Foetal haemoglobin, erythrocytes containing foetal haemoglobin, and hematological features in congolese patients with sickle cell anaemia [0.03%]
刚果镰状细胞贫血患者的胎儿血红蛋白、含有胎儿血红蛋白的红细胞和血液学特征
L Tshilolo,V Summa,C Gregorj et al.
L Tshilolo et al.
High HbF levels and F cells are correlated with reduced morbidity and mortality in sickle cell disease (SCD). This paper was designed to determine the HbF and F cells levels in Congolese sickle cell anemia (SCA) patients in order to determi...
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing [0.03%]
Fanconi贫血症的诊断：多重连接依赖性探针扩增及PCR基Sanger测序进行突变分析
Johan J P Gille,Karijn Floor,Lianne Kerkhoven et al.
Johan J P Gille et al.
Fanconi anemia (FA) is a rare inherited disease characterized by developmental defects, short stature, bone marrow failure, and a high risk of malignancies. FA is heterogeneous: 15 genetic subtypes have been distinguished so far. A clinical...
Spatiotemporal dysfunction of the vascular permeability barrier in transgenic mice with sickle cell disease [0.03%]
镰状细胞病转基因小鼠的血管通透性屏障时空功能障碍
Samit Ghosh,Fang Tan,Solomon F Ofori-Acquah
Samit Ghosh
Sickle cell disease (SCD) is characterized by chronic intravascular hemolysis that generates excess cell-free hemoglobin in the blood circulation. Hemoglobin causes multiple endothelial dysfunctions including increased vascular permeability...
Induction of Fetal Hemoglobin In Vivo Mediated by a Synthetic γ-Globin Zinc Finger Activator [0.03%]
通过合成γ-球蛋白锌指活化剂在体内诱导胎儿血红蛋白生成
Flávia C Costa,Halyna Fedosyuk,Renee Neades et al.
Flávia C Costa et al.
Sickle cell disease (SCD) and β-thalassemia patients are phenotypically normal if they carry compensatory hereditary persistence of fetal hemoglobin (HPFH) mutations that result in increased levels of fetal hemoglobin (HbF, γ-globin chain...
Sickling cells, cyclic nucleotides, and protein kinases: the pathophysiology of urogenital disorders in sickle cell anemia [0.03%]
镰状细胞、环核苷酸和蛋白激酶：镰状细胞性贫血泌尿生殖系统异常的病理生理学
Mário Angelo Claudino,Kleber Yotsumoto Fertrin
Mário Angelo Claudino
Sickle cell anemia is one of the best studied inherited diseases, and despite being caused by a single point mutation in the HBB gene, multiple pleiotropic effects of the abnormal hemoglobin S production range from vaso-occlusive crisis, st...
Fanconi anemia proteins and their interacting partners: a molecular puzzle [0.03%]
泛FINCI尼贫血蛋白及其相互作用因子：分子拼图
Tagrid Kaddar,Madeleine Carreau
Tagrid Kaddar
In recent years, Fanconi anemia (FA) has been the subject of intense investigations, primarily in the DNA repair research field. Many discoveries have led to the notion of a canonical pathway, termed the FA pathway, where all FA proteins fu...
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing [0.03%]
应用高通量测序技术进行fanconi贫血的基因诊断分析
Najim Ameziane,Daoud Sie,Stefan Dentro et al.
Najim Ameziane et al.
Fanconi anemia (FA) is a rare genetic instability syndrome characterized by developmental defects, bone marrow failure, and a high cancer risk. Fifteen genetic subtypes have been distinguished. The majority of patients (≈85%) belong to the...
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites [0.03%]
荷兰Fanconi贫血症FANCC型 founding病例的加拿大马尼托巴门诺派患者的突变情况
Yne de Vries,Nikki Lwiwski,Marieke Levitus et al.
Yne de Vries et al.
Fanconi anemia (FA) is a recessive DNA instability disorder associated with developmental abnormalities, bone marrow failure, and a predisposition to cancer. Based on their sensitivity to DNA cross-linking agents, FA cells have been assigne...
Integrating interactive web-based technology to assess adherence and clinical outcomes in pediatric sickle cell disease [0.03%]
在儿科镰状细胞疾病中整合交互式网络技术以评估依从性及临床预后状况
Lori E Crosby,Ilana Barach,Meghan E McGrady et al.
Lori E Crosby et al.
Research indicates that the quality of the adherence assessment is one of the best predictors for improving clinical outcomes. Newer technologies represent an opportunity for developing high quality standardized assessments to assess clinic...
Hematopoietic stem cell function in a murine model of sickle cell disease [0.03%]
sickle细胞疾病小鼠模型中的血细胞干细胞功能
Elisabeth H Javazon,Mohamed Radhi,Bagirath Gangadharan et al.
Elisabeth H Javazon et al.
Previous studies have shown that the sickle environment is highly enriched for reactive oxygen species (ROS). We examined the oxidative effects of sickle cell disease on hematopoietic stem cell function in a sickle mouse model. In vitro col...