High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases
Genetic disorders often manifest as abnormal fetal or childhood development. Copy number variations (CNVs) represent a significant genetic mechanism underlying such disorders. Despite their importance, the eff...
Authors: Yimo Zeng, Hongke Ding, Xingwang Wang, Yanlin Huang, Ling Liu, Li Du, Jian Lu, Jing Wu, Yukun Zeng, Mingqin Mai, Juan Zhu, Lihua Yu, Wei He, Fangfang Guo, Haishan Peng, Cuize Yao…
Citation: Journal of Translational Medicine 2024 22:644
Content type: Research Published on: 9 July 2024
- View Full Text
- View PDF
Tissue of origin detection for cancer tumor using low-depth cfDNA samples through combination of tumor-specific methylation atlas and genome-wide methylation density in graph convolutional neural networks
Cell free DNA (cfDNA)-based assays hold great potential in detecting early cancer signals yet determining the tissue-of-origin (TOO) for cancer signals remains a challenging task. Here, we investigated the con...
Authors: Trong Hieu Nguyen, Nhu Nhat Tan Doan, Trung Hieu Tran, Le Anh Khoa Huynh, Phuoc Loc Doan, Thi Hue Hanh Nguyen, Van Thien Chi Nguyen, Giang Thi Huong Nguyen, Hoai-Nghia Nguyen, Hoa Giang, Le Son Tran and Minh Duy Phan
Citation: Journal of Translational Medicine 2024 22:618
Content type: Research Published on: 3 July 2024
- View Full Text
- View PDF
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort
Comprehensive next-generation sequencing is widely used for precision oncology and precision prevention approaches. We aimed to determine the yield of actionable gene variants, the capacity to uncover heredita...
Authors: I. Vanni, L. Pastorino, V. Andreotti, D. Comandini, G. Fornarini, M. Grassi, A. Puccini, E. T. Tanda, A. Pastorino, V. Martelli, L. Mastracci, F. Grillo, F. Cabiddu, A. Guadagno, S. Coco, E. Allavena…
Citation: Journal of Translational Medicine 2024 22:462
Content type: Research Published on: 15 May 2024
- View Full Text
- View PDF
Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence autosomal dominant neuromuscular disease characterized by significant clinical and genetic heterogeneity. Genetic diagnosis of FSHD remains a ...
Authors: Mingtao Huang, Qinxin Zhang, Jiao Jiao, Jianquan Shi, Yiyun Xu, Cuiping Zhang, Ran Zhou, Wenwen Liu, Yixuan Liang, Hao Chen, Yan Wang, Zhengfeng Xu and Ping Hu
Citation: Journal of Translational Medicine 2024 22:451
Content type: Research Published on: 13 May 2024
- View Full Text
- View PDF
Measurable residual disease monitoring by ddPCR in the early posttransplant period complements the traditional MFC method to predict relapse after HSCT in AML/MDS: a multicenter retrospective study
Droplet digital PCR (ddPCR) is widely applied to monitor measurable residual disease (MRD). However, there are limited studies on the feasibility of ddPCR-MRD monitoring after allogeneic hematopoietic stem cel...
Authors: Weihao Chen, Jingtao Huang, Yeqian Zhao, Luo Huang, Zhiyang Yuan, Miner Gu, Xiaojun Xu, Jimin Shi, Yi Luo, Jian Yu, Xiaoyu Lai, Lizhen Liu, Huarui Fu, Chenhui Bao, Xin Huang, Zhongzheng Zheng…
Citation: Journal of Translational Medicine 2024 22:410
Content type: Research Published on: 30 April 2024
- View Full Text
- View PDF
A PCR-independent approach for mtDNA enrichment and next-generation sequencing: comprehensive evaluation and clinical application
Sequencing the mitochondrial genome has been increasingly important for the investigation of primary mitochondrial diseases (PMD) and mitochondrial genetics. To overcome the limitations originating from PCR-ba...
