Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, China [0.03%]
中国岳阳地区215137例新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查及流行病学和致病突变型分布研究
Na Cao,Danchen Xie,Xia Zhou et al.
Na Cao et al.
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a prevalent inherited metabolic disorder, affecting approximately 500 million individuals worldwide. Current neonatal screening protocols necessitate cont...
Reduced diversity in human mitogenomes from Eivissa (Balearic Islands) [0.03%]
巴利阿里群岛伊维萨人的线粒体基因组多样性降低
Laura Clara Verdesca,Julen Aizpurua-Iraola,Elisa Marí-Cardona et al.
Laura Clara Verdesca et al.
The Balearic Islands, off the NE coast of the Iberian Peninsula, have a rich and diverse history. We had previously reported that genomic diversity in one of the Balearics, Eivissa, shows the signs of a reduced effective population size and...
Genetic susceptibility shaped by biological state: beyond gene-environment interaction [0.03%]
由生物学状态决定的遗传易感性：超越基因-环境交互作用
Hui-Qi Qu,Hakon Hakonarson
Hui-Qi Qu
This mini-review proposes a state-aware approach for interpreting gene-environment interaction (G × E). Biological state is the internal condition in which genetic susceptibility becomes functional. A measured exposure may precede that sta...
miRNAProtPred: computational prediction of human miRNA binding based on seed complementarity and thermodynamic stability [0.03%]
基于种子互补和热力学稳定的人类microRNA结合的计算预测
Somenath Dutta,Manisha Pritam,Sudipta Sardar et al.
Somenath Dutta et al.
Introduction: Computational prediction of microRNA-target interactions is essential for understanding post-transcriptional regulation, yet existing tools often require manual data curation, lack comprehensive miRNA databa...
Enhancing cereal productivity via nitrogen use efficiency: from conventional breeding to modern genomics [0.03%]
从常规育种到现代组学的作物氮素利用效率改良对粮食生产的贡献——以禾本科作物为例
Anand Kumar,Pandiyan Muthuramalingam,Laxmidas Verma et al.
Anand Kumar et al.
Cereal crops constitute the primary staple foods in India and worldwide, forming the foundation of food security by supplying essential nutrients, carbohydrates, proteins and minerals that are essential for human health. Cereal productivity...
Transcriptomic analysis reveals FcγR-mediated phagocytosis as a key pathway for the anti-inflammatory action of Polygonatum sibiricum polysaccharides in loach [0.03%]
转录组分析揭示Polygonatum sibiricum多糖通过FcγR介导的吞噬作用发挥抗炎效应的重要途径——以泥鳅为模型的研究
Yue Zhao,Xiangwei Xu,Ruike Fan et al.
Yue Zhao et al.
Misgurnus anguillicaudatus (Cobitidae) is a small economic fish, which is widely distributed in ponds, reservoirs, and lakes in China. Because of its tasty meat and plentiful nutritional value, it is known as "water ginseng." Saccharide is ...
A novel ABO splice site variant underlying the A3 phenotype: immunogenetic basis and functional dissection [0.03%]
一种新的ABO剪接位点变异体及其在A3表型的免疫遗传基础和功能解析
Hong-Li Guan,Jue Hou,Jia-Liang Gao et al.
Hong-Li Guan et al.
Background: Accurate ABO blood group typing is essential for transfusion safety. However, ABO subtypes resulting from genetic variation can complicate this process. In contrast to the extensively studied exonic variants i...
Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome [0.03%]
病例报告：在一种类似于Alström综合征的纤毛病患者中鉴定出两个新的ALMS1变异型
Chun-Qiong Ran,Mei Yang,Lin Chen et al.
Chun-Qiong Ran et al.
Background: Alström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including con...
Integrative analysis identifies Hspa5 as a key regulator of the ERS/UPR-immune axis in spinal cord injury [0.03%]
整合分析鉴定HSPA5为脊髓损伤中ERS / UPR-免疫轴的关键调节因子
Guoyuan He,Aichun Yang,Hechun Xia
Guoyuan He
Background: Endoplasmic reticulum stress (ERS) and the unfolded protein response (UPR) are critical in secondary spinal cord injury (SCI), but their systematic characterization and link to immune infiltration remain uncle...
Evaluation of genomic selection to improve survival of eastern oysters infected with Perkinsus marinus [0.03%]
评估基因组选择在提高短裸枝牡蛎感染Perezus marinus后的存活率方面的效果
Thomas A Delomas,Dina A Proestou,Jessica M Small
Thomas A Delomas
Dermo disease is a chronic disease of eastern oysters infected by the protozoan parasite Perkinsus marinus. This disease often causes mortality on farms at the end of the grow-out cycle and has been identified by producers as a top concern....