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 disease
2002
A 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 ResearchMeSH KeywordsAmino Acid SequenceAnimalsCloning, MolecularHumansMiceMolecular Sequence DataOrgan SpecificityPolycystic Kidney, Autosomal RecessiveProtein Structure, TertiaryReceptors, Cell SurfaceConceptsNorthern 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