Article
Biochemistry & Molecular Biology
Barbara De Kegel, Colm J. Ryan
Summary: Genomic instability is a hallmark of cancer, and the dispensability of paralogs influences tumor genome evolution. It was found that genes with paralogs are more likely to be homozygously deleted, and paralogs that are essential in cancer cell lines are less frequently deleted in tumors.
MOLECULAR SYSTEMS BIOLOGY
(2023)
Article
Medicine, Research & Experimental
Yaozhen Pan, Lei Zhan, Ling Chen, Liwen Chen, Chengyi Sun
Summary: The study shows that the highly expressed miR-660 in liver cancer promotes cell proliferation by targeting PPP2R2A, and regulates cell proliferation by controlling cell cycle progression.
EXPERIMENTAL AND THERAPEUTIC MEDICINE
(2021)
Article
Multidisciplinary Sciences
Yasaman Barekatain, Jeffrey J. Ackroyd, Victoria C. Yan, Sunada Khadka, Lin Wang, Ko-Chien Chen, Anton H. Poral, Theresa Tran, Dimitra K. Georgiou, Kenisha Arthur, Yu-Hsi Lin, Nikunj Satani, Elliot S. Ballato, Eliot Behr, Ana C. deCarvalho, Roel G. W. Verhaak, John de Groot, Jason T. Huse, John M. Asara, Raghu Kalluri, Florian L. Muller
Summary: The homozygous deletion of MTAP in cancers like glioblastoma leads to elevated MTA levels, which inhibits PRMT5. However, primary glioblastoma tumors with MTAP deletion do not significantly accumulate MTA in vivo, as it is metabolized by MTAP-intact cells in the tumor microenvironment.
NATURE COMMUNICATIONS
(2021)
Article
Medicine, Research & Experimental
Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E. Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F. Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, Rene G. Feichtinger, Kristine Gampe, Lillian Garrett, Kai P. Hoefig, Sabine M. Hoelter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A. Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H. Walter, Wolfgang Wurst, Johannes A. Mayr, Helmut Fuchs, Ulrich Gaertner, Ilka Wittig, Robert W. Taylor, William G. Newman, Holger Prokisch, Valerie Gailus-Durner, Martin Hrabe de Angelis
Summary: Mitochondrial disorders can manifest as a variety of clinical and genetic presentations, with isolated complex III deficiency being relatively uncommon. This study highlights a homozygous deletion in UQCRH as the genetic cause of complex III deficiency in two affected cousins, leading to severe metabolic disturbances and neurological complications. The generation of a mouse model with a comparable Uqcrh deletion confirmed the pathogenicity of this mutation and provides a valuable tool for future research on human complex III deficiency.
EMBO MOLECULAR MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Marie-Claude Beauchamp, Alexia Boucher, Yanchen Dong, Rachel Aber, Loydie A. Jerome-Majewska
Summary: This study demonstrates that craniofacial malformations and death in Eftud2(ncc-/-) embryos are caused by hyperactivation of the P53 pathway. Treatment with pifithrin-alpha partially improves craniofacial development, while Trp53 homozygous mutation reduces neural tube apoptosis and P53-target activity. However, the brain and craniofacial development remain unaffected in embryos with both Eftud2 and Trp53 mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Javier Megias, Teresa San-Miguel, Mirian Sanchez, Lara Navarro, Daniel Monleon, Silvia Calabuig-Farinas, Jose Manuel Morales, Lisandra Munoz-Hidalgo, Pedro Roldan, Miguel Cerda-Nicolas, Concha Lopez-Gines
Summary: This study reports a case of DIA with genetic features including a BRAF V600E mutation and a homozygous deletion in PTEN, which may be associated with its malignant behavior despite being typically benign.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Biochemistry & Molecular Biology
L. Eric Huang
Summary: CDKN2A/B homozygous deletion is associated with poor prognosis in glioma, but the new CNS WHO classification has upgraded IDH-mutant astrocytoma to grade IV, even without the histological features of glioblastoma. Understanding the mechanism of how IDH mutation and intact tumor-suppressor genes interact can improve therapeutics.
