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Eric N. Olson

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https://www.readbyqxmd.com/read/29756246/ewing-sarcoma-of-the-head-and-neck-the-mayo-clinic-experience
#1
Michael D Olson, Kathryn M Van Abel, Rebecca N Wehrs, Joaquin J Garcia, Eric J Moore
BACKGROUND: Treatment options of Ewing sarcoma of the head and neck include surgery, radiotherapy (RT), and chemoradiotherapy. However, local control can be challenging. METHODS: We conducted a retrospective review of all patients with head and neck Ewing sarcoma treated from 1972 to 2015 at a single tertiary care hospital. RESULTS: Seventeen patients met criteria (median 21 years, range 5-58 years; 5 women). Mean follow-up was 10.4 years (range 2...
May 13, 2018: Head & Neck
https://www.readbyqxmd.com/read/29717930/myoediting-toward-prevention-of-muscular-dystrophy-by-therapeutic-genome-editing
#2
Yu Zhang, Chengzu Long, Rhonda Bassel-Duby, Eric N Olson
Muscular dystrophies represent a large group of genetic disorders that significantly impair quality of life and often progress to premature death. There is no effective treatment for these debilitating diseases. Most therapies, developed to date, focus on alleviating the symptoms or targeting the secondary effects, while the underlying gene mutation is still present in the human genome. The discovery and application of programmable nucleases for site-specific DNA double-stranded breaks provides a powerful tool for precise genome engineering...
July 1, 2018: Physiological Reviews
https://www.readbyqxmd.com/read/29581287/fusogenic-micropeptide-myomixer-is-essential-for-satellite-cell-fusion-and-muscle-regeneration
#3
Pengpeng Bi, John R McAnally, John M Shelton, Efrain Sánchez-Ortiz, Rhonda Bassel-Duby, Eric N Olson
Regeneration of skeletal muscle in response to injury occurs through fusion of a population of stem cells, known as satellite cells, with injured myofibers. Myomixer, a muscle-specific membrane micropeptide, cooperates with the transmembrane protein Myomaker to regulate embryonic myoblast fusion and muscle formation. To investigate the role of Myomixer in muscle regeneration, we used CRISPR/Cas9-mediated genome editing to generate conditional knockout Myomixer alleles in mice. We show that genetic deletion of Myomixer in satellite cells using a tamoxifen-regulated Cre recombinase transgene under control of the Pax7 promoter abolishes satellite cell fusion and prevents muscle regeneration, resulting in severe muscle degeneration after injury...
March 26, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29467163/stac-proteins-associate-with-the-critical-domain-for-excitation-contraction-coupling-in-the-ii-iii-loop-of-ca-v-1-1
#4
Alexander Polster, Benjamin R Nelson, Symeon Papadopoulos, Eric N Olson, Kurt G Beam
In skeletal muscle, residues 720-764/5 within the CaV 1.1 II-III loop form a critical domain that plays an essential role in transmitting the excitation-contraction (EC) coupling Ca2+ release signal to the type 1 ryanodine receptor (RyR1) in the sarcoplasmic reticulum. However, the identities of proteins that interact with the loop and its critical domain and the mechanism by which the II-III loop regulates RyR1 gating remain unknown. Recent work has shown that EC coupling in skeletal muscle of fish and mice depends on the presence of Stac3, an adaptor protein that is highly expressed only in skeletal muscle...
April 2, 2018: Journal of General Physiology
https://www.readbyqxmd.com/read/29404407/correction-of-diverse-muscular-dystrophy-mutations-in-human-engineered-heart-muscle-by-single-site-genome-editing
#5
Chengzu Long, Hui Li, Malte Tiburcy, Cristina Rodriguez-Caycedo, Viktoriia Kyrychenko, Huanyu Zhou, Yu Zhang, Yi-Li Min, John M Shelton, Pradeep P A Mammen, Norman Y Liaw, Wolfram-Hubertus Zimmermann, Rhonda Bassel-Duby, Jay W Schneider, Eric N Olson
Genome editing with CRISPR/Cas9 is a promising new approach for correcting or mitigating disease-causing mutations. Duchenne muscular dystrophy (DMD) is associated with lethal degeneration of cardiac and skeletal muscle caused by more than 3000 different mutations in the X-linked dystrophin gene ( DMD ). Most of these mutations are clustered in "hotspots." There is a fortuitous correspondence between the eukaryotic splice acceptor and splice donor sequences and the protospacer adjacent motif sequences that govern prokaryotic CRISPR/Cas9 target gene recognition and cleavage...
