Ribosomopathies: human disorders of ribosome dysfunction. - Test2 - elhamkhani - TriplyDB

Ribosomopathies: human disorders of ribosome dysfunction.

Ribosomopathies: human disorders of ribosome dysfunction.

http://www.wikidata.org/entity/Q33806050

about

Genome-wide interrogation of Mammalian stem cell fate determinants by nested chromosome deletions NPM1/B23: A Multifunctional Chaperone in Ribosome Biogenesis and Chromatin Remodeling Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 The nucleolus under stress The importance of ribosome production, and the 5S RNP-MDM2 pathway, in health and disease Development, Maintenance, and Reversal of Multiple Drug Resistance: At the Crossroads of TFPI1, ABC Transporters, and HIF1 Why is start codon selection so precise in eukaryotes?Human diseases of the SSU processome Ribosomal proteins as unrevealed caretakers for cellular stress and genomic instability Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease The inherited bone marrow failure syndromes Cohesinopathies of a feather flock together Perturbations at the ribosomal genes loci are at the centre of cellular dysfunction and human disease Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway A kinome-wide RNAi screen in Drosophila Glia reveals that the RIO kinases mediate cell proliferation and survival through TORC2-Akt signaling in glioblastoma The conserved Bud20 zinc finger protein is a new component of the ribosomal 60S subunit export machinery Hrr25/CK1δ-directed release of Ltv1 from pre-40S ribosomes is necessary for ribosome assembly and cell growth Ribosome biogenesis factor Tsr3 is the aminocarboxypropyl transferase responsible for 18S rRNA hypermodification in yeast and humans.Role of ribosomal protein mutations in tumor development (Review)What Is the Impact of mRNA 5' TL Heterogeneity on Translational Start Site Selection and the Mammalian Cellular Phenotype?Regulatory Roles of Rpl22 in Hematopoiesis: An Old Dog with New Tricks Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processing Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine acetyltransferases that modify tRNAs assisted by the adaptor Tan1/THUMPD1 The human 18S rRNA base methyltransferases DIMT1L and WBSCR22-TRMT112 but not rRNA modification are required for ribosome biogenesis Autophagy induction is a Tor- and Tp53-independent cell survival response in a zebrafish model of disrupted ribosome biogenesis An extraribosomal function of ribosomal protein L13a in macrophages resolves inflammation Eukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturation Notchless-dependent ribosome synthesis is required for the maintenance of adult hematopoietic stem cells The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.PICT-1 is a key nucleolar sensor in DNA damage response signaling that regulates apoptosis through the RPL11-MDM2-p53 pathway Cohesion promotes nucleolar structure and function A protein inventory of human ribosome biogenesis reveals an essential function of exportin 5 in 60S subunit export The ribosomal protein Rpl22 controls ribosome composition by directly repressing expression of its own paralog, Rpl22l1 GATA factor mutations in hematologic disease.Haematopoietic stem cells require a highly regulated protein synthesis rate.Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders

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Ribosomopathies: human disorders of ribosome dysfunction.

http://www.wikidata.org/entity/Q33806050

description

2010 nî lūn-bûn

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2010 թուականի Մարտին հրատարակուած գիտական յօդուած

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2010 թվականի մարտին 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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Ribosomopathies: human disorders of ribosome dysfunction.

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Ribosomopathies: human disorders of ribosome dysfunction.

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Anupama Narla

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Benjamin L Ebert

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P2860

Mdm2 is a RING finger-dependent ubiquitin protein ligase for itself and p53

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

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

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

Identification of a human heme exporter that is essential for erythropoiesis

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

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

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

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