Article
Pharmacology & Pharmacy
Frank Eektimmerman, Jesse J. J. Swen, Alfons A. A. den Broeder, Johanna M. W. Hazes, Fina S. S. Kurreeman, Suzanne M. M. Verstappen, Nisha Nair, Andrzej Pawlik, Mike T. T. Nurmohamed, Vita Dolzan, Stefan Bohringer, Cornelia F. F. Allaart, Henk-Jan Guchelaar
Summary: This nested case-control genome-wide association study identified seven suggestive genetic variants associated with methotrexate-induced liver injury (MTX-DILI), located in the intronic protein-coding regions of FTCDNL1, BCOR, FGF14, RBMS3, and PFDN4/DOK5 genes. However, further investigation is needed to validate these results.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Urology & Nephrology
Cassianne Robinson-Cohen, Jefferson L. Triozzi, Bryce Rowan, Jing He, Hua C. Chen, Neil S. Zheng, Wei-Qi Wei, Otis D. Wilson, Jacklyn N. Hellwege, Philip S. Tsao, J. Michael Gaziano, Alexander Bick, Michael E. Matheny, Cecilia P. Chung, Loren Lipworth, Edward D. Siew, T. Alp Ikizler, Ran Tao, Adriana M. Hung
Summary: By conducting a meta-analysis of genome-wide association studies, three genetic loci associated with longitudinal eGFR change have been identified, shedding light on the molecular mechanisms of eGFR decline and potentially contributing to the development of new therapeutic approaches for progressive CKD.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Urology & Nephrology
Cassianne Robinson-Cohen, Jefferson L. Triozzi, Bryce Rowan, Jing He, Hua C. Chen, Neil S. Zheng, Wei-Qi Wei, Otis D. Wilson, Jacklyn N. Hellwege, Philip S. Tsao, J. Michael Gaziano, Alexander Bick, Michael E. Matheny, Cecilia P. Chung, Loren Lipworth, Edward D. Siew, T. Alp Ikizler, Ran Tao, Adriana M. Hung
Summary: The study identified three significant loci associated with longitudinal decline in eGFR, providing insights into the molecular mechanisms of eGFR decline and potential therapeutic approaches for progressive CKD.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Medicine, Research & Experimental
Jay R. Ebert, Agnes Magi, Eve Unt, Ele Prans, David J. Wood, Sulev Koks
Summary: This study aimed to identify genetic variations associated with high-level athletic performance and lower limb musculoskeletal injury. Through genome-wide association analysis, the researchers discovered single-nucleotide polymorphisms (SNPs) that are related to performance and injury. The findings are important for the development of individualized training and injury rehabilitation programs.
EXPERIMENTAL BIOLOGY AND MEDICINE
(2023)
Article
Medicine, General & Internal
Mart Kals, Kevin Kunzmann, Livia Parodi, Farid Radmanesh, Lindsay Wilson, Saef Izzy, Christopher D. Anderson, Ava M. Puccio, David O. Okonkwo, Nancy Temkin, Ewout W. Steyerberg, Murray B. Stein, Geoff T. Manley, Andrew I. R. Maas, Sylvia Richardson, Ramon Diaz-Arrastia, Aarno Palotie, Samuli Ripatti, Jonathan Rosand, David K. Menon
Summary: This study is the first genome-and transcriptome-wide association studies of genetic effects on outcome in traumatic brain injury (TBI). While no genetic variants with genome-wide significance were found, the overall heritability estimate is consistent with the hypothesis that common genetic variation substantially contributes to inter-individual variability in TBI outcome.
