Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype - Wikidata - wikimedia - TriplyDB

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

http://www.wikidata.org/entity/Q36384327

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GATA family transcriptional factors: emerging suspects in hematologic disorders Erythro-megakaryocytic transcription factors associated with hereditary anemia Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis.GATA factor mutations in hematologic disease.Diamond Blackfan anemia: a Cheshire cat of hematology.Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis Pluripotent stem cells reveal erythroid-specific activities of the GATA1 N-terminus.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 Erythropoietin and IGF-1 signaling synchronize cell proliferation and maturation during erythropoiesis A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5'UTR GATA1s Splice Mutation.GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies.Molecular convergence in ex vivo models of Diamond-Blackfan anemia.Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia.Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression.Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study.Occurrence of colon tumors in a 16-year-old Japanese boy after hematopoietic stem cell transplantation for Diamond Blackfan anemia at age of 4: a case report.Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line.GATA1 gene variants associated with thrombocytopenia and anemia.Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia

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P2860

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

http://www.wikidata.org/entity/Q36384327

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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2014年學術文章

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2014年學術文章

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

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Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

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Pediatric Blood & Cancer

P1476

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype

@en

P2093

Adriana Carando

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

Anna Aspesi

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Elisa Pavesi

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Emanuela Garelli

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Irma Dianzani

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Margherita Nardi

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Paola Quarello

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Sara Parrella

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Steven R Ellis

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Ugo Ramenghi

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P2860

RPS19 mutations in patients with Diamond-Blackfan anemia

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

Alternative translation initiation site usage results in two functionally distinct forms of the GATA-1 transcription factor

Human phenotypes associated with GATA-1 mutations.

GATA1 function, a paradigm for transcription factors in hematopoiesis

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

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.

Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

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1319-1321

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scholarly article

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10.1002/PBC.24944

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7

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61

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2014-01-22T00:00:00Z

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24453067

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4684094

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