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Ian M. Evans

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https://www.readbyqxmd.com/read/28634329/long-days-enhance-recognition-memory-and-increase-insulin-like-growth-factor-2-in-the-hippocampus
#1
Adriano Dellapolla, Ian Kloehn, Harshida Pancholi, Ben Callif, David Wertz, Kayla E Rohr, Matthew M Hurley, Kimberly M Baker, Samer Hattar, Marieke R Gilmartin, Jennifer A Evans
Light improves cognitive function in humans; however, the neurobiological mechanisms underlying positive effects of light remain unclear. One obstacle is that most rodent models have employed lighting conditions that cause cognitive deficits rather than improvements. Here we have developed a mouse model where light improves cognitive function, which provides insight into mechanisms underlying positive effects of light. To increase light exposure without eliminating daily rhythms, we exposed mice to either a standard photoperiod or a long day photoperiod...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28625364/semi-quantitative-models-for-identifying-potent-and-selective-transthyretin-amyloidogenesis-inhibitors
#2
Stephen Connelly, David E Mortenson, Sungwook Choi, Ian A Wilson, Evan T Powers, Jeffery W Kelly, Steven M Johnson
Rate-limiting dissociation of the tetrameric protein transthyretin (TTR), followed by monomer misfolding and misassembly, appears to cause degenerative diseases in humans known as the transthyretin amyloidoses, based on human genetic, biochemical and pharmacologic evidence. Small molecules that bind to the generally unoccupied thyroxine binding pockets in the native TTR tetramer kinetically stabilize the tetramer, slowing subunit dissociation proportional to the extent that the molecules stabilize the native state over the dissociative transition state-thereby inhibiting amyloidogenesis...
May 26, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28622506/dynamic-rna-modifications-in-gene-expression-regulation
#3
REVIEW
Ian A Roundtree, Molly E Evans, Tao Pan, Chuan He
Over 100 types of chemical modifications have been identified in cellular RNAs. While the 5' cap modification and the poly(A) tail of eukaryotic mRNA play key roles in regulation, internal modifications are gaining attention for their roles in mRNA metabolism. The most abundant internal mRNA modification is N(6)-methyladenosine (m(6)A), and identification of proteins that install, recognize, and remove this and other marks have revealed roles for mRNA modification in nearly every aspect of the mRNA life cycle, as well as in various cellular, developmental, and disease processes...
June 15, 2017: Cell
https://www.readbyqxmd.com/read/28606988/recurrent-rhinovirus-infections-in-a-child-with-inherited-mda5-deficiency
#4
Ian T Lamborn, Huie Jing, Yu Zhang, Scott B Drutman, Jordan K Abbott, Shirin Munir, Sangeeta Bade, Heardley M Murdock, Celia P Santos, Linda G Brock, Evan Masutani, Emmanuel Y Fordjour, Joshua J McElwee, Jason D Hughes, Dave P Nichols, Aziz Belkadi, Andrew J Oler, Corinne S Happel, Helen F Matthews, Laurent Abel, Peter L Collins, Kanta Subbarao, Erwin W Gelfand, Michael J Ciancanelli, Jean-Laurent Casanova, Helen C Su
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5. Mutant MDA5 was expressed but did not recognize the synthetic MDA5 agonist/(ds)RNA mimic polyinosinic-polycytidylic acid. When overexpressed, mutant MDA5 failed to drive luciferase activity from the IFNB1 promoter or promoters containing ISRE or NF-κB sequence motifs...
June 12, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28541657/chemical-modulation-of-protein-o-glcnacylation-via-ogt-inhibition-promotes-human-neural-cell-differentiation
#5
Lissette M Andres, Ian W Blong, Angela C Evans, Neil G Rumachik, Teppei Yamaguchi, Nam D Pham, Pamela Thompson, Jennifer J Kohler, Carolyn R Bertozzi
The enzymes that determine protein O-GlcNAcylation, O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA), act on key transcriptional and epigenetic regulators, and both are abundantly expressed in the brain. However, little is known about how alterations in O-GlcNAc cycling affect human embryonic stem cell (hESC) neural differentiation. Here, we studied the effects of perturbing O-GlcNAcylation during neural induction of hESCs using the metabolic inhibitor of OGT, peracetylated 5-thio-N-acetylglucosamine (Ac4-5SGlcNAc)...