Article
Urology & Nephrology
Xu-Jie Zhou, Tao Su, Jingyuan Xie, Qiong-Hong Xie, Li-Zhong Wang, Yong Hu, Gang Chen, Yan Jia, Jun-Wen Huang, Gui Li, Yang Liu, Xiao-Juan Yu, Swapan K. Nath, Lam C. Tsoi, Matthew T. Patrick, Celine C. Berthier, Gang Liu, Su-Xia Wang, Huji Xu, Nan Chen, Chuan-Ming Hao, Hong Zhang, Li Yang
Summary: This study identified two candidate genome regions associated with susceptibility to acute tubulointerstitial nephritis (ATIN), suggesting a genetically conferred risk of immune dysregulation is involved in the pathogenesis of ATIN.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2023)
Article
Multidisciplinary Sciences
Mina-A Jhun, Michael Mendelson, Rory Wilson, Rahul Gondalia, Roby Joehanes, Elias Salfati, Xiaoping Zhao, Kim Valeska Emilie Braun, Anh Nguyet Do, Asa K. Hedman, Tao Zhang, Elena Carnero-Montoro, Jincheng Shen, Traci M. Bartz, Jennifer A. Brody, May E. Montasser, Jeff R. O'Connell, Chen Yao, Rui Xia, Eric Boerwinkle, Megan Grove, Weihua Guan, Pfeiffer Liliane, Paula Singmann, Martina Mueller-Nurasyid, Thomas Meitinger, Christian Gieger, Annette Peters, Wei Zhao, Erin B. Ware, Jennifer A. Smith, Klodian Dhana, Joyce van Meurs, Andre Uitterlinden, Mohammad Arfan Ikram, Mohsen Ghanbari, Deugi Zhi, Stefan Gustafsson, Lars Lind, Shengxu Li, Dianjianyi Sun, Tim D. Spector, Yii-der Ida Chen, Coleen Damcott, Alan R. Shuldiner, Devin M. Absher, Steve Horvath, Philip S. Tsao, Sharon Kardia, Bruce M. Psaty, Nona Sotoodehnia, Jordana T. Bell, Erik Ingelsson, Wei Chen, Abbas Dehghan, Donna K. Arnett, Melanie Waldenberger, Lifang Hou, Eric A. Whitsel, Andrea Baccarelli, Daniel Levy, Myriam Fornage, Marguerite R. Irvin, Themistocles L. Assimes
Summary: The study reveals strong and consistent associations between DNA methylation and blood lipid levels across multiple racial/ethnic groups, with specific and common CpG-lipid trait associations identified through a large-scale multi-ethnic epigenome-wide association study.
NATURE COMMUNICATIONS
(2021)
Article
Obstetrics & Gynecology
Hamdi Mbarek, Scott D. Gordon, David L. Duffy, Nikki Hubers, Sally Mortlock, Jeffrey J. Beck, Jouke-Jan Hottenga, Rene Pool, Conor Dolan, Ky'Era Actkins, Zachary F. Gerring, Jenny Van Dongen, Erik A. Ehli, William G. Iacono, Matt Mcgue, Daniel Chasman, C. Scott Gallagher, Samantha L. P. Schilit, Cynthia C. Morton, Guillaume Pare, Gonneke Willemsen, David C. Whiteman, Catherine M. Olsen, Catherine Derom, Robert Vlietinck, Daniel Gudbjartsson, Lisa Cannon-Albright, Eva Krapohl, Robert Plomin, Patrik K. E. Magnusson, Nancy L. Pedersen, Pirro Hysi, Massimo Mangino, Timothy D. Spector, Teemu Palviainen, Yuri Milaneschi, Brenda W. Penninnx, Adrian Campos, Ken K. Ong, John R. B. Perry, Cornelis B. Lambalk, Jaakko Kaprio, Isleifur Olafsson, Karine Duroure, Celine Revenu, Miguel E. Renteria, Loic Yengo, Lea Davis, Eske M. Derks, Sarah E. Medland, Hreinn Stefansson, Kari Stefansson, Filippo Del Bene, Bruno Reversade, Grant W. Montgomery, Dorret Boomsma, Nicholas G. Martin
Summary: This study identified four new loci associated with female propensity for giving birth to spontaneous dizygotic twins. The novel loci, GNRH1 and FSHR, have established roles in female reproduction, while ZFPM1 and IPO8 were not previously linked to female fertility. The study also found significant genetic correlations with multiple aspects of female reproduction and body size, suggesting important roles in human evolution.
