The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background [0.03%]
BCL11A基因多态性对β珠蛋白生成障碍性贫血表型的影响可能受β珠蛋白基因簇调控区和/或Xmn I-HBG2基因型背景的作用
Maryam Neishabury,Fahimeh Zamani,Elahe Keyhani et al.
Maryam Neishabury et al.
To study the influence of the β globin locus control region (LCR) genotypic background on the phenotype modifying role of BCL11A polymorphisms, 100 cases of thalassemia, 48 homozygous for the A allele and 52 homozygous for the G allele at ...
Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm [0.03%]
台湾患者因红细胞转录因子EKLF/KLF1突变导致的先天性骨髓内无效生成性贫血型IV：所有已报道病例回顾及临床诊断方法的发展
Julie A Jaffray,W Beau Mitchell,Merlin Nithya Gnanapragasam et al.
Julie A Jaffray et al.
KLF1 is an erythroid specific transcription factor that is involved in erythroid lineage commitment, globin switching and terminal red blood cell maturation. Various mutations of KLF1 have been identified in humans, which have led to both b...
Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH [0.03%]
应用高分辨率阵列 comparative genomic hybridization 检测珠蛋白生成障碍性贫血患者的基因组重排
Ariane Blattner,Saskia Brunner-Agten,Katja Ludin et al.
Ariane Blattner et al.
Approximately 80% of α-thalassemia mutations are deletions in the α-globin cluster on chromosome 16 and about 10% of β-thalassemia mutations are deletions in the β-globin gene cluster on chromosome 11. Larger deletions involving the β-...
A novel fusion gene and a common α(0)-thalassemia deletion cause hemoglobin H disease in a Chinese family [0.03%]
一个新的融合基因和常见的α(0)地中海贫血缺失在中国家庭中导致HbH病
Ji-Wei Huang,Xuan Shang,Ying Zhao et al.
Ji-Wei Huang et al.
Genetic recombination has been implicated as a mechanism that drives mutagenesis in the human globin gene clusters, either as a result of unequal crossover or gene conversion. In this paper, a novel fusion gene was identified in a Chinese g...
N-ethylmaleimide activates a Cl(-)-independent component of K(+) flux in mouse erythrocytes [0.03%]
N-乙基马来酰亚胺激活了小鼠红细胞中的氯离子独立的钾离子通量成分
Boris E Shmukler,Ann Hsu,Jessica Alves et al.
Boris E Shmukler et al.
The K-Cl cotransporters (KCCs) of mouse erythrocytes exhibit higher basal activity than those of human erythrocytes, but are similarly activated by cell swelling, by hypertonic urea, and by staurosporine. However, the dramatic stimulation o...
Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype [0.03%]
阿拉伯-印度表型镰形细胞性贫血胎儿血红蛋白遗传学研究
Duyen Ngo,Harold Bae,Martin H Steinberg et al.
Duyen Ngo et al.
Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) β-globin gene (HBB) cluster haplotype. In this haplotype of sickle cell anemia, fetal hemoglobin (HbF) levels ar...
Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II [0.03%]
SEC23B基因低渗性突变可解释先天性红系无效增生性贫血II型的轻型表型
Roberta Russo,Concetta Langella,Maria Rosaria Esposito et al.
Roberta Russo et al.
Congenital dyserythropoietic anemia type II, a recessive disorder of erythroid differentiation, is due to mutations in SEC23B, a component of the core trafficking machinery COPII. In no case homozygosity or compound heterozygosity for nonse...
Role of vitamin D receptor (VDR) polymorphisms in susceptibility to multiple myeloma in ethnic Kashmiri population [0.03%]
维生素D受体(VDR)多态性在族裔克什米尔人多发性骨髓瘤易感性中的作用
Syed Shafia,Iqbal Qasim,Sheikh Aejaz Aziz et al.
Syed Shafia et al.
Background: Vitamin D regulates many biological processes including bone metabolism, innate immune response, and cell proliferation and differentiation by binding to its receptor VDR. Vitamin D receptor (VDR) gene polymor...
Hematopoietic stem cells are pluripotent and not just "hematopoietic" [0.03%]
造血干细胞是多能干细胞，而不仅仅是“造血”干细胞
Makio Ogawa,Amanda C LaRue,Meenal Mehrotra
Makio Ogawa
Over a decade ago, several preclinical transplantation studies suggested the striking concept of the tissue-reconstituting ability (often referred to as HSC plasticity) of hematopoietic stem cells (HSCs). While this heralded an exciting tim...
William Simon
William Simon