Article
Biology
Priya Jarwar, Yar Muhammad Waryah, Muhammad Rafiq, Ali Muhammad Waryah
Summary: This study analyzed the association between SNP variants in CRYAA and CRYAB genes and Congenital Cataract. The results showed that the rs13053109 G > C variant in CRYAA gene is associated with increased risk of congenital cataract in infants. Haplotype analysis indicated weak linkage disequilibrium between the SNPs rs3761382, rs7278468, and rs13051039 of CRYAA gene. These findings suggest that the variation in CRYAA gene may be a risk factor for congenital cataract in infants.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Farzaneh Darbeheshti, G. Mike Makrigiorgos
Summary: Low-level tumor somatic DNA mutations in tissue and liquid biopsies have implications for metastasis, prognosis, treatment, follow-up, and early cancer detection. Next-generation sequencing and digital-PCR can detect these mutations but require specialized instrumentation, time, and resources. Enzymatic-based mutation detection provides a simple, affordable alternative for low-resource laboratories. This review discusses the traditional uses of enzymatic mutation detection and its potential applications in liquid biopsy for cancer.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Owen Higgins, Terry J. Smith
Summary: PCR is crucial for infectious disease detection, especially during the COVID-19 pandemic. Real-time multiplex detection and single-base specificity play key roles in identifying single-nucleotide polymorphisms (SNPs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Jaroslaw Goracy, Anna Bogacz, Izabela Uzar, Marlena Wolek, Malgorzata Lochynska, Pawel Zietek, Boguslaw Czerny, Aneta Cymbaluk-Ploska, Piotr Modliborski, Adam Kaminski
Summary: This study aimed to evaluate the association between NQO1 gene 609C > T polymorphism and colorectal cancer risk in the Polish population, finding that carriers of the TT genotype have an elevated risk for colorectal cancer. The analysis also revealed a significant increase in colorectal cancer risk in carriers of the TT genotype, particularly related to tumor stage and location.
Article
Chemistry, Analytical
Juny Shin, Cheulhee Jung
Summary: Early detection of rare mutations through liquid biopsy provides real-time information for cancer diagnosis, prognosis, and treatment outcomes. However, current methods like ddPCR are expensive and time-consuming, and non-specific amplification hampers accurate diagnosis of SNVs. This study introduces Soo-PCR, a practical and highly accurate method for detecting low-abundance mutations, including SNVs, with comparable reliability to ddPCR, but in under 2 hours.
Article
Nanoscience & Nanotechnology
Hai-Bo Wang, Liang Zhang, Jin-Quan Li, Xia-Yu Qian, Hai-Yan Yang, Yuan-Ping Yang, Zi-Tao Zhong
Summary: Single nucleotide polymorphism (SNP) is closely related to the susceptibility of common diseases and adverse drug reactions. The gold nanoparticle nucleic acid strip provides a low-cost and rapid visualization method for detecting cancer-related SNP sites in the CYP1A1 gene. Dual strips A and G were prepared to accurately distinguish SNP sites, and false-positive results were eliminated by optimizing the DNA length and NaCl concentration. This method showed consistent results with sequencing and is rapid, visual, false-positive-free, and cost-effective for initial screening of SNP-related diseases.
ACS APPLIED NANO MATERIALS
(2023)
Article
Biochemical Research Methods
Weidu Song, Chuanhao Zhang, Huichao Lin, Taiyi Zhang, Haixia Liu, Xiaowen Huang
Summary: The proposed real-time rotary PCR reaction system (RRP) meets the requirements of low cost, low-power consumption, potential for miniaturization, and portability. Experimental and theoretical results demonstrate its feasibility in the rapid quantitative detection of Pseudomonas aeruginosa and have broad application prospects in bacteria detection and food safety.
Article
Biochemical Research Methods
Shaolei Huang, Yiquan An, Bangchao Xi, Xianglian Gong, Zhongfu Chen, Shan Shao, Shengxiang Ge, Jun Zhang, Dongxu Zhang, Ningshao Xia
Summary: Nucleic acid detection is a method that directly identifies the presence of pathogenic microorganisms and has advantages of high sensitivity, commendable specificity, and a short window period. A real-time PCR system based on multiple temperature zones was proposed to solve the time-consuming problem, enabling fast detection speed and high sensitivity under extreme conditions.