HUMAN REPRODUCTION
(2023)
Article
Urology & Nephrology
Stella Koutros, Lambertus A. Kiemeney, Parichoy Pal Choudhury, Roger L. Milne, Evangelina Lopez de Maturana, Yuanqing Ye, Vijai Joseph, Oscar Florez-Vargas, Lars Dyrskjot, Jonine Figueroa, Diptavo Dutta, Graham G. Giles, Michelle A. T. Hildebrandt, Kenneth Offit, Manolis Kogevinas, Elisabete Weiderpass, Marjorie L. McCullough, Neal D. Freedman, Demetrius Albanes, Charles Kooperberg, Victoria K. Cortessis, Margaret R. Karagas, Alison Johnson, Molly R. Schwenn, Dalsu Baris, Helena Furberg, Dean F. Bajorin, Olivier Cussenot, Geraldine Cancel-Tassin, Simone Benhamou, Peter Kraft, Stefano Porru, Angela Carta, Timothy Bishop, Melissa C. Southey, Giuseppe Matullo, Tony Fletcher, Rajiv Kumar, Jack A. Taylor, Philippe Lamy, Frederik Prip, Mark Kalisz, Stephanie J. Weinstein, Jan G. Hengstler, Silvia Selinski, Mark Harland, Mark Teo, Anne E. Kiltie, Adonina Tardon, Consol Serra, Alfredo Carrato, Reina Garcia-Closas, Josep Lloreta, Alan Schned, Petra Lenz, Elio Riboli, Paul Brennan, Anne Tjonneland, Thomas Otto, Daniel Ovsiannikov, Frank Volkert, Sita H. Vermeulen, K. K. Aben, Tessel E. Galesloot, Constance Turman, Immaculata De Vivo, Edward Giovannucci, David J. Hunter, Chancellor Hohensee, Rebecca Hunt, Alpa V. Patel, Wen-Yi Huang, Gudmar Thorleifsson, Manuela Gago-Dominguez, Pilar Amiano, Klaus Golka, Mariana C. Stern, Wusheng Yan, Jia Liu, Shengchao Alfred, Shilpa Katta, Amy Hutchinson, Belynda Hicks, William A. Wheeler, Mark P. Purdue, Katherine A. McGlynn, Cari M. Kitahara, Christopher A. Haiman, Mark H. Greene, Thorunn Rafnar, Nilanjan Chatterjee, Stephen J. Chanock, Xifeng Wu, Francisco X. Real, Debra T. Silverman, Montserrat Garcia-Closas, Kari Stefansson, Ludmila Prokunina-Olsson, Nuria Malats, Nathaniel Rothman
Summary: A meta-analysis of 32 studies identified novel genetic variants associated with bladder cancer risk and constructed a polygenic risk score (PRS) to stratify lifetime risk. These findings provide insights into the biological underpinnings of bladder cancer and have the potential to inform future preventive strategies.
Article
Hematology
Paola Leon-Mimila, Hugo Villamil-Ramirez, Luis R. Macias-Kauffer, Leonor Jacobo-Albavera, Blanca E. Lopez-Contreras, Rosalinda Posadas-Sanchez, Carlos Posadas-Romero, Sandra Romero-Hidalgo, Sofia Moran-Ramos, Mayra Dominguez-Perez, Marisol Olivares-Arevalo, Priscilla Lopez-Montoya, Roberto Nieto-Guerra, Victor Acuna-Alonzo, Gaston Macin-Perez, Rodrigo Barquera-Lozano, Blanca E. Del-Rio-Navarro, Israel Gonzalez-Gonzalez, Francisco Campos-Perez, Francisco Gomez-Perez, Victor J. Valdes, Alicia Sampieri, Juan G. Reyes-Garcia, Miriam Del C. Carrasco-Portugal, Francisco J. Flores-Murrieta, Carlos A. Aguilar-Salinas, Gilberto Vargas-Alarcon, Diana Shih, Peter J. Meikle, Anna C. Calkin, Brian G. Drew, Luis Vaca, Aldons J. Lusis, Adriana Huertas-Vazquez, Teresa Villarreal-Molina, Samuel Canizales-Quinteros
Summary: The study identified a genetic variant in the SIDT2 gene associated with HDL-C levels and cardiovascular risk in Mexicans, with implications for cholesterol and lipoprotein metabolism. The SIDT2/Val636Ile variant was more common in Native American populations and linked to lower LDL-C and ApoB levels. Further investigation showed that the variant affects cholesterol transport function, highlighting SIDT2 as a new player in human lipid metabolism.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Lijun Zhang, Chuhe Liu, Liufang Yin, Cheng Huang, Shengjie Fan
Summary: Hepatic fibrosis is a late stage process of chronic liver diseases, and blocking this process is beneficial for treatment and recovery. Mangiferin has been found to relieve tissue fibrosis in animal models through anti-inflammatory and anti-oxidative effects. This study investigated the effects of mangiferin on CCl4-induced liver fibrosis in mice and found that it alleviated liver damage and reduced collagen accumulation through inhibiting NF-kappa B signaling.
