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Next Generation Sequencing of megakaryocyte-erythrocyte progenitor cells (MEPs) with or without mutations in JAK2 and Ezh2

ChEBI2016-06-24 更新2026-07-12 收录

造血祖细胞基因组学

血液病分子机制

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-82072 数据链接链接失效反馈

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资源简介：

Next Generation Sequencing of megakaryocyte-erythrocyte progenitor cells (MEPs) with or without mutations in JAK2 and Ezh2

应用场景：

创建时间：

2016-06-24

血液病分子机制

细胞疾病模型

Diamond Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome with clinical features of red cell aplasia and variable developmental abnormalities. Most affected patients have heterozygous

NIAID Data Ecosystem50

Cell-Autonomous Function of Runx1 Transcriptionally Regulates Mouse Megakaryocytic Maturation

巨核细胞成熟调控

血液病分子机制

RUNX1 transcription factor (TF) is a key regulator of megakaryocytic development and when mutated is associated with familial platelet disorder and predisposition to acute myeloid leukemia (FPD-AML).

NIAID Data Ecosystem30

Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient. Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient

血液病分子机制

细胞分化转录调控

Congenital dyserythropoietic anemia (CDA) type IV is caused by a heterozygous mutation, Glu325Lys (E325K), in the KLF1 transcription factor. A molecular understanding of this disease is absent, partly

NIAID Data Ecosystem30

Combined GWAS and homozygosity for HG.

血液病分子机制

遗传病基因定位

Pelger-Huët anomaly (PHA) in humans is an autosomal dominant hematological phenotype without major clinical consequences. PHA involves a characteristic hyposegmentation of granulocytes (HG). Human PHA

NIAID Data Ecosystem50

Small ncRNA expression-profiling of blood from Hemophilia A patients identifies miR-1246 as a potential regulator of Factor 8 gene

血液病分子机制

lncRNA表达调控

Hemophilia A (HA) is a bleeding disorder caused by deficiency of functional plasma clotting factor VIII (FVIII). In addition to genetic mutations in the gene encoding FVIII (F8), there is evidence tha

NIAID Data Ecosystem30

Next Generation Sequencing of megakaryocyte-erythrocyte progenitor cells (MEPs) with or without mutations in JAK2 and Ezh2

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