Authors: Dong Liang, Lin Zhu, Yuqing Zhu, Mingtao Huang, Ying Lin, Hang Li, Ping Hu, Jun Zhang, Bin Shen and Zhengfeng Xu
Citation: Journal of Translational Medicine 2024 22:386
Content type: Methodology Published on: 25 April 2024
- View Full Text
- View PDF
High somatic mutations in circulating tumor DNA predict response of metastatic pancreatic ductal adenocarcinoma to first-line nab-paclitaxel plus S-1: prospective study
We previously showed that the nab-paclitaxel plus S-1 (NPS) regimen had promising effects against metastatic pancreatic ducal adenocarcinoma (mPDAC), whose efficacy however could not be precisely predicted by ...
Authors: Lei Huang, Yao Lv, Shasha Guan, Huan Yan, Lu Han, Zhikuan Wang, Quanli Han, Guanghai Dai and Yan Shi
Citation: Journal of Translational Medicine 2024 22:184
Content type: Research Published on: 20 February 2024
- View Full Text
- View PDF
A benchmarking framework for the accurate and cost-effective detection of clinically-relevant structural variants for cancer target identification and diagnosis
Accurate clinical structural variant (SV) calling is essential for cancer target identification and diagnosis but has been historically challenging due to the lack of ground truth for clinical specimens. Meanw...
Authors: Guiwu Zhuang, Xiaotao Zhang, Wenjing Du, Libin Xu, Jiyong Ma, Haitao Luo, Hongzhen Tang, Wei Wang, Peng Wang, Miao Li, Xu Yang, Dongfang Wu and Shencun Fang
Citation: Journal of Translational Medicine 2024 22:65
Content type: Research Published on: 16 January 2024
- View Full Text
- View PDF
A comparative study on ctDNA and tumor DNA mutations in lung cancer and benign cases with a high number of CTCs and CTECs
Liquid biopsy provides a non-invasive approach that enables detecting circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) using blood specimens and theoretically benefits early finding primary tum...
Authors: Jianzhu Xie, Binjie Hu, Yanping Gong, Sijia He, Jun Lin, Qian Huang and Jin Cheng
Citation: Journal of Translational Medicine 2023 21:873
Content type: Research Published on: 1 December 2023
- View Full Text
- View PDF
Exploring the efficacy and beneficial population of preimplantation genetic testing for aneuploidy start from the oocyte retrieval cycle: a real-world study
Preimplantation genetic testing for aneuploidy (PGT-A) is widely used as an embryo selection technique in in vitro fertilization (IVF), but its effectiveness and potential beneficiary populations are unclear.
Authors: Shujuan Ma, Jingnan Liao, Shuoping Zhang, Xiaoyi Yang, Berthold Hocher, Jing Tan, Yueqiu Tan, Liang Hu, Fei Gong, Pingyuan Xie and Ge Lin
Citation: Journal of Translational Medicine 2023 21:779
Content type: Research Published on: 2 November 2023
- View Full Text
- View PDF
Simultaneous diagnosis of tuberculous pleurisy and malignant pleural effusion using metagenomic next-generation sequencing (mNGS)
Metagenomic next-generation sequencing (mNGS) has become a powerful tool for pathogen detection, but the value of human sequencing reads generated from it is underestimated.
Authors: Fudong Xu, Qingfeng Wang, Nana Zhang, Xuya Xing, Zichen Liu, Kun Li, Yutong Ma, Qiuxiang Ou, Yaqiong Jia, Xuejing Chen, Chen Zhang, Junhua Pan and Nanying Che
Citation: Journal of Translational Medicine 2023 21:680
Content type: Research Published on: 30 September 2023
- View Full Text
- View PDF
Novel method for highly multiplexed gene expression profiling of circulating tumor cells (CTCs) captured from the blood of women with metastatic breast cancer
Enumeration of circulating tumor cells (CTCs) has proven clinical significance for monitoring patients with metastatic cancers. Multiplexed gene expression profiling of CTCs is a potential tool for assessing d...