SCIENTIFIC REPORTS
(2023)
Article
Oncology
Harkeran K. Jandu, Colin D. Veal, Laura Fachal, Craig Luccarini, Miguel E. Aguado-Barrera, Manuel Altabas, David Azria, Adinda Baten, Celine Bourgier, Renee Bultijnck, Riccardo R. Colciago, Marie-Pierre Farcy-Jacquet, Jenny Chang-Claude, Ananya Choudhury, Alison Dunning, Rebecca M. Elliott, Sheryl Green, Sara Gutierrez-Enriquez, Carsten Herskind, Maarten Lambrecht, Christel Monten, Tiziana Rancati, Victoria Reyes, Barry S. Rosenstein, Dirk De Ruysscher, Maria Carmen De Santis, Petra Seibold, Elena Sperk, Marlon Veldwijk, R. Paul Symonds, Hilary Stobart, Begona Taboada-Valladares, Ana Vega, Liv Veldeman, Adam J. Webb, Caroline Weltens, Catharine M. West, Tim Rattay, Christopher J. Talbot
Summary: This study aimed to identify common single nucleotide polymorphisms (SNPs) associated with long-term toxicity following whole breast radiotherapy in breast cancer patients. A genome-wide association study was performed, and multiple SNPs were found to have significant associations with distinct toxicity endpoints. This study provides further evidence for tailoring treatment plans based on individual genetic profiles.
RADIOTHERAPY AND ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Triin Laisk, Maarja Lepamets, Mariann Koel, Erik Abner, Andres Metspalu, Reedik Maegi
Summary: Pernicious anemia is a rare condition with a clear autoimmune basis, often caused by autoimmune gastritis, and associated with a higher risk of other autoimmune disorders. A genome-wide association study meta-analysis identified significant associations between pernicious anemia and genetic risk factors in genes such as PTPN22, PNPT1, HLA-DQB1, IL2RA, and AIRE.
NATURE COMMUNICATIONS
(2021)
Article
Urology & Nephrology
Bridget M. Lin, Ying Zhang, Bing Yu, Eric Boerwinkle, Bharat Thygarajan, Milagros Yunes, Martha L. Daviglus, Qibin Qi, Robert Kaplan, James Lash, Jianwen Cai, Tamar Sofer, Nora Franceschini
Summary: This study aimed to identify the source of variability in the association of metabolites with estimated glomerular filtration rate (eGFR) in Hispanics/Latinos with low chronic kidney disease prevalence. The results suggest that complex mechanisms contribute to the association of eGFR with metabolites and provide new insights into these associations.
KIDNEY INTERNATIONAL
(2022)
Article
Cell Biology
Frode Norheim, Yehudit Hasin-Brumshtein, Laurent Vergnes, Karthickeyan Chella Krishnan, Calvin Pan, Marcus M. Seldin, Simon T. Hui, Margarete Mehrabian, Zhiqiang Zhou, Sonul Gupta, Brian W. Parks, Axel Walch, Karen Reue, Susanna M. Hofmann, Arthur P. Arnold, Aldons J. Lusis
Article
Biochemistry & Molecular Biology
Nathan T. Ross, Felix Lohmann, Seth Carbonneau, Aleem Fazal, Wilhelm A. Weihofen, Scott Gleim, Michael Salcius, Frederic Sigoillot, Martin Henault, Sarah H. Carl, Juan B. Rodriguez-Molina, Howard R. Miller, Scott M. Brittain, Jason Murphy, Mark Zambrowski, Geoffrey Boynton, Yuan Wang, Aye Chen, Gregory J. Molind, Johannes H. Wilbertz, Caroline G. Artus-Revel, Min Jia, Favour A. Akinjiyan, Jonathan Turner, Judith Knehr, Walter Carbone, Sven Schuierer, John S. Reece-Hoyes, Kevin Xie, Chitra Saran, Eric T. Williams, Guglielmo Roma, Matt Spencer, Jeremy Jenkins, Elizabeth L. George, Jason R. Thomas, Gregory Michaud, Markus Schirle, John Tallarico, Lori A. Passmore, Jeffrey A. Chao, Rohan E. J. Beckwith
