Article
Obstetrics & Gynecology
Ying Chan, Weiming Xu, Yan Feng, Yan Zhang, Suyun Li, Zibiao Geng, Zhijiao Liu, Qingfen Zhao, Jinman Zhang, Baosheng Zhu
Summary: This study investigated the association of TP53 rs1042522 G > C, MDM2 rs2279744 309 T > G, and miR-34b/c rs4938723 T > C polymorphisms with aneuploidy pregnancy susceptibility. The results suggest that these polymorphisms, combined with maternal age, may be related to aneuploidy pregnancy. These findings provide insights into the genetic etiology of aneuploidy pregnancy.
BMC PREGNANCY AND CHILDBIRTH
(2023)
Article
Toxicology
Yemei Song, Huaixin Xing, Liqing Zhou, Nasha Zhang, Ming Yang
Summary: The study identified that a specific SNP of lncRNA H19 could impact the survival rate of HCC patients receiving TACE treatment, potentially through regulating H19 expression to affect treatment response. Additionally, knocking down lncRNA H19 can enhance the antiviability efficiency of chemotherapy drugs used in TACE on HCC cells.
ARCHIVES OF TOXICOLOGY
(2021)
Article
Medicine, Research & Experimental
Yichao Zhao, Chaoqian Zhu, Qing Chang, Jie Yang, Yuanguang Liu, Peng Peng, Chunmei Liu, Ran Cheng, Xiaonan Chen, Yijie Wu, Ling Cheng, Liang Hu, Xiaotang Wu, Jun Yin
Summary: This study investigated the relationship between TP53 rs28934571 polymorphism and HCC risk in Guangxi, China, suggesting that allele A on TP53 rs28934571 may be a risk factor for HCC and mutation from C to A could increase the risk of poor prognosis of HCC. It concluded that TP53 rs28934571 may serve as a diagnostic indicator for judging the prognosis of HCC.
BIOMARKERS IN MEDICINE
(2021)
Article
Multidisciplinary Sciences
Pasquale Piccolo, Rosa Ferriero, Anna Barbato, Sergio Attanasio, Marcello Monti, Claudia Perna, Florie Borel, Patrizia Annunziata, Annamaria Carissimo, Rossella De Cegli, Luca Quagliata, Luigi M. Terracciano, Chantal Housset, Jeffrey H. Teckman, Christian Mueller, Nicola Brunetti-Pierri
Summary: AAT deficiency is caused by pathogenic variants in the SERPINA1 gene, with the Z allele encoding for Z alpha 1-antitrypsin leading to hepatotoxic polymers. The up-regulation of miR-34b/c in PiZ mouse livers is correlated to intrahepatic ATZ, and its expression is dependent on JNK phosphorylation on Ser574. Deletion of miR-34b/c in PiZ mice results in early liver fibrosis and increased signaling of platelet-derived growth factor.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Taisuke Imamura, Yukiyasu Okamura, Keiichi Ohshima, Katsuhiko Uesaka, Teiichi Sugiura, Takaaki Ito, Yusuke Yamamoto, Ryo Ashida, Katsuhisa Ohgi, Shimpei Otsuka, Sumiko Ohnami, Takeshi Nagashima, Keiichi Hatakeyama, Yuko Kakuda, Takashi Sugino, Kenichi Urakami, Yasuto Akiyama, Ken Yamaguchi
Summary: This study compared the genomic characteristics of hepatocellular carcinoma (HCC) in patients with hepatitis C virus infection who achieved sustained virological response (SVR) or not after surgery using gene expression profiling and whole-exome sequencing. The study found significant differences in mutation rates of several driver genes between HCCs of SVR patients and non-SVR patients, as well as between HCCs of SVR patients treated with direct-acting antivirals (DAA) and interferon (IFN).
Article
Biochemistry & Molecular Biology
Ikjun Lee, Shuyu Piao, Seonhee Kim, Harsha Nagar, Su-jeong Choi, Minsoo Kim, Giang-Huong Vu, Byeong-Hwa Jeon, Cuk-Seong Kim
Summary: Endothelial senescence impairs vascular function and is a major factor in age-related vasculature diseases. IDH2 is involved in the production of alpha-ketoglutarate and preservation of mitochondrial function. However, the mechanism and regulation of IDH2 in endothelial senescence have not been fully understood.
