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
2013
miR-17∼92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease
Patel V, Williams D, Hajarnis S, Hunter R, Pontoglio M, Somlo S, Igarashi P. miR-17∼92 miRNA cluster promotes kidney cyst growth in polycystic kidney disease. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 10765-10770. PMID: 23759744, PMCID: PMC3696812, DOI: 10.1073/pnas.1301693110.Peer-Reviewed Original ResearchConceptsMiRNA clusterKidney cyst growthPolycystic kidney diseasePosttranscriptional gene expressionCyst growthOncogenic miRNA clusterShort noncoding RNAsKidney-specific inactivationKidney cyst formationDysregulated miRNA expressionPosttranscriptional repressionNoncoding RNAsHyperproliferative epithelial cellsGene dosageGene expressionHepatocyte nuclear factor-1βGenes PKD1Common genetic causeMiRNA expressionMouse modelFluid-filled cystsMiRNAsKidney diseaseTransgenic overexpressionKidney cysts