January 2018: Science Advances
https://www.readbyqxmd.com/read/29220697/metabolism-of-hydrogen-sulfide-h-2-s-and-production-of-reactive-sulfur-species-rss-by-superoxide-dismutase
#6
Kenneth R Olson, Yan Gao, Faihaan Arif, Kanika Arora, Shivali Patel, Eric R DeLeon, Thomas R Sutton, Martin Feelisch, Miriam M Cortese-Krott, Karl D Straub
Reactive sulfur species (RSS) such as H2 S, HS• , H2 Sn , (n = 2-7) and HS2 •- are chemically similar to H2 O and the reactive oxygen species (ROS) HO• , H2 O2 , O2 •- and act on common biological effectors. RSS were present in evolution long before ROS, and because both are metabolized by catalase it has been suggested that "antioxidant" enzymes originally evolved to regulate RSS and may continue to do so today. Here we examined RSS metabolism by Cu/Zn superoxide dismutase (SOD) using amperometric electrodes for dissolved H2 S, a polysulfide-specific fluorescent probe (SSP4), and mass spectrometry to identify specific polysulfides (H2 S2 -H2 S5 )...
May 2018: Redox Biology
https://www.readbyqxmd.com/read/29187645/single-cut-genome-editing-restores-dystrophin-expression-in-a-new-mouse-model-of-muscular-dystrophy
#7
Leonela Amoasii, Chengzu Long, Hui Li, Alex A Mireault, John M Shelton, Efrain Sanchez-Ortiz, John R McAnally, Samadrita Bhattacharyya, Florian Schmidt, Dirk Grimm, Stephen D Hauschka, Rhonda Bassel-Duby, Eric N Olson
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle disease caused by mutations in the dystrophin gene. The majority of DMD mutations are deletions that prematurely terminate the dystrophin protein. Deletions of exon 50 of the dystrophin gene are among the most common single exon deletions causing DMD. Such mutations can be corrected by skipping exon 51, thereby restoring the dystrophin reading frame. Using clustered regularly interspaced short palindromic repeats/CRISPR-associated 9 (CRISPR/Cas9), we generated a DMD mouse model by deleting exon 50...
November 29, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/29179954/universal-health-coverage-and-intersectoral-action-for-health-key-messages-from-disease-control-priorities-3rd-edition
#8
REVIEW
Dean T Jamison, Ala Alwan, Charles N Mock, Rachel Nugent, David Watkins, Olusoji Adeyi, Shuchi Anand, Rifat Atun, Stefano Bertozzi, Zulfiqar Bhutta, Agnes Binagwaho, Robert Black, Mark Blecher, Barry R Bloom, Elizabeth Brouwer, Donald A P Bundy, Dan Chisholm, Alarcos Cieza, Mark Cullen, Kristen Danforth, Nilanthi de Silva, Haile T Debas, Peter Donkor, Tarun Dua, Kenneth A Fleming, Mark Gallivan, Patricia J Garcia, Atul Gawande, Thomas Gaziano, Hellen Gelband, Roger Glass, Amanda Glassman, Glenda Gray, Demissie Habte, King K Holmes, Susan Horton, Guy Hutton, Prabhat Jha, Felicia M Knaul, Olive Kobusingye, Eric L Krakauer, Margaret E Kruk, Peter Lachmann, Ramanan Laxminarayan, Carol Levin, Lai Meng Looi, Nita Madhav, Adel Mahmoud, Jean Claude Mbanya, Anthony Measham, María Elena Medina-Mora, Carol Medlin, Anne Mills, Jody-Anne Mills, Jaime Montoya, Ole Norheim, Zachary Olson, Folashade Omokhodion, Ben Oppenheim, Toby Ord, Vikram Patel, George C Patton, John Peabody, Dorairaj Prabhakaran, Jinyuan Qi, Teri Reynolds, Sevket Ruacan, Rengaswamy Sankaranarayanan, Jaime Sepúlveda, Richard Skolnik, Kirk R Smith, Marleen Temmerman, Stephen Tollman, Stéphane Verguet, Damian G Walker, Neff Walker, Yangfeng Wu, Kun Zhao
The World Bank is publishing nine volumes of Disease Control Priorities, 3rd edition (DCP3) between 2015 and 2018. Volume 9, Improving Health and Reducing Poverty, summarises the main messages from all the volumes and contains cross-cutting analyses. This Review draws on all nine volumes to convey conclusions. The analysis in DCP3 is built around 21 essential packages that were developed in the nine volumes. Each essential package addresses the concerns of a major professional community (eg, child health or surgery) and contains a mix of intersectoral policies and health-sector interventions...