June 19, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28448241/prediction-of-breast-and-prostate-cancer-risks-in-male-brca1-and-brca2-mutation-carriers-using-polygenic-risk-scores
#6
Julie Lecarpentier, Valentina Silvestri, Karoline B Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Penny Soucy, Goska Leslie, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, Andrew Lee, Ali Amin Al Olama, Jonathan P Tyrer, Melissa Southey, Esther M John, Thomas A Conner, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Linda Steele, Yuan Chun Ding, Susan L Neuhausen, Thomas V O Hansen, Ana Osorio, Jeffrey N Weitzel, Angela Toss, Veronica Medici, Laura Cortesi, Ines Zanna, Domenico Palli, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Jacopo Azzollini, Alessandra Viel, Giulia Cini, Giuseppe Damante, Stefania Tommasi, Paolo Peterlongo, Florentia Fostira, Ute Hamann, D Gareth Evans, Alex Henderson, Carole Brewer, Diana Eccles, Jackie Cook, Kai-Ren Ong, Lisa Walker, Lucy E Side, Mary E Porteous, Rosemarie Davidson, Shirley Hodgson, Debra Frost, Julian Adlard, Louise Izatt, Ros Eeles, Steve Ellis, Marc Tischkowitz, Andrew K Godwin, Alfons Meindl, Andrea Gehrig, Bernd Dworniczak, Christian Sutter, Christoph Engel, Dieter Niederacher, Doris Steinemann, Eric Hahnen, Jan Hauke, Kerstin Rhiem, Karin Kast, Norbert Arnold, Nina Ditsch, Shan Wang-Gohrke, Barbara Wappenschmidt, Dorothea Wand, Christine Lasset, Dominique Stoppa-Lyonnet, Muriel Belotti, Francesca Damiola, Laure Barjhoux, Sylvie Mazoyer, Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, Kathleen B M Claes, Miguel de la Hoya, Vanesa Garcia-Barberan, Trinidad Caldes, Pedro Perez Segura, Johanna I Kiiski, Kristiina Aittomäki, Sofia Khan, Heli Nevanlinna, Christi J van Asperen, Tibor Vaszko, Miklos Kasler, Edith Olah, Judith Balmaña, Sara Gutiérrez-Enríquez, Orland Diez, Alex Teulé, Angel Izquierdo, Esther Darder, Joan Brunet, Jesús Del Valle, Lidia Feliubadalo, Miquel Angel Pujana, Conxi Lazaro, Adalgeir Arason, Bjarni A Agnarsson, Oskar Th Johannsson, Rosa B Barkardottir, Elisa Alducci, Silvia Tognazzo, Marco Montagna, Manuel R Teixeira, Pedro Pinto, Amanda B Spurdle, Helene Holland, Jong Won Lee, Min Hyuk Lee, Jihyoun Lee, Sung-Won Kim, Eunyoung Kang, Zisun Kim, Priyanka Sharma, Timothy R Rebbeck, Joseph Vijai, Mark Robson, Anne Lincoln, Jacob Musinsky, Pragna Gaddam, Yen Y Tan, Andreas Berger, Christian F Singer, Jennifer T Loud, Mark H Greene, Anna Marie Mulligan, Gord Glendon, Irene L Andrulis, Amanda Ewart Toland, Leigha Senter, Anders Bojesen, Henriette Roed Nielsen, Anne-Bine Skytte, Lone Sunde, Uffe Birk Jensen, Inge Sokilde Pedersen, Lotte Krogh, Torben A Kruse, Maria A Caligo, Sook-Yee Yoon, Soo-Hwang Teo, Anna von Wachenfeldt, Dezheng Huo, Sarah M Nielsen, Olufunmilayo I Olopade, Katherine L Nathanson, Susan M Domchek, Christa Lorenchick, Rachel C Jankowitz, Ian Campbell, Paul James, Gillian Mitchell, Nick Orr, Sue Kyung Park, Mads Thomassen, Kenneth Offit, Fergus J Couch, Jacques Simard, Douglas F Easton, Georgia Chenevix-Trench, Rita K Schmutzler, Antonis C Antoniou, Laura Ottini
Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray...
