Ribosomopathies: how a common root can cause a tree of pathologies - Wikidata - awgldk - TriplyDB

Ribosomopathies: how a common root can cause a tree of pathologies

Ribosomopathies: how a common root can cause a tree of pathologies

http://www.wikidata.org/entity/Q26781845

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Role of ribosomal protein mutations in tumor development (Review)Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation The genomics of inherited bone marrow failure: from mechanism to the clinic.Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.Regulation of BLM Nucleolar Localization Involvement of human ribosomal proteins in nucleolar structure and p53-dependent nucleolar stress Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.Activation of GCN2 kinase by ribosome stalling links translation elongation with translation initiation.Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing.Emerging cellular and gene therapies for congenital anemias.Mechanistic insight into eukaryotic 60S ribosomal subunit biogenesis by cryo-electron microscopy Principles of 60S ribosomal subunit assembly emerging from recent studies in yeast.Crosstalk between the nucleolus and the DNA damage response.Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay.Genetically regulated hepatic transcripts and pathways orchestrate haematological, biochemical and body composition traits.Rpl22 Loss Selectively Impairs αβ T Cell Development by Dysregulating Endoplasmic Reticulum Stress Signaling.The thrombopoietin/MPL axis is activated in the Gata1low mouse model of myelofibrosis and is associated with a defective RPS14 signature.Identification of sites of 2'-O-methylation vulnerability in human ribosomal RNAs by systematic mapping.PIM1 destabilization activates a p53-dependent response to ribosomal stress in cancer cells Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.Inhibition of post-transcriptional steps in ribosome biogenesis confers cytoprotection against chemotherapeutic agents in a p53-dependent manner.Determining the Molecular Pathways Underlying the Protective Effect of Non-Steroidal Anti-Inflammatory Drugs for Alzheimer's Disease: A Bioinformatics Approach.FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.Insights into the evolutionary conserved regulation of Rio ATPase activity.Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.Perturbation of RNA Polymerase I transcription machinery by ablation of HEATR1 triggers the RPL5/RPL11-MDM2-p53 ribosome biogenesis stress checkpoint pathway in human cells.The SSU processome interactome in Saccharomyces cerevisiae reveals novel protein subcomplexes.Ribosomal proteins: insight into molecular roles and functions in hepatocellular carcinoma.The avian embryo as a model for fetal alcohol spectrum disorder.EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.[Ribosomes synthesis at the heart of cell proliferation].Diverse Regulators of Human Ribosome Biogenesis Discovered by Changes in Nucleolar Number.Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia., a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in A single N-methyladenosine on the large ribosomal subunit rRNA impacts locally its structure and the translation of key metabolic enzymes

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Ribosomopathies: how a common root can cause a tree of pathologies

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2015 nî lūn-bûn

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2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2015年の論文

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Ribosomopathies: how a common root can cause a tree of pathologies

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Ribosomopathies: how a common root can cause a tree of pathologies

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

Activation of mTORC2 by association with the ribosome

The balance between rRNA and ribosomal protein synthesis up- and downregulates the tumour suppressor p53 in mammalian cells

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

Impaired ribosome biogenesis in Diamond-Blackfan anemia

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

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Diamond-Blackfan anemia

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