Authors: Morvarid Farhang Ghahremani, Kelly Kai Yin Seto, Woohyun Cho, Michael Craig Miller, Paul Smith and David Frederick Englert
Citation: Journal of Translational Medicine 2023 21:414
Content type: Research Published on: 26 June 2023
- View Full Text
- View PDF
NIPSNAP1 directs dual mechanisms to restrain senescence in cancer cells
Although the executive pathways of senescence are known, the underlying control mechanisms are diverse and not fully understood, particularly how cancer cells avoid triggering senescence despite experiencing e...
Authors: Enyi Gao, Xiaoya Sun, Rick Francis Thorne, Xu Dong Zhang, Jinming Li, Fengmin Shao, Jianli Ma and Mian Wu
Citation: Journal of Translational Medicine 2023 21:401
Content type: Research Published on: 20 June 2023
- View Full Text
- View PDF
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic
Diagnosis of rare genetic diseases can be a long, expensive and complex process, involving an array of tests in the hope of obtaining an actionable result. Long-read sequencing platforms offer the opportunity ...
Authors: Stephanie U. Greer, Jacquelin Botello, Donna Hongo, Brynn Levy, Premal Shah, Matthew Rabinowitz, Danny E. Miller, Kate Im and Akash Kumar
Citation: Journal of Translational Medicine 2023 21:378
Content type: Research Published on: 10 June 2023
- View Full Text
- View PDF
Genomic alterations of cerebrospinal fluid cell-free DNA in leptomeningeal metastases of gastric cancer
Leptomeningeal metastases (LM) were rare in gastric cancer (GC), and GC patients with LM (GCLM) generally suffer from poor prognosis. Nevertheless, the clinical utility of cerebrospinal fluid (CSF) circulating...
Authors: Xin Chen, Kaixuan Bai, Yu Zhang, Yang Xu, Yinghao Huo, Sha Wang, Yueli Zou, Xuejiao Qi, Rongyun Guo, Qiuxiang Ou, Dengxiang Liu, Shaohua Yin, Shubo Chen and Hui Bu
Citation: Journal of Translational Medicine 2023 21:296
Content type: Research Published on: 2 May 2023
- View Full Text
- View PDF
Identification of novel cell-free RNAs in maternal plasma as preterm biomarkers in combination with placental RNA profiles
Preterm birth (PTB) is the main driver of newborn deaths. The identification of pregnancies at risk of PTB remains challenging, as the incomplete understanding of molecular mechanisms associated with PTB. Alth...
Authors: Heyue Jin, Yimin Zhang, Zhigang Fan, Xianyan Wang, Chen Rui, Shaozhen Xing, Hongmei Dong, Qunan Wang, Fangbiao Tao and Yumin Zhu
Citation: Journal of Translational Medicine 2023 21:256
Content type: Research Published on: 12 April 2023
- View Full Text
- View PDF
Noninvasive prediction of axillary lymph node status in breast cancer using promoter profiling of circulating cell-free DNA
Lymph node metastasis (LNM) is one of the most important factors affecting the prognosis of breast cancer. The accurate evaluation of lymph node status is useful to predict the outcomes of patients and guide t...
Authors: Zhi-Wei Guo, Qing Liu, Xu Yang, Geng-Xi Cai, Bo-Wei Han, Li-Min Huang, Chun-Xi Li, Zhi-Kun Liang, Xiang-Ming Zhai, Li Lin, Kun Li, Min Zhang, Tian-Cai Liu, Rui-lin Pan, Ying-Song Wu and Xue-Xi Yang
Citation: Journal of Translational Medicine 2022 20:557
Content type: Research Published on: 3 December 2022
- View Full Text
- View PDF
Clinical application of noninvasive chromosomal screening for elective single-blastocyst transfer in frozen-thawed cycles
The objective of this study was to explore the clinical application of noninvasive chromosomal screening (NICS) for elective single-blastocyst transfer (eSBT) in frozen-thawed cycles.
Authors: Rui Chen, Ni Tang, Hongzi Du, Yaxin Yao, Yangyun Zou, Jing Wang, Dunmei Zhao, Xueliang Zhou, Yang Luo, Lei Li and Yuling Mao
Citation: Journal of Translational Medicine 2022 20:553
Content type: Research Published on: 3 December 2022
- View Full Text
- View PDF
Comparison of clinical outcomes of frozen-thawed D5 and D6 blastocysts undergoing preimplantation genetic testing
This study aimed to analyze the clinical outcomes of blastocyst which undergo the preimplantation genetic testing (PGT) transplantation from frozen-thawed D5 and D6. In addition, the effect of blastocyst grade...
