, Tyrtova E, Montejo J, Miyagishima D, Barak T, Nishimura S, Harmancı A, Clark V, Duran D, Huttner A, Avşar T, Bayri Y, Schramm J, Boetto J, Peyre M, Riche M, Goldbrunner R, Amankulor N, Louvi A, Bilgüvar K, Pamir M, Özduman K, Kilic T, Knight J, Simon M, Horbinski C, Kalamarides M, Timmer M, Heimberger A, Mishra-Gorur K, Moliterno J, Yasuno K, Günel M. Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas. Nature Communications 2023, 14: 6279. PMID: 37805627, PMCID: PMC10560290, DOI: 10.1038/s41467-023-41926-y.Peer-Reviewed Original ResearchTRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
Almousa H, Lewis S, Bakhtiari S, Nordlie S, Pagnozzi A, Magee H, Efthymiou S, Heim J, Cornejo P, Zaki M, Anwar N, Maqbool S, Rahman F, Neilson D, Vemuri A, Jin S, Yang X, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel A, Tomoum H, Shata M, Hashem M, Toosi M, Karimiani E, YeĹźil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent J, Innes A, Dursun A, Ă–zgĂĽl R, Akar H, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat L, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer M. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain 2023, 147: 311-324. PMID: 37713627, PMCID: PMC10766242, DOI: 10.1093/brain/awad301.Peer-Reviewed Original ResearchToward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome Sequencing
Erdogan O, Özkaya Ş, Erzik C, Bilguvar K, Arga K, Bayraklı F. Toward Precision Oncology in Glioblastoma with a Personalized Cancer Genome Reporting Tool and Genetic Changes Identified by Whole Exome Sequencing. OMICS A Journal Of Integrative Biology 2023, 27: 426-433. PMID: 37669106, DOI: 10.1089/omi.2023.0117.Peer-Reviewed Original ResearchConceptsTreatment optionsWhole-exome sequencingPrecision/personalized medicineExome sequencingLimited treatment optionsGenetic alterationsPersonalized medicinePotential therapeutic targetAggressive brain tumorTumor tissue samplesPoor prognosisGBM patientsTargetable pathwaysBrain tumorsTherapeutic targetLarger studyMolecular findingsNeurosurgical oncologyGenomic profilingPatientsPersonalized therapyMolecular profilingAkt/GlioblastomaPrecision oncologyPleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease
Mishra-Gorur K, Barak T, Kaulen L, Henegariu O, Jin S, Aguilera S, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, K. D, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek A, Bilguvar K, Lifton R, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2023, 120: e2214997120. PMID: 37043537, PMCID: PMC10120005, DOI: 10.1073/pnas.2214997120.Peer-Reviewed Original ResearchConceptsWild-type proteinInherited mutationsCardiac outflow tractDevelopmental heart defectsProtein functionLack ciliaPleiotropic rolesMechanistic convergenceNeural crestCiliary defectsSomatic variantsForebrain meningesCommon originDominant mannerMutationsTRAF7ZebrafishMutantsDisparate pathologiesHeterodimerizationKnockdownGeneticsProteinCiliaCongenital heart169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation
