Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_assertion> ?p ?o ?g. }
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- NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_assertion type Assertion NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_head.
- NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_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." NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_provenance.
- NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_assertion evidence source_evidence_literature NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_provenance.
- NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_assertion SIO_000772 20573681 NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_provenance.
- NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_assertion wasDerivedFrom befree-20150227 NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_provenance.
- NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_assertion wasGeneratedBy ECO_0000203 NP715339.RABsZTSZVIIf7hFaWtOAE2af4alcN8K7Bedp44iLatv_8130_provenance.