Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
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The role of human ribosomal proteins in the maturation of rRNA and ribosome productionRibosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsRibosomopathies: how a common root can cause a tree of pathologiesGuarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathwayComprehensive Molecular Structure of the Eukaryotic RibosomePromiscuous behaviour of archaeal ribosomal proteins: Implications for eukaryotic ribosome evolutionIdentification of novel proteins associated with yeast snR30 small nucleolar RNARole of ribosomal protein mutations in tumor development (Review)The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateDdx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.ZFAS1: a long noncoding RNA associated with ribosomes in breast cancer cells.Proximity ligation scaffolding and comparison of two Trichoderma reesei strains genomesRibosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Ribosomopathies: human disorders of ribosome dysfunction.5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.Ribosome defects in disorders of erythropoiesis.When ribosomes go bad: diseases of ribosome biogenesis.A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implicationsAnalysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.Dysregulation of RNA polymerase I transcription during disease.Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaPrimary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.hUTP24 is essential for processing of the human rRNA precursor at site A1, but not at site A0Alterations in the ribosomal machinery in cancer and hematologic disorders.Gene microarray analyses for potential biomarkers of single and recurrent venous thromboembolism.The p53 pathway in hematopoiesis: lessons from mouse models, implications for humans.Diamond-Blackfan anemia, ribosome and erythropoiesis.Posttranscriptional down-regulation of small ribosomal subunit proteins correlates with reduction of 18S rRNA in RPS19 deficiency.Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia.Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer.Human PDCD2L Is an Export Substrate of CRM1 That Associates with 40S Ribosomal Subunit Precursors.Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme MetabolismMolecular dissection of the 5q deletion in myelodysplastic syndrome.p53 -Dependent and -Independent Nucleolar Stress Responses.Comparison of preribosomal RNA processing pathways in yeast, plant and human cells - focus on coordinated action of endo- and exoribonucleases.Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.
P2860
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P2860
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder
description
2008 nî lūn-bûn
@nan
2008 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@ast
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en-gb
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@nl
type
label
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@ast
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en-gb
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@nl
prefLabel
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@ast
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en-gb
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@nl
P2093
P50
P3181
P356
P1476
Mutation of ribosomal protein ...... a ribosome biogenesis disorder
@en
P2093
Almass-Houd Aguissa-Touré
Hanna T Gazda
Noël Pinaud
Valérie Choesmel
P304
P3181
P356
10.1093/HMG/DDN015
P407
P577
2008-01-29T00:00:00Z