Article
Oncology
Qiongguang Huang, Yingchun Liu, Moqin Qiu, Qiuling Lin, Xueyan Wei, Zihan Zhou, Xiumei Liang, Runwei Li, Weiyi Chen, Xianguo Zhou, Hongping Yu
Summary: The study found that the A allele of MAP3K14 rs2074292 may be a potential predictor of HBV-HCC survival, likely regulating MAP3K14 mRNA expression.
FRONTIERS IN ONCOLOGY
(2022)
Review
Oncology
Wenmin Yang, Te Zhang, Xuming Song, Gaochao Dong, Lin Xu, Feng Jiang
Summary: This review summarizes the progress in identifying cancer risk-associated loci and understanding the molecular and biological mechanisms by which genetic variation affects gene regulation. Cancer ranks as the second leading cause of death worldwide, and it has a high heritability. By studying the positions and modes of action of SNPs in gene regulation, the mechanisms underlying how SNPs affect tumorigenesis and the development of cancer can be elucidated.
Article
Environmental Sciences
Xinghai Zhu, Junhao Zhang, Xiujiang Hou, Pingping Liu, Jia Lv, Qiang Xing, Xiaoting Huang, Jingjie Hu, Zhenmin Bao
Summary: GWAS analysis revealed the genetic basis of shell color in bay scallops, identifying key SNPs mainly located on chromosome 7 and three candidate genes involved in shell pigmentation regulation. Gene expression analysis showed significant differences in the expression levels of candidate genes in mantle tissues of individuals with different shell colors, providing insights into the mechanism underlying shell color phenotype differences.
FRONTIERS IN MARINE SCIENCE
(2021)
Article
Immunology
Tingting Zhu, Yuandi Huang, Danfeng Qian, Yuming Sheng, Chaowen Zhang, Shirui Chen, Hui Zhang, Hui Wang, Xuejun Zhang, Junlin Liu, Changhai Ding, Lu Liu
Summary: The study identified a polymorphism in the ZFP90 gene associated with SLE in a GWAS, suggesting a potential role in the pathogenesis of SLE and its contribution to therapeutic drug discovery.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Kimberly A. Luddy, Jamie K. Teer, Audrey Freischel, Cliona O'Farrelly, Robert Gatenby
Summary: In an evolving population, fitness determines proliferation and the dominant population usually has the most well adapted phenotype. Negative selection provides crucial information about genes involved in essential cellular processes. Similar to immunoediting, evolutionary triage eliminates mutations in tumor cells that increase susceptibility to immune response while mutations that shield them from immune attack increase proliferation. This new approach can be used to investigate evolutionary triage in immune-related genes and potentially lead to new treatment options.
FRONTIERS IN GENETICS
(2022)
Article
Agriculture, Dairy & Animal Science
S. Bovo, G. Schiavo, V. J. Utzeri, A. Ribani, M. Schiavitto, L. Buttazzoni, R. Negrini, L. Fontanesi
Summary: In the European rabbit, the number of teats indirectly impacts reproduction efficiency, and a study on Italian White rabbits identified candidate genes associated with teat numbers, potentially enhancing maternal performance and breeding programs.
Article
Gastroenterology & Hepatology
Tomas C. Rodriguez, Suet-Yan Kwan, Jordan L. Smith, Sina Dadafarin, Chern-Horng Wu, Erik J. Sontheimer, Wen Xue
Summary: Our study utilized a multiomics approach to investigate the regulatory mechanisms underlying hepatoblastoma (HB). By integrating transcriptome and chromatin profiling data, we identified dynamic activity at candidate cis-regulatory elements (cCREs). We found that a subset of cCREs showed tumor-modified accessibility in HB, and further mapping revealed YAP1-bound enhancers that regulate gene expression. In addition, we validated the YAP1-dependent expression of JDP2 in human HB cell lines and discovered a putative YAP1 target enhancer. Our findings provide insights into YAP1-driven tumorigenesis in HB and highlight JDP2 as a potential therapeutic target.
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
Biotechnology & Applied Microbiology
Yuanna Wu, Ming Liu, Ruoxin Zhang, Menghong Sun, Qingyi Wei, Kuaile Zhao, Mengyun Wang
Summary: This study found that two potential functional SNPs on the HDAC9 gene are significantly associated with survival rate in patients with esophageal squamous cell carcinoma (ESCC). Furthermore, these SNPs are also related to the expression levels of the HDAC9 gene. These findings suggest that these SNPs may serve as biomarkers for predicting survival in ESCC patients.
JOURNAL OF GENE MEDICINE
(2022)
Article
Multidisciplinary Sciences
Huili Xue, Aili Yu, Na Lin, Xuemei Chen, Min Lin, Yan Wang, Hailong Huang, Liangpu Xu
Summary: The etiopathogenesis of fetal ventriculomegaly is not well understood. This study investigated the correlations between fetal ventriculomegaly and chromosome abnormalities, finding higher detection rates of clinically significant CNVs in non-isolated ventriculomegaly compared to isolated cases. Additionally, SNP arrays were found to effectively identify CNVs and increase the abnormal chromosomal detection rate, particularly in cases of ventriculomegaly accompanied by CNS anomalies.
