Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa [0.03%]
在常染色体隐性视网膜色素变性的患者中鉴定出一种新的CYP4V2复合杂合变异型
Tongdan Zou,Ting Wang,Fangyuan Zhen et al.
Tongdan Zou et al.
Retinitis pigmentosa (RP) belongs to a family of retinal disorders that is characterized by the progressive degeneration of rod and cone photoreceptors. The aim of the present study was to screen for possible disease-causing genetic variant...
Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report [0.03%]
MSH2错义突变的林奇综合征家系及病例报告
Zornitsa Bogomilova Kamburova,Savelina Lubenova Popovska,Katya Stefanova Kovacheva et al.
Zornitsa Bogomilova Kamburova et al.
Lynch syndrome (LS) is an autosomal dominant cancer syndrome. It can be caused by mutations of several genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3, which are responsible for DNA mismatch repair, and LS affects 3-5% of patients wi...
Case Reports
Biomedical reports. 2022 May;16(5):39. DOI:10.3892/br.2022.1522 2022
Therapeutic impact and routine application of next-generation sequencing: A single institute study [0.03%]
高通量测序的临床应用及意义——单中心研究
Rocío Hernández-Pacheco Acosta,María Del Carmen Damas Fuentes,Nicolás Gallego Pena et al.
Rocío Hernández-Pacheco Acosta et al.
Genomic sequencing of tumor tissues provides information on actionable gene aberrations that have diagnostic and therapeutic significance and may guide clinical management through the use of targeted therapies. The indications for these tec...
Genetic association between miR-27a and miR-449b polymorphisms and susceptibility to diabetes mellitus [0.03%]
miR-27a和miR-449b基因多态性与糖尿病易感性的遗传关联研究
Youngmi Choi,Seung-Ho Hong
Youngmi Choi
Various mutations in microRNAs (miRs) are associated with the pathogenesis of several diseases including cancers and vascular diseases. The present study aimed to investigate the potential association between miR-27a A>G (rs895819) and miR-...
Assessing the biological effects of microwave irradiation on human semen in vitro and determining the role of seminal plasma polyamines in this process [0.03%]
体外评估微波辐射对人精液的生物效应及精浆多胺的作用机制
Maria V Ploskonos,Dilyara F Zulbalaeva,Nuriya R Kurbangalieva et al.
Maria V Ploskonos et al.
The aim of the present study was to investigate the influence of millimeter-wave electromagnetic (MW) irradiation on normal and pathological human sperm in vitro, and to evaluate a possible role of polyamines (PA) in this process. The stabi...
OCT angiography, RNFL and the visual field at different values of intraocular pressure [0.03%]
不同眼压下的OCT血管造影、RNFL和视野变化
Jakub Kral,Jan Lestak,Elena Nutterova
Jakub Kral
The aim of the present study was to investigate the relationship between intraocular pressure (IOP), vessel density (VD), retinal nerve fiber layer (RNFL) parameters and overall defect (OD) of the visual field in eyes where antiglaucoma tre...
Clinical characteristics and predictors of death among hospitalized patients infected with SARS-CoV-2 in Sicily, Italy: A retrospective observational study [0.03%]
意大利西西里岛新型冠状病毒肺炎(COVID-19)住院患者的临床特征和死亡预测因素：一项回顾性观察研究
Federica Cosentino,Vittoria Moscatt,Andrea Marino et al.
Federica Cosentino et al.
Since late December 2019, severe acute respiratory syndrome coronavirus 2 has spread across the world, which resulted in the World Health Organization declaring a global pandemic. Coronavirus disease 2019 (COVID-19) presents a highly variab...
Profile of vitamin D receptor gene polymorphism TaqI in patients with periodontitis [0.03%]
牙周病患者维生素D受体基因多态位点TaqI型分布特征分析
Nurlindah Hamrun,Muhammad Ruslin,Erni Marlina et al.
Nurlindah Hamrun et al.
The present study aimed to assess the incidence of the vitamin D receptor (VDR) gene polymorphism TaqI in patients with periodontitis, and the potential association of this polymorphism with the severity of the disease. This was a case-cont...
Phenotypical, functional and transcriptomic comparison of two modified methods of hepatocyte differentiation from human induced pluripotent stem cells [0.03%]
人诱导多能干细胞向肝细胞分化两种方案的表型、功能和转录组学比较研究
Rong Li,Yang Zhao,Jeffrey J Yourick et al.
Rong Li et al.
Directed differentiation of human induced pluripotent stem cells (iPSCs) into hepatocytes could provide an unlimited source of liver cells, and therefore holds great promise for regenerative medicine, disease modeling, drug screening and to...
Evaluation of the presence of TRPC6 channels in human vessels: A pilot study using immunohistochemistry [0.03%]
人血管中TRPC6通道的存在评估：一项使用免疫组化技术的初步研究
Jan Abdinghoff,Davide Servello,Tobias Jacobs et al.
Jan Abdinghoff et al.
The TRPC6 channel is permeable to calcium ions as well as other ions and plays an important role in the physiology and pathophysiology of vessels. Findings from animal and cell culture experiments have shown its involvement in important vas...