Article
Andrology
Yu-Zhao Wang, Yu-Chen Qian, Wen-Jie Yang, Lei-Hong Ye, Guo-Dong Guo, Wei Lv, Meng-Xi Huan, Xiao-Yu Feng, Ke Wang, Zhao Yang, Yang Gao, Lei Li, Yu-Le Chen
Summary: This study reveals that CHD1 deletion, a common mutation in prostate cancer, enhances HIF1 alpha expression through transcriptional downregulation of PHD2. This leads to the promotion of angiogenesis and metabolic reprogramming in prostate cancer through HIF1 alpha activation. These findings shed light on the role of CHD1 in prostate cancer progression.
ASIAN JOURNAL OF ANDROLOGY
(2023)
Article
Neurosciences
Jing Yang, Lei Li, Tao Luo, Chengsong Nie, Rui Fan, Deqiang Li, Rui Yang, Changru Zhou, Qian Li, Xiaofei Hu, Wei Chen
Summary: This study aimed to develop a predictive model for CDKN2A/B homozygous deletion in gliomas and investigate the prognostic value of this biomarker and radiomic features in IDH-mutant LGGs. The results showed that radiomic features accurately predict CDKN2A/B homozygous deletion, and CDKN2A/B homozygous deletion can be used as an independent predictor of prognosis in LGGs.
Review
Medicine, General & Internal
Shahneen Sandhu, Caroline M. Moore, Edmund Chiong, Himisha Beltran, Robert G. Bristow, Scott G. Williams
Summary: Management of prostate cancer is rapidly evolving with advances in understanding the genomic landscape, improved imaging methods, and personalised therapeutics targeting DNA repair pathways. The therapeutic framework for metastatic disease has shifted, with oligometastatic disease being evaluated for metastatic-directed therapies, and novel androgen pathway inhibitors showing significant survival benefits as first-line therapy for metastatic disease. Emerging research into molecular characterisation and novel therapeutics, such as targeted radioisotopes and immunotherapy, hold promise for improving patient outcomes.
Article
Biochemistry & Molecular Biology
Matteo C. Da Via, Oliver Dietrich, Marietta Truger, Panagiota Arampatzi, Johannes Duell, Anke Heidemeier, Xiang Zhou, Sophia Danhof, Sabrina Kraus, Manik Chatterjee, Manja Meggendorfer, Sven Twardziok, Maria-Elisabeth Goebeler, Max S. Topp, Michael Hudecek, Sabrina Prommersberger, Kristen Hege, Shari Kaiser, Viktoria Fuhr, Niels Weinhold, Andreas Rosenwald, Florian Erhard, Claudia Haferlach, Hermann Einsele, K. Martin Kortuem, Antoine-Emmanuel Saliba, Leo Rasche
Summary: BCMA serves as a target for immunotherapies and a biomarker for tumor load in MM. The study found a correlation between TNFRSF17 loss and BCMA loss, leading to immune escape. Heterozygous TNFRSF17 deletion at baseline in high hyperhaploid MM patients may increase the risk of BCMA loss after immunotherapy.
Article
Genetics & Heredity
Petr Andreevich Vasiluev, Olga N. Ivanova, Natalia A. Semenova, Tatiana Strokova, Natalia N. Taran, Uliana Chubykina, Marat Ezhov, Ekaterina Y. Zakharova, Elena L. Dadli, Sergey Kutsev
Summary: Hypertriglyceridemia is a common lipid metabolism disorder, and its severe form is associated with mutations in the LPL, APOC2, LMF1, and APOA5 genes. This case report presents a severe case of hypertriglyceridemia in a consanguineous family, caused by a homozygous deletion in the APOA5 gene. Additionally, a polymorphism in the LPL gene was found to worsen the disease course.
Article
Biology
Nehal Gupta, Hanbing Song, Wei Wu, Rovingaile K. Ponce, Yone K. Lin, Ji Won Kim, Eric J. Small, Felix Y. Feng, Franklin W. Huang, Ross A. Okimoto
Summary: This study reveals that the concurrent loss of CIC and ERF can drive prostate oncogenesis by mutually repressing ETS transcription factor ETV1. Targeting ETV1 can limit the growth of CIC and ERF-deficient prostate cancer.
