Clinical Features, Mutations and Treatment of 104 Patients of Diamond-Blackfan Anemia in China

来源 :The 2nd International Symposium on Erythrocyte Biology(2016第 | 被引量 : 0次 | 上传用户：logan_lxh

【摘要】

：

Objectives: Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome (IBMFS) that is characterized by a paucity of erythroid progenitors,congenital malformation and cancer predisposi

【作者】

：

Yang Wan Xiaojuan Chen Wenbin An Min Ruan Jingliao Zhang Lixian Chang Ranran Zhang Shuai Zhu Yingchi Zhang Wenyu Yang Ye Guo Weiping Yuan Yao Zou Yumei Chen Xiaofan Zhu

【机构】

：

Pediatric Blood Disease Center, State Key Laboratory of Experimental Hematology, Institute of Hemato

【出处】

：

The 2nd International Symposium on Erythrocyte Biology(2016第

【发表日期】

：

2016年10期

【关键词】

：

Diamond-Blackfan anemia ribosomopathy inherited bone marrow failure syndrome rib

下载到本地 , 更方便阅读

下载此文赞助VIP

声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架

论文部分内容阅读

其他文献

Immunological Complications of Transfusions

An estimated 15 million units of whole blood,red blood cell and platelets are transfused in the United States alone each year.Despite the therapeutic benefits of transfusions,some patients develop ant

会议

Does Longer Red Cell Storage Affect Clinical Outcomes?

Although it has long been recognized that red cells stored in preservative-anticoagulant solutions undergo metabolic and morphologic changes which may shorten red cell survival,current solutions permi

会议

Deficiency of TET3 impairs terminal erythroid differentiation

TET family proteins (TET1,TET2 and TET3) have recently emerged as important epigenetic modifiers by catalyzing the conversion of 5-methylcytosine (5mc) to 5-hydroxymethylcytosine (5hmc).

会议

TET3erythropoiesisapoptosisenucleation

Deficiency of TET2 led to expansion of dysfunctional erythroid progenitors

Erythrocyte development is a complex process which contains erythroid progenitors burst-forming unit-erythroid (BFU-E),colony-forming unit-erythroid (CFU-E) and erythroid precursors proerythroblast,ba

会议

ErythropoiesisMDSTET2CFU-Ecell proliferationapoptosis

Deficiency of spicing factor SF3B1 affects human erythropoiesis in a stage-specific manner

Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell heterogeneous disorders characterized by dysplasia of bone marrow cells and cytopenia of peripheral blood.Refractory anemia with ring

会议

ErythropoiesisMDSRARSSF3B1RNA-seq

Deficiency of splicing factor U2AF1 inhibits growth of erythroid progenitors

U2AF1 (U2AF35) is the small subunit of the U2 auxiliary factor (U2AF) which constitutes the U2 snRNP (small nuclear ribonucleoproteins) of spliceosome.

会议

ErythropoiesisMDSsplicing factorU2AF1RNA-seq

Dynamic changes of murine bone marrow, spleen and liver erythropoiesis as well as red cell parameter

Bone marrow,spleen and liver are three key erythropoietic tissues in mammals.In the mouse,it is well established that the bone marrow is involved in maintaining homeostatic erythropoiesis in adult mic

会议

Mouseerythropoiesisdynamic changered cell parameters

Function and mechanism of HES6 in human terminal erythroid differentiation

HES (hairy and enhancer of split) family is a member of the bHLH (basic helix-loop-helix) transcription factor super-family.In human,HES family consists of seven members which are HES1-7 and whose con

会议

human terminal erythroid differentiationtranscription co-factorHES6GATA1

miR-144/451 targets nuclear encoded mitochondria genes in erythropoiesis

The bicistronic microRNA locus miR-144/451 is strongly expressed during erythropoiesis and facilitates cellular maturation and responses to oxidant stress (Yu et al,Genes Dev).However,the full complem

会议

miR-144/451ErythropoiesisMitochondriaHITS-CLIP

Cab39/AMPK/mTOR pathway mediates p53-independent erythroid apoptosis in miR-144/451-/-mice upon stre

Abnormal regulation of small noncoding RNAs,or microRNAs (miRs) has been implicated in the pathophysiology of various human diseases,such as cancer,cardiovascular disease and anemia.miR-144 and-451,wh

会议

MiR-144/451erythropoiesisapoptosisCab39/AMPK/mTOR signaling

Clinical Features, Mutations and Treatment of 104 Patients of Diamond-Blackfan Anemia in China

与本文相关的学术论文