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Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313559765

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

About this item

Full title

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2012-05, Vol.8 (5), p.e1002708-e1002708

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

Family with sequence similarity 20,-member C (FAM20C) is highly expressed in the mineralized tissues of mammals. Genetic studies showed that the loss-of-function mutations in FAM20C were associated with human lethal osteosclerotic bone dysplasia (Raine Syndrome), implying an inhibitory role of this molecule in bone formation. However, in vitro gain...

Alternative Titles

Full title

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1313559765

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313559765

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1002708

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