Article
Neurosciences
Meenakshi Vij, Benjamin B. B. Cho, Raquel T. T. Yokoda, Omid Rashidipour, Melissa Umphlett, Timothy E. E. Richardson, Nadejda M. M. Tsankova
Summary: Molecular characterization of gliomas has identified CDKN2A as a tumor suppressor gene involved in cell cycle control. This study aimed to evaluate the use of immunohistochemistry for p16 expression as a marker for CDKN2A homozygous deletion in gliomas. The findings indicate that p16 immunohistochemistry is a reliable surrogate marker of CDKN2A homozygous deletion in gliomas.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Markus Steiner, Franz J. Gassner, Thomas Parigger, Daniel Neureiter, Alexander Egle, Roland Geisberger, Richard Greil, Nadja Zaborsky
Summary: Chronic lymphocytic leukemia (CLL) is associated with clonal hematopoiesis or germline predisposition, and in some cases, there may be bi- or oligoclonal CLL disease. Additionally, a rare germline polymorphism in the POLE gene detected in CLL patients may predispose them to cancer, particularly CLL.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Urology & Nephrology
A. Karim Kader, Michael A. Liss, Greg Trottier, Seong-Tae Kim, Jielin Sun, S. Lilly Zheng, Karen Chadwick, Gina Lockwood, Jianfeng Xu, Neil E. Fleshner
Article
Oncology
Junjie Feng, Seong-Tae Kim, Wennuan Liu, Jin Woo Kim, Zheng Zhang, Yi Zhu, Michael Berens, Jielin Sun, Jianfeng Xu
Article
Oncology
Wennuan Liu, Chunmei C. Xie, Christopher Y. Thomas, Seong-Tae Kim, Johan Lindberg, Lars Egevad, Zhong Wang, Zheng Zhang, Jishan Sun, Jielin Sun, Patrick P. Koty, A. Karim Kader, Scott D. Cramer, G. Steven Bova, S. Lilly Zheng, Henrik Groenberg, William B. Isaacs, Jianfeng Xu
Article
Oncology
Sha Tao, Zhong Wang, Junjie Feng, Fang-Chi Hsu, Guangfu Jin, Seong-Tae Kim, Zheng Zhang, Henrik Gronberg, Lilly S. Zheng, William B. Isaacs, Jianfeng Xu, Jielin Sun
Article
Urology & Nephrology
A. Karim Kader, Jielin Sun, Brian H. Reck, Paul J. Newcombe, Seong-Tae Kim, Fang-Chi Hsu, Ralph B. D'Agostino, Sha Tao, Zheng Zhang, Aubrey R. Turner, Greg T. Platek, Colin F. Spraggs, John C. Whittaker, Brian R. Lane, William B. Isaacs, Deborah A. Meyers, Eugene R. Bleecker, Frank M. Torti, Jeffery M. Trent, John D. McConnell, S. Lilly Zheng, Lynn D. Condreay, Roger S. Rittmaster, Jianfeng Xu
Article
Genetics & Heredity
Paul J. Newcombe, Brian H. Reck, Jielin Sun, Greg T. Platek, Claudio Verzilli, A. Karim Kader, Seong-Tae Kim, Fang-Chi Hsu, Zheng Zhang, S. Lilly Zheng, Vincent E. Mooser, Lynn D. Condreay, Colin F. Spraggs, John C. Whittaker, Roger S. Rittmaster, Jianfeng Xu
GENETIC EPIDEMIOLOGY
(2012)
Article
Gastroenterology & Hepatology