March 17, 2018: Lancet
https://www.readbyqxmd.com/read/29078404/requirement-of-the-fusogenic-micropeptide-myomixer-for-muscle-formation-in-zebrafish
#9
Jun Shi, Pengpeng Bi, Jimin Pei, Hui Li, Nick V Grishin, Rhonda Bassel-Duby, Elizabeth H Chen, Eric N Olson
Skeletal muscle formation requires fusion of mononucleated myoblasts to form multinucleated myofibers. The muscle-specific membrane proteins myomaker and myomixer cooperate to drive mammalian myoblast fusion. Whereas myomaker is highly conserved across diverse vertebrate species, myomixer is a micropeptide that shows relatively weak cross-species conservation. To explore the functional conservation of myomixer, we investigated the expression and function of the zebrafish myomixer ortholog. Here we show that myomixer expression during zebrafish embryogenesis coincides with myoblast fusion, and genetic deletion of myomixer using CRISPR/Cas9 mutagenesis abolishes myoblast fusion in vivo...
November 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29074525/considerations-for-cardiac-crispr
#10
EDITORIAL
Kelli J Carroll, Eric N Olson
No abstract text is available yet for this article.
October 27, 2017: Circulation Research
https://www.readbyqxmd.com/read/29069718/androgen-receptor-amplification-is-concordant-between-circulating-tumor-cells-and-biopsies-from-men-undergoing-treatment-for-metastatic-castration-resistant-prostate-cancer
#11
Jennifer Podolak, Kristi Eilers, Timothy Newby, Rachel Slottke, Erin Tucker, Susan B Olson, Hui-Wen Lue, Jack Youngren, Rahul Aggarwal, Eric J Small, Julie N Graff, Joshi J Alumkal, Tomasz M Beer, George V Thomas
Increased AR activity has been shown to be preserved in spatially distinct metastatic tumors from the same patient suggesting the requirement for lineage-specific dependencies for metastatic castration resistant prostate cancer (mCRPC). Amplification of the AR gene is a common mechanism by which mCRPC increase AR activity. To determine whether AR amplification in circulating tumor cells (CTC) could complement metastatic tissue biopsies in men undergoing treatment for mCRPC, we developed a novel two-step assay to isolate CTCs and subsequently analyzed AR amplification status in CTCs and matched biopsy tissue from the same patient by fluorescence in situ hybridization (FISH)...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29059683/association-analysis-identifies-65-new-breast-cancer-risk-loci
#12
Kyriaki Michailidou, Sara Lindström, Joe Dennis, Jonathan Beesley, Shirley Hui, Siddhartha Kar, Audrey Lemaçon, Penny Soucy, Dylan Glubb, Asha Rostamianfar, Manjeet K Bolla, Qin Wang, Jonathan Tyrer, Ed Dicks, Andrew Lee, Zhaoming Wang, Jamie Allen, Renske Keeman, Ursula Eilber, Juliet D French, Xiao Qing Chen, Laura Fachal, Karen McCue, Amy E McCart Reed, Maya Ghoussaini, Jason S Carroll, Xia Jiang, Hilary Finucane, Marcia Adams, Muriel A Adank, Habibul Ahsan, Kristiina Aittomäki, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Banu Arun, Paul L Auer, François Bacot, Myrto Barrdahl, Caroline Baynes, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Judith S Brand, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Louise Brinton, Per Broberg, Ian W Brock, Annegien Broeks, Angela Brooks-Wilson, Sara Y Brucker, Thomas Brüning, Barbara Burwinkel, Katja Butterbach, Qiuyin Cai, Hui Cai, Trinidad Caldés, Federico Canzian, Angel Carracedo, Brian D Carter, Jose E Castelao, Tsun L Chan, Ting-Yuan David Cheng, Kee Seng Chia, Ji-Yeob Choi, Hans Christiansen, Christine L Clarke, Margriet Collée, Don M Conroy, Emilie Cordina-Duverger, Sten Cornelissen, David G Cox, Angela Cox, Simon S Cross, Julie M Cunningham, Kamila Czene, Mary B Daly, Peter Devilee, Kimberly F Doheny, Thilo Dörk, Isabel Dos-Santos-Silva, Martine Dumont, Lorraine Durcan, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Carolina Ellberg, Mingajeva Elvira, Christoph Engel, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Valerie Gaborieau, Marike Gabrielson, Manuela Gago-Dominguez, Yu-Tang Gao, Susan M Gapstur, José A García-Sáenz, Mia M Gaudet, Vassilios