Article
Environmental Sciences
Liguo Zhang, Ping Zhang, Tonggang Liu, Dongmei Li, Xianxian Liu
Summary: circ_0006404 is overexpressed in hepatocellular carcinoma (HCC) and promotes HCC cell growth, cycle, and migration. It functions by regulating the expression of miR-624. These findings suggest that circ_0006404 may serve as a new biomarker for HCC.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Genetics & Heredity
Yang Yang, Yajuan Qu, Zhaopeng Li, Zhiyong Tan, Youming Lei, Song Bai
Summary: This study provides a detailed analysis of TP53-mutated hepatocellular carcinoma (HCC), offering new insights for individualized therapy and accurate prognosis prediction.
FRONTIERS IN GENETICS
(2022)
Article
Andrology
M. Kemal Ozbilgin, Serdag Demiroren, Meltem Ucoz, Mustafa Oztatlici
Summary: Cyclophosphamide-induced testicular toxicity is associated with alterations in the expression levels of GDNF, occludin, and TGF-beta 3. The decrease in miR-34b and miR-34c expression in tissue samples may serve as an important marker for detecting testicular damage.
Article
Oncology
Rania M. Bondok, Lamiaa A. Barakat, Alyaa R. Elsergany, Nancy Mahsoub, Maivel H. Ghattas
Summary: The overexpression of IFITM3 in hepatocellular carcinoma Egyptian patients was investigated in this study. The results showed that IFITM3 rs 12252-CC was significantly elevated in HCC patients compared to the control group with HCV infection.
Article
Biochemistry & Molecular Biology
Minyong Chen, Huaxiang Wang, Songchang Shi, Hui Zhang, Shaohua Xu, Yi Jiang
Summary: This study found that the expression of miR-6071 was decreased in liver cancer stem cells (LCSCs). Overexpression of miR-6071 inhibited self-renewal and tumorigenesis of LCSCs, as well as proliferation and migration of hepatocellular carcinoma (HCC) cells. The study also revealed that miR-6071 targeted the 3’UTR of PTPN11 mRNA and that upregulation of miR-6071 sensitized HCC cells to lenvatinib treatment. Clinical analysis showed that HCC patients with high miR-6071 expression had better survival outcomes with postoperative lenvatinib treatment.
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
(2022)
Article
Environmental Sciences
Hua Li, Bingli Liu, Xin Xu, Shunle Li, Di Zhang, Qingfeng Liu
Summary: This study revealed the regulatory role of circ_SNX27 in hepatocellular carcinoma (HCC) development through the miR-637/FGFR1 axis.
ENVIRONMENTAL TOXICOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Yaxuan Wang, Zhan Yang, Junfei Gu, Yanping Zhang, Xin Wang, Zhihai Teng, Dandan Wang, Lei Gao, Wei Li, Shuyuan Yeh, Zhenwei Han
Summary: This study found that ERβ may increase the population of CSCs in ccRCC by altering the ERβ/circPHACTR4/miR-34b-5p/c-Myc signaling pathway. Mechanistically, ERβ suppresses the expression of circPHACTR4 by directly binding to EREs on the promoter region of the PHACTR4 gene, leading to decreased miR-34b-5p expression. Decreased miR-34b-5p then increases c-Myc mRNA translation by targeting its 3' UTR.
Article
Gastroenterology & Hepatology
Charles Shing Kam, Daniel Wai-Hung Ho, Vanessa Sheung-In Ming, Lu Tian, Karen Man-Fong Sze, Vanilla Xin Zhang, Yu-Man Tsui, Abdullah Husain, Joyce Man-Fong Lee, Carmen Chak-Lui Wong, Albert Chi-Yan Chan, Tan-To Cheung, Lo-Kong Chan, Irene Oi-Lin Ng
Summary: The up-regulation of PFKFB4 expression is associated with more aggressive tumor behavior in hepatocellular carcinoma (HCC) and plays a critical role in HCC development, with therapeutic implications.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Oncology
Jia-Kai Jiang, Han-Shen Chen, Wei-Feng Tang, Yu Chen, Jing Lin
Summary: This meta-analysis indicates that the rs3746444 locus in the miR-499 gene is associated with the occurrence of hepatocellular carcinoma (HCC), especially in Asian individuals.