NATURE CHEMICAL BIOLOGY
(2020)
Correction
Biochemistry & Molecular Biology
Nathan T. Ross, Felix Lohmann, Seth Carbonneau, Aleem Fazal, Wilhelm A. Weihofen, Scott Gleim, Michael Salcius, Frederic Sigoillot, Martin Henault, Sarah H. Carl, Juan B. Rodriguez-Molina, Howard R. Miller, Scott M. Brittain, Jason Murphy, Mark Zambrowski, Geoffrey Boynton, Yuan Wang, Aye Chen, Gregory J. Molind, Johannes H. Wilbertz, Caroline G. Artus-Revel, Min Jia, Favour A. Akinjiyan, Jonathan Turner, Judith Knehr, Walter Carbone, Sven Schuierer, John S. Reece-Hoyes, Kevin Xie, Chitra Saran, Eric T. Williams, Guglielmo Roma, Matt Spencer, Jeremy Jenkins, Elizabeth L. George, Jason R. Thomas, Gregory Michaud, Markus Schirle, John Tallarico, Lori A. Passmore, Jeffrey A. Chao, Rohan E. J. Beckwith
NATURE CHEMICAL BIOLOGY
(2020)
Article
Multidisciplinary Sciences
Marek J. Kobylarz, Jonathan M. Goodwin, Zhao B. Kang, John W. Annand, Sarah Hevi, Ellen O'Mahony, Gregory McAllister, John Reece-Hoyes, Qiong Wang, John Alford, Carsten Russ, Alicia Lindeman, Martin Beibel, Guglielmo Roma, Walter Carbone, Judith Knehr, Joseph Loureiro, Christophe Antczak, Dmitri Wiederschain, Leon O. Murphy, Suchithra Menon, Beat Nyfeler
Article
Biochemistry & Molecular Biology
Frode Norheim, Karthickeyan Chella Krishnan, Thomas Bjellaas, Laurent Vergnes, Calvin Pan, Brian W. Parks, Yonghong Meng, Jennifer Lang, James A. Ward, Karen Reue, Margarete Mehrabian, Thomas E. Gundersen, Miklos Peterfy, Knut T. Dalen, Christian A. Drevon, Simon T. Hui, Aldons J. Lusis, Marcus M. Seldin
Summary: This study integrated global hepatic lipid data with other omics measures and genetic data to elucidate the contributions of specific lipid species to metabolic traits. Pathways and genes underlying these interactions were revealed through association mapping, correlation, structure analyses, and network modeling. In particular, Ifi203 and Map2k6 were identified as regulators of hepatic phosphatidylcholine homeostasis and triacylglycerol accumulation, highlighting mechanisms for how genetic variation in hepatic lipidome can be linked to physiological and molecular phenotypes such as microbiota composition.
MOLECULAR SYSTEMS BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Gabi Schutzius, Christian Kolter, Sebastian Bergling, Federico Tortelli, Florian Fuchs, Steffen Renner, Vito Guagnano, Simona Cotesta, Heinrich Rueeger, Michael Faller, Laure Bouchez, Adrian Salathe, Florian Nigsch, Shola M. Richards, Malvina Louis, Viktoria Gruber, Alexandra Aebi, Jonathan Turner, Frederic Grandjean, Jun Li, Chris Dimitri, Jason R. Thomas, Markus Schirle, Jutta Blank, Peter Drueckes, Andrea Vaupel, Ralph Tiedt, Paul W. Manley, Julia Klopp, Rene Hemmig, Florence Zink, Nelly Leroy, Walter Carbone, Guglielmo Roma, Caroline Gubser Keller, Natalie Dales, Armin Beyerbach, Alfred Zimmerlin, Debora Bonenfant, Remi Terranova, Amy Berwick, Sukhdeep Sahambi, Aimee Reynolds, Lori L. Jennings, Heinz Ruffner, Peter Tarsa, Tewis Bouwmeester, Vickie Driver, Mathias Frederiksen, Felix Lohmann, Susan Kirkland
Summary: Research has found that BET protein family inhibitors (BETi) can promote the activation and migratory state of keratinocytes, thereby enhancing skin wound healing. This may offer a new potential treatment approach for skin wounds.
