The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.Draptchinskaia N., Gustavsson P., Andersson B., Pettersson M., Willig T.-N.D., Dianzani I., Ball S., Tchernia G., Klar J.[...], Dahl N.View abstractCategorySequencesSourceMGI: 97603PubMedEurope PMCNat. Genet. 21:169-175 (1999)Cited in1Mapped to19
Late onset of renal and hepatic cysts in Pkd1-targeted heterozygotes.Lu W., Fan X., Basora N., Babakhanlou H., Law T., Rifai N., Harris P.C., Perez-Atayde A.R., Rennke H.G., Zhou J.CategoryPhenotypes & VariantsSourceMGI: 97603PubMedEurope PMCNat Genet 21:160-161 (1999)Mapped to12
Murine Pkd1 introns 21 and 22 lack the extreme polypyrimidine bias present in human PKD1.Piontek K.B., Germino G.G.CategoriesFunction, SequencesSourceMGI: 97603PubMedEurope PMCMamm Genome 10:194-196 (1999)Mapped to12
Somatic inactivation of Pkd2 results in polycystic kidney disease.Wu G., D'Agati V., Cai Y., Markowitz G., Park J.H., Reynolds D.M., Maeda Y., Le T.C., Hou H. Jr.[...], Somlo S.View abstractCategoriesSequences, Phenotypes & VariantsSourceMGI: 97603PubMedEurope PMCCell 93:177-188 (1998)Cited in1Mapped to12
Expression of polycystin in mouse metanephros and extra-metanephric tissues.Griffin M.D., O'Sullivan D.A., Torres V.E., Grande J.P., Kanwar Y.S., Kumar R.View abstractCategoriesSequences, ExpressionSourceMGI: 97603PubMedEurope PMCKidney Int 52:1196-1205 (1997)Mapped to12
Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation.Lu W., Peissel B., Babakhanlou H., Pavlova A., Geng L., Fan X., Larson C., Brent G., Zhou J.View abstractCategoryPhenotypes & VariantsSourceMGI: 97603PubMedEurope PMCNat Genet 17:179-181 (1997)Mapped to12
Cystic kidney diseases.Griffin M.D., Torres V.E., Kumar R.View abstractCategoryNamesSourceMGI: 97603PubMedEurope PMCCurr Opin Nephrol Hypertens 6:276-283 (1997)Mapped to23
Distribution and developmentally regulated expression of murine polycystin.Geng L., Segal Y., Pavlova A., Barros E.J., Lohning C., Lu W., Nigam S.K., Frischauf A.M., Reeders S.T., Zhou J.View abstractCategorySequencesSourceMGI: 97603PubMedEurope PMCAm J Physiol 272:F451-9 (1997)Mapped to12
Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3.Burn T.C., Connors T.D., Van Raay T.J., Dackowski W.R., Millholland J.M., Klinger K.W., Landes G.M.View abstractCategorySequencesSourceMGI: 97603PubMedEurope PMCGenome Res. 6:525-537 (1996)Cited in1Mapped to28
Advances in polycystic kidney disease.Schneider M.C.View abstractCategorySequencesSourceMGI: 97603PubMedEurope PMCMol Med Today 2:70-75 (1996)Mapped to12
The mouse homologue of the polycystic kidney disease gene (Pkd1) is a single-copy gene.Olsson P.G., Lohning C., Horsley S., Kearney L., Harris P.C., Frischauf A.View abstractCategorySequencesSourceMGI: 97603PubMedEurope PMCGenomics 34:233-235 (1996)Mapped to28
Animal models of polycystic kidney disease.Aziz N.View abstractCategoriesFunction, Phenotypes & VariantsSourceMGI: 97603PubMedEurope PMCBioessays 17:703-712 (1995)Mapped to30
Reduced decay-accelerating factor expression promotes complement-mediated cystogenesis in murine ADPKD.Bin S., Yoo M., Molinari P., Gentile M., Budge K., Cantarelli C., Khan Y., La Manna G., Baldwin W.M.[...], Gusella G.L.View abstractAnnotationReduced decay-accelerating factor expression promotes complement-mediated cystogenesis in murine ADPKD.CategoryFunctionSourceGeneRif: 18763PubMedEurope PMCJCI Insight 9:e175220-e175220 (2024)Mapped to6
PKD1 mutant clones within cirrhotic livers inhibit steatohepatitis without promoting cancer.Zhu M., Wang Y., Lu T., Guo J., Li L., Hsieh M.H., Gopal P., Han Y., Fujiwara N.[...], Zhu H.View abstractSourceMGI: 97603PubMedEurope PMCCell Metab 36:1711-1725.e8 (2024)Mapped to12