Georgoulias, Graham G Giles, Gord Glendon, Mark S Goldberg, David E Goldgar, Anna González-Neira, Grethe I Grenaker Alnæs, Mervi Grip, Jacek Gronwald, Anne Grundy, Pascal Guénel, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Ute Hamann, Nathalie Hamel, Susan Hankinson, Patricia Harrington, Steven N Hart, Jaana M Hartikainen, Mikael Hartman, Alexander Hein, Jane Heyworth, Belynda Hicks, Peter Hillemanns, Dona N Ho, Antoinette Hollestelle, Maartje J Hooning, Robert N Hoover, John L Hopper, Ming-Feng Hou, Chia-Ni Hsiung, Guanmengqian Huang, Keith Humphreys, Junko Ishiguro, Hidemi Ito, Motoki Iwasaki, Hiroji Iwata, Anna Jakubowska, Wolfgang Janni, Esther M John, Nichola Johnson, Kristine Jones, Michael Jones, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Daehee Kang, Yoshio Kasuga, Michael J Kerin, Sofia Khan, Elza Khusnutdinova, Johanna I Kiiski, Sung-Won Kim, Julia A Knight, Veli-Matti Kosma, Vessela N Kristensen, Ute Krüger, Ava Kwong, Diether Lambrechts, Loic Le Marchand, Eunjung Lee, Min Hyuk Lee, Jong Won Lee, Chuen Neng Lee, Flavio Lejbkowicz, Jingmei Li, Jenna Lilyquist, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jirong Long, Artitaya Lophatananon, Jan Lubinski, Craig Luccarini, Michael P Lux, Edmond S K Ma, Robert J MacInnis, Tom Maishman, Enes Makalic, Kathleen E Malone, Ivana Maleva Kostovska, Arto Mannermaa, Siranoush Manoukian, JoAnn E Manson, Sara Margolin, Shivaani Mariapun, Maria Elena Martinez, Keitaro Matsuo, Dimitrios Mavroudis, James McKay, Catriona McLean, Hanne Meijers-Heijboer, Alfons Meindl, Primitiva Menéndez, Usha Menon, Jeffery Meyer, Hui Miao, Nicola Miller, Nur Aishah Mohd Taib, Kenneth Muir, Anna Marie Mulligan, Claire Mulot, Susan L Neuhausen, Heli Nevanlinna, Patrick Neven, Sune F Nielsen, Dong-Young Noh, Børge G Nordestgaard, Aaron Norman, Olufunmilayo I Olopade, Janet E Olson, Håkan Olsson, Curtis Olswold, Nick Orr, V Shane Pankratz, Sue K Park, Tjoung-Won Park-Simon, Rachel Lloyd, Jose I A Perez, Paolo Peterlongo, Julian Peto, Kelly-Anne Phillips, Mila Pinchev, Dijana Plaseska-Karanfilska, Ross Prentice, Nadege Presneau, Darya Prokofyeva, Elizabeth Pugh, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Gadi Rennert, Hedy S Rennert, Valerie Rhenius, Atocha Romero, Jane Romm, Kathryn J Ruddy, Thomas Rüdiger, Anja Rudolph, Matthias Ruebner, Emiel J T Rutgers, Emmanouil Saloustros, Dale P Sandler, Suleeporn Sangrajrang, Elinor J Sawyer, Daniel F Schmidt, Rita K Schmutzler, Andreas Schneeweiss, Minouk J Schoemaker, Fredrick Schumacher, Peter Schürmann, Rodney J Scott, Christopher Scott, Sheila Seal, Caroline Seynaeve, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Grace Sheng, Mark E Sherman, Martha J Shrubsole, Xiao-Ou Shu, Ann Smeets, Christof Sohn, Melissa C Southey, John J Spinelli, Christa Stegmaier, Sarah Stewart-Brown, Jennifer Stone, Daniel O Stram, Harald Surowy, Anthony Swerdlow, Rulla Tamimi, Jack A Taylor, Maria Tengström, Soo H Teo, Mary Beth Terry, Daniel C Tessier, Somchai Thanasitthichai, Kathrin Thöne, Rob A E M Tollenaar, Ian Tomlinson, Ling Tong, Diana Torres, Thérèse Truong, Chiu-Chen Tseng, Shoichiro Tsugane, Hans-Ulrich Ulmer, Giske Ursin, Michael Untch, Celine Vachon, Christi J van Asperen, David Van Den Berg, Ans M W van den Ouweland, Lizet van der Kolk, Rob B van der Luijt, Daniel Vincent, Jason Vollenweider, Quinten Waisfisz, Shan Wang-Gohrke, Clarice R Weinberg, Camilla Wendt, Alice S Whittemore, Hans Wildiers, Walter Willett, Robert Winqvist, Alicja Wolk, Anna H Wu, Lucy Xia, Taiki Yamaji, Xiaohong R Yang, Cheng Har Yip, Keun-Young Yoo, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Bin Zhu, Argyrios Ziogas, Elad Ziv, Sunil R Lakhani, Antonis C Antoniou, Arnaud Droit, Irene L Andrulis, Christopher I Amos, Fergus J Couch, Paul D P Pharoah, Jenny Chang-Claude, Per Hall, David J Hunter, Roger L Milne, Montserrat García-Closas, Marjanka K Schmidt, Stephen J Chanock, Alison M Dunning, Stacey L Edwards, Gary D Bader, Georgia Chenevix-Trench, Jacques Simard, Peter Kraft, Douglas F Easton
Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8 ...
