2024
Adamts1 and Cyst Expansion in Polycystic Kidney Disease.
Kakade V, Akman Z, Motrapu M, Cassini M, Xu L, Moeckel G, Somlo S, Cantley L. Adamts1 and Cyst Expansion in Polycystic Kidney Disease. Journal Of The American Society Of Nephrology 2024 PMID: 39514301, DOI: 10.1681/asn.0000000557.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseasePolycystic kidney diseaseKidney diseaseLoss of Pkd1Cyst growthInterstitial macrophage accumulationDominant polycystic kidney diseaseInterstitial mononuclear cellsReduced cyst growthDetectable phenotypeMembrane remodelingMotif 1Progressive cyst growthIsoforms of versicanSimultaneous deletionPKD2 geneTubular basement membraneDisintegrin and metalloproteinaseRNA sequencingBasement membrane remodelingPKD1Thrombospondin motifs 1Cystic enlargementMacrophage accumulationCystic dilatationGenetic 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
2013
Mechanoprotection by Polycystins Against Apoptosis is Mediated Through the Opening of Stretch‐Activated K2P Channels
Duprat F, Peyronnet R, Sharif‐Naeini R, Folgering J, Arhatte M, Jodar M, Boustany C, Gallian C, Tauc M, Duranton C, Rubera I, Lesage F, Pei Y, Peters D, Somlo S, Sachs F, Patel A, Honoré E. Mechanoprotection by Polycystins Against Apoptosis is Mediated Through the Opening of Stretch‐Activated K2P Channels. The FASEB Journal 2013, 27: 912.2-912.2. DOI: 10.1096/fasebj.27.1_supplement.912.2.Peer-Reviewed Original ResearchCell apoptosisTwo-pore KAutosomal dominant polycystic kidney diseaseRenal epithelial cellsTubular cell apoptosisPKD2 geneEpithelial cell proliferationK2P channelsCell proliferationMechanoprotectionPolycystinsApoptosisEpithelial cellsDominant polycystic kidney diseasePKD1Tubular epithelial cell proliferationPolycystic kidney diseaseFunctional relationshipMechanical stressUnresolved questionsCellsFondation de FranceKidney diseaseKidney failureGenes