Mechanosensitive protein polycystin-1 promotes periosteal stem/progenitor cells osteochondral differentiation in fracture healing.Liu R., Jiao Y.R., Huang M., Zou N.Y., He C., Huang M., Chen K.X., He W.Z., Liu L.[...], Li C.J.View abstractAnnotationMechanosensitive protein polycystin-1 promotes periosteal stem/progenitor cells osteochondral differentiation in fracture healing.CategoryFunctionSourceGeneRif: 18763PubMedEurope PMCTheranostics 14:2544-2559 (2024)Mapped to6
Inhibition of pannexin-1 does not restore electrolyte balance in precystic Pkd1 knockout mice.van Megen W.H., van Houtert T.J., Bos C., Peters D.J.M., de Baaij J.H.F., Hoenderop J.G.J.View abstractAnnotationInhibition of pannexin-1 does not restore electrolyte balance in precystic Pkd1 knockout mice.CategoryFunctionSourceGeneRif: 18763PubMedEurope PMCPhysiol Rep 12:e15956-e15956 (2024)Mapped to9
Deletion of Aurora kinase A prevents the development of polycystic kidney disease in mice.Tham M.S., Cottle D.L., Zylberberg A.K., Short K.M., Jones L.K., Chan P., Conduit S.E., Dyson J.M., Mitchell C.A., Smyth I.M.View abstractCategoryFunctionSourceMGI: 97603PubMedEurope PMCNat Commun 15:371-371 (2024)Mapped to21
Transcriptomic profiling of Polycystic Kidney Disease identifies paracrine factors in the early cyst microenvironment.Yasinoglu S.A., Kuipers T.B., Suidgeest E., van der Weerd L., Mei H., Baelde H.J., Peters D.J.M.View abstractCategoryNamesSourceMGI: 97603PubMedEurope PMCBiochim Biophys Acta Mol Basis Dis 1870:166987-166987 (2024)Mapped to12
Ablation of Long Noncoding RNA Hoxb3os Exacerbates Cystogenesis in Mouse Polycystic Kidney Disease.Weisser I., Eckberg K., D'Amico S., Buttram D., Aboudehen K.View abstractCategorySubcellular LocationSourceMGI: 97603PubMedEurope PMCJ Am Soc Nephrol 35:41-55 (2024)Mapped to16
Genetic interactions between polycystin-1 and Wwtr1 in osteoblasts define a novel mechanosensing mechanism regulating bone formation in mice.Xiao Z., Cao L., Smith M.D., Li H., Li W., Smith J.C., Quarles L.D.View abstractAnnotationGenetic interactions between polycystin-1 and Wwtr1 in osteoblasts define a novel mechanosensing mechanism regulating bone formation in mice.CategorySequencesSourceGeneRif: 18763PubMedEurope PMCBone Res 11:57-57 (2023)Mapped to7
Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis.Walker R.V., Yao Q., Xu H., Maranto A., Swaney K.F., Ramachandran S., Li R., Cassina L., Polster B.M.[...], Qian F.View abstractCategoryFunctionSourceMGI: 97603PubMedEurope PMCNat Commun 14:6513-6513 (2023)Mapped to19
Cleavage fragments of the C-terminal tail of polycystin-1 are regulated by oxidative stress and induce mitochondrial dysfunction.Pellegrini H., Sharpe E.H., Liu G., Nishiuchi E., Doerr N., Kipp K.R., Chin T., Schimmel M.F., Weimbs T.View abstractAnnotationCleavage fragments of the C-terminal tail of polycystin-1 are regulated by oxidative stress and induce mitochondrial dysfunction.CategorySubcellular LocationSourceGeneRif: 18763PubMedEurope PMCJ Biol Chem 299:105158-105158 (2023)Mapped to6
In vivo Polycystin-1 interactome using a novel Pkd1 knock-in mouse model.Lin C.C., Menezes L.F., Qiu J., Pearson E., Zhou F., Ishimoto Y., Anderson D.E., Germino G.G.View abstractAnnotationIn vivo Polycystin-1 interactome using a novel Pkd1 knock-in mouse model.CategoryFunctionSourceGeneRif: 18763PubMedEurope PMCPLoS One 18:e0289778-e0289778 (2023)Mapped to6
Immune checkpoint activity regulates polycystic kidney disease progression.Kleczko E.K., Nguyen D.T., Marsh K.H., Bauer C.D., Li A.S., Monaghan M.T., Berger M.D., Furgeson S.B., Gitomer B.Y.[...], Hopp K.View abstractCategoryFunctionSourceMGI: 97603PubMedEurope PMCJCI Insight 8:e161318-e161318 (2023)Mapped to14
Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.Ghosh Roy S., Li Z., Guo Z., Long K.T., Rehrl S., Tian X., Dong K., Besse W.View abstractCategoryFunctionSourceMGI: 97603PubMedEurope PMCJ Am Soc Nephrol 34:1521-1534 (2023)Mapped to16