Matches in SemOpenAlex for { <https://semopenalex.org/work/W4295280592> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W4295280592 endingPage "S113" @default.
- W4295280592 startingPage "S113" @default.
- W4295280592 abstract "Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes within the vascular system. ALS deficient (ALS-D) patients and a subset of children with idiopathic short stature (ISS), presenting IGFALS gene variants, show variable degree of growth retardation associated to IGF-I and IGFBP-3 deficiencies. The aim of this study was to evaluate the potential pathogenicity of eleven IGFALS variants identified in ALS-D and ISS children using in silico and in vitro approaches. We were able to classify seven of these variants as pathogenic since they present impaired synthesis (p.Glu35Lysfs*87, p.Glu35Glyfs*17, p.Asn276Ser, p.Leu409Phe, p.Ser490Trp and p.Cys540Arg), or partial impairment of synthesis and lack of secretion (p.Leu213Phe). We also observed significant reduction of secreted protein for variants p.Ala330Asp, Ala475Val and p.Arg548Trp, while still retaining their ability to form ternary complexes. These findings provide an approach to test the pathogenicity of IGFALS gene variants." @default.
- W4295280592 created "2022-09-12" @default.
- W4295280592 creator A5024014197 @default.
- W4295280592 creator A5026355051 @default.
- W4295280592 creator A5048119028 @default.
- W4295280592 creator A5050733183 @default.
- W4295280592 creator A5053794715 @default.
- W4295280592 creator A5074833698 @default.
- W4295280592 date "2022-09-01" @default.
- W4295280592 modified "2023-10-01" @default.
- W4295280592 title "P06-01 Environmentally relevant exposure to glyphosate induces transcriptomic signaling in zebrafish (Danio rerio) embryos" @default.
- W4295280592 cites W1993317994 @default.
- W4295280592 cites W2605963008 @default.
- W4295280592 cites W2761820424 @default.
- W4295280592 cites W3015180392 @default.
- W4295280592 doi "https://doi.org/10.1016/j.toxlet.2022.07.319" @default.
- W4295280592 hasPublicationYear "2022" @default.
- W4295280592 type Work @default.
- W4295280592 citedByCount "0" @default.
- W4295280592 crossrefType "journal-article" @default.
- W4295280592 hasAuthorship W4295280592A5024014197 @default.
- W4295280592 hasAuthorship W4295280592A5026355051 @default.
- W4295280592 hasAuthorship W4295280592A5048119028 @default.
- W4295280592 hasAuthorship W4295280592A5050733183 @default.
- W4295280592 hasAuthorship W4295280592A5053794715 @default.
- W4295280592 hasAuthorship W4295280592A5074833698 @default.
- W4295280592 hasConcept C104317684 @default.
- W4295280592 hasConcept C127716648 @default.
- W4295280592 hasConcept C134018914 @default.
- W4295280592 hasConcept C150194340 @default.
- W4295280592 hasConcept C162317418 @default.
- W4295280592 hasConcept C202751555 @default.
- W4295280592 hasConcept C2775905019 @default.
- W4295280592 hasConcept C2776878037 @default.
- W4295280592 hasConcept C2778754045 @default.
- W4295280592 hasConcept C2780384893 @default.
- W4295280592 hasConcept C2984496839 @default.
- W4295280592 hasConcept C49039625 @default.
- W4295280592 hasConcept C54355233 @default.
- W4295280592 hasConcept C71315377 @default.
- W4295280592 hasConcept C86803240 @default.
- W4295280592 hasConceptScore W4295280592C104317684 @default.
- W4295280592 hasConceptScore W4295280592C127716648 @default.
- W4295280592 hasConceptScore W4295280592C134018914 @default.
- W4295280592 hasConceptScore W4295280592C150194340 @default.
- W4295280592 hasConceptScore W4295280592C162317418 @default.
- W4295280592 hasConceptScore W4295280592C202751555 @default.
- W4295280592 hasConceptScore W4295280592C2775905019 @default.
- W4295280592 hasConceptScore W4295280592C2776878037 @default.
- W4295280592 hasConceptScore W4295280592C2778754045 @default.
- W4295280592 hasConceptScore W4295280592C2780384893 @default.
- W4295280592 hasConceptScore W4295280592C2984496839 @default.
- W4295280592 hasConceptScore W4295280592C49039625 @default.
- W4295280592 hasConceptScore W4295280592C54355233 @default.
- W4295280592 hasConceptScore W4295280592C71315377 @default.
- W4295280592 hasConceptScore W4295280592C86803240 @default.
- W4295280592 hasLocation W42952805921 @default.
- W4295280592 hasOpenAccess W4295280592 @default.
- W4295280592 hasPrimaryLocation W42952805921 @default.
- W4295280592 hasRelatedWork W1556453709 @default.
- W4295280592 hasRelatedWork W1898326553 @default.
- W4295280592 hasRelatedWork W1981708334 @default.
- W4295280592 hasRelatedWork W2023572900 @default.
- W4295280592 hasRelatedWork W2754919570 @default.
- W4295280592 hasRelatedWork W2979133706 @default.
- W4295280592 hasRelatedWork W3130789103 @default.
- W4295280592 hasRelatedWork W3210463180 @default.
- W4295280592 hasRelatedWork W4308039002 @default.
- W4295280592 hasRelatedWork W4321334971 @default.
- W4295280592 hasVolume "368" @default.
- W4295280592 isParatext "false" @default.
- W4295280592 isRetracted "false" @default.
- W4295280592 workType "article" @default.