NATURE CHEMICAL BIOLOGY
(2021)
Article
Multidisciplinary Sciences
Rui Lopes, Kathleen Sprouffske, Caibin Sheng, Esther C. H. Uijttewaal, Adriana Emma Wesdorp, Jan Dahinden, Simon Wengert, Juan Diaz-Miyar, Umut Yildiz, Melusine Bleu, Verena Apfel, Fanny Mermet-Meillon, Rok Krese, Mathias Eder, Andre Vidas Olsen, Philipp Hoppe, Judith Knehr, Walter Carbone, Rachel Cuttat, Annick Waldt, Marc Altorfer, Ulrike Naumann, Joachim Weischenfeldt, Antoine DeWeck, Audrey Kauffmann, Guglielmo Roma, Dirk Schubeler, Giorgio G. Galli
Summary: Using CRISPR screens and epigenomic profiling, the study reveals the oncogenic role of ER in breast cancer. It shows that ER engages with specific TREs enriched in certain signals to control critical downstream TFs, with TFAP2C playing a crucial role in ER-driven cell proliferation.
Article
Cell & Tissue Engineering
Rosemarie Ungricht, Laure Guibbal, Marie-Christine Lasbennes, Vanessa Orsini, Martin Beibel, Annick Waldt, Rachel Cuttat, Walter Carbone, Anne Basler, Guglielmo Roma, Florian Nigsch, Jan S. Tchorz, Dominic Hoepfner, Philipp S. Hoppe
Summary: Human organoids provide valuable insights into proliferation, lineage specification, and 3D tissue development. In this study, a genome-wide CRISPR screen was conducted in induced pluripotent stem cell (iPSC)-derived kidney organoids, resulting in a complex and high-quality dataset. The findings shed light on various aspects of biology, ranging from early development to adult epithelial morphogenesis. The dataset not only enhances mesoderm induction and identifies kidney disease genes, but also confirms genetic anomalies and provides a list of potential ciliopathy-related genes.
Article
Physiology
Timothy M. Moore, Anthony Terrazas, Alexander R. Strumwasser, Amanda J. Lin, Xiaopeng Zhu, Akshay T. S. Anand, Christina Q. Nguyen, Linsey Stiles, Frode Norheim, Jennifer M. Lang, Simon T. Hui, Lorraine P. Turcotte, Zhenqi Zhou
Summary: Physical activity can ameliorate some aspects of metabolic syndrome progression and alter gut microbiome composition, as shown in the study utilizing LDLR knockout mice on a Western Diet.
PHYSIOLOGICAL REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Feng Wang, Frank Stappenbeck, Liu-Ya Tang, Ying E. Zhang, Simon T. Hui, Aldons J. Lusis, Farhad Parhami
Summary: Inflammatory responses are crucial for protecting against infections and maintaining health. Many diseases involve chronic inflammation, but current anti-inflammatory drugs often have adverse effects for long-term use. Therefore, the development of effective and non-toxic anti-inflammatory drugs is important. A semi-synthetic oxysterol called Oxy210 and its analogs have been found to exhibit anti-inflammatory effects in both animal models and cell experiments, making them potential candidates for future therapeutic development against inflammatory diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biotechnology & Applied Microbiology
Vincent Hahaut, Dinko Pavlinic, Walter Carbone, Sven Schuierer, Pierre Balmer, Mathieu Quinodoz, Magdalena Renner, Guglielmo Roma, Cameron S. Cowan, Simone Picelli
Summary: FLASH-seq (FS) is a full-length single-cell RNA sequencing method that offers increased sensitivity and reduced hands-on time compared to Smart-seq3. It can be easily automated and miniaturized to decrease resource consumption.
