Article
Microbiology
Pranab Kumar Mahata, Regina Sharmila Dass, Archana Pan, Babylakshmi Muthusamy
Summary: This study extensively analyzed the morphological features of Aspergillus fungi isolated from fennel seeds, along with their classification, genetic characteristics, and SNP analysis. A total of 14 Aspergillus species were identified from 70 fennel samples, with A. niger and A. flavus being the most common species.
FRONTIERS IN MICROBIOLOGY
(2022)
Review
Cell Biology
Farbod Bahreini, Elham Rayzan, Nima Rezaei
Summary: Breast cancer, a multifactorial disease, may have an increased risk due to alterations in microRNA sequences. miR-SNPs are potential biomarkers for early detection of breast cancer.
JOURNAL OF CELLULAR PHYSIOLOGY
(2021)
Article
Cell Biology
Concetta Scimone, Luigi Donato, Simona Alibrandi, Concetta Alafaci, Angela D'Ascola, Sergio Vinci, Rosalia D'Angelo, Antonina Sidoti
Summary: This study reveals the importance of epitranscriptomic modifications in gene expression regulation and suggests the involvement of altered epitranscriptome profile in the development of CCM. These findings provide new insights for further investigation into the pathogenesis of CCM.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Maria Radanova, Mariya Levkova, Galya Mihaylova, Rostislav Manev, Margarita Maneva, Rossen Hadgiev, Nikolay Conev, Ivan Donev
Summary: There is a growing interest in studying single nucleotide polymorphisms (SNPs) in microRNA (miRNA) genes, as they may be associated with susceptibility, prognosis, and treatment response in colorectal cancer (CRC). These miRNA-SNPs could serve as non-invasive biomarkers for early detection of CRC. However, contradictory findings have been reported when different research groups investigated the same SNP in a gene for a specific miRNA, highlighting the need for more case-control studies involving participants from different ethnic backgrounds. According to our review, three miRNA-SNPs - miR-146a rs2910164, miR-27a rs895819, and miR-608 rs4919510 - appear to be promising prognostic, diagnostic, and predictive biomarkers for CRC.
Article
Psychiatry
Kumaraswamy Naidu Chitrala, Prakash Nagarkatti, Mitzi Nagarkatti
Summary: This study analyzed the impact of deleterious SNPs in the COMT gene associated with PTSD using computational approaches and molecular dynamic simulations. The SNP rs4680 (V158M) in COMT was found to have a deleterious effect on PTSD. Results from molecular dynamics simulations showed significant structural fluctuations between wild-type and mutant forms of the COMT protein.
JOURNAL OF PSYCHIATRIC RESEARCH
(2021)
Review
Endocrinology & Metabolism
Richard L. Cate
Summary: This passage discusses the research on a new hormone related to male sexual development seventy years ago, AMH and AMHR2, and their roles in the regression of the Mullerian duct.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Engineering, Environmental
Seyed Samad Hosseini, Asiyeh Jebelli, Somayeh Vandghanooni, Ali Jahanban-Esfahlan, Behzad Baradaran, Mohammad Amini, Negar Bidar, Miguel de la Guardia, Ahad Mokhtarzadeh, Morteza Eskandani
Summary: Single nucleotide polymorphisms (SNPs) are the main cause of individual variability and are associated with various diseases. The healthcare industry requires more advanced technologies to detect SNPs. This review focuses on novel SNP biosensors based on electrochemical, optical, and piezoelectric analysis, and explores future trends in sensing.
CHEMICAL ENGINEERING JOURNAL
(2022)
Article
Medicine, General & Internal
Maha Daghestani, Nashwa Othman, Mohammed A. Omair, Fahidah Alenzi, Maha A. Omair, Eman Alqurtas, Shireen Amin, Arjumand Warsy
Summary: This study conducted an investigation on the Saudi population and found that 6 single nucleotide polymorphisms (SNPs) were significantly associated with rheumatoid arthritis (RA), with 4 of them having a protective effect. Two SNPs showed significantly higher heterozygote frequencies in the control group compared to the patients. This indicates considerable heterogeneity in the genetics of RA in different populations.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Chemistry, Analytical
Salvatore Petralia, Antonella Vigilanza, Emanuele Sciuto, Michele Maffia, Antonella Romanini, Sabrina Conoci
Summary: The study investigated single nucleotide polymorphisms in the MC1R gene using a miniaturized silicon-based microarray-chip, showing good sensitivity and high confidence level, paving the way for future development of portable genetic assays.