Authors: Guanling Yu, Shuiying Ma, Hui Liu, Yujin Liu, Haozhen Zhang, Wenjia Zhang and Keliang Wu
Citation: Journal of Translational Medicine 2022 20:545
Content type: Research Published on: 26 November 2022
- View Full Text
- View PDF
Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile
Chromosomal aneuploidy is the most common birth defect. However, the developmental mechanism and gene expression profile of fetuses with chromosomal aneuploidy are relatively unknown, and the maternal immune c...
Authors: Min Zhang, Kun Li, Shoufang Qu, Zhiwei Guo, Yuanli Wang, Xu Yang, Junhua Zhou, Guojun Ouyang, Rongtao Weng, Fenxia Li, Yingsong Wu and Xuexi Yang
Citation: Journal of Translational Medicine 2022 20:536
Content type: Research Published on: 18 November 2022
- View Full Text
- View PDF
Non-invasive preimplantation genetic testing for conventional IVF blastocysts
Previous studies suggested that non-invasive preimplantation genetic testing (niPGT) for intracytoplasmic sperm injection (ICSI) blastocysts can be used to identify chromosomal ploidy and chromosomal abnormali...
Authors: Pingyuan Xie, Shuoping Zhang, Yifang Gu, Bo Jiang, Liang Hu, Yue-qiu Tan, Yaxin Yao, Yi Tang, Anqi Wan, Sufen Cai, Yangyun Zou, Guangxiu Lu, Cheng Wan, Fei Gong, Sijia Lu and Ge Lin
Citation: Journal of Translational Medicine 2022 20:396
Content type: Research Published on: 4 September 2022
- View Full Text
- View PDF
Molecular evolutionary process of advanced gastric cancer during sequential chemotherapy detected by circulating tumor DNA
Efficacy of conventional sequential chemotherapy paradigm for advanced gastric cancer (AGC) patients has largely plateaued. Dynamic molecular changes during and after sequential chemotherapy have not been full...
Authors: Wenqi Xi, Chenfei Zhou, Fei Xu, Debin Sun, Shengzhou Wang, Yawei Chen, Jun Ji, Tao Ma, Junwei Wu, Chengfang Shangguan, Zhenggang Zhu and Jun Zhang
Citation: Journal of Translational Medicine 2022 20:365
Content type: Research Published on: 12 August 2022
- View Full Text
- View PDF
A fetal fraction enrichment method reduces false negatives and increases test success rate of fetal chromosome aneuploidy detection in early pregnancy loss
We and others have previously demonstrated that the size-selection enrichment method could remarkably improve fetal fraction (FF) in the early gestational age (GA, 12–13weeks), suggesting that 9 or 10weeks s...
Authors: Longwei Qiao, Bin Zhang, Xiaojuan Wu, Chunhua Zhang, Ying Xue, Hui Tang, Haoyu Tang, Jingye Shi, Yuting Liang, Bin Yu and Ting Wang
Citation: Journal of Translational Medicine 2022 20:345
Content type: Research Published on: 2 August 2022
- View Full Text
- View PDF
A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma screening tool?
The next generation sequencing (NGS) based non-invasive prenatal test (NIPT) has outplayed the traditional serum biochemical tests (SBT) in screen of fetal aneuploidies with a high sensitivity and specificity....
Authors: Peng Dai, Yanfeng Yang, Ganye Zhao, Zhiqiang Gu, Huanan Ren, Shuang Hu, Ning Liu, Weimeng Jiao, Jinfang Li and Xiangdong Kong
Citation: Journal of Translational Medicine 2022 20:269
Content type: Research Published on: 15 June 2022
- View Full Text
- View PDF
Fetal growth restriction: associated genetic etiology and pregnancy outcomes in a tertiary referral center
The etiology of fetal growth restriction (FGR) is complex and currently, there is a paucity of research about the genetic etiology of fetal growth restriction. We investigated the genetic associations and preg...
