Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion type Assertion NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_head.
- NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion description "[DAX1 (for dosage-sensitive sex reversal, adrenal hypoplasia congenital critical region on the X chromosome, gene 1; also called NROB1) mutations are responsible for adrenal failure and hypogonadotropic hypogonadism in patients with adrenal hypoplasia congenita (AHC), through a loss of trans-repression of SF-1 (for steroidogenic factor-1)-mediated StAR (for steroidogenic acute regulatory protein) and LHbeta transcriptional activities and a reduction of GnRH expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_provenance.
- NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion evidence source_evidence_literature NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_provenance.
- NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion SIO_000772 20573681 NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_provenance.
- NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion wasDerivedFrom befree-20150227 NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_provenance.
- NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_assertion wasGeneratedBy ECO_0000203 NP715372.RA5fqiRKf5dUKXqtuFTYR9mzPuBlPy0XUboq31MKwNZ5A130_provenance.