Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. - Wikidata - awgldk - TriplyDB

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

http://www.wikidata.org/entity/Q34016409

about

Ribosomopathies: how a common root can cause a tree of pathologies Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.The genomics of inherited bone marrow failure: from mechanism to the clinic.Ribosomal proteins: functions beyond the ribosome Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis Genetic Information-Seeking Behaviors and Knowledge among Family Members and Patients with Inherited Bone Marrow Failure Syndromes.The Ribosome Biogenesis Protein Nol9 Is Essential for Definitive Hematopoiesis and Pancreas Morphogenesis in Zebrafish.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia.Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis.Function-driven discovery of disease genes in zebrafish using an integrated genomics big data resource.Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.Selenoprotein H is an essential regulator of redox homeostasis that cooperates with p53 in development and tumorigenesis The genetic architecture of resistance to virus infection in Drosophila.Potential breakthroughs with investigational drugs for hairy cell leukemia.Molecular convergence in ex vivo models of Diamond-Blackfan anemia.Predispositions to Leukemia in Down Syndrome and Other Hereditary Disorders.Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors 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 Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.How Ribosomes Translate Cancer.Efforts to enhance blood stem cell engraftment: Recent insights from zebrafish hematopoiesis.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.Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia., 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 Rare Genetic Blood Disease Modeling in Zebrafish

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P2860

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.

http://www.wikidata.org/entity/Q34016409

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2014 nî lūn-bûn

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2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2014年の論文

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Whole-exome sequencing and fun ...... mond-Blackfan anemia families.

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Whole-exome sequencing and fun ...... mond-Blackfan anemia families.

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RPS19 mutations in patients with Diamond-Blackfan anemia

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A map of human genome variation from population-scale sequencing

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Many ribosomal protein genes are cancer genes in zebrafish

I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure.

Structures of the human and Drosophila 80S ribosome

UCSF Chimera--a visualization system for exploratory research and analysis

A method and server for predicting damaging missense mutations

T-Coffee: A novel method for fast and accurate multiple sequence alignment

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