November 2, 2017: Nature
https://www.readbyqxmd.com/read/29058716/identification-of-ten-variants-associated-with-risk-of-estrogen-receptor-negative-breast-cancer
#13
Roger L Milne, Karoline B Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, Siddhartha Kar, Sara Lindström, Shirley Hui, Audrey Lemaçon, Penny Soucy, Joe Dennis, Xia Jiang, Asha Rostamianfar, Hilary Finucane, Manjeet K Bolla, Lesley McGuffog, Qin Wang, Cora M Aalfs, Marcia Adams, Julian Adlard, Simona Agata, Shahana Ahmed, Habibul Ahsan, Kristiina Aittomäki, Fares Al-Ejeh, Jamie Allen, Christine B Ambrosone, Christopher I Amos, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Norbert Arnold, Kristan J Aronson, Bernd Auber, Paul L Auer, Margreet G E M Ausems, Jacopo Azzollini, François Bacot, Judith Balmaña, Monica Barile, Laure Barjhoux, Rosa B Barkardottir, Myrto Barrdahl, Daniel Barnes, Daniel Barrowdale, Caroline Baynes, Matthias W Beckmann, Javier Benitez, Marina Bermisheva, Leslie Bernstein, Yves-Jean Bignon, Kathleen R Blazer, Marinus J Blok, Carl Blomqvist, William Blot, Kristie Bobolis, Bram Boeckx, Natalia V Bogdanova, Anders Bojesen, Stig E Bojesen, Bernardo Bonanni, Anne-Lise Børresen-Dale, Aniko Bozsik, Angela R Bradbury, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Brigitte Bressac-de Paillerets, Carole Brewer, Louise Brinton, Per Broberg, Angela Brooks-Wilson, Joan Brunet, Thomas Brüning, Barbara Burwinkel, Saundra S Buys, Jinyoung Byun, Qiuyin Cai, Trinidad Caldés, Maria A Caligo, Ian Campbell, Federico Canzian, Olivier Caron, Angel Carracedo, Brian D Carter, J Esteban Castelao, Laurent Castera, Virginie Caux-Moncoutier, Salina B Chan, Jenny Chang-Claude, Stephen J Chanock, Xiaoqing Chen, Ting-Yuan David Cheng, Jocelyne Chiquette, Hans Christiansen, Kathleen B M Claes, Christine L Clarke, Thomas Conner, Don M Conroy, Jackie Cook, Emilie Cordina-Duverger, Sten Cornelissen, Isabelle Coupier, Angela Cox, David G Cox, Simon S Cross, Katarina Cuk, Julie M Cunningham, Kamila Czene, Mary B Daly, Francesca Damiola, Hatef Darabi, Rosemarie Davidson, Kim De Leeneer, Peter Devilee, Ed Dicks, Orland Diez, Yuan Chun Ding, Nina Ditsch, Kimberly F Doheny, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Isabel Dos-Santos-Silva, Stéphane Dubois, Pierre-Antoine Dugué, Martine Dumont, Alison M Dunning, Lorraine Durcan, Miriam Dwek, Bernd Dworniczak, Diana Eccles, Ros Eeles, Hans Ehrencrona, Ursula Eilber, Bent Ejlertsen, Arif B Ekici, A Heather Eliassen, Christoph Engel, Mikael Eriksson, Laura Fachal, Laurence Faivre, Peter A Fasching, Ulrike Faust, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, William D Foulkes, Eitan Friedman, Lin Fritschi, Debra Frost, Marike Gabrielson, Pragna Gaddam, Marilie D Gammon, Patricia A Ganz, Susan M Gapstur, Judy Garber, Vanesa Garcia-Barberan, José A García-Sáenz, Mia M Gaudet, Marion Gauthier-Villars, Andrea Gehrig, Vassilios Georgoulias, Anne-Marie Gerdes, Graham G Giles, Gord Glendon, Andrew K Godwin, Mark S Goldberg, David E Goldgar, Anna González-Neira, Paul Goodfellow, Mark H Greene, Grethe I Grenaker Alnæs, Mervi Grip, Jacek Gronwald, Anne Grundy, Daphne Gschwantler-Kaulich, Pascal Guénel, Qi Guo, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Emily Hallberg, Ute Hamann, Nathalie Hamel, Susan Hankinson, Thomas V O Hansen, Patricia Harrington, Steven N Hart, Jaana M Hartikainen, Catherine S Healey, Alexander Hein, Sonja Helbig, Alex Henderson, Jane Heyworth, Belynda Hicks, Peter Hillemanns, Shirley Hodgson, Frans B Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Bob Hoover, John L