April 27, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#7
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28398847/traceback-a-proposed-framework-to-increase-identification-and-genetic-counseling-of-brca1-and-brca2-mutation-carriers-through-family-based-outreach
#8
Goli Samimi, Marcus Q Bernardini, Lawrence C Brody, Charlisse F Caga-Anan, Ian G Campbell, Georgia Chenevix-Trench, Fergus J Couch, Michael Dean, Joanne A de Hullu, Susan M Domchek, Ronny Drapkin, Heather Spencer Feigelson, Michael Friedlander, Mia M Gaudet, Marline G Harmsen, Karen Hurley, Paul A James, Janice S Kwon, Felicitas Lacbawan, Stephanie Lheureux, Phuong L Mai, Leah E Mechanic, Lori M Minasian, Evan R Myers, Mark E Robson, Susan J Ramus, Lisa F Rezende, Patricia A Shaw, Thomas P Slavin, Elizabeth M Swisher, Masataka Takenaka, David D Bowtell, Mark E Sherman
In May 2016, the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute, convened a workshop to discuss a conceptual framework for identifying and genetically testing previously diagnosed but unreferred patients with ovarian cancer and other unrecognized BRCA1 or BRCA2 mutation carriers to improve the detection of families at risk for breast or ovarian cancer. The concept, designated Traceback, was prompted by the recognition that although BRCA1 and BRCA2 mutations are frequent in women with ovarian cancer, many such women have not been tested, especially if their diagnosis predated changes in testing guidelines...
April 11, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28387702/patient-education-for-endoscopic-sinus-surgery-preliminary-experience-using-3d-printed-clinical-imaging-data
#9
Ian M Sander, Taimi T Liepert, Evan L Doney, W Matthew Leevy, Douglas R Liepert
Within the Ear, Nose, and Throat (ENT) medical space, a relatively small fraction of patients follow through with elective surgeries to fix ailments such as a deviated septum or occluded sinus passage. Patient understanding of their diagnosis and treatment plan is integral to compliance, which ultimately yields improved medical outcomes and better quality of life. Here we report the usage of advanced, polyjet 3D printing methods to develop a multimaterial replica of human nasal sinus anatomy, derived from clinical X-ray computed tomography (CT) data, to be used as an educational aid during physician consultation...
April 7, 2017: Journal of Functional Biomaterials
https://www.readbyqxmd.com/read/28360221/nfat5-and-slc4a10-loci-associate-with-plasma-osmolality
#10
Carsten A Böger, Mathias Gorski, Gearoid M McMahon, Huichun Xu, Yen-Pei C Chang, Peter J van der Most, Gerjan Navis, Ilja M Nolte, Martin H de Borst, Weihua Zhang, Benjamin Lehne, Marie Loh, Sian-Tsung Tan, Eric Boerwinkle, Morgan E Grams, Peggy Sekula, Man Li, Beth Wilmot, James G Moon, Paul Scheet, Francesco Cucca, Xiangjun Xiao, Leo-Pekka Lyytikäinen, Graciela Delgado, Tanja B Grammer, Marcus E Kleber, Sanaz Sedaghat, Fernando Rivadeneira, Tanguy Corre, Zoltan Kutalik, Sven Bergmann, Carrie M Nielson, Priya Srikanth, Alexander Teumer, Martina Müller-Nurasyid, Anne Catharina Brockhaus, Arne Pfeufer, Wolfgang Rathmann, Annette