Article
Virology
Imene Ben Dhifallah, Kaouther Ayouni, Haifa Jmel, Wafa Kammoun, Kamel Hamzaoui, Amel Sadraoui, Henda Triki
Summary: The study revealed that the IL-12B gene polymorphism is significantly associated with an increased risk of chronic hepatitis B (CHB) in patients, particularly in males under the age of 50.
JOURNAL OF MEDICAL VIROLOGY
(2021)
Article
Multidisciplinary Sciences
Jae Jong Kim, Hyoung-Min Park, A. Young Kyoung, In Kyung Park, Si-Kyu Lim, Byoung Chul Park
Summary: Genetic mutations like SNP are common in genetic disorders and cancers, and PCR methods are widely used for SNP detection. The specifically designed PCR platform STexS can efficiently distinguish small amounts of SNP mixed in normal DNA, aiding in targeting potential SNPs or genetically mutated biomarkers in human clinical samples.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Jingchao Liu, Zhipeng Zhang, Wei Zhang, Lingfeng Meng, Jiawen Wang, Zhengtong Lv, Haoran Xia, Meng Wu, Yaoguang Zhang, Jianye Wang
Summary: This study identified three distinct ferroptosis mediation patterns in bladder cancer. Quantification of ferroptosis mediation patterns in individual samples may help improve the understanding of multiomic characteristics and guide future immunotherapy responses to bladder cancer.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Chemistry, Analytical
Elena Suprun, Svetlana A. Khmeleva, Konstantin Bibik, Konstantin G. Ptitsyn, Leonid K. Kurbatov, Sergey P. Radko
Summary: In this study, modified dUTP-Fl and dUTP-Rh were used as substrates and electroactive labels for electrochemical detection of dsDNA amplification products. The results showed that dUTP-Fl had better compatibility with PCR and RPA, allowing the direct electrochemical detection of full-size amplicons at micromolar concentrations when substituted in the reaction mixture at 50-90% of dTTP.
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS
(2023)
Article
Food Science & Technology
Asmaa Galal-Khallaf, Doaa Hussein, Sobhy El-Sayed Hassab El-Nabi
Summary: This study focused on the development of genetic techniques for the discrimination of six red meat species, showing low levels of species substitution in tested meat samples. The developed techniques have high potentials to be used as reliable and fast tools to avoid meat species substitutions.
JOURNAL OF FOOD SCIENCE
(2021)
Article
Multidisciplinary Sciences
Jiao Cui, Zhou Jiang, Zerui Wang, Jiaqi Shao, Chuanju Dong, Lei Wang, Xuejun Li, Jinxing Du, Shengjie Li, Zhigang Qiao, Meng Zhang
Summary: This study genotyped largemouth bass fry using PCR-RFLP and identified single nucleotide polymorphisms (SNPs) related to food habit domestication traits and growth traits. These SNPs could serve as a molecular basis for breeding new varieties of largemouth bass.
Article
Infectious Diseases
Qunzheng Mu, Xin Zhao, Fengfeng Li, Wenyu Li, Xinxin Zhou, Xinchang Lun, Yiguan Wang, Dongdong Hua, Qiyong Liu, Di Xiao, Fengxia Meng
Summary: This study developed a novel strategy for detecting mutations in the VGSC gene in Ae. albopictus using MPCR-MS minisequencing technology. The results showed that this method can simultaneously detect multiple mutation sites of the VGSC gene in 96 samples of Ae. albopictus, with high sensitivity and high throughput. Compared with conventional sequencing, this method is more economical and efficient, and of great value for insecticide resistance surveillance in high-risk areas of vector-borne diseases.
