1999
Polycystin-2 expression is developmentally regulated
Markowitz G, Cai Y, Li L, Wu G, Ward L, Somlo S, D’Agati V. Polycystin-2 expression is developmentally regulated. American Journal Of Physiology 1999, 277: f17-f25. PMID: 10409293, DOI: 10.1152/ajprenal.1999.277.1.f17.Peer-Reviewed Original ResearchConceptsPKD2 expressionMultiple mesenchymal tissuesLow-level stainingPostnatal day 14Low-intensity stainingRed blood cell precursorsPolycystin-2 expressionMultiple endocrine organsBlood cell precursorsAdrenal cortexEndocrine organDistal tubulesSmooth muscleProximal tubulesDay 14Day E12.5Adult patternBasolateral stainingCell precursorsMesenchymal tissueAdult kidneyOrgan-specific functionsEmbryonic dayStrong expressionStaining
1998
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
Wu G, D'Agati V, Cai Y, Markowitz G, Park J, Reynolds D, Maeda Y, Le T, Hou H, Kucherlapati R, Edelmann W, Somlo S. Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease. Cell 1998, 93: 177-188. PMID: 9568711, DOI: 10.1016/s0092-8674(00)81570-6.Peer-Reviewed Original ResearchConceptsCellular recessive mechanismIntragenic homologous recombinationExon 1True null alleleMutant exon 1Somatic inactivationPkd2 resultsRenal cyst formationPKD2 proteinPolycystic kidney diseaseHomologous recombinationNull allelesHuman phenotypesPKD2 expressionUnstable alleleSomatic lossPKD2Autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseMutationsGermline mutationsRecessive mechanismAllelesInactivationCyst formation