Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. - Wikidata - wikimedia - TriplyDB

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q34282181

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Down syndrome and leukemia: insights into leukemogenesis and translational targets Ribosomopathies: how a common root can cause a tree of pathologies GATA family transcriptional factors: emerging suspects in hematologic disorders The biology of pediatric acute megakaryoblastic leukemia The inherited bone marrow failure syndromes Anemia: progress in molecular mechanisms and therapies Role of ribosomal protein mutations in tumor development (Review)Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering Erythro-megakaryocytic transcription factors associated with hereditary anemia Analysis of disease-causing GATA1 mutations in murine gene complementation systems 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.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.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium Internati Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.Genomic characterization of the inherited bone marrow failure syndromes.Genetic predisposition syndromes: when should they be considered in the work-up of MDS?Neonatal manifestations of inherited bone marrow failure syndromes.GATA factor mutations in hematologic disease.Altered translation of GATA1 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.Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families.Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders.Marrow failure: a window into ribosome biology Ribosomopathies: mechanisms of disease.Diamond Blackfan anemia: a Cheshire cat of hematology.TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors.Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.VarRanker: rapid prioritization of sequence variations associated with human disease.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.Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus.X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.Altered chromatin occupancy of master regulators underlies evolutionary divergence in the transcriptional landscape of erythroid differentiation Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature.

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

http://www.wikidata.org/entity/Q34282181

description

2012 nî lūn-bûn

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2012 թուականի Յունիսին հրատարակուած գիտական յօդուած

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2012 թվականի հունիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@ast

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

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type

label

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@ast

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@en

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@nl

prefLabel

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@ast

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@en

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@nl

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Journal of Clinical Investigation

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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia.

@en

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Colin A Sieff

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David G Nathan

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Hanna T Gazda

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Jo-Anne Vergilio

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Prathapan Thiru

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Ron Do

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Roxanne Ghazvinian

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Stuart H Orkin

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Vijay G Sankaran

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P2860

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

A map of human genome variation from population-scale sequencing

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

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells

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2439-2443

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10.1172/JCI63597

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122

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