Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing [0.03%]
基于长读测序对α-珠蛋白上游调控区12645 bp大片段缺失的分子表征
Jianjiang Feng,Aiping Mao,Ye Lu et al.
Jianjiang Feng et al.
Inherited deletions of upstream regulatory elements of α-globin genes give rise to α-thalassemia, which is an autosomal recessive monogenic disease. However, conventional thalassemia target diagnosis often fails to identify these rare del...
Andrés Felipe Melo Arias,Silvia Escribano Serrat,Jorge Martínez Nieto et al.
Andrés Felipe Melo Arias et al.
The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia [0.03%]
多种基因组技术在现代下一代测序解读中的应用价值：FANCA基因三种变异导致的常染色体隐性Fanconi贫血的新病例
J Coleman,A J Green,L Bradley
J Coleman
Fanconi anaemia (FA) is a rare autosomal recessive condition resulting in changes in the FANC gene family. This report describes a case of Fanconi anaemia in a family with complex biallelic variants. The patient is a 32-year-old female diag...
Antonella Nai,Celia Cordero-Sanchez,Emanuele Tanzi et al.
Antonella Nai et al.
β-Thalassemia is a genetic form of anemia due to mutations in the β-globin gene, that leads to ineffective and extramedullary erythropoiesis, abnormal red blood cells and secondary iron-overload. The severity of the disease ranges from mi...
Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia [0.03%]
靶向钙结合蛋白1可治愈戴蒙德-布莱克范贫血的人类模型中的红细胞生成障碍
Nan Wang,Corinne LaVasseur,Rao Riaz et al.
Nan Wang et al.
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by congenital anomalies, cancer predisposition and a severe hypo-proliferative anemia. It was the first disease linked to ribosomal dysfunction and >70...
Drinking recommended daily water significantly alters haemato-biochemical parameters in prospective blood donors; a one-center quasi-experimental study in a tropical setting [0.03%]
每日推荐饮水量会显著改变献血者的血液生化指标；一项热带地区单中心准实验研究
Bright Kekeli Gbadago,Juliet Antiaye,Joseph Boachie et al.
Bright Kekeli Gbadago et al.
Background: In sub-Saharan Africa, the prevailing high ambient temperatures should warrant increased daily water intake (DWI) to prevent haemo-concentration and its potential to confound patients' laboratory data. ...
The inhibitor of MyoD Family A (I-MFA) regulates megakaryocyte lineage commitment and terminal differentiation [0.03%]
MyoD家族抑制因子A(I-MFA)调控巨核细胞谱系决定和终端分化
Jeremy S Houser,Maulin Patel,Kyle Wright et al.
Jeremy S Houser et al.
Hematopoiesis and lineage commitment are regulated by several conserved cell-intrinsic signaling pathways, including MAPKs and β-catenin/TCF/LEF. The Inhibitor of MyoD Family A (I-MFA), a transcriptional repressor and tumor suppressor gene...
Prevalence of SARS-CoV-2 in hemoglobinopathies is modified by age and race [0.03%]
年龄和种族可改变化学遗传病患者SARS-CoV-2的感染率
Jennifer K Frediani,Ezra Pak-Harvey,Richard Parsons et al.
Jennifer K Frediani et al.
Prior literature has established a positive association between sickle cell disease and risk of contracting SARS-CoV-2. Data from a cross-sectional study evaluating COVID-19 testing devices (n = 10,567) was used to examine the association b...
Inherited disorders of hemoglobin: A review of old and new diagnostic methods [0.03%]
血红蛋白遗传性紊乱的诊断方法回顾
Emily Franco,Kristine A Karkoska,Patrick T McGann
Emily Franco
The genetic regulation of hemoglobin is complex and there are a number of genetic abnormalities that result in clinically important hemoglobin disorders. Here, we review the molecular pathophysiology of hemoglobin disorders and review both ...
γ' fibrinogen levels as a biomarker of COVID-19 respiratory disease severity [0.03%]
作为COVID-19呼吸系统疾病严重程度生物标志物的γ'-纤维蛋白原水平
Lucy Z Kornblith,Bindhya Sadhanandhan,Sreepriya Arun et al.
Lucy Z Kornblith et al.
Coronavirus disease 2019 (COVID-19) is characterized by a pro-inflammatory state associated with organ failure, thrombosis, and death. We investigated a novel inflammatory biomarker, γ' fibrinogen (GPF), in 103 hospitalized patients with C...