Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion> ?p ?o ?g. }
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- NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion type Assertion NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_head.
- NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion wasGeneratedBy ECO_0000203 NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_provenance.
- NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion wasDerivedFrom befree-20150227 NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_provenance.
- NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion SIO_000772 23403405 NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_provenance.
- NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion evidence source_evidence_literature NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_provenance.
- NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_assertion description "[The seminal observations leading to these discoveries were the following: 1) mutations in FGF23 cause ADHR by limiting cleavage of the bioactive intact molecule, at a subtilisin-like protein convertase (SPC) site, resulting in increased circulating FGF23 levels and hypophosphatemia; 2) mutations in DMP1 cause ARHR, not only by increasing serum FGF23, albeit by enhanced production and not limited cleavage, but also by limiting production of the active DMP1 component, the C-terminal fragment, resulting in dysregulated production of DKK1 and β-catenin, which contributes to impaired bone mineralization; and 3) mutations in PHEX cause XLH both by altering FGF23 proteolysis and production and causing dysregulated production of DKK1 and β-catenin, similar to abnormalities in ADHR and ARHR, but secondary to different central pathophysiological events.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP866556.RAWLSfq0bmkIhPMsEv-ktxITWx9WZA0JcSQRZ4So7AcY0130_provenance.