Peters, Martha Matsumoto, Mariza de Andrade, Elizabeth J Atkinson, Cassianne Robinson-Cohen, Ian H de Boer, Shih-Jen Hwang, Iris M Heid, Martin Gögele, Maria Pina Concas, Toshiko Tanaka, Stefania Bandinelli, Mike A Nalls, Andrew Singleton, Salman M Tajuddin, Adebowale Adeyemo, Jie Zhou, Ayo Doumatey, Shannon McWeeney, Joanne Murabito, Nora Franceschini, Michael Flessner, Michael Shlipak, James G Wilson, Guanjie Chen, Charles N Rotimi, Alan B Zonderman, Michele K Evans, Luigi Ferrucci, Olivier Devuyst, Mario Pirastu, Alan Shuldiner, Andrew A Hicks, Peter Paul Pramstaller, Bryan Kestenbaum, Sharon L R Kardia, Stephen T Turner, LifeLines Cohort Study, Tamara Ellefson Briske, Christian Gieger, Konstantin Strauch, Christa Meisinger, Thomas Meitinger, Uwe Völker, Matthias Nauck, Henry Völzke, Peter Vollenweider, Murielle Bochud, Gerard Waeber, Mika Kähönen, Terho Lehtimäki, Winfried März, Abbas Dehghan, Oscar H Franco, Andre G Uitterlinden, Albert Hofman, Herman A Taylor, John C Chambers, Jaspal S Kooner, Caroline S Fox, Robert Hitzemann, Eric S Orwoll, Cristian Pattaro, David Schlessinger, Anna Köttgen, Harold Snieder, Afshin Parsa, David M Cohen
Disorders of water balance, an excess or deficit of total body water relative to body electrolyte content, are common and ascertained by plasma hypo- or hypernatremia, respectively. We performed a two-stage genome-wide association study meta-analysis on plasma sodium concentration in 45,889 individuals of European descent (stage 1 discovery) and 17,637 additional individuals of European descent (stage 2 replication), and a transethnic meta-analysis of replicated single-nucleotide polymorphisms in 79,506 individuals (63,526 individuals of European descent, 8765 individuals of Asian Indian descent, and 7215 individuals of African descent)...
March 30, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28346442/identification-of-12-new-susceptibility-loci-for-different-histotypes-of-epithelial-ovarian-cancer
#11
Catherine M Phelan, Karoline B Kuchenbaecker, Jonathan P Tyrer, Siddhartha P Kar, Kate Lawrenson, Stacey J Winham, Joe Dennis, Ailith Pirie, Marjorie J Riggan, Ganna Chornokur, Madalene A Earp, Paulo C Lyra, Janet M Lee, Simon Coetzee, Jonathan Beesley, Lesley McGuffog, Penny Soucy, Ed Dicks, Andrew Lee, Daniel Barrowdale, Julie Lecarpentier, Goska Leslie, Cora M Aalfs, Katja K H Aben, Marcia Adams, Julian Adlard, Irene L Andrulis, Hoda Anton-Culver, Natalia Antonenkova, Gerasimos Aravantinos, Norbert Arnold, Banu K Arun, Brita Arver, Jacopo Azzollini, Judith Balmaña, Susana N Banerjee, Laure Barjhoux, Rosa B Barkardottir, Yukie Bean, Matthias W Beckmann, Alicia Beeghly-Fadiel, Javier Benitez, Marina Bermisheva, Marcus Q Bernardini, Michael J Birrer, Line Bjorge, Amanda Black, Kenneth Blankstein, Marinus J Blok, Clara Bodelon, Natalia Bogdanova, Anders Bojesen, Bernardo Bonanni, Åke Borg, Angela R Bradbury, James D Brenton, Carole Brewer, Louise Brinton, Per Broberg, Angela Brooks-Wilson, Fiona Bruinsma, Joan Brunet, Bruno Buecher, Ralf Butzow, Saundra S Buys, Trinidad Caldes, Maria A Caligo, Ian Campbell, Rikki Cannioto, Michael E Carney, Terence Cescon, Salina