2024
Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort
Patel P, Besse W, Gulati A, Shaw M, Blumenfeld J, Pei Y, Gitomer B, Perrone R, Caliskan Y, Park H, Yu A, Dahl N, Rahbari-Oskoui F, Somlo S, Watnick T. Genetic and Clinical Characterization of Patients with ADPKD and Intracranial Aneurysms: The PKD-VASC Cohort. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024pma0ae6c. DOI: 10.1681/asn.2024pma0ae6c.Peer-Reviewed Original ResearchRyanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD
Roy K, Gulati A, Gu J, Shaw M, Sun Z, Besse W, Watnick T, Somlo S. Ryanodine Receptor 3 (RYR3) as a Candidate Modifier of Aneurysm Formation in ADPKD. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024xfh9af06. DOI: 10.1681/asn.2024xfh9af06.Peer-Reviewed Original ResearchGenetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long K, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J. Genetic Analysis of Severe Polycystic Liver Disease in Japan. Kidney360 2024, 5: 1106-1115. PMID: 38689396, PMCID: PMC11371350, DOI: 10.34067/kid.0000000000000461.Peer-Reviewed Original ResearchSevere polycystic liver diseaseAutosomal dominant polycystic kidney diseaseDisease genesPolycystic liver diseasePKD2 patientsGenetic analysisWhole-exome sequencingSuspected pathogenic variantsLiver diseaseSpectrum of phenotypesPKD2 variantsExome sequencingAutosomal dominant polycystic kidney disease cohortPathogenic variantsPKD2PKD1Genetic etiologyDominant polycystic kidney diseaseGenesPolycystic kidney diseaseKidney cystsNo significant differenceKidney volumePLD patientsKidney disease
2023
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease
Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet M, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller R, Berg T, Patterson I, Griffiths W, Sayer J, Consortium G, Ambrose J, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred C, Brittain H, Caulfield M, Chan G, Elgar G, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard T, Jackson R, Jones L, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh S, Leong I, Lopez J, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need A, O’Donovan P, Odhams C, Patch C, Pereira M, Perez-Gil D, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott R, Siddiq A, Sieghart A, Smith S, Sosinsky A, Stuckey A, Tanguy M, Tavares A, Thomas E, Thompson S, Tucci A, Welland M, Williams E, Witkowska K, Wood S, Popp B, Torres V, Hogan M, Somlo S, Watnick T, Nevens F, Besse W, Gall E, Harris P, Drenth J, Halbritter J. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease. Gastroenterology 2023, 166: 902-914. PMID: 38101549, DOI: 10.1053/j.gastro.2023.12.007.Peer-Reviewed Original ResearchAutosomal dominant polycystic liver diseasePolycystic liver diseaseDisease-related hospitalizationsLiver diseaseLiver eventsPathogenic variantsPrimary clinical end pointCombination of female sexCohort of patientsClinical end pointsInternational multicenter cohortPrediction of disease progressionGenotype-phenotype correlationPrimary clinical endpointTotal liver volumeUnderlying genetic defectSymptomatic hepatomegalyDesign of randomized controlled trialsRandomized controlled trialsFemale patientsIndependent of sexMulticenter cohortFemale preponderanceRare conditionSymptomatic disease
2022
An update on ductal plate malformations and fibropolycystic diseases of the liver
Mirza H, Besse W, Somlo S, Weinreb J, Kenney B, Jain D. An update on ductal plate malformations and fibropolycystic diseases of the liver. Human Pathology 2022, 132: 102-113. PMID: 35777701, DOI: 10.1016/j.humpath.2022.06.022.Peer-Reviewed Original ResearchConceptsDuctal plate malformationLiver diseaseAdult polycystic liver diseaseAutosomal dominant polycystic kidneyFibropolycystic liver diseaseIsolated liver involvementCongenital hepatic fibrosisPolycystic liver diseaseVon Meyenburg complexesGenetic underpinningsMultiple clinical phenotypesFibropolycystic diseasePortal hypertensionCaroli's diseaseLiver involvementLiver cystsMeyenburg complexesHepatic fibrosisFibrocystic lesionsHepatocellular malignanciesCyst enlargementAbnormal organ developmentPolycystic kidneysAnimal modelsHepatocellular malignancy
2020
Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease.