Authors: Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Shiyi Xu, Xianguo Fu, Liangpu Xu and Hailong Huang
Citation: Journal of Translational Medicine 2022 20:168
Content type: Research Published on: 9 April 2022
- View Full Text
- View PDF
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587
Glioblastoma (GBM) is the most common and aggressive malignant primary brain tumor. E3 ligases play important functions in glioma pathogenesis. CRISPR system offers a powerful platform for genome manipulation,...
Authors: Kun Lin, Shang-Hang Shen, Feng Lu, Pengfeng Zheng, Shizhong Wu, Jingwei Liao, Xiaohang Jiang, Guangming Zeng and De Wei
Citation: Journal of Translational Medicine 2022 20:96
Content type: Research Published on: 19 February 2022
- View Full Text
- View PDF
Clinical utility of cerebrospinal fluid-derived circular RNAs in lung adenocarcinoma patients with brain metastases
Free circular RNAs(circRNAs) escaping from primary lesion of cancer to brain are strictly regulated by blood–brain barrier and therefore cerebrospinal fluid (CSF) circRNAs have potential advantage in exploring...
Authors: Zhen Wang, Ruoying Yu, Xiaoxi Chen, Hua Bao, Ran Cao, An-Na Li, Qiuxiang Ou, Hai-Yan Tu, Qing Zhou, Xue Wu, Zhi-Bo Lin and Yi-Long Wu
Citation: Journal of Translational Medicine 2022 20:74
Content type: Research Published on: 5 February 2022
- View Full Text
- View PDF
Prediction of occult tumor progression via platelet RNAs in a mouse melanoma model: a potential new platform for early detection of cancer
Cancer screening provides the opportunity to detect cancer early, ideally before symptom onset and metastasis, and offers an increased opportunity for a better prognosis. The ideal biomarkers for cancer screen...
Authors: Yue Yin, Ruilan Jiang, Mingwang Shen, Zhaofang Li, Ni Yan, Junqiao Feng, Hong Jiang, Jiaxin Lv, Lijuan Shi, Lina Wang, Xi Liu, Kaiyun Zhang and Di Chen
Citation: Journal of Translational Medicine 2022 20:71
Content type: Research Published on: 5 February 2022
- View Full Text
- View PDF
Evaluation of exosomal non-coding RNAs in cancer using high-throughput sequencing
Clinical oncologists need more reliable and non-invasive diagnostic and prognostic biomarkers to follow-up cancer patients. However, the existing biomarkers are often invasive and costly, emphasizing the need ...
Authors: Kamran Hosseini, Maryam Ranjbar, Abbas Pirpour Tazehkand, Parina Asgharian, Soheila Montazersaheb, Vahideh Tarhriz and Tohid Ghasemnejad
Citation: Journal of Translational Medicine 2022 20:30
Content type: Review Published on: 15 January 2022
- View Full Text
- View PDF
Clinical efficiency of simultaneous CNV-seq and whole-exome sequencing for testing fetal structural anomalies
Birth defects are responsible for approximately 7% of neonatal deaths worldwide by World Health Organization in 2004. Many methods have been utilized for examining the congenital anomalies in fetuses. This stu...
Authors: Xinlin Chen, Yulin Jiang, Ruiguo Chen, Qingwei Qi, Xiujuan Zhang, Sheng Zhao, Chaoshi Liu, Weiyun Wang, Yuezhen Li, Guoqiang Sun, Jieping Song, Hui Huang, Chen Cheng, Jianguang Zhang, Longxian Cheng and Juntao Liu
Citation: Journal of Translational Medicine 2022 20:10
Content type: Research Published on: 3 January 2022
- View Full Text
- View PDF
Chromosome aneuploidy analysis in embryos derived from in vivo and in vitro matured human oocytes
In vitro oocyte maturation (IVM) is being increasingly approached in assisted reproductive technology (ART). This study aimed to evaluate the quality of embryos generated by in-vitro matured immature follicles...