Hopper, Chunling Hu, Guanmengqian Huang, Peter J Hulick, Keith Humphreys, David J Hunter, Evgeny N Imyanitov, Claudine Isaacs, Motoki Iwasaki, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Wolfgang Janni, Uffe Birk Jensen, Esther M John, Nichola Johnson, Kristine Jones, Michael Jones, Arja Jukkola-Vuorinen, Rudolf Kaaks, Maria Kabisch, Katarzyna Kaczmarek, Daehee Kang, Karin Kast, Renske Keeman, Michael J Kerin, Carolien M Kets, Machteld Keupers, Sofia Khan, Elza Khusnutdinova, Johanna I Kiiski, Sung-Won Kim, Julia A Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela N Kristensen, Torben A Kruse, Ava Kwong, Anne-Vibeke Lænkholm, Yael Laitman, Fiona Lalloo, Diether Lambrechts, Keren Landsman, Christine Lasset, Conxi Lazaro, Loic Le Marchand, Julie Lecarpentier, Andrew Lee, Eunjung Lee, Jong Won Lee, Min Hyuk Lee, Flavio Lejbkowicz, Fabienne Lesueur, Jingmei Li, Jenna Lilyquist, Anne Lincoln, Annika Lindblom, Jolanta Lissowska, Wing-Yee Lo, Sibylle Loibl, Jirong Long, Jennifer T Loud, Jan Lubinski, Craig Luccarini, Michael Lush, Robert J MacInnis, Tom Maishman, Enes Makalic, Ivana Maleva Kostovska, Kathleen E Malone, Siranoush Manoukian, JoAnn E Manson, Sara Margolin, John W M Martens, Maria Elena Martinez, Keitaro Matsuo, Dimitrios Mavroudis, Sylvie Mazoyer, Catriona McLean, Hanne Meijers-Heijboer, Primitiva Menéndez, Jeffery Meyer, Hui Miao, Austin Miller, Nicola Miller, Gillian Mitchell, Marco Montagna, Kenneth Muir, Anna Marie Mulligan, Claire Mulot, Sue Nadesan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Ines Nevelsteen, Dieter Niederacher, Sune F Nielsen, Børge G Nordestgaard, Aaron Norman, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Janet E Olson, Curtis Olswold, Kai-Ren Ong, Jan C Oosterwijk, Nick Orr, Ana Osorio, V Shane Pankratz, Laura Papi, Tjoung-Won Park-Simon, Ylva Paulsson-Karlsson, Rachel Lloyd, Inge Søkilde Pedersen, Bernard Peissel, Ana Peixoto, Jose I A Perez, Paolo Peterlongo, Julian Peto, Georg Pfeiler, Catherine M Phelan, Mila Pinchev, Dijana Plaseska-Karanfilska, Bruce Poppe, Mary E Porteous, Ross Prentice, Nadege Presneau, Darya Prokofieva, Elizabeth Pugh, Miquel Angel Pujana, Katri Pylkäs, Brigitte Rack, Paolo Radice, Nazneen Rahman, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Hedy S Rennert, Valerie Rhenius, Kerstin Rhiem, Andrea Richardson, Gustavo C Rodriguez, Atocha Romero, Jane Romm, Matti A Rookus, Anja Rudolph, Thomas Ruediger, Emmanouil Saloustros, Joyce Sanders, Dale P Sandler, Suleeporn Sangrajrang, Elinor J Sawyer, Daniel F Schmidt, Minouk J Schoemaker, Fredrick Schumacher, Peter Schürmann, Lukas Schwentner, Christopher Scott, Rodney J Scott, Sheila Seal, Leigha Senter, Caroline Seynaeve, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xin Sheng, Hermela Shimelis, Martha J Shrubsole, Xiao-Ou Shu, Lucy E Side, Christian F Singer, Christof Sohn, Melissa C Southey, John J Spinelli, Amanda B Spurdle, Christa Stegmaier, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Harald Surowy, Christian Sutter, Anthony Swerdlow, Csilla I Szabo, Rulla M Tamimi, Yen Y Tan, Jack A Taylor, Maria-Isabel Tejada, Maria Tengström, Soo H Teo, Mary B Terry, Daniel C Tessier, Alex Teulé, Kathrin Thöne, Darcy L Thull, Maria Grazia Tibiletti, Laima Tihomirova, Marc Tischkowitz, Amanda E Toland, Rob A E M Tollenaar, Ian Tomlinson, Ling Tong, Diana Torres, Martine Tranchant, Thérèse Truong, Kathy Tucker, Nadine Tung, Jonathan Tyrer, Hans-Ulrich Ulmer, Celine Vachon, Christi J van Asperen, David Van Den Berg, Ans M W van den Ouweland, Elizabeth J van