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
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
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 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