Authors: Jianhua Li, Jing Chen, Tiecheng Sun, Shuiwen Zhang, Tingting Jiao, Ri-Cheng Chian, Youzhu Li and Ye Xu
Citation: Journal of Translational Medicine 2021 19:416
Content type: Research Published on: 9 October 2021
- View Full Text
- View PDF
Applying low coverage whole genome sequencing to detect malignant ovarian mass
To evaluate whether low coverage whole genome sequencing is suitable for the detection of malignant pelvic mass and compare its diagnostic value with traditional tumor markers. We enrolled 63 patients with a p...
Authors: Ming Chen, Pengqiang Zhong, Mengzhi Hong, Jinfeng Tan, Xuegao Yu, Hao Huang, Juan Ouyang, Xiaoping Lin and Peisong Chen
Citation: Journal of Translational Medicine 2021 19:369
Content type: Research Published on: 26 August 2021
- View Full Text
- View PDF
Molecular characteristics and clinical outcomes of complex ALK rearrangements identified by next-generation sequencing in non-small cell lung cancers
Complex kinase rearrangement, a mutational process involving one or two chromosomes with clustered rearrangement breakpoints, interferes with the accurate detection of kinase fusions by DNA-based next-generati...
Authors: Peiyi Xia, Lan Zhang, Pan Li, Enjie Liu, Wencai Li, Jianying Zhang, Hui Li, Xiaoxing Su and Guozhong Jiang
Citation: Journal of Translational Medicine 2021 19:308
Content type: Research Published on: 16 July 2021
- View Full Text
- View PDF
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy
Inherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas t...
Authors: Mingmin Li, Shuang Xia, Lan Xu, Hong Tan, Junqing Yang, Zejia Wu, Xuyu He and Liwen Li
Citation: Journal of Translational Medicine 2021 19:189
Content type: Research Published on: 3 May 2021
- View Full Text
- View PDF
Extracellular vesicles isolated by size-exclusion chromatography present suitability for RNomics analysis in plasma
Extracellular vesicles (EVs), known as cell-derived membranous structures harboring a variety of biomolecules, have been widely used in liquid biopsy. Due to the complex biological composition of plasma, plasm...
Authors: Yang Yang, Yaojie Wang, Sisi Wei, Chaoxi Zhou, Jiarui Yu, Guiying Wang, Wenxi Wang and Lianmei Zhao
Citation: Journal of Translational Medicine 2021 19:104
Content type: Research Published on: 12 March 2021
- View Full Text
- View PDF
One-tube SARS-CoV-2 detection platform based on RT-RPA and CRISPR/Cas12a
COVID-19 has spread rapidly around the world, affecting a large percentage of the population. When lifting certain mandatory measures for an economic restart, robust surveillance must be established and implem...
Authors: Yangyang Sun, Lei Yu, Chengxi Liu, Shanting Ye, Wei Chen, Dechang Li and Weiren Huang
Citation: Journal of Translational Medicine 2021 19:74
Content type: Research Published on: 16 February 2021
- View Full Text
- View PDF
Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer
Currently, there is no reliable blood-based marker to track tumor recurrence in endometrial cancer (EC) patients. Liquid biopsies, specifically, circulating tumor DNA (ctDNA) analysis emerged as a way to monit...
Authors: Weiwei Feng, Nan Jia, Haining Jiao, Jun Chen, Yan Chen, Yueru Zhang, Menghan Zhu, Chongying Zhu, Lifei Shen and Wenqing Long
Citation: Journal of Translational Medicine 2021 19:51
Content type: Research Published on: 3 February 2021
- View Full Text
- View PDF
Qualitative and quantitative comparison of cell-free DNA and cell-free fetal DNA isolation by four (semi-)automated extraction methods: impact in two clinical applications: chimerism quantification and noninvasive prenatal diagnosis
Non-invasive molecular analysis of cell-free DNA (cfDNA) became a sensitive biomarker for monitoring organ transplantation or for detection of fetal DNA (cffDNA) in noninvasive prenatal test. In this study, we...