WORLD JOURNAL OF GASTROINTESTINAL ONCOLOGY
(2023)
Article
Biology
Chang Soo Ryu, Seung Hun Oh, Kee Ook Lee, Han Sung Park, Hui Jeong An, Jeong Yong Lee, Eun Ju Ko, Hyeon Woo Park, Ok Joon Kim, Nam Keun Kim
Article
Biochemistry & Molecular Biology
Young Seok Park, Hyeon Woo Park, Han Sung Park, Chang Soo Ryu, Jeong Yong Lee, Eun Ju Ko, Jung Hoon Sung, Jinkwon Kim, Ok Joon Kim, Nam Keun Kim
Summary: The RNF213 4950G>A genotype was more frequently observed in cerebral stroke patients and was particularly associated with SVD. The combination of RNF213 4448/4950 genotypes was higher in SVD patients. However, the allele combination of RNF213 4863/4950 was associated with an increased risk of SVD and LAD.
Article
Health Care Sciences & Services
Jung Oh Kim, Han Sung Park, Eun Ju Ko, Jung Hoon Sung, Jinkwon Kim, Seung Hun Oh, Ok Joon Kim, Nam Keun Kim
Summary: TS 1100T>C and 1170A>G polymorphisms are strongly associated with the risk of ischemic stroke and SBI in Koreans, with 1100T>C polymorphism also showing synergistic effects with low folic acid levels. These findings suggest that TS 1100T>C and 1170A>G polymorphisms may serve as potential biomarkers for ischemic stroke and SBI.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Jeong Yong Lee, Eun Hee Ahn, Hyeon Woo Park, Ji Hyang Kim, Young Ran Kim, Woo Sik Lee, Nam Keun Kim
Summary: Recurrent implantation failure (RIF) may be related to embryo characteristics, immune factors, coagulation factors, and genetics. This study found significant differences in HOTAIR SNVs between RIF patients and healthy controls, which are associated with blood biochemical indicators.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Health Care Sciences & Services
In-Jai Kim, Jeong-Yong Lee, Hyeon-Woo Park, Han-Sung Park, Eun-Ju Ko, Jung-Hoon Sung, Nam-Keun Kim
Summary: The study suggests that HOTAIR gene polymorphisms may serve as novel biomarkers for diagnosing coronary artery disease (CAD) and are closely associated with CAD susceptibility. Variations in genetic polymorphisms, genotype combinations, and haplotype analysis of HOTAIR are linked to disease occurrence and clinical factors contributing to disease susceptibility.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Sung-Hwan Cho, Ji-Hyang Kim, Hui-Jeong An, Young-Ran Kim, Eun-Hee Ahn, Jung-Ryeol Lee, Jung-Oh Kim, Jung-Jae Ko, Nam-Keun Kim
Summary: The study identified an association between polymorphisms in miR-604A>G and miR-938G>A and the risk of idiopathic recurrent pregnancy loss (RPL), suggesting potential effects on RPL in Korean women. The results indicate that these miRNA polymorphisms may play a role in RPL susceptibility.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Health Care Sciences & Services
Young-Joo Jeon, Sung-Hwan Cho, Eo-Jin Kim, Chang-Soo Ryu, Han-Sung Park, Jong-Woo Kim, Jeong-Yong Lee, Hui-Jeong An, Nam-Keun Kim
Summary: This study found an association between 3'-UTR variants in TS genes and colorectal cancer, suggesting they could potentially serve as biomarkers for CRC prognosis and prevention.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Health Care Sciences & Services
Hee Young Cho, Han Sung Park, Eun Hee Ahn, Eun Ju Ko, Hyeon Woo Park, Young Ran Kim, Ji Hyang Kim, Woo Sik Lee, Nam Keun Kim
Summary: The study revealed that PAI-1 rs1050955 and REN 10795 rs5707 alleles may decrease the risk of RPL, while the tPA rs4646972 genotype may increase the risk of RPL.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Genetics & Heredity
Ji-Hyang Kim, Han-Sung Park, Jeong-Yong Lee, Eun-Ju Ko, Young-Ran Kim, Hee-Young Cho, Woo-Sik Lee, Eun-Hee Ahn, Nam-Keun Kim
Summary: The study found an association between MUC4 gene polymorphisms and RPL, particularly the rs882605 C>A and rs1104760 A>G polymorphisms. These findings suggest that MUC4 polymorphisms may serve as potential biomarkers for RPL.