B Chan, Jenny Chang-Claude, Stephen Chanock, Xiao Qing Chen, Yoke-Eng Chiew, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, Thomas Conner, Linda S Cook, Jackie Cook, Daniel W Cramer, Julie M Cunningham, Aimee A D'Aloisio, Mary B Daly, Francesca Damiola, Sakaeva Dina Damirovna, Agnieszka Dansonka-Mieszkowska, Fanny Dao, Rosemarie Davidson, Anna DeFazio, Capucine Delnatte, Kimberly F Doheny, Orland Diez, Yuan Chun Ding, Jennifer Anne Doherty, Susan M Domchek, Cecilia M Dorfling, Thilo Dörk, Laure Dossus, Mercedes Duran, Matthias Dürst, Bernd Dworniczak, Diana Eccles, Todd Edwards, Ros Eeles, Ursula Eilber, Bent Ejlertsen, Arif B Ekici, Steve Ellis, Mingajeva Elvira, Kevin H Eng, Christoph Engel, D Gareth Evans, Peter A Fasching, Sarah Ferguson, Sandra Fert Ferrer, James M Flanagan, Zachary C Fogarty, Renée T Fortner, Florentia Fostira, William D Foulkes, George Fountzilas, Brooke L Fridley, Tara M Friebel, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, María J García, Vanesa Garcia-Barberan, Andrea Gehrig, Aleksandra Gentry-Maharaj, Anne-Marie Gerdes, Graham G Giles, Rosalind Glasspool, Gord Glendon, Andrew K Godwin, David E Goldgar, Teodora Goranova, Martin Gore, Mark H Greene, Jacek Gronwald, Stephen Gruber, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Ute Hamann, Thomas V O Hansen, Patricia A Harrington, Holly R Harris, Jan Hauke, Alexander Hein, Alex Henderson, Michelle A T Hildebrandt, Peter Hillemanns, Shirley Hodgson, Claus K Høgdall, Estrid Høgdall, Frans B L Hogervorst, Helene Holland, Maartje J Hooning, Karen Hosking, Ruea-Yea Huang, Peter J Hulick, Jillian Hung, David J Hunter, David G Huntsman, Tomasz Huzarski, Evgeny N Imyanitov, Claudine Isaacs, Edwin S Iversen, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Mats Jernetz, Allan Jensen, Uffe Birk Jensen, Esther M John, Sharon Johnatty, Michael E Jones, Päivi Kannisto, Beth Y Karlan, Anthony Karnezis, Karin Kast, Catherine J Kennedy, Elza Khusnutdinova, Lambertus A Kiemeney, Johanna I Kiiski, Sung-Won Kim, Susanne K Kjaer, Martin Köbel, Reidun K Kopperud, Torben A Kruse, Jolanta Kupryjanczyk, Ava Kwong, Yael Laitman, Diether Lambrechts, Nerea Larrañaga, Melissa C Larson, Conxi Lazaro, Nhu D Le, Loic Le Marchand, Jong Won Lee, Shashikant B Lele, Arto Leminen, Dominique Leroux, Jenny Lester, Fabienne Lesueur, Douglas A Levine, Dong Liang, Clemens Liebrich, Jenna Lilyquist, Loren Lipworth, Jolanta Lissowska, Karen H Lu, Jan Lubinński, Craig Luccarini, Lene Lundvall, Phuong L Mai, Gustavo Mendoza-Fandiño, Siranoush Manoukian, Leon F A G Massuger, Taymaa May, Sylvie Mazoyer, Jessica N McAlpine, Valerie McGuire, John R McLaughlin, Iain McNeish, Hanne Meijers-Heijboer, Alfons Meindl, Usha Menon, Arjen R Mensenkamp, Melissa A Merritt, Roger L Milne, Gillian Mitchell, Francesmary Modugno, Joanna Moes-Sosnowska, Melissa Moffitt, Marco Montagna, Kirsten B Moysich, Anna Marie Mulligan, Jacob Musinsky, Katherine L Nathanson, Lotte Nedergaard, Roberta B Ness, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kunle Odunsi, Edith Olah, Olufunmilayo I Olopade, Håkan Olsson, Curtis Olswold, David M O'Malley, Kai-Ren Ong, N