FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2002108998> ?p ?o ?g. }

• W2002108998 endingPage "254" @default.
• W2002108998 startingPage "246" @default.
• W2002108998 abstract "IGFs play key roles in intrauterine and postnatal growth through the IGF-I receptor (IGF-IR). We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L).We analysed the nucleotide sequences of the IGF1R gene of the family. We prepared R(-) cells (fibroblasts with targeted disruption of the IGF-IR gene) expressing wild-type or R431L IGF-IR and performed functional analyses by evaluating IGF-I binding, IGF-I-stimulated DNA synthesis, tyrosine phosphorylation of IGF-IR and its substrates, and internalization by measuring [(125) I]IGF-I internalization. We also performed confocal microscopy analysis.We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L) through an 8-year-old girl and her mother, both born with intrauterine growth retardation. In experiments conducted using cells homozygously transfected with the IGF-IR R431L mutation; (i) IGF-I binding was not affected; (ii) DNA synthesis induced by IGF-I was decreased; (iii) IGF-IR internalization stimulated by IGF-I was decreased and (iv) IGF-I-stimulated tyrosine phosphorylation was reduced IGF-IR by low concentrations of IGF-I and on insulin receptor substrate (IRS)-1 and IRS-2.A missense mutation (R431L) leads to the inhibition of cell proliferation, attenuation of IGF signalling and decrease in internalization of IGF-IR. The results of this study suggest a novel link between a mutation at the IGF-IR L2 domain and intrauterine and postnatal growth retardation." @default.
• W2002108998 created "2016-06-24" @default.
• W2002108998 creator A5005210921 @default.
• W2002108998 creator A5010605466 @default.
• W2002108998 creator A5021824059 @default.
• W2002108998 creator A5027632684 @default.
• W2002108998 creator A5031773877 @default.
• W2002108998 creator A5042621717 @default.
• W2002108998 creator A5075622357 @default.
• W2002108998 creator A5081055613 @default.
• W2002108998 creator A5085916499 @default.
• W2002108998 date "2012-07-10" @default.
• W2002108998 modified "2023-10-14" @default.
• W2002108998 title "Novel missense mutation in the IGF-I receptor L2 domain results in intrauterine and postnatal growth retardation" @default.
• W2002108998 cites W1536871283 @default.
• W2002108998 cites W1968013224 @default.
• W2002108998 cites W1970333027 @default.
• W2002108998 cites W1973901159 @default.
• W2002108998 cites W1979059085 @default.
• W2002108998 cites W1982049677 @default.
• W2002108998 cites W1987664922 @default.
• W2002108998 cites W2010296481 @default.
• W2002108998 cites W2012940389 @default.
• W2002108998 cites W2019685965 @default.
• W2002108998 cites W2040961694 @default.
• W2002108998 cites W2043813981 @default.
• W2002108998 cites W2047858844 @default.
• W2002108998 cites W2049570496 @default.
• W2002108998 cites W2053208884 @default.
• W2002108998 cites W2054256866 @default.
• W2002108998 cites W2085466569 @default.
• W2002108998 cites W2092817365 @default.
• W2002108998 cites W2094599445 @default.
• W2002108998 cites W2102271265 @default.
• W2002108998 cites W2111485419 @default.
• W2002108998 cites W2112086460 @default.
• W2002108998 cites W2129317932 @default.
• W2002108998 cites W2154166875 @default.
• W2002108998 cites W2163304919 @default.
• W2002108998 cites W2165638597 @default.
• W2002108998 cites W3140002906 @default.
• W2002108998 cites W4229677769 @default.
• W2002108998 cites W4246275885 @default.
• W2002108998 cites W4247641001 @default.
• W2002108998 doi "https://doi.org/10.1111/j.1365-2265.2012.04357.x" @default.
• W2002108998 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22309212" @default.
• W2002108998 hasPublicationYear "2012" @default.
• W2002108998 type Work @default.
• W2002108998 sameAs 2002108998 @default.
• W2002108998 citedByCount "32" @default.
• W2002108998 countsByYear W20021089982012 @default.
• W2002108998 countsByYear W20021089982013 @default.
• W2002108998 countsByYear W20021089982014 @default.
• W2002108998 countsByYear W20021089982015 @default.
• W2002108998 countsByYear W20021089982016 @default.
• W2002108998 countsByYear W20021089982017 @default.
• W2002108998 countsByYear W20021089982018 @default.
• W2002108998 countsByYear W20021089982019 @default.
• W2002108998 countsByYear W20021089982020 @default.
• W2002108998 countsByYear W20021089982021 @default.
• W2002108998 countsByYear W20021089982022 @default.
• W2002108998 crossrefType "journal-article" @default.
• W2002108998 hasAuthorship W2002108998A5005210921 @default.
• W2002108998 hasAuthorship W2002108998A5010605466 @default.
• W2002108998 hasAuthorship W2002108998A5021824059 @default.
• W2002108998 hasAuthorship W2002108998A5027632684 @default.
• W2002108998 hasAuthorship W2002108998A5031773877 @default.
• W2002108998 hasAuthorship W2002108998A5042621717 @default.
• W2002108998 hasAuthorship W2002108998A5075622357 @default.
• W2002108998 hasAuthorship W2002108998A5081055613 @default.
• W2002108998 hasAuthorship W2002108998A5085916499 @default.
• W2002108998 hasConcept C104317684 @default.
• W2002108998 hasConcept C11960822 @default.
• W2002108998 hasConcept C126322002 @default.
• W2002108998 hasConcept C134018914 @default.
• W2002108998 hasConcept C139770010 @default.
• W2002108998 hasConcept C153911025 @default.
• W2002108998 hasConcept C170493617 @default.
• W2002108998 hasConcept C2775960820 @default.
• W2002108998 hasConcept C2777553839 @default.
• W2002108998 hasConcept C2779069268 @default.
• W2002108998 hasConcept C501734568 @default.
• W2002108998 hasConcept C54009773 @default.
• W2002108998 hasConcept C54355233 @default.
• W2002108998 hasConcept C71924100 @default.
• W2002108998 hasConcept C75563809 @default.
• W2002108998 hasConcept C86803240 @default.
• W2002108998 hasConcept C95444343 @default.
• W2002108998 hasConceptScore W2002108998C104317684 @default.
• W2002108998 hasConceptScore W2002108998C11960822 @default.
• W2002108998 hasConceptScore W2002108998C126322002 @default.
• W2002108998 hasConceptScore W2002108998C134018914 @default.
• W2002108998 hasConceptScore W2002108998C139770010 @default.
• W2002108998 hasConceptScore W2002108998C153911025 @default.
• W2002108998 hasConceptScore W2002108998C170493617 @default.
• W2002108998 hasConceptScore W2002108998C2775960820 @default.
• W2002108998 hasConceptScore W2002108998C2777553839 @default.
• W2002108998 hasConceptScore W2002108998C2779069268 @default.

• next