Impaired ribosome biogenesis in Diamond-Blackfan anemia - Wikidata - wikimedia - TriplyDB

Impaired ribosome biogenesis in Diamond-Blackfan anemia

Impaired ribosome biogenesis in Diamond-Blackfan anemia

http://www.wikidata.org/entity/Q24307762

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Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA The role of human ribosomal proteins in the maturation of rRNA and ribosome production Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients Development, Maintenance, and Reversal of Multiple Drug Resistance: At the Crossroads of TFPI1, ABC Transporters, and HIF1 Ribosomopathies: how a common root can cause a tree of pathologies Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19 Comprehensive Molecular Structure of the Eukaryotic Ribosome Diverse diseases from a ubiquitous process: the ribosomopathy paradox The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA ISG20L2, a novel vertebrate nucleolar exoribonuclease involved in ribosome biogenesis The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.The HIV Tat protein affects processing of ribosomal RNA precursor.Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Ribosomopathies: human disorders of ribosome dysfunction.The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis 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.Proteomic analysis of solid pseudopapillary tumor of the pancreas reveals dysfunction of the endoplasmic reticulum protein processing pathway A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biology Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications Ribosomopathies: mechanisms of disease.Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.The NIP7 protein is required for accurate pre-rRNA processing in human cells.

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

http://www.wikidata.org/entity/Q24307762

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2007 nî lūn-bûn

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2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2007 թվականի փետրվարին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Impaired ribosome biogenesis in Diamond-Blackfan anemia

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Aurore Crétien

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Daniel Bacqueville

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Gil Tchernia

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Jacqueline Noaillac-Depeyre

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Jacques Rouquette

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Lydie Da Costa

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Pierre-Emmanuel Gleizes

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Sébastien Fribourg

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Thierry Leblanc

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Valérie Choesmel

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P2860

Apoptotic cells of an epithelial cell line, AsPC-1, release monocyte chemotactic S19 ribosomal protein dimer

Fibroblast growth factor-2 interacts with free ribosomal protein S19

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein

Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology

A novel nucleolar protein interacts with ribosomal protein S19

Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.

Evidence of p53-dependent cross-talk between ribosome biogenesis and the cell cycle: effects of nucleolar protein Bop1 on G(1)/S transition

Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function.

The carboxy-terminal extension of yeast ribosomal protein S14 is necessary for maturation of 43S preribosomes.

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.

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Ribosomal protein S19

maturation of SSU-rRNA

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