Rensburg, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Alessandra Viel, Joseph Vijai, Daniel Vincent, Jason Vollenweider, Lisa Walker, Zhaoming Wang, Shan Wang-Gohrke, Barbara Wappenschmidt, Clarice R Weinberg, Jeffrey N Weitzel, Camilla Wendt, Jelle Wesseling, Alice S Whittemore, Juul T Wijnen, Walter Willett, Robert Winqvist, Alicja Wolk, Anna H Wu, Lucy Xia, Xiaohong R Yang, Drakoulis Yannoukakos, Daniela Zaffaroni, Wei Zheng, Bin Zhu, Argyrios Ziogas, Elad Ziv, Kristin K Zorn, Manuela Gago-Dominguez, Arto Mannermaa, Håkan Olsson, Manuel R Teixeira, Jennifer Stone, Kenneth Offit, Laura Ottini, Sue K Park, Mads Thomassen, Per Hall, Alfons Meindl, Rita K Schmutzler, Arnaud Droit, Gary D Bader, Paul D P Pharoah, Fergus J Couch, Douglas F Easton, Peter Kraft, Georgia Chenevix-Trench, Montserrat García-Closas, Marjanka K Schmidt, Antonis C Antoniou, Jacques Simard
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies...
December 2017: Nature Genetics
https://www.readbyqxmd.com/read/28982760/znf281-enhances-cardiac-reprogramming-by-modulating-cardiac-and-inflammatory-gene-expression
#14
Huanyu Zhou, Maria Gabriela Morales, Hisayuki Hashimoto, Matthew E Dickson, Kunhua Song, Wenduo Ye, Min S Kim, Hanspeter Niederstrasser, Zhaoning Wang, Beibei Chen, Bruce A Posner, Rhonda Bassel-Duby, Eric N Olson
Direct reprogramming of fibroblasts to cardiomyocytes represents a potential means of restoring cardiac function following myocardial injury. AKT1 in the presence of four cardiogenic transcription factors, GATA4, HAND2, MEF2C, and TBX5 (AGHMT), efficiently induces the cardiac gene program in mouse embryonic fibroblasts but not adult fibroblasts. To identify additional regulators of adult cardiac reprogramming, we performed an unbiased screen of transcription factors and cytokines for those that might enhance or suppress the cardiogenic activity of AGHMT in adult mouse fibroblasts...
September 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28954811/preclinical-characterization-of-r-3-3-s-4-s-3-fluoro-4-4-hydroxyphenyl-piperidin-1-yl-1-4-methylbenzyl-pyrrolidin-2-one-bms-986169-a-novel-intravenous-glutamate-n-methyl-d-aspartate-2b-receptor-negative-allosteric-modulator-with-potential-in-major-depressive
#15
Linda J Bristow, Jyoti Gulia, Michael R Weed, Bettadapura N Srikumar, Yu-Wen Li, John D Graef, Pattipati S Naidu, Charulatha Sanmathi, Jayant Aher, Tanmaya Bastia, Mahesh Paschapur, Narasimharaju Kalidindi, Kuchibhotla Vijaya Kumar, Thaddeus Molski, Rick Pieschl, Alda Fernandes, Jeffrey M Brown, Digavalli V Sivarao, Kimberly Newberry, Mark Bookbinder, Joseph Polino, Deborah Keavy, Amy Newton, Eric Shields, Jean Simmermacher, James Kempson, Jianqing Li, Huiping Zhang, Arvind Mathur, Raja Reddy Kallem, Meenakshee Sinha, Manjunath Ramarao, Reeba K Vikramadithyan, Srinivasan Thangathirupathy, Jayakumar Warrier, Imadul Islam, Joanne J Bronson, Richard E Olson, John E Macor, Charlie F Albright, Dalton King, Lorin A Thompson, Lawrence R Marcin, Michael Sinz
( R )-3-((3S,4S)-3-fluoro-4-(4-hydroxyphenyl)piperidin-1-yl)-1-(4-methylbenzyl)pyrrolidin-2-one (BMS-986169) and the phosphate prodrug 4-((3 S ,4 S )-3-fluoro-1-((R)-1-(4-methylbenzyl)-2-oxopyrrolidin-3-yl)piperidin-4-yl)phenyl dihydrogen phosphate (BMS-986163) were identified from a drug discovery effort focused on the development of novel, intravenous glutamate N -methyl-d-aspartate 2B receptor (GluN2B) negative allosteric modulators (NAMs) for treatment-resistant depression (TRD). BMS-986169 showed high binding affinity for the GluN2B subunit allosteric modulatory site (Ki = 4...