Charlotte Onland-Moret, Nicholas Orr, Sandra Orsulic, Ana Osorio, Domenico Palli, Laura Papi, Tjoung-Won Park-Simon, James Paul, Celeste L Pearce, Inge Søkilde Pedersen, Petra H M Peeters, Bernard Peissel, Ana Peixoto, Tanja Pejovic, Liisa M Pelttari, Jennifer B Permuth, Paolo Peterlongo, Lidia Pezzani, Georg Pfeiler, Kelly-Anne Phillips, Marion Piedmonte, Malcolm C Pike, Anna M Piskorz, Samantha R Poblete, Timea Pocza, Elizabeth M Poole, Bruce Poppe, Mary E Porteous, Fabienne Prieur, Darya Prokofyeva, Elizabeth Pugh, Miquel Angel Pujana, Pascal Pujol, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Kerstin Rhiem, Patricia Rice, Andrea Richardson, Mark Robson, Gustavo C Rodriguez, Cristina Rodríguez-Antona, Jane Romm, Matti A Rookus, Mary Anne Rossing, Joseph H Rothstein, Anja Rudolph, Ingo B Runnebaum, Helga B Salvesen, Dale P Sandler, Minouk J Schoemaker, Leigha Senter, V Wendy Setiawan, Gianluca Severi, Priyanka Sharma, Tameka Shelford, Nadeem Siddiqui, Lucy E Side, Weiva Sieh, Christian F Singer, Hagay Sobol, Honglin Song, Melissa C Southey, Amanda B Spurdle, Zsofia Stadler, Doris Steinemann, Dominique Stoppa-Lyonnet, Lara E Sucheston-Campbell, Grzegorz Sukiennicki, Rebecca Sutphen, Christian Sutter, Anthony J Swerdlow, Csilla I Szabo, Lukasz Szafron, Yen Y Tan, Jack A Taylor, Muy-Kheng Tea, Manuel R Teixeira, Soo-Hwang Teo, Kathryn L Terry, Pamela J Thompson, Liv Cecilie Vestrheim Thomsen, Darcy L Thull, Laima Tihomirova, Anna V Tinker, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Alicia Tone, Britton Trabert, Ruth C Travis, Antonia Trichopoulou, Nadine Tung, Shelley S Tworoger, Anne M van Altena, David Van Den Berg, Annemarie H van der Hout, Rob B van der Luijt, Mattias Van Heetvelde, Els Van Nieuwenhuysen, Elizabeth J van Rensburg, Adriaan Vanderstichele, Raymonda Varon-Mateeva, Ana Vega, Digna Velez Edwards, Ignace Vergote, Robert A Vierkant, Joseph Vijai, Athanassios Vratimos, Lisa Walker, Christine Walsh, Dorothea Wand, Shan Wang-Gohrke, Barbara Wappenschmidt, Penelope M Webb, Clarice R Weinberg, Jeffrey N Weitzel, Nicolas Wentzensen, Alice S Whittemore, Juul T Wijnen, Lynne R Wilkens, Alicja Wolk, Michelle Woo, Xifeng Wu, Anna H Wu, Hannah Yang, Drakoulis Yannoukakos, Argyrios Ziogas, Kristin K Zorn, Steven A Narod, Douglas F Easton, Christopher I Amos, Joellen M Schildkraut, Susan J Ramus, Laura Ottini, Marc T Goodman, Sue K Park, Linda E Kelemen, Harvey A Risch, Mads Thomassen, Kenneth Offit, Jacques Simard, Rita Katharina Schmutzler, Dennis Hazelett, Alvaro N Monteiro, Fergus J Couch, Andrew Berchuck, Georgia Chenevix-Trench, Ellen L Goode, Thomas A Sellers, Simon A Gayther, Antonis C Antoniou, Paul D P Pharoah
To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptibility loci for different EOC histotypes: six for serous EOC histotypes (3q28, 4q32.3, 8q21.11, 10q24.33, 18q11.2 and 22q12.1), two for mucinous EOC (3q22.3 and 9q31.1) and one for endometrioid EOC (5q12.3). We then performed meta-analysis on the results for high-grade serous ovarian cancer with the results from analysis of 31,448 BRCA1 and BRCA2 mutation carriers, including 3,887 mutation carriers with EOC...