Besse W, Roosendaal C, Tuccillo L, Roy SG, Gallagher AR, Somlo S. Adult Inactivation of the Recessive Polycystic Kidney Disease Gene Causes Polycystic Liver Disease. Kidney360 2020, 1: 1068-1076. PMID: 33554127, PMCID: PMC7861569, DOI: 10.34067/kid.0002522020.Peer-Reviewed Original ResearchConceptsAutosomal recessive polycystic kidney diseaseSomatic second-hit mutationsAutosomal dominant polycystic kidney diseaseSecond-hit mutationsPolycystic liver diseaseLiver phenotypePolycystic kidney diseaseBile duct homeostasisSecond hit mutationLiver cystsLiver diseaseKidney diseaseCyst formationGenetic interactionsPattern of inheritanceDisease genesRecessive polycystic kidney diseaseGermline inheritanceDominant polycystic kidney diseaseDuctal plate formationWeeks of ageRecessive genotypeSubset of adultsSomatic mutationsPlate formatLarge Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease
Wilson EM, Choi J, Torres VE, Somlo S, Besse W. Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease. Kidney International Reports 2020, 5: 727-731. PMID: 32405593, PMCID: PMC7210741, DOI: 10.1016/j.ekir.2020.01.009.Peer-Reviewed Original Research
2019
Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD
Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S. Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. Kidney International Reports 2019, 5: 103-108. PMID: 31922066, PMCID: PMC6943786, DOI: 10.1016/j.ekir.2019.09.004.Peer-Reviewed Original ResearchALG9 Mutation Carriers Develop Kidney and Liver Cysts
Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Center R, Torres VE, Somlo S, Mirshahi T. ALG9 Mutation Carriers Develop Kidney and Liver Cysts. Journal Of The American Society Of Nephrology 2019, 30: 2091-2102. PMID: 31395617, PMCID: PMC6830805, DOI: 10.1681/asn.2019030298.Peer-Reviewed Original ResearchConceptsProteins polycystin-1Autosomal dominant polycystic kidney diseaseDisease genesRare loss-of-function variantsN-glycan precursorsNovel disease genesLoss-of-function variantsEndoplasmic reticulum lumenLoss-of-function mutationsMonogenic kidney diseaseWhole-exome sequencingGenotype-phenotype correlationProtein biogenesisProtein maturationReticulum lumenPolycystin-1Endoplasmic reticulumGene productsPopulation-based cohortCell-based assaysPhenotypic characterizationPolycystic phenotypeMutation carrier stateDefective glycosylationDominant polycystic kidney disease
2018
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease
Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE, Group G, Group T, Disease T, Harris PC. Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease. American Journal Of Human Genetics 2018, 102: 832-844. PMID: 29706351, PMCID: PMC5986722, DOI: 10.1016/j.ajhg.2018.03.013.Peer-Reviewed Original ResearchConceptsWhole-exome sequencingEnd-stage renal diseaseAutosomal dominant polycystic kidney diseasePhenotypically similar familiesNext-generation sequencingDevelopment of kidney cystsCystic kidneysPolycystic kidney diseaseTargeted next-generation sequencingFrameshift changesInterstitial fibrosisKidney diseasePhenotypic hybridsMissense variantsMembrane proteinsTrafficking defectsADTKDEpisodes of goutLate-onset end-stage renal diseaseProgressive interstitial fibrosisAffected membersMultigenerational familiesCo-factorPhenotypic overlapPartial phenotypic overlapA noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family
Besse W, Choi J, Ahram D, Mane S, Sanna‐Cherchi S, Torres V, Somlo S. A noncoding variant in GANAB explains isolated polycystic liver disease (PCLD) in a large family. Human Mutation 2018, 39: 378-382. PMID: 29243290, PMCID: PMC5805583, DOI: 10.1002/humu.23383.Peer-Reviewed Original ResearchConceptsLoss-of-function variantsSequence analysis pipelineWhole-exome sequencing analysisExome sequencing dataExome sequencing analysisBase pair deletionSkipping of exonIsolated polycystic liver diseaseNoncoding variantsLinkage analysisDisease genesSequence dataGene discoveryMinigene assayLinkage disequilibriumCoding regionSNP genotypingSequence analysisGenomic evaluationPolycystic liver diseaseSplice donorIdentified mutationsMutation detectionPair deletionGANAB
2017
Isolated polycystic liver disease genes define effectors of polycystin-1 function
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Isolated polycystic liver disease genes define effectors of polycystin-1 function. Journal Of Clinical Investigation 2017, 127: 1772-1785. PMID: 28375157, PMCID: PMC5409105, DOI: 10.1172/jci90129.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnimalsCalcium-Binding ProteinsCell Line, TransformedCystsEndoplasmic ReticulumFemaleGenome-Wide Association StudyGlucosidasesGlucosyltransferasesHeterozygoteHumansIntracellular Signaling Peptides and ProteinsLiver DiseasesMaleMembrane ProteinsMiceMolecular ChaperonesMutationRNA-Binding ProteinsSEC Translocation ChannelsTRPP Cation ChannelsConceptsPolycystin-1 functionPolycystin-1Protein biogenesis pathwaysGenome-wide basisPolycystic liver diseaseLoss-of-function mutationsWhole-exome sequencingHeterozygous loss-of-function mutationsBiogenesis pathwayLoss of functionAdditional genesDisease genesGene productsCell line modelsCandidate genesExome sequencingEndoplasmic reticulumCausative genesFunction mutationsGenesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseSec63Defective maturationKidney cysts
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