2024
Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives
Soyfer B, Fedeles S, Vanasco W, Perrone R, Liebau M, Hartung E, Dell K, Guay-Woodford L, Hoover E, Oberdhan D. Qualitative Analysis and Comparison of Externally Led, Patient-Focused Drug Development (EL-PFDD) Concepts for Autosomal Recessive Polycystic Kidney Disease (ARPKD) against Standardized Outcomes in Nephrology (SONG) Initiatives. Journal Of The American Society Of Nephrology 2024, 35: 10.1681/asn.2024fj4z3w71. DOI: 10.1681/asn.2024fj4z3w71.Peer-Reviewed Original ResearchAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseasePolycystic kidney diseaseDrug developmentKidney diseaseQualitative analysisPatient-focused drug development
2022
Polycystic Kidney Disease Drug Development: A Conference Report
Liebau M, Mekahli D, Perrone R, Soyfer B, Fedeles S. Polycystic Kidney Disease Drug Development: A Conference Report. Kidney Medicine 2022, 5: 100596. PMID: 36698747, PMCID: PMC9867973, DOI: 10.1016/j.xkme.2022.100596.Peer-Reviewed Original ResearchAutosomal dominant polycystic kidney diseasePolycystic kidney diseaseAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseaseKidney diseaseProgression of ADPKDSide effect profileChronic kidney failureDisease-modifying therapiesAutosomal dominant polycystic liver diseasePolycystic liver diseaseTotal kidney volumeDominant polycystic kidney diseaseCritical Path InstituteMechanism of actionCommon monogenic disorderDrug development toolsEffect profileLiver diseaseKidney failureOutcomes ConsortiumEnrichment biomarkerClinical trialsKidney volumeSurrogate endpoints
2021
Fibrocystic liver disease: novel concepts and translational perspectives
Lasagni A, Cadamuro M, Morana G, Fabris L, Strazzabosco M. Fibrocystic liver disease: novel concepts and translational perspectives. Translational Gastroenterology And Hepatology 2021, 6: 26-26. PMID: 33824930, PMCID: PMC7838530, DOI: 10.21037/tgh-2020-04.Peer-Reviewed Original ResearchFibrocystic liver diseaseAutosomal recessive polycystic kidney diseaseIntrahepatic bile ductsBile ductPeribiliary fibrosisLarge intrahepatic bile ductsSmall intrahepatic bile ductsBile duct dilationEmbryonic ductal plateTargeted medical therapyRenal function impairmentMain clinical manifestationsRecessive polycystic kidney diseaseSpectrum of disordersHepatic disease 1Polycystic kidney diseaseBiliary microhamartomasLiver transplantationPortal hypertensionRecurrent cholangitisBiliary changesBiliary cystsDuct dilationMedical therapySurgical treatment
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 formatLoss of Cilia Does Not Slow Liver Disease Progression in Mouse Models of Autosomal Recessive Polycystic Kidney Disease.
Gallagher AR, Somlo S. Loss of Cilia Does Not Slow Liver Disease Progression in Mouse Models of Autosomal Recessive Polycystic Kidney Disease. Kidney360 2020, 1: 962-968. PMID: 33829210, PMCID: PMC8023589, DOI: 10.34067/kid.0001022019.Peer-Reviewed Original ResearchConceptsAutosomal recessive polycystic kidney diseaseLiver disease progressionRecessive polycystic kidney diseasePolycystic kidney diseaseLoss of ciliaKidney diseaseDisease progressionMouse modelDiseaseProgression
2019
Fibrocystic Liver Disease
Cristoferi L, Morana G, Strazzabosco M, Fabris L. Fibrocystic Liver Disease. 2019, 201-218. DOI: 10.1007/978-3-319-96400-3_11.Peer-Reviewed Original ResearchHepatorenal fibrocystic diseaseCongenital hepatic fibrosisFibrocystic liver diseaseLiver diseaseCaroli's diseaseCholedochal cystEnd-stage liver diseaseBiliary duct dilationEmbryonic ductal plateAutosomal recessive polycystic kidney diseaseIntrahepatic bile ductsRecessive polycystic kidney diseasePolycystic kidney diseaseLiver transplantationDuct dilationHepatic involvementMultidisciplinary managementRenal diseaseMultiorgan involvementClinical manifestationsBile ductFibrocystic diseaseKidney diseaseBiliary treeHepatic fibrosis
2018
Fibropolycystic Liver Diseases and Congenital Biliary Abnormalities
