Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. - Test2 - elhamkhani - TriplyDB

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

http://www.wikidata.org/entity/Q29871483

about

Ribosomopathies: Global process, tissue specific defects Ribosomopathies: how a common root can cause a tree of pathologies Neonatal manifestations of inherited bone marrow failure syndromes.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.Identification of novel cancer therapeutic targets using a designed and pooled shRNA library screen Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.Translation regulation by ribosomes: Increased complexity and expanded scope.RPL27A is a target of miR-595 and may contribute to the myelodysplastic phenotype through ribosomal dysgenesis Molecular convergence in ex vivo models of Diamond-Blackfan anemia.Alteration of heme metabolism in a cellular model 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.Predispositions to Leukemia in Down Syndrome and Other Hereditary Disorders.Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.Exome sequencing identified RPS15A as a novel causative gene for Diamond-Blackfan anemia Reduced-intensity conditioning and stem cell transplantation in infants with Diamond Blackfan anemia.Identifying and analyzing different cancer subtypes using RNA-seq data of blood platelets.Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.Diagnostic challenge of Diamond-Blackfan anemia in mothers and children by whole-exome sequencing.Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant., a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia

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P2860

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

http://www.wikidata.org/entity/Q29871483

description

2014 nî lūn-bûn

@nan

2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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Loss of function mutations in ...... g in Diamond-Blackfan anaemia.

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Loss of function mutations in ...... g in Diamond-Blackfan anaemia.

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Loss of function mutations in ...... g in Diamond-Blackfan anaemia.

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Loss of function mutations in ...... g in Diamond-Blackfan anaemia.

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British Journal of Haematology

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Loss of function mutations in ...... g in Diamond-Blackfan anaemia.

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Aiko Sato-Otsubo

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Akira Ishiguro

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Akira Ohara

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Etsuro Ito

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Hiroko Tanaka

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Hitoshi Kanno

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Isamu Kamimaki

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Isao Hamaguchi

http://www.w3.org/2001/XMLSchema#string

Junichi Hara

http://www.w3.org/2001/XMLSchema#string

Kazuko Kudo

http://www.w3.org/2001/XMLSchema#string

P2860

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

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

Impaired ribosome biogenesis in Diamond-Blackfan anemia

Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.

Ribosomal protein S27-like and S27 interplay with p53-MDM2 axis as a target, a substrate and a regulator

ACTN1 mutations cause congenital macrothrombocytopenia

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

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854-864

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2791832

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10.1111/BJH.13229

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6

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168

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Kenichi Yoshida

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2014-11-25T00:00:00Z

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268874266

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25424902

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rRNA processing

Ribosomal protein L27

Ribosomal protein S27