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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

http://www.wikidata.org/entity/Q28296164

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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome Progress towards mechanism-based treatment for Diamond-Blackfan anemia Biological Databases for Hematology Research Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.Genomic characterization of the inherited bone marrow failure syndromes.Neonatal manifestations of inherited bone marrow failure syndromes.Specialized ribosomes: a new frontier in gene regulation and organismal biology.The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.Hepcidin levels in Diamond-Blackfan anemia reflect erythropoietic activity and transfusion dependency 5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.The central core region of yeast ribosomal protein L11 is important for subunit joining and translational fidelity Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.Ribosomopathies: mechanisms of disease.Genetics of ribosomal proteins: "curiouser and curiouser"Clinical utility gene card for: Diamond Blackfan anemia VarRanker: rapid prioritization of sequence variations associated with human disease.Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing.Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis The role of glucocorticoid receptor (GR) polymorphisms in human erythropoiesis.Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Ribosome deficiency protects against ER stress in Saccharomyces cerevisiae.The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway.Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.Advances in understanding erythropoiesis: evolving perspectives Erythropoiesis in the absence of adult hemoglobin.Genetic predispositions to childhood leukemia.Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.

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P2860

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

http://www.wikidata.org/entity/Q28296164

description

2010 nî lūn-bûn

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2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

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Adrianna Vlachos

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Alexis Proust

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Anna Aspesi

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Anne-Sophie Fröjmark

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Catherine M Clinton

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Christopher M Buros

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Dagmar Pospisilova

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Elisa Pavesi

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Emanuela Garelli

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Eva Atsidaftos

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P2860

Human ribosomal protein S26 suppresses the splicing of its pre-mRNA

Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function

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

Impaired ribosome biogenesis in Diamond-Blackfan anemia

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

Regulation of nucleolar signalling to p53 through NEDDylation of L11

RPS19 mutations in patients with Diamond-Blackfan anemia

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

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

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10.1002/HUMU.21383

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47500991

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