Mekbib K, Zhao S, Nelson-Williams C, Prendergast A, Zeng X, Rolle M, Shohfi J, Smith H, Ocken J, Moyer Q, Piwowarczyk P, Allington G, Dong W, van der Ent M, Chen D, Li B, Duran D, Mane S, Walcott B, Stapleton C, Aagaard-Kienitz B, Rodesch G, Jackson E, Smith E, Orbach D, Berenstein A, Bilguvar K, Zhao H, Erson-Omay Z, King P, Huttner A, Lifton R, Boggon T, Nicoli S, Jin S, Kahle K. 169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation. Neurosurgery 2023, 69: 22-22. DOI: 10.1227/neu.0000000000002375_169.Peer-Reviewed Original ResearchPathway analysisP120 Ras-GAPExome sequencingSevere vascular defectsGalen aneurysmal malformationReceptor tyrosine kinase activityTyrosine kinase activityDamaging de novoMutant embryosRas-GAPSignaling networksGenetic regulationRas activationAneurysmal malformationZebrafish modelDe novo mutationsKinase activityDisease genesAxon guidanceGenetic samplesWhole-exome sequencingHigh-output heart failureFunctional studiesCollected specimensSequencingInborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Lee D, Le Pen J, Yatim A, Dong B, Aquino Y, Ogishi M, Pescarmona R, Talouarn E, Rinchai D, Zhang P, Perret M, Liu Z, Jordan I, Bozdemir S, Bayhan G, Beaufils C, Bizien L, Bisiaux A, Lei W, Hasan M, Chen J, Gaughan C, Asthana A, Libri V, Luna J, JaffrĂ© F, Hoffmann H, Michailidis E, Moreews M, Seeleuthner Y, Bilguvar K, Mane S, Flores C, Zhang Y, Arias A, Bailey R, SchlĂĽter A, Milisavljevic B, Bigio B, Le Voyer T, Materna M, Gervais A, Moncada-Velez M, Pala F, Lazarov T, Levy R, Neehus A, Rosain J, Peel J, Chan Y, Morin M, Pino-Ramirez R, Belkaya S, Lorenzo L, Anton J, Delafontaine S, Toubiana J, Bajolle F, FumadĂł V, DeDiego M, Fidouh N, Rozenberg F, PĂ©rez-Tur J, Chen S, Evans T, Geissmann F, Lebon P, Weiss S, Bonnet D, Duval X, Pan-Hammarström Q, Planas A, Meyts I, Haerynck F, Pujol A, Sancho-Shimizu V, Dalgard C, Bustamante J, Puel A, Boisson-Dupuis S, Boisson B, Maniatis T, Zhang Q, Bastard P, Notarangelo L, BĂ©ziat V, de Diego R, Rodriguez-Gallego C, Su H, Lifton R, Jouanguy E, Cobat A, Alsina L, Keles S, Haddad E, Abel L, Belot A, Quintana-Murci L, Rice C, Silverman R, Zhang S, Casanova J, Alavoine L, Behillil S, Burdet C, Charpentier C, Dechanet A, Descamps D, Duval X, Ecobichon J, Enouf V, Frezouls W, Houhou N, Kafif O, Lehacaut J, Letrou S, Lina B, Lucet J, Manchon P, Nouroudine M, Piquard V, Quintin C, Thy M, Tubiana S, van der Werf S, Vignali V, Visseaux B, Yazdanpanah Y, Chahine A, Waucquier N, Migaud M, Deplanque D, Djossou F, Mergeay-Fabre M, Lucarelli A, Demar M, Bruneau L, GĂ©rardin P, Maillot A, Payet C, Laviolle B, Laine F, Paris C, Desille-Dugast M, Fouchard J, Malvy D, Nguyen D, Pistone T, Perreau P, Gissot V, Le Goas C, Montagne S, Richard L, Chirouze C, Bouiller K, Desmarets M, Meunier A, Lefèvre B, Jeulin H, Legrand K, Lomazzi S, Tardy B, Gagneux-Brunon A, Bertholon F, Botelho-Nevers E, Christelle K, Nicolas L, Roufai L, Amat K, Couffin-Cadiergues S, EspĂ©rou H, Hendou S, Abel L, Abolhassani H, Aguilera-Albesa S, Aiuti A, Akcan O, Akcay N, Alkan G, Alkhater S, Allende L, Alper Y, Amenzoui N, Anderson M, Arkin L, Aubart M, Avramenko I, Aydemir Ĺž, Aydin Z, Aytekin C, Aytekin G, Aytekin S, Bando S, Beland K, Belkaya S, Biggs C, Aburto A, Blanchard-Rohner G, Blázquez-Gamero D, Bloomfield M, Bogunovic D, Bondarenko A, Borghesi A, Bousfiha A, Boyarchuk O, Brodin P, Bryceson Y, Bucciol G, Calcaterra V, Casari G, Cavalcanti A, Celik J, Chrousos G, Colobran R, Condino-Neto A, Conti F, Cooper M, Coskuner T, Cyrus C, D’Auria E, Delafontaine S, Drolet B, Duramaz B, Zein L, Elnagdy M, Emiroglu M, Erdeniz E, Fabi M, Feldman H, Fellay J, Fencl F, Filippatos F, Freiss J, Fremuth J, Gagro A, Garcia-Solis B, Vergine G, González-Montelongo R, Gul Y, GĂĽlhan B, Gultekin S, Gut M, Halwani R, Hammarström L, HatipoÄźlu N, Heath J, Henrickson S, Hernandez-Brito E, Hoffman I, Hoste L, Hsieh E, Íñigo-Campos A, Itan Y, Jabandziev