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Article
Open AccessNovel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
Cystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two genes: SLC3A1 and SLC7A9. Cystinuria can be classified into three forms b...
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Article
Research on vibration characteristics of silicon nitride 6206 full-ceramic bearing with different pre-tightening force and oil supply rate
Full-ceramic ball bearings are widely used in aerospace, gas engines, and extreme working conditions. The research on vibration characteristics of full-ceramic ball bearings under different pre-tightening forc...
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Article
Effective rule mining of sparse data based on transfer learning
Rule mining is an important and challenging task in data mining. Although many state-of-art algorithms have been proposed on dense data, they are not effectively adaptive for sparse data, such as sparse hetero...
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Article
OShnscc: a novel user-friendly online survival analysis tool for head and neck squamous cell carcinoma based on RNA expression profiles and long-term survival information
头颈鳞癌是常见的恶性肿瘤之一, 预后较差。开发新的预后分子标志物对于改善头颈鳞癌患者的预后具有重要意义。因此, 本研究通过整合公共癌症数据库中的头颈鳞癌表达谱数据及临床生存信息, 开发了头颈鳞癌在线生存分析工具OShnscc(Online consensus Survival tool for Head and Neck Squamous Cell Carcinoma), 用于评价基因mRNA表达量与头颈鳞癌患者生...
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Article
Open AccessAn accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease
Determining the etiology of end-stage renal disease (ESRD) constitutes a great challenge in the context of renal transplantation. Evidence is lacking on the genetic findings for adult renal transplant recipien...
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Article
Open AccessDynamics of binding ability prediction between spike protein and human ACE2 reveals the adaptive strategy of SARS-CoV-2 in humans
SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) is a novel coronavirus causing the COVID-19 pandemic in 2020. High adaptive plasticity on the spike protein of SASR-CoV-2 enables it to transmit acr...
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Article
Open AccessPrevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort
Accurate interpretation of BRCA1/2 variants is critical for risk assessment and precise treatment of breast cancer (BC). Hence, the establishment of an ethnicity-based BRCA1/2 variant database of the Chinese popu...
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Open AccessFrontiers in the COVID-19 vaccines development
Novel corona virus caused pneumonia first reported in December, 2019 in Wuhan, China was later named COVID-19. Due to its special pathogenicity, COVID-19 transmitted with high speed beyond borders and has sign...
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Article
Open AccessMulti-faceted epigenetic dysregulation of gene expression promotes esophageal squamous cell carcinoma
Epigenetic landscapes can shape physiologic and disease phenotypes. We used integrative, high resolution multi-omics methods to delineate the methylome landscape and characterize the oncogenic drivers of esoph...