SENSORS AND ACTUATORS B-CHEMICAL
(2021)
Article
Medicine, Research & Experimental
Atsushi Yamaguchi, Yuto Mukai, Tomoya Sakuma, Yudai Suganuma, Ayako Furugen, Katsuya Narumi, Masaki Kobayashi
Summary: This study examined the influence of hMCT9 gene variants L93M and T258K on its transport characteristics. The results showed that L93M slightly decreased the transport activity of creatine, while T258K did not affect it. Interestingly, T258K abolished Na+ sensitivity and altered the substrate affinity.
Article
Medical Laboratory Technology
Yuqi Wang, Ling Li, Ping Li
Summary: The association between gestational diabetes mellitus (GDM) and single nucleotide polymorphisms (SNPs) has been widely studied. SNPs can provide insights into the pathogenesis of GDM, help predict the risk of GDM, and guide the management of GDM patients. This review focuses on recent studies investigating the association between SNPs and GDM, identifying several SNPs that have been associated with GDM. However, further research is needed to explore the role of SNPs in the prediction, diagnosis, treatment, and prognosis of GDM in diverse ethnic populations.
CLINICA CHIMICA ACTA
(2023)
Article
Biochemistry & Molecular Biology
Guralamatta Siddappa Ravi Kumara, Young Jun Seo
Summary: We developed a direct arylated oligonucleotide based molecular rotor for distinguishing perfect matched DNA sequences from one base mismatched sequences. This rotor showed high sensitivity and could be used to detect local dynamics of nucleic acids, providing a simple and cost-effective method for preparing SNP probes.
BIOORGANIC & MEDICINAL CHEMISTRY
(2022)
Article
Genetics & Heredity
Jie Wei, Huan Zhang, Xiaoya Ma, Yujie Li, Wenqian Zhou, Jinping Guo, Tianbo Jin, Mingjun Hu
Summary: This study investigated the association between single nucleotide polymorphisms (SNPs) of the OR51E1 gene and glioma susceptibility in the Chinese Han population. The results showed that polymorphisms rs10768148, rs7102992, and rs10500608 were associated with glioma risk in the overall sample. Stratified analyses based on gender and age revealed specific SNP-glioma associations. Additionally, synergistic and redundant relationships between certain SNPs were identified. Overall, this study provides a basis for assessing glioma risk-associated variants in the Chinese Han population.
Article
Medicine, General & Internal
Praval Khanal, Alun G. Williams, Lingxiao He, Georgina K. Stebbings, Gladys L. Onambele-Pearson, Martine Thomis, Hans Degens, Christopher Morse
Summary: The study found associations between sarcopenia and skeletal muscle structure and function in obese women, and identified three gene variants potentially linked to sarcopenia in obese elderly individuals.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Varshini D. Venkata, M. Fairuz B. Jamaluddin, Jyoti Goad, Hannah R. Drury, Melissa A. Tadros, Rebecca Lim, Ajay Karakoti, Rachel O'Sullivan, Yvette Ius, Kenneth Jaaback, Pravin Nahar, Pradeep S. Tanwar
Summary: This study developed organoids from human fetal reproductive organs and compared them with adult organoids. The results showed that fetal organoids were different from adult organoids in terms of markers expression, appearance, histology, and proteomics. Transplantation of fetal organoids onto adult tissue scaffolds led to regeneration of adult epithelia. Suppression of Wnt signaling inhibited the regenerative ability of fetal organoids and caused anatomical defects in the mouse reproductive tract. Therefore, fetal organoids provide an important platform for studying human female reproductive tract development and diseases.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
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)