May 2017: Nature Genetics
https://www.readbyqxmd.com/read/28240969/evidence-of-stage-shift-in-women-diagnosed-with-ovarian-cancer-during-phase-ii-of-the-united-kingdom-familial-ovarian-cancer-screening-study
#12
Adam N Rosenthal, Lindsay S M Fraser, Susan Philpott, Ranjit Manchanda, Matthew Burnell, Philip Badman, Richard Hadwin, Ivana Rizzuto, Elizabeth Benjamin, Naveena Singh, D Gareth Evans, Diana M Eccles, Andy Ryan, Robert Liston, Anne Dawnay, Jeremy Ford, Richard Gunu, James Mackay, Steven J Skates, Usha Menon, Ian J Jacobs
Purpose To establish the performance of screening with serum cancer antigen 125 (CA-125), interpreted using the risk of ovarian cancer algorithm (ROCA), and transvaginal sonography (TVS) for women at high risk of ovarian cancer (OC) or fallopian tube cancer (FTC). Patients and Methods Women whose estimated lifetime risk of OC/FTC was ≥ 10% were recruited at 42 centers in the United Kingdom and underwent ROCA screening every 4 months. TVS occurred annually if ROCA results were normal or within 2 months of an abnormal ROCA result...
May 1, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28231405/three-dimensional-printing-of-x-ray-computed-tomography-datasets-with-multiple-materials-using-open-source-data-processing
#13
Ian M Sander, Matthew T McGoldrick, My N Helms, Aislinn Betts, Anthony van Avermaete, Elizabeth Owers, Evan Doney, Taimi Liepert, Glen Niebur, Douglas Liepert, W Matthew Leevy
Advances in three-dimensional (3D) printing allow for digital files to be turned into a "printed" physical product. For example, complex anatomical models derived from clinical or pre-clinical X-ray computed tomography (CT) data of patients or research specimens can be constructed using various printable materials. Although 3D printing has the potential to advance learning, many academic programs have been slow to adopt its use in the classroom despite increased availability of the equipment and digital databases already established for educational use...
February 23, 2017: Anatomical Sciences Education
https://www.readbyqxmd.com/read/28166213/genome-wide-association-analyses-for-lung-function-and-chronic-obstructive-pulmonary-disease-identify-new-loci-and-potential-druggable-targets
#14
Louise V Wain, Nick Shrine, María Soler Artigas, A Mesut Erzurumluoglu, Boris Noyvert, Lara Bossini-Castillo, Ma'en Obeidat, Amanda P Henry, Michael A Portelli, Robert J Hall, Charlotte K Billington, Tracy L Rimington, Anthony G Fenech, Catherine John, Tineka Blake, Victoria E Jackson, Richard J Allen, Bram P Prins, Archie Campbell, David J Porteous, Marjo-Riitta Jarvelin, Matthias Wielscher, Alan L James, Jennie Hui, Nicholas J Wareham, Jing Hua Zhao, James F Wilson, Peter K Joshi, Beate Stubbe, Rajesh Rawal, Holger Schulz, Medea Imboden, Nicole M Probst-Hensch, Stefan Karrasch, Christian Gieger, Ian J Deary, Sarah E Harris, Jonathan Marten, Igor Rudan, Stefan Enroth, Ulf Gyllensten, Shona M Kerr, Ozren Polasek, Mika Kähönen, Ida Surakka, Veronique Vitart, Caroline Hayward, Terho Lehtimäki, Olli T Raitakari, David M Evans, A John Henderson, Craig E Pennell, Carol A Wang, Peter D Sly, Emily S Wan, Robert Busch, Brian D Hobbs, Augusto A Litonjua, David W Sparrow, Amund Gulsvik, Per S Bakke, James D Crapo, Terri H Beaty, Nadia N Hansel, Rasika A Mathias, Ingo Ruczinski, Kathleen C Barnes, Yohan Bossé, Philippe Joubert, Maarten van den Berge, Corry-Anke Brandsma, Peter D Paré, Don D Sin, David C Nickle, Ke Hao, Omri Gottesman, Frederick E Dewey, Shannon E Bruse, David J Carey, H Lester Kirchner, Stefan Jonsson, Gudmar Thorleifsson, Ingileif Jonsdottir, Thorarinn Gislason, Kari Stefansson, Claudia Schurmann, Girish Nadkarni, Erwin P Bottinger, Ruth J F Loos, Robin G Walters, Zhengming Chen, Iona Y Millwood, Julien Vaucher, Om P Kurmi, Liming Li, Anna L Hansell, Chris Brightling, Eleftheria Zeggini, Michael H Cho, Edwin K Silverman, Ian Sayers, Gosia Trynka, Andrew P Morris, David P Strachan, Ian P Hall, Martin D Tobin
Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death globally. Through genome-wide association discovery in 48,943 individuals, selected from extremes of the lung function distribution in UK Biobank, and follow-up in 95,375 individuals, we increased the yield of independent signals for lung function from 54 to 97. A genetic risk score was associated with COPD susceptibility (odds ratio per 1 s.d. of the risk score (∼6 alleles) (95% confidence interval) = 1...
