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Alternative polyadenylation and nonsense-mediated decay coordinately regulate the human HFE mRNA levels.Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cellsProximity of the poly(A)-binding protein to a premature termination codon inhibits mammalian nonsense-mediated mRNA decayEpidemiology of haemoglobin disorders in Europe: an overview.The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?Control of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype.Translation of the human erythropoietin transcript is regulated by an upstream open reading frame in response to hypoxia.Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity.More than just scanning: the importance of cap-independent mRNA translation initiation for cellular stress response and cancer.Nonsense mutations in close proximity to the initiation codon fail to trigger full nonsense-mediated mRNA decay.Interaction of PABPC1 with the translation initiation complex is critical to the NMD resistance of AUG-proximal nonsense mutations.Expression of human Hemojuvelin (HJV) is tightly regulated by two upstream open reading frames in HJV mRNA that respond to iron overload in hepatic cells.HFE gene mutations are extremely rare in Western sub-Saharan Africa.Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism.The role of HFE mutations on iron metabolism in beta-thalassemia carriersA new function of ROD1 in nonsense-mediated mRNA decayCompound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletionHb Evora [alpha2-35 (B16), Ser-->Pro], a novel hemoglobin variant associated with an alpha-thalassemia phenotypeComment on 'Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease'Hb Yaoundé [beta134(H12)Val-->Ala] in association with Hb C [beta6(A3)Glu-->Lys] in a Caucasian Portuguese familyMutational spectrum of delta-globin gene in the Portuguese populationHemoglobin Loves Park [beta68 (E12) Leu-->Phe]: report of five cases including one originating from a de novo mutationA role for DIS3L2 over natural nonsense-mediated mRNA decay targets in human cells
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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Luísa Romão Loison
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P106
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6602834878
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P31
P496
0000-0002-5061-5287