INFECTIOUS DISEASES OF POVERTY
(2023)
Article
Obstetrics & Gynecology
Chen-Ming Xu, Si-Jia Lu, Song-Chang Chen, Jing-Lan Zhang, Cong-Jian Xu, Yuan Gao, Yi-Ping Shen, Yun-Xia Cao, Ling-Qian Wu, Fan Jin, Ge Lin, Ping Liu, Yi-Min Zhu, Yan-Ting Wu, Dan Zhang, Bill Yee, Vitaly A. Kushnir, Zhi-Hong Yang, Jia-Yin Liu, Zi-Jiang Chen, Alan Thornhill, Angie N. Beltsos, Johan Smitz, John Frattarelli, Alan Handyside, Jie Qiao, He-Feng Huang
Summary: The International Society of Reproductive Genetics (ISRG) formed a workgroup comprised of clinicians, clinical laboratory directors, and scientists to develop guidelines for preimplantation genetic testing (PGT). These guidelines incorporate the latest information and clinical insights to provide optimal PGT practice. Recommendations are given to embryologists, medical geneticists, clinical laboratorians, and other healthcare providers to enhance the well-being of patients seeking assisted reproductive treatment and their offspring.
REPRODUCTIVE AND DEVELOPMENTAL MEDICINE
(2023)
Article
Environmental Sciences
Lihong Pang, Wenhao Yu, Jiale Lv, Yunde Dou, Han Zhao, Shanshan Li, Yuming Guo, Gongbo Chen, Linlin Cui, Jingmei Hu, Yueran Zhao, Qi Zhao, Zi-Jiang Chen
Summary: This study investigates the association between exposure to different air pollutants and ovarian reserve in Shandong Province, China. The findings show a negative association between air pollution and ovarian reserve, particularly during the primary to secondary follicle stage. This association varies among different population sub-groups.
ENVIRONMENTAL RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Qi Jiang, Ruolan Miao, Yuhuan Wang, Wenqi Wang, Dingying Zhao, Yue Niu, Qiaoqiao Ding, Yan Li, Peter C. K. Leung, Daimin Wei, Zi-Jiang Chen
Summary: Polycystic ovary syndrome (PCOS) is a common and heterogeneous endocrine disorder, which is the main cause of ovulatory obstacle associated with abnormal folliculogenesis. Dysfunction of ovarian granulosa cells (GCs) is recognized as a major factor that underlies abnormal follicle maturation. The expression of angiopoietin-like 4 (ANGPTL4) in GCs differs between patients with and without PCOS. In this study, ANGPTL4 was found to be upregulated in patients with PCOS and its overexpression inhibited the proliferation of GCs through the EGFR/JAK1/STAT3-mediated induction of p21, providing a novel epigenetic mechanism for the pathogenesis of PCOS.
Article
Obstetrics & Gynecology
Zheng Liu, Yukun Zheng, Bingyu Wang, Jialin Li, Lang Qin, Xiao Li, Xin Liu, Yuehong Bian, Zijiang Chen, Han Zhao, Shigang Zhao
Summary: This study examined the association between sleep quality before embryo transfer and pregnancy outcomes. The results showed that good sleep quality was associated with higher clinical pregnancy and live birth rates. Treating sleep disorders and providing sleep behavior guidance may improve pregnancy outcomes in IVF-ET.
