2019
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. BMC Nephrology 2019, 20: 271. PMID: 31315584, PMCID: PMC6637548, DOI: 10.1186/s12882-019-1458-z.Peer-Reviewed Case Reports and Technical NotesConceptsSteroid-resistant nephrotic syndromeNephrotic syndromeCase reportSignificant causeSyndromic featuresWhole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Journal Of The American Society Of Nephrology 2019, 30: 201-215. PMID: 30655312, PMCID: PMC6362619, DOI: 10.1681/asn.2018060575.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentBostonChildChild, PreschoolCohort StudiesExome SequencingFemaleGenetic Predisposition to DiseaseGenetic TestingGraft RejectionGraft SurvivalHospitals, PediatricHumansKidney TransplantationMalePrecision MedicinePrognosisRenal Insufficiency, ChronicRetrospective StudiesRisk AssessmentSeverity of Illness IndexSurvival AnalysisTransplant RecipientsTreatment OutcomeConceptsPediatric renal transplant recipientsWhole-exome sequencingKidney transplant recipientsRenal transplant recipientsTransplant recipientsDiagnostic yieldMolecular genetic diagnosisPediatric kidney transplant recipientsSteroid-resistant nephrotic syndromeGenetic causeBoston Children's HospitalUrinary stone diseasePrecision medicine approachYears of ageMolecular diagnosisGenetic diagnosisChronic glomerulonephritisTransplant patientsRelated donorsChildren's HospitalNephrotic syndromeKidney diseaseUnknown etiologyUrinary tractClinical management
2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome
Braun DA, Lovric S, Schapiro D, Schneider R, Marquez J, Asif M, Hussain MS, Daga A, Widmeier E, Rao J, Ashraf S, Tan W, Lusk CP, Kolb A, Jobst-Schwan T, Schmidt JM, Hoogstraten CA, Eddy K, Kitzler TM, Shril S, Moawia A, Schrage K, Khayyat AIA, Lawson JA, Gee HY, Warejko JK, Hermle T, Majmundar AJ, Hugo H, Budde B, Motameny S, Altmüller J, Noegel AA, Fathy HM, Gale DP, Waseem SS, Khan A, Kerecuk L, Hashmi S, Mohebbi N, Ettenger R, Serdaroğlu E, Alhasan KA, Hashem M, Goncalves S, Ariceta G, Ubetagoyena M, Antonin W, Baig SM, Alkuraya FS, Shen Q, Xu H, Antignac C, Lifton RP, Mane S, Nürnberg P, Khokha MK, Hildebrandt F. Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. Journal Of Clinical Investigation 2018, 128: 4313-4328. PMID: 30179222, PMCID: PMC6159964, DOI: 10.1172/jci98688.Peer-Reviewed Original ResearchConceptsNuclear pore complexSteroid-resistant nephrotic syndromeCRISPR/Cas9 knockoutOrgan-specific phenotypesNephrotic syndromeRing subunitsMorpholino knockdownEssential genesEnd-stage renal diseasePore complexNPC subunitsCoimmunoprecipitation experimentsAllelic effectsNUP85CRISPR/Nup107Hypomorphic mutationsNup133WT mRNAEarly lethalityGenesImportant effectorsSubunitsMutationsRenal disease
2017
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical Journal Of The American Society Of Nephrology 2017, 13: 53-62. PMID: 29127259, PMCID: PMC5753307, DOI: 10.2215/cjn.04120417.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge of OnsetChildChild, PreschoolDNA Mutational AnalysisExome SequencingFemaleGenetic Association StudiesGenetic MarkersGenetic Predisposition to DiseaseHeredityHumansInfantMaleMutationMutation RateNephrotic SyndromePedigreePhenotypePredictive Value of TestsPrognosisYoung AdultConceptsSteroid-resistant nephrotic syndromeNephrotic syndromeWhole-exome sequencingExome sequencingMonogenic causesResistant nephrotic syndromeManagement of treatmentYears of ageCongenital nephrotic syndromeAge of onsetCausative mutationsSyndrome geneKidney transplantationInternational cohortMonogenic genesMolecular genetic diagnosisSyndromePanel sequencingAbstractTextIdentification of mutationsNonconsanguineous familiesPatientsConsanguineous familyGenetic diagnosisDiagnosis