SCIENTIFIC REPORTS
(2021)
Article
Medicine, General & Internal
Hua Huang, Jiangyan He, Dongyang Deng, Rong Chen, Yiyuan Zhou
Summary: This retrospective study aims to identify the single nucleotide polymorphisms (SNPs) of 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T, A1298C), methionine synthase reductase (MTRR) (A66G) and explore their correlation with folate metabolism risk in pregnant women. The study analyzed the demographic data of 8735 pregnant women and tested their blood samples. The results showed that certain genotypes of MTHFR C677T and MTRR A66G were significantly related to the risk levels of folate metabolism.
Article
Biology
Jessica Binder, Oleg Ursu, Cristian Bologa, Shanya Jiang, Nicole Maphis, Somayeh Dadras, Devon Chisholm, Jason Weick, Orrin Myers, Praveen Kumar, Jeremy J. Yang, Kiran Bhaskar, Tudor Oprea
Summary: With increased research funding for Alzheimer's disease (AD) and related disorders across the globe, machine learning methods have been employed to understand the ever-growing data, enhancing early diagnosis and uncovering potential drug targets. The study identified potential AD risk genes and validated the top 20 candidates through experimental screening.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Justyna Basak, Danuta Piotrzkowska, Ireneusz Majsterek, Ewa Kucharska
Summary: Multiple sclerosis (MS) is an autoimmune disorder of the central nervous system with no cure and unclear etiology. This study aimed to identify SNPs associated with an increased risk of developing MS. The findings suggest that the GG AGO1 rs636832 and AA GEMIN4 rs7813 genotypes are associated with an increased risk of MS.
Article
Biochemistry & Molecular Biology
Diamanto Skopelitou, Beiping Miao, Aayushi Srivastava, Abhishek Kumar, Magdalena Kuswick, Dagmara Dymerska, Nagarajan Paramasivam, Matthias Schlesner, Jan Lubinski, Kari Hemminki, Asta Forsti, Obul Reddy Bandapalli
Summary: Germline mutations in predisposition genes only contribute to 20% of familial colorectal cancers, with rare potential cancer-predisposing variants remaining poorly explored. A study identified two novel variants in a Polish family, one showing no significant impact on cell proliferation and the other enhancing promoter activity. The findings shed light on unrecognized genetic causes of familial CRC and highlight the importance of 5' UTR variants affecting transcriptional regulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Yaping Sun, Jun Wang, Yecai Meng
Summary: The study found significant associations between the single nucleotide polymorphisms of the SIRT1 gene at three loci and the risk of diabetic nephropathy. Plasma SIRT1 levels were negatively correlated with the levels of hsa-miR-126-5p, hsa-miR-2115-3p, and hsa-miR-200a-3p.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2021)
Correction
Multidisciplinary Sciences
Matthew J. Olnes, Yuri Kotliarov, Angelique Biancotto, Foo Cheung, Jinguo Chen, Rongye Shi, Huizhi Zhou, Ena Wang, John S. Tsang, Robert Nussenblatt, Francesco M. Marincola
SCIENTIFIC REPORTS
(2016)
Article
Medicine, Research & Experimental
Meghali Goswami, Gabrielle Prince, Angelique Biancotto, Susan Moir, Lela Kardava, Brian H. Santich, Foo Cheung, Yuri Kotliarov, Jinguo Chen, Rongye Shi, Huizhi Zhou, Hana Golding, Jody Manischewitz, Lisa King, Lauren M. Kunz, Kimberly Noonan, Ivan M. Borrello, B. Douglas Smith, Christopher S. Hourigan
JOURNAL OF TRANSLATIONAL MEDICINE
(2017)
Article
Medicine, Research & Experimental
Jinguo Chen, Foo Cheung, Rongye Shi, Huizhi Zhou, Wenrui Lu
JOURNAL OF TRANSLATIONAL MEDICINE
(2018)
Article
Immunology
Souheil El-Chemaly, Foo Cheung, Yuri Kotliarov, Kevin J. O'Brien, William A. Gahl, Jinguo Chen, Shira Y. Perl, Angelique Biancotto, Bernadette R. Gochuico
FRONTIERS IN IMMUNOLOGY
(2018)
Correction
Biochemistry & Molecular Biology
