Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease [0.03%]
葡萄糖脑苷脂病患者的浆细胞样树突状细胞固有功能改变可经酶替代治疗恢复
Cécile Braudeau,Julie Graveleau,Marie Rimbert et al.
Cécile Braudeau et al.
Background: Gaucher disease (GD) is caused by an autosomal-recessive deficiency of β-glucocerebrosidase leading to an accumulation of glucosylceramide in monocytes/macrophage lineage. We analyzed immune cells and especia...
Serial echocardiographic left ventricular ejection fraction measurements: a tool for detecting thalassemia major patients at risk of cardiac death [0.03%]
serial测量的左心室射血分数：一个检测出地中海贫血死亡高危患者的方法
Aurelio Maggio,Angela Vitrano,Giuseppina Calvaruso et al.
Aurelio Maggio et al.
Cardiac damage remains a major cause of mortality among patients with thalassemia major. The detection of a lower cardiac magnetic resonance T2* (CMR-T2*) signal has been suggested as a powerful predictor of the subsequent development of he...
Mahmoud M Sirdah,Jürgen Sievertsen,Mansour S Al-Yazji et al.
Mahmoud M Sirdah et al.
Background: β-Thalassemia is a disorder caused by mutations at the hemoglobin β-gene (HBB) locus. Its most important manifestation, the major form, is characterized by severe hypochromic and hemolytic anemia and is inhe...
Circulating microenvironment of CLL: are nurse-like cells related to tumor-associated macrophages? [0.03%]
慢性淋巴细胞白血病的循环微环境：护理样细胞与肿瘤相关巨噬细胞有关吗？
Agata A Filip,Bogumiła Ciseł,Dorota Koczkodaj et al.
Agata A Filip et al.
B-cell chronic lymphocytic leukemia (B-CLL) is one of the most common hematologic malignancies in Western countries. Accumulation of leukemic lymphocytes in peripheral blood, bone marrow and secondary lymphatic organs of CLL patients is due...
Identification and characterization of novel full-length cDNAs expressed during hematopoietic lineage-specific differentiation of cultured human peripheral blood mononuclear cells [0.03%]
人外周血单个核细胞体外定向分化中新型全长cDNA的鉴定与分析
Chutima Kumkhaek,Wenli Liu,Griffin P Rodgers
Chutima Kumkhaek
A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia [0.03%]
FGB基因的新突变:c.1105C>T使Bβ Q339密码子变为终止密码子导致低纤维蛋白血症
Rita Marchi,Stephen Brennan,Michael Meyer et al.
Rita Marchi et al.
Routine coagulation tests on a 14year-old male with frequent epistaxis showed a prolonged thrombin time together with diminished functional (162mg/dl) and gravimetric (122mg/dl) fibrinogen concentrations. His father showed similar aberrant ...
Molecular defect of 'Prothrombin Amrita': substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin [0.03%]
'阿密特丝'抗凝蛋白酶原分子缺陷：蛋白酶原中一个接近Na+结合区的精氨酸被谷氨酰胺置换(精氨酸553至谷氨酰胺)
Sajini Sivasundar,Akash Thomas Oommen,Ohm Prakash et al.
Sajini Sivasundar et al.
MicroRNA deregulation in polycythemia vera and essential thrombocythemia patients [0.03%]
真性红细胞增多症和原发性血小板增多症患者中microRNA的失调节
Huichun Zhan,Christopher Cardozo,Wayne Yu et al.
Huichun Zhan et al.
Polycythemia vera (PV) and essential thrombocythemia (ET) are the two most common myeloproliferative neoplasms. The same JAK2(V617F) mutation can be found in both disorders and is able to recapitulate many of the phenotypic abnormalities of...
Eli Ben Chetrit,Roy N Alcalay,Bettina Steiner-Birmanns et al.
Eli Ben Chetrit et al.
Background: Previous reports have shown an increased risk for Parkinson disease (PD) among type 1 Gaucher disease (GD) patients. However, the number of the reported cases of GD/PD is small and it is unknown whether certai...
Iwona M Konieczna,Swapna Panuganti,Teresa A DeLuca et al.
Iwona M Konieczna et al.
Elucidating ways to enhance megakaryopoiesis in vivo would have therapeutic applications for thrombocytopenia and transfusion medicine. Nicotinamide has been shown to enhance endomitosis in megakaryocytes cultured in vitro, suggesting that ...