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Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to p...

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to p...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2054901820

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation

About this item

Full title

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation

Publisher

United States: Public Library of Science

Journal title

PloS one, 2018-06, Vol.13 (6), p.e0197973-e0197973

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin interacting proteins-1 and -2 (Fnip1, Fnip2) as well as...

Alternative Titles

Full title

Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_2054901820

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2054901820

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0197973

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