FERTILITY AND STERILITY
(2023)
Article
Biochemistry & Molecular Biology
Simin Zhao, Chengzi Huang, Yajuan Yang, Weiwei Xu, Yongze Yu, Canxin Wen, Lili Cao, Fei Gao, Yingying Qin, Zi-Jiang Chen, Ting Guo, Shidou Zhao
Summary: When DNA interstrand crosslink lesions occur, a core complex of Fanconi anemia proteins promotes the ubiquitination of FANCD2 and FANCI, which recruit downstream factors to repair the lesion. FANCD2 maintains genome stability through both its ubiquitination-dependent and ubiquitination-independent functions. This study analyzed germ cell development in Fancd2 KO and ubiquitination-deficient mutant mice, and found that the ubiquitination-dependent and ubiquitination-independent functions of FANCD2 were required for different aspects of germ cell development.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2023)
Article
Endocrinology & Metabolism
Jiahui Wang, Wei Zhou, Zhiyi Song, Tianxiang Ni, Qian Zhang, Zi-Jiang Chen, Junhao Yan
Summary: This study aimed to evaluate the association between polycystic ovary syndrome (PCOS) and embryo ploidy. The results showed that the rate of embryonic aneuploidy and embryonic mosaic in PCOS women was comparable to non-PCOS women. Therefore, it is suggested that the miscarriage rate arising from abnormal embryonic chromosomes may be similar between PCOS and non-PCOS women.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Cell Biology
Chunzi Lyu, Tianxiang Ni, Yaqiu Guo, Tingting Zhou, Zi-Jiang Chen, Junhao Yan, Yan Li
Summary: Insufficient extravillous trophoblast (EVT) invasion is associated with recurrent pregnancy loss (RPL). This study found that growth differentiation factor 15 (GDF15) levels were decreased in patients with unexplained recurrent pregnancy loss (URPL), which hindered EVT invasion through the suppression of the JAG1/NOTCH3/HES1 pathway. In a mouse model, administration of recombinant GDF15 reversed the reduced GDF15 levels in the placenta and serum and reduced rates of embryonic resorption. These findings suggest that supplementation with GDF15 could be beneficial for early pregnancy maintenance and reducing the risk of early pregnancy loss.
CELL PROLIFERATION
(2023)
Review
Endocrinology & Metabolism
Yiting Zhang, Xiao Fu, Shuli Gao, Shuzhe Gao, Shanshan Gao, Jinlong Ma, Zi-Jiang Chen
Summary: In the past decade, the use of frozen-thawed embryo transfer treatment has significantly increased. Hormone replacement therapy and the natural cycle are two popular methods for preparing the endometrium. While hormone replacement therapy offers convenience for timing coordination, there are potential risks associated with achieving pregnancy without a corpus luteum. Therefore, there is growing interest in expanding the use of natural cycle FET in ovulatory women to address these concerns and improve outcomes.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2023)
Letter
Biology
Xiaolei Chen, Huangcong Shi, Cheng Li, Wanxia Zhong, Linlin Cui, Wenjun Zhang, Ling Geng, Kuona Hu, Mei Fang, Daimin Wei, Junhao Yan, Yun Sun, Keliang Wu, Han Zhao, Zi-Jiang Chen
SCIENCE CHINA-LIFE SCIENCES
(2023)
Article
Multidisciplinary Sciences
Dan Liang, Aleksei Mikhalchenko, Hong Ma, Nuria Marti Gutierrez, Tailai Chen, Yeonmi Lee, Sang-Wook Park, Rebecca Tippner-Hedges, Amy Koski, Hayley Darby, Ying Li, Crystal Van Dyken, Han Zhao, Keliang Wu, Jingye Zhang, Zhenzhen Hou, Seongjun So, Jongsuk Han, Jumi Park, Chong-Jai Kim, Kai Zong, Jianhui Gong, Yilin Yuan, Ying Gu, Yue Shen, Susan B. Olson, Hui Yang, David Battaglia, Thomas O'Leary, Sacha A. Krieg, David M. Lee, Diana H. Wu, P. Barton Duell, Sanjiv Kaul, Jin-Soo Kim, Stephen B. Heitner, Eunju Kang, Zi-Jiang Chen, Paula Amato, Shoukhrat Mitalipov
Summary: The range of DNA repair in response to double-strand breaks induced in human preimplantation embryos is uncertain due to the complexity of analyzing single- or few-cell samples. Whole genome amplification, which is necessary for sequencing such minute DNA input, can introduce artifacts that restrict genotyping accuracy. This study shows that allelic dropouts occur in over 25% of pre-existing heterozygous loci in control single blastomere samples after whole genome amplification. To overcome these limitations, the authors validate gene editing seen in human embryos by studying embryonic stem cells.