December 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/28931764/functional-correction-of-dystrophin-actin-binding-domain-mutations-by-genome-editing
#16
Viktoriia Kyrychenko, Sergii Kyrychenko, Malte Tiburcy, John M Shelton, Chengzu Long, Jay W Schneider, Wolfram-Hubertus Zimmermann, Rhonda Bassel-Duby, Eric N Olson
Dystrophin maintains the integrity of striated muscles by linking the actin cytoskeleton with the cell membrane. Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD) that result in progressive, debilitating muscle weakness, cardiomyopathy, and a shortened lifespan. Mutations of dystrophin that disrupt the amino-terminal actin-binding domain 1 (ABD-1), encoded by exons 2-8, represent the second-most common cause of DMD. In the present study, we compared three different strategies for CRISPR/Cas9 genome editing to correct mutations in the ABD-1 region of the DMD gene by deleting exons 3-9, 6-9, or 7-11 in human induced pluripotent stem cells (iPSCs) and by assessing the function of iPSC-derived cardiomyocytes...
September 21, 2017: JCI Insight
https://www.readbyqxmd.com/read/28872460/deficiency-in-kelch-protein-klhl31-causes-congenital-myopathy-in-mice
#17
James B Papizan, Glynnis A Garry, Svetlana Brezprozvannaya, John R McAnally, Rhonda Bassel-Duby, Ning Liu, Eric N Olson
Maintenance of muscle structure and function depends on the precise organization of contractile proteins into sarcomeres and coupling of the contractile apparatus to the sarcoplasmic reticulum (SR), which serves as the reservoir for calcium required for contraction. Several members of the Kelch superfamily of proteins, which modulate protein stability as substrate-specific adaptors for ubiquitination, have been implicated in sarcomere formation. The Kelch protein Klhl31 is expressed in a muscle-specific manner under control of the transcription factor MEF2...
October 2, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28835449/fluorescence-quenching-by-metal-centered-porphyrins-and-poryphyrin-enzymes
#18
Kenneth R Olson, Yan Gao, Faihaan Arif, Kanika Arora, Shivali Patel, Eric DeLeon, Karl D Straub
Fluorescence spectroscopy and microscopy have been used extensively to monitor biomolecules, especially reactive oxygen species (ROS) and, more recently, reactive sulfide (RSS) species. Nearly all fluorophores are either excited by or emit light between 450 and 550 nm, which is similar to the absorbance of heme proteins and metal-centered porphyrins. Here we examined the effects of catalase (Cat), reduced and oxidized hemoglobin (Hb and metHb), albumin (alb), manganese (III) tetrakis (4-benzoic acid) porphyrin chloride (MnTBAP), iron protoporphyrin IX (hemin), and copper protoporphyrin IX (CuPPIX) on the fluorescence properties of fluorescein...
October 1, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28724790/med12-regulates-a-transcriptional-network-of-calcium-handling-genes-in-the-heart
#19
Kedryn K Baskin, Catherine A Makarewich, Susan M DeLeon, Wenduo Ye, Beibei Chen, Nadine Beetz, Heinrich Schrewe, Rhonda Bassel-Duby, Eric N Olson
The Mediator complex regulates gene transcription by linking basal transcriptional machinery with DNA-bound transcription factors. The activity of the Mediator complex is mainly controlled by a kinase submodule that is composed of 4 proteins, including MED12. Although ubiquitously expressed, Mediator subunits can differentially regulate gene expression in a tissue-specific manner. Here, we report that MED12 is required for normal cardiac function, such that mice with conditional cardiac-specific deletion of MED12 display progressive dilated cardiomyopathy...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28681861/a-defect-in-myoblast-fusion-underlies-carey-fineman-ziter-syndrome
#20
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F Rose, Nicole M Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D Webb, Caroline D Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R Ferreira, Tyler Hartman, Ian M Hayes, Tim Morgan, David M Markie, Michela Fagiolini, Amy Swift, Peter S Chines, Carlos E Speck-Martins, Francis S Collins, Ethylin Wang Jabs, Carsten G Bönnemann, Eric N Olson, John C Carey, Stephen P Robertson, Irini Manoli, Elizabeth C Engle
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. Here, we report that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM 254940) by reducing but not eliminating MYMK function. We characterize MYMK-CFZS as a congenital myopathy with marked facial weakness and additional clinical and pathologic features that distinguish it from other congenital neuromuscular syndromes...
July 6, 2017: Nature Communications
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