Authors: Pascal Pedini, Hajer Graiet, Laurine Laget, Lugdivine Filosa, Jade Chatron, Nicem Cherouat, Jacques Chiaroni, Lucas Hubert, Coralie Frassati and Christophe Picard
Citation: Journal of Translational Medicine 2021 19:15
Content type: Methodology Published on: 6 January 2021
- View Full Text
- View PDF
Different expression pattern of human cytomegalovirus-encoded microRNAs in circulation from virus latency to reactivation
Human cytomegalovirus (HCMV) is a beta-hersvirinae that has a high latent infection rate worldwide and can cause serious consequences in immunocompromised patients when reactivation; however, the mechanism of ...
Authors: Wanqing Zhou, Cheng Wang, Meng Ding, Yuying Bian, Yujie Zhong, Han Shen, Junjun Wang, Chen-Yu Zhang and Chunni Zhang
Citation: Journal of Translational Medicine 2020 18:469
Content type: Research Published on: 9 December 2020
- View Full Text
- View PDF
Detection of novel coronavirus (SARS-CoV-2) RNA in peripheral blood specimens
The latest outbreak of pneumonia caused by SARS-CoV-2 presents a significant challenge to global public health and has a major impact on clinical microbiology laboratories. In some situations, such as patients...
Authors: Marjan Azghandi and Mohammad Amin Kerachian
Citation: Journal of Translational Medicine 2020 18:412
Content type: Commentary Published on: 2 November 2020
- View Full Text
- View PDF
Necessity for detection of SARS-CoV-2 RNA in multiple types of specimens for the discharge of the patients with COVID-19
The SARS-CoV-2 RNA was detected positive again after discharged from hospital in some COVID-19 patients, with or without clinical symptoms such as fever or dry cough.
Authors: Yongqing Tong, Anyu Bao, Hongbing Chen, Jingtao Huang, Zhihua Lv, Lina Feng, Yun Cheng, Youna Wang, Li Bai, Wenlong Rao, Hongyun Zheng, Zegang Wu, Bin Qiao, Zhijun Zhao, Huiming Wang and Yan Li
Citation: Journal of Translational Medicine 2020 18:411
Content type: Research Published on: 2 November 2020
- View Full Text
- View PDF
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors
Circulating tumor DNA (ctDNA) offers a convenient way to monitor tumor progression and treatment response. Because tumor mutational profiles are highly variable from person to person, a fixed content panel may...
Authors: Jiaping Li, Wei Jiang, Jinwang Wei, Jianwei Zhang, Linbo Cai, Minjie Luo, Zhan Wang, Wending Sun, Shengzhou Wang, Chen Wang, Chun Dai, Jun Liu, Guan Wang, Jiping Wang, Qiang Xu and Yanhong Deng
Citation: Journal of Translational Medicine 2020 18:293
Content type: Research Published on: 1 August 2020
- View Full Text
- View PDF
Cross validated serum small extracellular vesicle microRNAs for the detection of oropharyngeal squamous cell carcinoma
Oropharyngeal squamous cell carcinoma (OPSCC) is often diagnosed at an advanced stage because the disease often causes minimal symptoms other than metastasis to neck lymph nodes. Better tools are required to a...
Authors: G. C. Mayne, C. M. Woods, N. Dharmawardana, T. Wang, S. Krishnan, J. C. Hodge, A. Foreman, S. Boase, A. S. Carney, E. A. W. Sigston, D. I. Watson, E. H. Ooi and D. J. Hussey
Citation: Journal of Translational Medicine 2020 18:280
Content type: Research Published on: 10 July 2020
The Correction to this article has been published in Journal of Translational Medicine 2022 20:282
- View Full Text
- View PDF
MicroRNA-181a as novel liquid biopsy marker of central nervous system involvement in pediatric acute lymphoblastic leukemia
Refractory central nervous system (CNS) involvement is among the major causes of therapy failure in childhood acute leukemia. Applying contemporary diagnostic methods, CNS disease is often underdiagnosed. To e...
