Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia. - Wikidata - wikimedia - TriplyDB

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q33645930

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Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28 Ectopic mineralization in the middle ear and chronic otitis media with effusion caused by RPL38 deficiency in the Tail-short (Ts) mouse.Ribosomopathies: how a common root can cause a tree of pathologies Progress towards mechanism-based treatment for Diamond-Blackfan anemia Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Guarding the 'translation apparatus': defective ribosome biogenesis and the p53 signaling pathway Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypes Ribosomal Protein Rps26 Influences 80S Ribosome Assembly in Saccharomyces cerevisiae.Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update Defining an EPOR- regulated transcriptome for primary progenitors, including Tnfr-sf13c as a novel mediator of EPO- dependent erythroblast formation Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML.Mutation of the cytosolic ribosomal protein-encoding RPS10B gene affects shoot meristematic function in Arabidopsis Genomic characterization of the inherited bone marrow failure syndromes.Ribosomal protein S19 binds to its own mRNA with reduced affinity in Diamond-Blackfan anemia Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.The role of nuclear bodies in gene expression and disease.Drosophila ribosomal protein mutants control tissue growth non-autonomously via effects on the prothoracic gland and ecdysone Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.Ribosome defects in disorders of erythropoiesis.A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly.Assembly and disassembly of the nucleolus during the cell cycle.Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.How I treat Diamond-Blackfan anemia.Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications Ribosomal proteins: functions beyond the ribosome Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.Clinical utility gene card for: Diamond Blackfan anemia 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 haploinsufficiency of RPS14 and p53 activation in the molecular pathogenesis of the 5q- syndrome.Cardiomyopathy is associated with ribosomal protein gene haplo-insufficiency in Drosophila melanogaster Ribosomal protein gene deletions in Diamond-Blackfan anemia.Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q33645930

description

2010 nî lūn-bûn

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2010 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հունվարին 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

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

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type

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

@en

prefLabel

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

@ast

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

@en

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J.AJHG.2009.12.015

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American Journal of Human Genetics

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Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

@en

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Adrianna Vlachos

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Bertil Glader

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Catherine Clinton

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Colin A Sieff

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Eva Atsidaftos

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Hal E Schneider

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Hanna T Gazda

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Jeffrey M Lipton

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Leana Doherty

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Marie-Françoise O'Donohue

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P2860

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

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

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

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

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

The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia

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Peter Newburger

Edyta Niewiadomska

Pierre-Emmanuel Gleizes

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