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Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered...

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_13bb7bdf8ff344ba8c2f370bc275a2ab

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

About this item

Full title

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Publisher

London: Nature Publishing Group UK

Journal title

Scientific reports, 2021-09, Vol.11 (1), p.18274-18274, Article 18274

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

Mutation of the
Cys1
gene underlies the renal cystic disease in the
Cys1
cpk/cpk
(
cpk
) mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD). Cystin, the protein product of
Cys1
, is expressed in the primary apical cilia of renal ductal epithelial cells. In previous studies, we showed that c...

Alternative Titles

Full title

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_13bb7bdf8ff344ba8c2f370bc275a2ab

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_13bb7bdf8ff344ba8c2f370bc275a2ab

Other Identifiers

ISSN

2045-2322

E-ISSN

2045-2322

DOI

10.1038/s41598-021-97046-4

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