Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. - Wikidata - awgldk - TriplyDB

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q36025647

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Impaired ribosome biogenesis in Diamond-Blackfan anemia Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia Ribosomopathies: how a common root can cause a tree of pathologies Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer.Altered translation of GATA1 in Diamond-Blackfan anemia.Effect of HIP/ribosomal protein L29 deficiency on mineral properties of murine bones and teeth.Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.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.Ribosomopathies: mechanisms of disease.Animal models of Diamond Blackfan anemia.Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome.In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature.Genetic Variability Overrides the Impact of Parental Cell Type and Determines iPSC Differentiation Potential.Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway.Haploinsufficiency of RPS14 in 5q- syndrome is associated with deregulation of ribosomal- and translation-related genes.Diamond-Blackfan anemia, ribosome and erythropoiesis.Dysferlin and other non-red cell proteins accumulate in the red cell membrane of Diamond-Blackfan Anemia patients.Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia.Ribosomal proteins as novel players in tumorigenesis.Mitochondria: impaired mitochondrial translation in human disease The SKI proto-oncogene enhances the in vivo repopulation of hematopoietic stem cells and causes myeloproliferative disease.Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.Expression trend of selected ribosomal protein genes in nasopharyngeal carcinoma.Pathogenesis of the erythroid failure in Diamond Blackfan anaemia.Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.p53-independent apoptosis limits DNA damage-induced aneuploidy.Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects.Bmi1 promotes erythroid development through regulating ribosome biogenesis Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.Confounding in ex vivo models of Diamond-Blackfan anemia.Innate immune system activation in zebrafish and cellular models of Diamond Blackfan Anemia.Differential expression of ribosomal proteins in myelodysplastic syndromes.Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts.Identification of novel drug targets for diamond-blackfan anemia based on RPS19 gene mutation using protein-protein interaction network.

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P2860

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q36025647

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STEMCELLS.2005-0554

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Defective ribosomal protein ge ...... ys in Diamond-Blackfan anemia.

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Alan H Beggs

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Alvin T Kho

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Colin A Sieff

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Despina Sanoudou

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Hanna T Gazda

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Jan M Zaucha

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P2860

RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle

Significance analysis of microarrays applied to the ionizing radiation response

RhoB is required to mediate apoptosis in neoplastically transformed cells after DNA damage

Cluster analysis and display of genome-wide expression patterns

Many ribosomal protein genes are cancer genes in zebrafish

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

Characterization of a human DNA damage binding protein implicated in xeroderma pigmentosum E

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

Apoptotic role of Fas/Fas ligand system in the regulation of erythropoiesis

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