Heterozygous Pkhd1(C642*) mice develop cystic liver disease and proximal tubule ectasia that mimics radiographic signs of medullary sponge kidney

Heterozygosity for human polycystic kidney and hepatic disease 1 (PKHD1) mutations was recently associated with cystic liver disease and radiographic findings resembling medullary sponge kidney (MSK). However, the relevance of these associations has been tempered by a lack of cystic liver or renal d...

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Vydáno v:Am J Physiol Renal Physiol
Hlavní autoři: Shan, Dan, Rezonzew, Gabriel, Mullen, Sean, Roye, Ronald, Zhou, Juling, Chumley, Phillip, Revell, Dustin Z., Challa, Anil, Kim, Harrison, Lockhart, Mark E., Schoeb, Trenton R., Croyle, Mandy J., Kesterson, Robert A., Yoder, Bradley K., Guay-Woodford, Lisa M., Mrug, Michal
Médium: Artigo
Jazyk:Inglês
Vydáno: American Physiological Society 2019
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6442377/
https://ncbi.nlm.nih.gov/pubmed/30600684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajprenal.00181.2018
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