Ribosomal protein gene deletions in Diamond-Blackfan anemia. - Wikidata - awgldk - TriplyDB

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q35631339

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Ribosomopathies: how a common root can cause a tree of pathologies Ribosomal proteins as unrevealed caretakers for cellular stress and genomic instability Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis Ribosome synthesis and MAPK activity modulate ionizing radiation-induced germ cell apoptosis in Caenorhabditis elegans E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease The genomics of inherited bone marrow failure: from mechanism to the clinic.Inherited bone marrow failure syndromes in adolescents and young adults.The role of the DNA damage response in zebrafish and cellular models of Diamond Blackfan anemia.Ribosome-omics of the human ribosome.Defects of protein production in erythroid cells revealed in a zebrafish Diamond-Blackfan anemia model for mutation in RPS19.Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.Nucleolar stress with and without p53.Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Ribosomal proteins and human diseases: pathogenesis, molecular mechanisms, and therapeutic implications Ribosomopathies: mechanisms of disease.Diamond Blackfan anemia: a Cheshire cat of hematology.Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5.Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.Heme and FLVCR-related transporter families SLC48 and SLC49.Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.Clinical utility gene card for: Diamond-Blackfan anemia--update 2013.Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.Repressed synthesis of ribosomal proteins generates protein-specific cell cycle and morphological phenotypes.A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia.Inherited bone marrow failure syndromes in 2012.Cellular stress pathways in pediatric bone marrow failure syndromes: many roads lead to neutropenia.Diamond Blackfan anemia: a model for the translational approach to understanding human disease.p53 and ribosome biogenesis stress: the essentials.Rps26 directs mRNA-specific translation by recognition of Kozak sequence elements.Molecular convergence in ex vivo models of Diamond-Blackfan anemia.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.Loss of tumor suppressor RPL5/RPL11 does not induce cell cycle arrest but impedes proliferation due to reduced ribosome content and translation capacity.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q35631339

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2011年论文

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia.

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Ribosomal protein gene deletions in Diamond-Blackfan anemia

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Adrianna Vlachos

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David M Bodine

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Eva Atsidaftos

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Hannah Carlson-Donohoe

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Jeffrey M Lipton

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Robert J Arceci

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Steven R Ellis

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Thomas C Markello

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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

RPS19 mutations in patients with Diamond-Blackfan anemia

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

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

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

Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19

Detection of large-scale variation in the human genome

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

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