Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes [0.03%]
在中国4例无糖尿病的维生素B1反应性巨幼细胞性贫血患者中鉴定出4种SLC19A2突变
Gang Liu,Fan Yang,Bing Han et al.
Gang Liu et al.
Anita Nadkarni,Pooja Dabke,Roshan B Colah et al.
Anita Nadkarni et al.
Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees [0.03%]
两个中国家系中血管性血友病型2N与严重甲型血友病伴血管性血友病Ⅰ型的关节和黏膜出血表现相似性研究
H H Qin,Z F Xing,X F Wang et al.
H H Qin et al.
In this study, we investigated the molecular basis of two unrelated Chinese patients with hemostatic disorders. The proband of the first family had severe hemophilia A (HA) coexisting with type 1 von Willebrand disease (VWD) and the proband...
Endothelial progenitors [0.03%]
内皮前体细胞
Elvira Pelosi,Germana Castelli,Ugo Testa
Elvira Pelosi
The studies carried out during the last two decades have represented a great effort in trying to identify and define cell populations endowed with the phenotypic and functional properties of endothelial progenitors. From these studies a sce...
Multiple physical stresses induce γ-globin gene expression and fetal hemoglobin production in erythroid cells [0.03%]
多种物理压力可诱导红细胞中γ-珠蛋白基因表达和胎儿血红蛋白生成
Emily K Schaeffer,Rachel J West,Sarah J Conine et al.
Emily K Schaeffer et al.
Increased fetal hemoglobin (HbF) expression is beneficial for β-hemoglobinopathy patients; however, current inducing agents do not possess the ideal combination of efficacy, safety and ease of use. Better understanding the mechanisms invol...
Genetic heterogeneity of hemoglobin AEBart's disease: a large cohort data from a single referral center in northeast Thailand [0.03%]
泰国东北部单个转诊中心α+-地贫合并β-地贫的大样本基因多态性分析
Attawut Chaibunruang,Rossarin Karnpean,Goonnapa Fucharoen et al.
Attawut Chaibunruang et al.
AEBart's disease is a thalassemia intermedia usually characterized by the interaction of α(0)-thalassemia with either deletional or non-deletional α(+)-thalassemia in Hb E heterozygote. Genotypic and phenotypic features are heterogeneous....
Genomic analyses of RH alleles to improve transfusion therapy in patients with sickle cell disease [0.03%]
基因组学分析RH血型以改善镰状细胞病患者的输血治疗
Marion E Reid,Christine Halter Hipsky,Kim Hue-Roye et al.
Marion E Reid et al.
Background: Red cell (RBC) blood group alloimmunization remains a major problem in transfusion medicine. Patients with sickle cell disease (SCD) are at particularly high risk for developing alloantibodies to RBC antigens ...
Acquired von Willebrand syndrome in patients with Gaucher disease [0.03%]
Gaucher病患者的获得性von Willebrand综合征
Mirjana Mitrovic,Ivo Elezovic,Predrag Miljic et al.
Mirjana Mitrovic et al.
Although various coagulation abnormalities occur in patients with Gaucher disease (GD), von Willebrand factor (vWF) deficiency has rarely been reported. A retrospective review of six treatment naïve cases with GD and concomitant vWF defici...
New insights provided by a comparison of impaired deformability with erythrocyte oxidative stress for sickle cell disease [0.03%]
镰状细胞病患者红细胞变形能力受损与氧化应激的比较研究的新见解
Viachaslau M Barodka,Enika Nagababu,Joy G Mohanty et al.
Viachaslau M Barodka et al.
Sickle cell disease (SCD) is associated with increase in oxidative stress and irreversible membrane changes that originates from the instability and polymerization of deoxygenated hemoglobin S (HbS). The relationship between erythrocyte mem...
Expression profile of shelterin components in plasma cell disorders. Clinical significance of POT1 overexpression [0.03%]
血液瘤中 shelterin 组分的表达谱及 POT1 高表达的临床意义
Julieta Panero,Carmen Stanganelli,Jorge Arbelbide et al.
Julieta Panero et al.
The core complex of telomere-associated proteins, named the shelterin complex, plays a critical role in telomere protection and telomere length (TL) homeostasis. In this study, we have explored changes in the expression of telomere-associat...