Authors: Bálint Egyed, Nóra Kutszegi, Judit C. Sági, András Gézsi, Andrea Rzepiel, Tamás Visnovitz, Péter Lőrincz, Judit Müller, Marianna Zombori, Csaba Szalai, Dániel J. Erdélyi, Gábor T. Kovács and Ágnes F. Semsei
Citation: Journal of Translational Medicine 2020 18:250
Content type: Research Published on: 22 June 2020
- View Full Text
- View PDF
Clinical application and evaluation of metagenomic next-generation sequencing in suspected adult central nervous system infection
Accurate etiology diagnosis is crucial for central nervous system infections (CNS infections). The diagnostic value of metagenomic next-generation sequencing (mNGS), an emerging powerful platform, remains to b...
Authors: Yi Zhang, Peng Cui, Hao-Cheng Zhang, Hong-Long Wu, Ming-Zhi Ye, Yi-Min Zhu, Jing-Wen Ai and Wen-Hong Zhang
Citation: Journal of Translational Medicine 2020 18:199
Content type: Research Published on: 13 May 2020
- View Full Text
- View PDF
Optimization of small RNA library preparation protocol from human urinary exosomes
Sequencing of miRNAs isolated from exosomes has great potential to identify novel disease biomarkers, but exosomes have low amount of RNA, hindering adequate analysis and quantification. Here, we have assessed...
Authors: Dolores Olivares, Javier Perez-Hernandez, Daniel Perez-Gil, Felipe J. Chaves, Josep Redon and Raquel Cortes
Citation: Journal of Translational Medicine 2020 18:132
Content type: Methodology Published on: 18 March 2020
- View Full Text
- View PDF
Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution
NGS from plasma samples in non-squamous cell lung carcinoma (NSCC) can aid in the detection of actionable genomic alterations. However, the absolute clinical value of NGS in liquid biopsy (LB) made at baseline...
Authors: Simon Heeke, Véronique Hofman, Marius Ilié, Maryline Allegra, Virginie Lespinet, Olivier Bordone, Jonathan Benzaquen, Jacques Boutros, Michel Poudenx, Salomé Lalvée, Virginie Tanga, Carole Salacroup, Christelle Bonnetaud, Charles-Hugo Marquette and Paul Hofman
Citation: Journal of Translational Medicine 2020 18:87
Content type: Research Published on: 17 February 2020
- View Full Text
- View PDF
Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
Retinitis Pigmentosa (RP) is a clinically and genetically heterogeneous disorder that results in inherited blindness. Despite the large number of genes identified, only ~ 60% of cases receive a genetic diagnos...
Authors: María González-del Pozo, Elena Fernández-Suárez, Marta Martín-Sánchez, Nereida Bravo-Gil, Cristina Méndez-Vidal, Enrique Rodríguez-de la Rúa, Salud Borrego and Guillermo Antiñolo
Citation: Journal of Translational Medicine 2020 18:73
Content type: Research Published on: 12 February 2020
- View Full Text
- View PDF
CLEAR: coverage-based limiting-cell experiment analysis for RNA-seq
Direct cDNA preamplification protocols developed for single-cell RNA-seq have enabled transcriptome profiling of precious clinical samples and rare cell populations without the need for sample pooling or RNA e...
Authors: Logan A. Walker, Michael G. Sovic, Chi-Ling Chiang, Eileen Hu, Jiyeon K. Denninger, Xi Chen, Elizabeth D. Kirby, John C. Byrd, Natarajan Muthusamy, Ralf Bundschuh and Pearlly Yan
Citation: Journal of Translational Medicine 2020 18:63
Content type: Research Published on: 10 February 2020
- View Full Text
- View PDF
Rapid diagnosis and comprehensive bacteria profiling of sepsis based on cell-free DNA
Sepsis remains a major challenge in intensive care units, causing unacceptably high mortality rates due to the lack of rapid diagnostic tools with sufficient sensitivity. Therefore, there is an urgent need to ...
Authors: Pei Chen, Shuo Li, Wenyuan Li, Jie Ren, Fengzhu Sun, Rui Liu and Xianghong Jasmine Zhou
Citation: Journal of Translational Medicine 2020 18:5
Content type: Research Published on: 6 January 2020
- View Full Text
- View PDF