P, Kandemir B, Kanık-YĂĽksek S, Kapakli H, Karbuz A, Kasapcopur O, Kechiche R, Demirkol Y, Kilic O, Hansen S, Klocperk A, Lau Y, Lebl J, Lorenzo-Salazar J, Lucas C, Maglorius M, Marque L, Medina Y, Melián A, Mentis A, Pato M, Michos A, Milner J, Mogensen T, Muñoz-Barrera A, Nepesov S, Neves J, Ng A, Ng L, Novelli A, Novelli G, Oz F, Ocejo-Viñals J, Okada S, Orbak Z, Kilic A, Ouair H, Ă–z Ĺž, Ă–zçelik T, Ă–zkan E, Parlakay A, Pato C, Paz-Artal E, Pelham S, Pellier I, Philippot Q, Planas-Serra L, Plassart S, Pokorna P, Polat M, Poli C, Prando C, Renia L, Rivière J, RodrĂguez-Palmero A, Roussel L, Rubio-Rodriguez L, Salifu M, Sasek L, Sasia L, Scherbina A, Schmitt E, Sediva A, Sevketoglu E, Slaba K, Slaby O, Sobh A, SolĂ©-Violán J, Soler-Palacin P, De Somer L, Sözeri B, Spaan A, Stepanovskiy Y, Tangye S, Tanir G, Tatsi E, Thorball C, Torun S, Turvey S, Uddin M, Uyar E, Valencia-Ramos J, Van Den Rym A, Vatansev H, de Vera M, Vermeulen F, Vinh D, Volokha A, von Bernuth H, Wouters C, YahĹźi A, Yarar V, Yesilbas O, Yıldız M, Zatz M, Zawadzki P, Zuccotti G, Zhang S, Casanova J. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children. Science 2023, 379: eabo3627. PMID: 36538032, PMCID: PMC10451000, DOI: 10.1126/science.abo3627.Peer-Reviewed Original ResearchConceptsOAS-RNase LInflammatory syndromeCytokine productionInflammatory cytokinesSARS-CoV-2-related multisystem inflammatory syndromeCytosolic double-stranded RNAMultisystem inflammatory syndromeRig-I deficiencySuppress cytokine productionPrimary myeloid cellsRNase LMonocytic cell lineAutosomal recessive deficiencyMyeloid cellsMononuclear phagocytesUnrelated childrenInborn errorsRecessive deficiencyDeficient cellsProtein deficiencyCOVID-19Cell linesCytokinesSyndromeDouble-stranded RNA
2022
Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
Tuysuz B, Alkaya D, Geyik F, Alaylıoğlu M, Kasap B, Kurugoğlu S, Akman Y, Vural M, Bilguvar K. Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes. Journal Of Medical Genetics 2022, 60: 819-826. PMID: 36543534, DOI: 10.1136/jmg-2022-108763.Peer-Reviewed Original ResearchConceptsOsteogenesis imperfectaWestern blot analysisPathogenic variantsFrameshift variantSkin fibroblast samplesExpression levelsInsulin-dependent Akt phosphorylationBlot analysisAutosomal recessive osteogenesis imperfectaWhole-exome sequencingMRNA expression levelsType 1 collagenBisphosphonate treatmentRecurrent fracturesClinical evaluationRecessive osteogenesis imperfectaCommon findingReal-time PCRMRNA expressionVertebral changesHeterogeneous groupAkt phosphorylationLong bonesBloodSkin fibroblastsSevere Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM
Tuysuz B, Department of Pediatric Genetics I, Sencicek A, Ozer E, Goc N, Yalcinkaya C, Bilguvar K, Department of Neurosurgery P, Department of Neurology I. Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM. Turkish Archives Of Pediatrics 2022, 57: 521-525. PMID: 35950747, PMCID: PMC9524456, DOI: 10.5152/turkarchpediatr.2022.22070.Peer-Reviewed Original ResearchWhole-exome sequencingL1 syndromeSevere phenotypeMissense mutationsHemizygous missense mutationClinical characteristicsDifferential diagnosisIndex patientsPatientsCarrier mothersPathogenic missense mutationsMale childrenL1CAM mutationsPathogenic variantsMild formHydrocephalusSpeech delaySyndromeExon 18Truncating mutationsGenetic etiologyIntellectual disabilityL1CAML1CAM geneFamily members
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