NATURE BIOTECHNOLOGY
(2022)
Article
Gastroenterology & Hepatology
Simon T. Hui, Lili Gong, Chantle Swichkow, Montgomery Blencowe, Dorota Kaminska, Graciel Diamante, Calvin Pan, Meet Dalsania, Samuel W. French, Clara E. Magyar, Paivi Pajukanta, Jussi Pihlajamaki, Kristina I. Bostrom, Xia Yang, Aldons J. Lusis
Summary: This study identified candidate genes and pathways involved in the pathogenesis of nonalcoholic steatohepatitis (NASH) by integrating genetic, transcriptomic, and phenotypic data. The study found that Matrix Gla Protein (MGP) plays a regulatory role in liver fibrosis and TGF-beta signaling in hepatic stellate cells, contributing to the development of NASH.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2023)
Article
Endocrinology & Metabolism
Simon T. Hui, Feng Wang, Frank Stappenbeck, Samuel W. French, Clara E. Magyar, Farhad Parhami, Aldons J. Lusis
Summary: NASH is associated with increased morbidity and mortality in NAFLD patients, and liver fibrosis is a strong prognostic factor. Oxy210 reduces hepatic fibrosis in NASH by inhibiting Hh and TGF-beta signaling. In mouse studies, Oxy210 not only decreased liver fibrosis but also improved hypercholesterolemia.
ENDOCRINOLOGY DIABETES & METABOLISM
(2021)
Article
Gastroenterology & Hepatology
Kyle G. Williams, Ramya Kongala, Donna M. Shows, Andrew J. Konecny, Duncan C. Hindmarch, Astrid S. Clarke, James D. Lord
Summary: CD8 T-cell clones are found homogeneously throughout the length of the colon in patients with inflammatory bowel disease (IBD), regardless of inflammation. There is a high degree of repertoire overlap for T-cell receptor (TCR) between the colon and peripheral blood, suggesting T-cell trafficking plays a significant role in the pathogenesis of IBD, particularly in relation to the alpha 4 beta 7+ T-cell subpopulation.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2024)
Article
Gastroenterology & Hepatology
Yueqi Zhang, Yue Luo, Xinhui Liu, Matti Kiupel, Aimin Li, Hongbing Wang, Qing-Sheng Mi, Hua Xiao
Summary: This study reveals a novel mechanism for the onset of NAFLD/NASH and HCC initiated by NCOA5-deficient macrophages, suggesting the NCOA5-PF4 axis in macrophages as a potential target for developing preventive and therapeutic interventions against NAFLD/NASH and HCC.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2024)
Article
Gastroenterology & Hepatology
Daria Krzikalla, Alena Laschtowitz, Lisa Leypoldt, Cornelia Gottwick, Pia Averhoff, Soren Weidemann, Ansgar W. Lohse, Samuel Huber, Christoph Schramm, Dorothee Schwinge, Johannes Herkel, Antonella Carambia
Summary: This study investigated the immune mechanisms that establish liver tolerance. It was found that MBP-specific T cells were activated to produce IFN-gamma in the liver, which induced the up-regulation of recruitment molecules and redirected the T cells into the liver parenchyma. Some of the translocated T cells converted into regulatory T cells producing IL-10 and up-regulated the expression of immune checkpoint molecules. The up-regulation of IFN gamma and immune checkpoint molecules, including CTLA-4, were essential for tolerance induction in the liver.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2024)
Review
Gastroenterology & Hepatology
Hyun Young Kim, Sadatsugu Sakane, Alvaro Eguileor, Raquel Carvalho Gontijo Weber, Wonseok Lee, Xiao Liu, Kevin Lam, Kei Ishizuka, Sara Brin Rosenthal, Karin Diggle, David A. Brenner, Tatiana Kisseleva
Summary: Liver fibrosis is a serious global health problem with no effective therapy currently available. Studies have shown that liver fibrosis is reversible and regression can occur when the underlying cause is removed. This review discusses the research progress in understanding the molecular mechanisms underlying the development and reversibility of liver fibrosis.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2024)
Article
Gastroenterology & Hepatology
Quan Pan, Mingming Gao, Dami Kim, Weiqi Ai, Wanbao Yang, Wen Jiang, Wesley Brashear, Yujiao Dai, Sha Li, Yuxiang Sun, Yajuan Qi, Shaodong Guo
Summary: This study investigates the role of hepatocyte FoxO1 in liver fibrosis and finds that it mediates CCL4-induced liver fibrosis through upregulating hepatocyte TGF-beta 1 expression, stimulating hepatic inflammation, and TGF-beta 1-mediated HSC activation.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2024)