Hadžić N, Strazzabosco M. Fibropolycystic Liver Diseases and Congenital Biliary Abnormalities. 2018, 308-327. DOI: 10.1002/9781119237662.ch16.Peer-Reviewed Original ResearchFibropolycystic liver diseaseLiver diseasePolycystic kidney diseaseKidney diseaseAutosomal recessive polycystic kidney diseaseAutosomal dominant polycystic kidney diseaseFibrotic liver diseasePolycystic liver diseaseRecessive polycystic kidney diseaseDominant polycystic kidney diseaseCongenital biliary abnormalitiesBiliary microhamartomasPathogenetic pointCholedochal cystBiliary tractBiliary abnormalitiesBile ductCystic lesionsRenal abnormalitiesClinical reasonsCongenital anomaliesLiver parenchymaDiseaseHeterogeneous groupAbnormalities
2014
Polycystin-1: a master regulator of intersecting cystic pathways
Fedeles SV, Gallagher AR, Somlo S. Polycystin-1: a master regulator of intersecting cystic pathways. Trends In Molecular Medicine 2014, 20: 251-260. PMID: 24491980, PMCID: PMC4008641, DOI: 10.1016/j.molmed.2014.01.004.Peer-Reviewed Original ResearchConceptsAutosomal dominant polycystic kidney diseaseAutosomal recessive polycystic kidney diseaseAutosomal dominant polycystic liver diseasePolycystic kidney diseaseKidney diseasePolycystic liver diseaseRecessive polycystic kidney diseaseDominant polycystic kidney diseaseLiver diseasePolycystic diseaseCyst growthLethal monogenic disorderCyst formationTranslational implicationsDiseaseMonogenic disordersCausative genesCystic phenotypeRecent dataPolycystin-1Polycystin-2Master regulator
2013
Protein kinase a‐dependent pSer675‐β‐catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis
Spirli C, Locatelli L, Morell CM, Fiorotto R, Morton SD, Cadamuro M, Fabris L, Strazzabosco M. Protein kinase a‐dependent pSer675‐β‐catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis. Hepatology 2013, 58: 1713-1723. PMID: 23744610, PMCID: PMC3800498, DOI: 10.1002/hep.26554.Peer-Reviewed Original ResearchConceptsAutosomal recessive polycystic kidney diseaseCongenital hepatic fibrosisCaroli's diseaseΒ-cateninHepatic fibrosisRac-1 inhibitionIntrahepatic bile ductsRecessive polycystic kidney diseasePotential therapeutic targetPolycystic kidney diseaseStimulation of cAMPRac-1 activityE-cadherin expressionBile ductKidney diseaseLiver pathologyCystic dysplasiaMouse modelTherapeutic targetTranscriptional activityNuclear translocationDiseasePKA blockerCholangiocytesFibrosis
2008
Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function
Kim I, Fu Y, Hui K, Moeckel G, Mai W, Li C, Liang D, Zhao P, Ma J, Chen XZ, George AL, Coffey RJ, Feng ZP, Wu G. Fibrocystin/Polyductin Modulates Renal Tubular Formation by Regulating Polycystin-2 Expression and Function. Journal Of The American Society Of Nephrology 2008, 19: 455-468. PMID: 18235088, PMCID: PMC2391052, DOI: 10.1681/asn.2007070770.Peer-Reviewed Original ResearchConceptsFibrocystin/polyductinPC2 channel activityRenal cystic phenotypeGene-targeted mutationPolycystic kidney diseaseCultured renal epithelial cellsAutosomal recessive polycystic kidney diseaseHuman autosomal recessive polycystic kidney diseaseCommon molecular pathwaysEpithelial cellsRecessive polycystic kidney diseaseRenal epithelial cellsAberrant ciliogenesisKidney diseasePolycystin-2Polycystin-2 expressionPrimary ciliaCystic phenotypeSingle mutationMolecular pathwaysGenetic modifiersPhenotypic characteristicsMutationsMolecular interactionsAutosomal dominant polycystic kidney diseaseBiliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1
Gallagher AR, Esquivel EL, Briere TS, Tian X, Mitobe M, Menezes LF, Markowitz GS, Jain D, Onuchic LF, Somlo S. Biliary and Pancreatic Dysgenesis in Mice Harboring a Mutation in Pkhd1. American Journal Of Pathology 2008, 172: 417-429. PMID: 18202188, PMCID: PMC2312372, DOI: 10.2353/ajpath.2008.070381.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBile DuctsBiliary TractBlotting, SouthernBlotting, WesternCiliaDisease Models, AnimalHumansImmunohistochemistryIn Situ HybridizationKidney Tubules, ProximalLiver DiseasesMiceMice, Mutant StrainsMutationPancreatic DiseasesPolycystic Kidney, Autosomal RecessiveReceptors, Cell SurfaceReverse Transcriptase Polymerase Chain ReactionConceptsPolycystic kidney diseaseAutosomal recessive polycystic kidney diseaseRecessive polycystic kidney diseaseKidney diseaseMouse modelCommon bile duct dilationBile duct dilationBile duct proliferationAutosomal dominant polycystic kidney diseaseProgressive cyst formationDistal nephron segmentsDominant polycystic kidney diseaseExtrahepatic manifestationsDuct dilationBiliary tractPeriportal fibrosisDuct proliferationBile ductFibrocystic diseaseOrthologous modelPancreatic cystsProximal tubulesMice harboringSusceptibility of tissuesNephron segments