NATURE COMMUNICATIONS
(2023)
Correction
Cell Biology
Xiaoyu Merlin Zhang, Keliang Wu, Yuxuan Zheng, Han Zhao, Junpeng Gao, Zhenzhen Hou, Meiling Zhang, Jiaoyang Liao, Jingye Zhang, Yuan Gao, Yuanyuan Li, Lin Li, Fuchou Tang, Zi-Jiang Chen, Jinsong Li
Letter
Cell Biology
Yuan Gao, Lizhi Yi, Jianhong Zhan, Lijuan Wang, Xuelong Yao, Junhao Yan, Sijing Jian, Lei Gao, Mamadboqirova Farangez, Ming Gao, Yang Zou, Xuan Gao, Keliang Wu, Jiang Liu, Zi-Jiang Chen
Article
Medicine, Research & Experimental
Chengzi Huang, Simin Zhao, Yajuan Yang, Ting Guo, Hanni Ke, Din Mi, Yingying Qin, Zi-Jiang Chen, Shidou Zhao
Summary: Mutations in TP63 gene impair the TID of TAp63 alpha protein, leading to constitutive activation and oocyte apoptosis, resulting in POI. These findings provide insight into the genetic diagnosis of POI and potential therapeutic targets for preserving female fertility.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Obstetrics & Gynecology
Daimin Wei, Yaxin Su, Peter C. K. Leung, Yan Li, Zi-Jiang Chen
Summary: This review summarizes the current knowledge on the pathophysiological roles of BMPs and their underlying molecular mechanisms in regulating human endometrial proliferation and decidualization, aiming to promote the development of innovative strategies for diagnosing, treating, and preventing infertility and adverse pregnancy complications associated with dysregulated human endometrial remodeling.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Obstetrics & Gynecology
Na Chen, Jingyu Li, Yexing Li, Yiyuan Zhang, Jiarong Li, Jie Gao, Jingmei Hu, Linlin Cui, Zi-Jiang Chen
Summary: This study explores the risk factors for monozygotic twinning in offspring conceived by assisted reproductive technology (ART). The factors influencing MZ twinning include parental ages, the transfer of fresh versus frozen embryos, and the grade of blastocysts.
HUMAN REPRODUCTION OPEN
(2023)
Article
Obstetrics & Gynecology
Alice Newman-Sanders, Jackson C. Kirkman-Brown, Meurig T. Gallagher
Summary: This study revealed a significant lack of awareness among young adults in the UK regarding the potential impacts of gym lifestyles and supplementation on male infertility. Men were found to have a concerning lack of concern for their own fertility, with differences in awareness levels between men and women. It was also observed that men were more likely to consider making changes to their behavior if it had a long-term impact on their fertility compared to short-term effects.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Shachar Reuvenny, Michal Youngster, Almog Luz, Rohi Hourvitz, Ettie Maman, Micha Baum, Ariel Hourvitz
Summary: Using a machine-learning model to determine the optimal trigger days can improve the outcomes of antagonist protocol cycles in freeze-all or fresh transfer cycles, for all age groups. Implementing these models can more accurately predict the number of retrieved oocytes, optimizing physicians' decisions, balancing workloads, and creating more standardized yet patient-specific protocols.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Chao Chen, Qi Wen, Feng Deng, Rong Li, Ying Wang, Xiumei Zhen, Jing Hang
Summary: This study investigates the proteomic and phosphoproteomic differences in the endometrium of women with recurrent pregnancy loss (RPL) compared to healthy control women during different phases of the menstrual cycle. The results identify differentially expressed proteins and phosphorylated proteins, and highlight the insulin/cyclic nucleotide signalling pathway and AMPK/mTOR signalling pathway as major contributors to the abnormality of RPL endometrium. The findings provide insights into potential proteins associated with the pathogenesis of RPL and contribute to the identification of potential targets for RPL treatment.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)
Article
Obstetrics & Gynecology
Jaime Guerrero, Juan Carlos Castillo, Jorge Ten, Jose Antonio Ortiz, Belen Lledo, Domingo Orozco, Francisco Quereda, Andrea Bernabeu, Rafael Bernabeu
Summary: The study found no significant differences in clinical outcomes between using oocytes obtained from random-start protocols and those from conventional ovarian stimulation in oocyte donation treatments. Luteal-phase stimulation required longer stimulation and higher FSH consumption.
REPRODUCTIVE BIOMEDICINE ONLINE
(2024)