Article
Health Care Sciences & Services
Eun-Ju Ko, In-Jai Kim, Jeong-Yong Lee, Hyeon-Woo Park, Han-Sung Park, Sang-Hoon Kim, Jae-Youn Moon, Jung-Hoon Sung, Nam-Keun Kim
Summary: This study investigated the relationship between VEGF polymorphisms and susceptibility to coronary artery disease (CAD) in Koreans. The results showed significant associations between certain VEGF allele combinations and CAD prevalence. The VEGF +1725AA genotype combined with several clinical factors was found to increase the risk of CAD.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Min-Jung Kwon, Ji-Hyang Kim, Jeong-Yong Lee, Eun-Ju Ko, Hyeon-Woo Park, Ji-Eun Shin, Eun-Hee Ahn, Nam-Keun Kim
Summary: The study found that the FN3KRP rs1046875 G>A gene polymorphism plays a significant role in the prevalence of recurrent pregnancy loss in Korean women. The results suggest a significant association between FN3KRP rs1046875 G>A polymorphism and RPL risk in Korean women, indicating the need for further research.
Article
Biochemistry & Molecular Biology
Hui-Jeong An, Sung-Hwan Cho, Han-Sung Park, Ji-Hyang Kim, Young-Ran Kim, Woo-Sik Lee, Jung-Ryeol Lee, Seong-Soo Joo, Eun-Hee Ahn, Nam-Keun Kim
Summary: This study investigated the genetic association between recurrent pregnancy loss (RPL) and microRNA (miRNA) polymorphisms in miR-10aA>T, miR-30cA>G, miR-181aT>C, and miR-499bA>G in Korean women. The study identified specific genotypes of miR-10a and miR-499 that are associated with increased RPL risk.
Article
Genetics & Heredity
Hyeon Woo Park, Young Ran Kim, Jeong Yong Lee, Eun Ju Ko, Min Jung Kwon, Ji Hyang Kim, Nam Keun Kim
Summary: This study analyzed the impact of HOTAIR polymorphisms on RPL in Korean women and found that rs4759314A>G and rs920778T>C were significantly associated with increased risk of RPL.
Article
Biochemistry & Molecular Biology
Gun Ho Choi, Sung Hwan Cho, Hui Jeong An, Han Sung Park, Jeong Yong Lee, Eun Ju Ko, Seung Hun Oh, Ok Joon Kim, Nam Keun Kim
Summary: Stroke is the second leading cause of death globally, with most cases being ischemic. Increased levels of plasminogen activator inhibitor-1 (PAI-1) have been linked to higher risk of stroke. A case-control study in South Korea identified specific variations in the PAI-1 gene that are significantly associated with higher prevalence of ischemic stroke. These genetic variations could potentially serve as clinical biomarkers for stroke and improve patient prognosis and management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Eun-Ju Ko, Ji-Eun Shin, Jung-Yong Lee, Chang-Soo Ryu, Ji-Young Hwang, Young-Ran Kim, Eun-Hee Ahn, Ji-Hyang Kim, Nam-Keun Kim
Summary: Recurrent implantation failure (RIF) refers to multiple unsuccessful in vitro fertilization embryo transfers in the same individual. Genetic factors, including SNPs in FSHR, INHA, ESR1, and BMP15, have been found to be associated with RIF development in Korean women.
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