2007
Segmental disorders of the nephron: histopathological and imaging perspective
Prasad S, Narra V, Shah R, Humphrey P, Jagirdar J, Catena J, Dalrymple N, Siegel C. Segmental disorders of the nephron: histopathological and imaging perspective. British Journal Of Radiology 2007, 80: 593-602. PMID: 17621606, DOI: 10.1259/bjr/20129205.Peer-Reviewed Original ResearchConceptsRenal cell carcinomaRenal disordersPapillary renal cell carcinomaAutosomal recessive polycystic kidney diseaseChromophobe renal cell carcinomaRecessive polycystic kidney diseaseRenin-secreting tumorMedullary collecting ductsCell of originPolycystic kidney diseaseHistopathological featuresDuct carcinomaCell carcinomaKidney diseaseMedullary carcinomaJuxtaglomerular cellsSegmental involvementClear cellsProximal tubulesRenal papillaCollecting ductsNephron disordersSegmental disorderCarcinomaDisorders
2004
PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells
Zhang MZ, Mai W, Li C, Cho SY, Hao C, Moeckel G, Zhao R, Kim I, Wang J, Xiong H, Wang H, Sato Y, Wu Y, Nakanuma Y, Lilova M, Pei Y, Harris RC, Li S, Coffey RJ, Sun L, Wu D, Chen XZ, Breyer MD, Zhao ZJ, McKanna JA, Wu G. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 2311-2316. PMID: 14983006, PMCID: PMC356947, DOI: 10.1073/pnas.0400073101.Peer-Reviewed Original ResearchConceptsAutosomal recessive polycystic kidney diseasePolycystic kidney diseaseKidney diseaseEpithelial cellsRecessive polycystic kidney diseaseHuman autosomal recessive polycystic kidney diseaseCultured renal cellsHepatic disease 1 (PKHD1) genePulmonary bronchiPCK rat kidneysRat modelDisease associatesPCK ratsPolycystic kidneysRenal epithelial cellsType 2Pathogenic basisRenal cellsRat kidneyPrimary ciliaHepatic cellsPolyclonal AbKidneyGene productsRats
2002
Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases.
Obermüller N, Cai Y, Kränzlin B, Thomson RB, Gretz N, Kriz W, Somlo S, Witzgall R. Altered expression pattern of polycystin-2 in acute and chronic renal tubular diseases. Journal Of The American Society Of Nephrology 2002, 13: 1855-64. PMID: 12089381, DOI: 10.1097/01.asn.0000018402.33620.c7.Peer-Reviewed Original ResearchConceptsPolycystic kidney diseaseAutosomal dominant polycystic kidney diseaseKidney diseaseRenal failureDistal tubulesProximal tubulesIschemic acute renal failureCyst formationAcute renal failureAutosomal recessive polycystic kidney diseaseChronic renal failureRenal tubular diseaseCyst-lining cellsBasal compartmentPolycystin-2Renal injuryAcute injuryTubular diseaseKidney tissueAltered expression patternsPronounced upregulationNative kidney tissueS3 segmentDiseaseInjuryA Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease
Xiong H, Chen Y, Yi Y, Tsuchiya K, Moeckel G, Cheung J, Liang D, Tham K, Xu X, Chen XZ, Pei Y, Zhao ZJ, Wu G. A Novel Gene Encoding a TIG Multiple Domain Protein Is a Positional Candidate for Autosomal Recessive Polycystic Kidney Disease. Genomics 2002, 80: 96-104. PMID: 12079288, DOI: 10.1006/geno.2002.6802.Peer-Reviewed Original ResearchConceptsNorthern blot analysisNovel genesGenetic intervalStrong positional candidate geneMultiple alternative transcriptsExpression of PKHD1Positional candidate genesAutosomal recessive polycystic kidney diseaseBlot analysisImmunoglobulin-like foldGenetic linkage analysisTIG domainMultiple-domain proteinsDomain proteinsSitu hybridization analysisGenomic regionsPolycystic kidney diseaseAlternative transcriptsPositional candidatesRecessive polycystic kidney diseaseCommon hereditary renal cystic diseasesHepatic disease 1Gene productsCloning strategyCandidate genes
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