Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia - Wikidata - awgldk - TriplyDB

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

http://www.wikidata.org/entity/Q28308133

about

Potential therapeutic targets for chordoma: PI3K/AKT/TSC1/TSC2/mTOR pathway Ribosomopathies: how a common root can cause a tree of pathologies Role of ribosomal protein mutations in tumor development (Review)The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update An extensive network of information flow through the B1b/c intersubunit bridge of the yeast ribosome Eukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturation Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations Ribosomal protein L11 associates with c-Myc at 5 S rRNA and tRNA genes and regulates their expression Ribosomopathies: human disorders of ribosome dysfunction.Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.Perturbation of 60 S ribosomal biogenesis results in ribosomal protein L5- and L11-dependent p53 activation Drosophila ribosomal protein mutants control tissue growth non-autonomously via effects on the prothoracic gland and ecdysone Ribosome defects in disorders of erythropoiesis.The cancerous translation apparatus A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications Ribosomal proteins: functions beyond the ribosome The NIP7 protein is required for accurate pre-rRNA processing in human cells.Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.Assessment of hematopoietic failure due to Rpl11 deficiency in a zebrafish model of Diamond-Blackfan anemia by deep sequencing.Signaling to p53: ribosomal proteins find their way.Hydrophilic residues are crucial for ribosomal protein L11 (RPL11) interaction with zinc finger domain of MDM2 and p53 protein activation The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.The Regulation of Multiple p53 Stress Responses is Mediated through MDM2 Important genes in the pathogenesis of 5q- syndrome and their connection with ribosomal stress and the innate immune system pathway.Translational control in cancer etiology.Diamond-Blackfan anemia, ribosome and erythropoiesis.A Case of Diamond Blackfan Anemia (DBA) with Mutation in Ribosomal Protein S19.The search for evolutionary developmental origins of aging in zebrafish: a novel intersection of developmental and senescence biology in the zebrafish model system.Scission of the p53-MDM2 Loop by Ribosomal Proteins.Diamond Blackfan anemia: a model for the translational approach to understanding human disease.Ribosomal protein L11 recruits miR-24/miRISC to repress c-Myc expression in response to ribosomal stress The ribosomal protein gene RPL5 is a haploinsufficient tumor suppressor in multiple cancer types.Hold on to your friends: Dedicated chaperones of ribosomal proteins: Dedicated chaperones mediate the safe transfer of ribosomal proteins to their site of pre-ribosome incorporation.Fungal Ribotoxins: A Review of Potential Biotechnological Applications.Ribosomal protein S14 unties the MDM2-p53 loop upon ribosomal stress.Silencing of ribosomal protein S9 elicits a multitude of cellular responses inhibiting the growth of cancer cells subsequent to p53 activation.RPL36 as a prognostic marker in hepatocellular carcinoma.The uS8, uS4, eS31, and uL14 Ribosomal Protein Genes Are Dysregulated in Nasopharyngeal Carcinoma Cell Lines

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Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia

http://www.wikidata.org/entity/Q28308133

description

2009 nî lūn-bûn

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2009 թուականի Մարտին հրատարակուած գիտական յօդուած

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2009 թվականի մարտին հրատարակված գիտական հոդված

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2009年の論文

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Identification of mutations in ...... s with Diamond-Blackfan anemia

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Identification of mutations in ...... s with Diamond-Blackfan anemia

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Identification of mutations in ...... s with Diamond-Blackfan anemia

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Identification of mutations in ...... s with Diamond-Blackfan anemia

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Dagmar Pospisilova

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Helena Handrkova

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Jan Stary

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Jana Cmejlova

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Kvetoslava Petrtylova

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Radek Cmejla

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Vladimir Mihal

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Yahia Jabali

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Zdena Cerna

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Yeast ribosomal protein L1 is required for the stability of newly synthesized 5S rRNA and the assembly of 60S ribosomal subunits.

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321-327

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10.1002/HUMU.20874

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3

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30

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23975560

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19191325

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