Meian He, Chen Wu, Jianfeng Xu, Huan Guo, Handong Yang, Xiaomin Zhang, Jielin Sun, Dianke Yu, Li Zhou, Tao Peng, Yunfeng He, Yong Gao, Jing Yuan, Qifei Deng, Xiayun Dai, Aihua Tan, Yingying Feng, Haiying Zhang, Xinwen Min, Xiaobo Yang, Jiang Zhu, Kan Zhai, Jiang Chang, Xue Qin, Wen Tan, Yanling Hu, Mingjian Lang, Sha Tao, Yuanfeng Li, Yi Li, Junjie Feng, Dongfeng Li, Seong-Tae Kim, Shijun Zhang, Hongxing Zhang, S. Lilly Zheng, Lixuan Gui, Youjie Wang, Sheng Wei, Feng Wang, Weimin Fang, Yuan Liang, Yun Zhai, Weihong Chen, Xiaoping Miao, Gangqiao Zhou, Frank B. Hu, Dongxin Lin, Zengnan Mo, Tangchun Wu
Article
Genetics & Heredity
Jielin Sun, Sha Tao, Yong Gao, Tao Peng, Aihua Tan, Haiying Zhang, Xiaobo Yang, Xue Qin, Yanling Hu, Junjie Feng, Seong-Tae Kim, Xiaoling Lin, Yongming Wu, Ju Zhang, Zhixian Li, Li Li, Linjian Mo, Zhengjia Liang, Deyi Shi, Zhang Huang, Xianghua Huang, Ming Liu, Qian Liu, Shijun Zhang, S. Lilly Zheng, Jianfeng Xu, Zengnan Mo
Article
Genetics & Heredity
Zhuo Chen, Sha Tao, Yong Gao, Ju Zhang, Yanling Hu, Linjian Mo, Seong-Tae Kim, Xiaobo Yang, Aihua Tan, Haiying Zhang, Xue Qin, Li Li, Yongming Wu, Shijun Zhang, S. Lilly Zheng, Jianfeng Xu, Zengnan Mo, Jielin Sun
JOURNAL OF MEDICAL GENETICS
(2013)
Article
Endocrinology & Metabolism
Yizhen Lu, Jielin Sun, Andrew K. Kader, Seong-Tae Kim, Jin-Woo Kim, Wennuan Liu, Jishan Sun, Daru Lu, Junjie Feng, Yi Zhu, Tao Jin, Zheng Zhang, Latchezar Dimitrov, James Lowey, Kevin Campbell, Edward Suh, David Duggan, John Carpten, Jeffrey M. Trent, Henrik Gronberg, S. Lilly Zheng, William B. Isaacs, Jianfeng Xu
Article
Genetics & Heredity
Xiaobo Yang, Jielin Sun, Yong Gao, Aihua Tan, Haiying Zhang, Yanling Hu, Junjie Feng, Xue Qin, Sha Tao, Zhuo Chen, Seong-Tae Kim, Tao Peng, Ming Liao, Xiaoling Lin, Zengfeng Zhang, Minzhong Tang, Li Li, Linjian Mo, Zhengjia Liang, Deyi Shi, Zhang Huang, Xianghua Huang, Ming Liu, Qian Liu, Shijun Zhang, Jeffrey M. Trent, S. Lilly Zheng, Jianfeng Xu, Zengnan Mo
Article
Oncology
Zhuo Chen, Jielin Sun, Seong-Tae Kim, Jack Groskopf, Junjie Feng, William B. Isaacs, Roger S. Rittmaster, Lynn D. Condreay, Siqun Lilly Zheng, Jianfeng Xu
Article
Oncology
Guangfu Jin, Siqun Lilly Zheng, Hans Lilja, Seong-Tae Kim, Sha Tao, Zhengrong Gao, Tracey Young, Fredrik Wiklund, Junjie Feng, William B. Isaacs, Roger S. Rittmaster, Henrik Gronberg, Lynn D. Condreay, Jielin Sun, Jianfeng Xu
Article
Statistics & Probability
Joseph L. Graves, Gizem Templeton, Lauren Davis, Seong-Tae Kim
Summary: In partnership with community leaders of Durham, North Carolina, the Duke World Food Policy Center has created a Durham Food Justice Plan (DFJP) to envision an equitable food system. By incorporating Durham's local food history and utilizing multisource data in Tableau, a food landscape platform was developed to study relationships between food vendors and demographic data in Durham. This visualization allows for interactive analysis and insight into food inequity issues in the area.
Article
Psychology, Educational
Angela M. White, Jessica T. DeCuir-Gunby, Seongtae Kim
CONTEMPORARY EDUCATIONAL PSYCHOLOGY
(2019)