John S. Tsang, Pamela L. Schwartzberg, Yuri Kotliarov, Angelique Biancotto, Zhi Xie, Ronald N. Germain, Ena Wang, Matthew J. Olnes, Manikandan Narayanan, Hana Golding, Susan Moir, Howard B. Dickler, Shira Perl, Foo Cheung
Article
Biotechnology & Applied Microbiology
Sawa Ito, Catherine M. Bollard, Mattias Carlsten, Jan Joseph Melenhorst, Angelique Biancotto, Ena Wang, Jinguo Chen, Yuri Kotliarov, Foo Cheung, Zhi Xie, Francesco Marincola, Kazushi Tanimoto, Minoo Battiwalla, Matthew J. Olnes, Shira Perl, Paula Schum, Thomas E. Hughes, Keyvan Keyvanfar, Nancy Hensel, Pawel Muranski, Neal S. Young, A. John Barrett
Article
Multidisciplinary Sciences
Ido Nevo, Kevin Woolard, Maggie Cam, Aiguo Li, Joshua D. Webster, Yuri Kotliarov, Hong Sug Kim, Susie Ahn, Jennifer Walling, Svetlana Kotliarova, Galina Belova, Hua Song, Rolanda Bailey, Wei Zhang, Howard A. Fine
Article
Multidisciplinary Sciences
Matthew J. Olnes, Yuri Kotliarov, Angelique Biancotto, Foo Cheung, Jinguo Chen, Rongye Shi, Huizhi Zhou, Ena Wang, John S. Tsang, Robert Nussenblatt
SCIENTIFIC REPORTS
(2016)
Article
Multidisciplinary Sciences
Julian Candia, Foo Cheung, Yuri Kotliarov, Giovanna Fantoni, Brian Sellers, Trevor Griesman, Jinghe Huang, Sarah Stuccio, Adriana Zingone, Brid M. Ryan, John S. Tsang, Angelique Biancotto
SCIENTIFIC REPORTS
(2017)
Article
Immunology
Surender Khurana, Elizabeth M. Coyle, Jody Manischewitz, Lisa R. King, Jin Gao, Ronald N. Germain, Pamela L. Schwartzberg, John S. Tsang, Hana Golding
Article
Biochemistry & Molecular Biology
Yuri Kotliarov, Rachel Sparks, Andrew J. Martins, Matthew P. Mule, Yong Lu, Meghali Goswami, Lela Kardava, Romain Banchereau, Virginia Pascual, Angelique Biancotto, Jinguo Chen, Pamela L. Schwartzberg, Neha Bansal, Candace C. Liu, Foo Cheung, Susan Moir, John S. Tsang
Article
Multidisciplinary Sciences
Sarfaraz A. Hasni, Sarthak Gupta, Michael Davis, Elaine Poncio, Yenealem Temesgen-Oyelakin, Philip M. Carlucci, Xinghao Wang, Mohammad Naqi, Martin P. Playford, Rishi R. Goel, Xiaobai Li, Ann J. Biehl, Isabel Ochoa-Navas, Zerai Manna, Yinghui Shi, Donald Thomas, Jinguo Chen, Angelique Biancotto, Richard Apps, Foo Cheung, Yuri Kotliarov, Ashley L. Babyak, Huizhi Zhou, Rongye Shi, Katie Stagliano, Wanxia Li Tsai, Laura Vian, Nathalia Gazaniga, Valentina Giudice, Shajia Lu, Stephen R. Brooks, Meggan MacKay, Peter Gregersen, Nehal N. Mehta, Alan T. Remaley, Betty Diamond, John J. O'Shea, Massimo Gadina, Mariana J. Kaplan
Summary: Increased risk of premature cardiovascular disease in systemic lupus erythematosus (SLE) is mitigated by the Janus kinase inhibitor tofacitinib, demonstrated in a Phase 1 double-blind randomized trial in SLE patients where tofacitinib showed safety and improvements in cardiometabolic and immunologic parameters.
NATURE COMMUNICATIONS
(2021)
Article
Medicine, Research & Experimental
Richard Apps, Yuri Kotliarov, Foo Cheung, Kyu Lee Han, Jinguo Chen, Angelique Biancotto, Ashley Babyak, Huizhi Zhou, Rongye Shi, Lisa Barnhart, Sharon M. Osgood, Yasmine Belkaid, Steven M. Holland, John S. Tsang, Christa S. Zerbe
Article
Medicine, Research & Experimental
Peer W. F. Karmaus, Min Shi, Shira Perl, Angelique Biancotto, Julian Candia, Foo Cheung, Yuri Kotliarov, Neal Young, Michael B. Fessler
Article
Immunology
Stefan Avey, Foo Cheung, Damian Fermin, Jacob Frelinger, Renaud Gaujoux, Raphael Gottardo, Purvesh Khatri, Steven H. Kleinstein, Yuri Kotliarov, Hailong Meng, Renan Sauteraud, Shai S. Shen-Orr, John S. Tsang, Francesco Vallania, Esperanza Anguiano, Jeanine Baisch, Nicole Baldwin, Robert B. Belshe, Tamara P. Blevins, Damien Chaussabel, Mark M. Davis, Erol Fikrig, Diane E. Grill, David A. Hafler, Evan Henrich, Samit R. Joshi, Susan M. Kaech, Rick B. Kennedy, Subhasis Mohanty, Ruth R. Montgomery, Ann L. Oberg, Gerlinde Obermoser, Inna G. Ovsyannikova, A. Karolina Palucka, Virginia Pascual, Greg A. Poland, Bali Pulendran, Ellis L. Reinherz, Albert C. Shaw, Barbara Siconolfi, Kenneth D. Stuart, Sui Tsang, Ikuyo Ueda, Jean Wilson, Heidi J. Zapata
SCIENCE IMMUNOLOGY
(2017)