March 2017: Nature Genetics
https://www.readbyqxmd.com/read/28159590/pharmacogenetics-of-antidepressant-response-a-polygenic-approach
#15
Judit García-González, Katherine E Tansey, Joanna Hauser, Neven Henigsberg, Wolfgang Maier, Ole Mors, Anna Placentino, Marcella Rietschel, Daniel Souery, Tina Žagar, Piotr M Czerski, Borut Jerman, Henriette N Buttenschøn, Thomas G Schulze, Astrid Zobel, Anne Farmer, Katherine J Aitchison, Ian Craig, Peter McGuffin, Michel Giupponi, Nader Perroud, Guido Bondolfi, David Evans, Michael O'Donovan, Tim J Peters, Jens R Wendland, Glyn Lewis, Shitij Kapur, Roy Perlis, Volker Arolt, Katharina Domschke, Gerome Breen, Charles Curtis, Lee Sang-Hyuk, Carol Kan, Stephen Newhouse, Hamel Patel, Bernhard T Baune, Rudolf Uher, Cathryn M Lewis, Chiara Fabbri
BACKGROUND: Major depressive disorder (MDD) has a high personal and socio-economic burden and >60% of patients fail to achieve remission with the first antidepressant. The biological mechanisms behind antidepressant response are only partially known but genetic factors play a relevant role. A combined predictor across genetic variants may be useful to investigate this complex trait. METHODS: Polygenic risk scores (PRS) were used to estimate multi-allelic contribution to: 1) antidepressant efficacy; 2) its overlap with MDD and schizophrenia...
April 3, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28129334/a-novel-positron-emission-tomography-pet-approach-to-monitor-cardiac-metabolic-pathway-remodeling-in-response-to-sunitinib-malate
#16
Alice C O'Farrell, Rhys Evans, Johanna M U Silvola, Ian S Miller, Emer Conroy, Suzanne Hector, Maurice Cary, David W Murray, Monika A Jarzabek, Ashwini Maratha, Marina Alamanou, Girish Mallya Udupi, Liam Shiels, Celine Pallaud, Antti Saraste, Heidi Liljenbäck, Matti Jauhiainen, Vesa Oikonen, Axel Ducret, Paul Cutler, Fionnuala M McAuliffe, Jacques A Rousseau, Roger Lecomte, Suzanne Gascon, Zoltan Arany, Bonnie Ky, Thomas Force, Juhani Knuuti, William M Gallagher, Anne Roivainen, Annette T Byrne
Sunitinib is a tyrosine kinase inhibitor approved for the treatment of multiple solid tumors. However, cardiotoxicity is of increasing concern, with a need to develop rational mechanism driven approaches for the early detection of cardiac dysfunction. We sought to interrogate changes in cardiac energy substrate usage during sunitinib treatment, hypothesising that these changes could represent a strategy for the early detection of cardiotoxicity. Balb/CJ mice or Sprague-Dawley rats were treated orally for 4 weeks with 40 or 20 mg/kg/day sunitinib...
2017: PloS One
https://www.readbyqxmd.com/read/28095617/probing-forebrain-to-hindbrain-circuit-functions-in-xenopus
#17
REVIEW
Darcy B Kelley, Taffeta M Elliott, Ben J Evans, Ian C Hall, Elizabeth C Leininger, Heather J Rhodes, Ayako Yamaguchi, Erik Zornik
The vertebrate hindbrain includes neural circuits that govern essential functions including breathing, blood pressure and heart rate. Hindbrain circuits also participate in generating rhythmic motor patterns for vocalization. In most tetrapods, sound production is powered by expiration and the circuitry underlying vocalization and respiration must be linked. Perception and arousal are also linked; acoustic features of social communication sounds-for example, a baby's cry-can drive autonomic responses. The close links between autonomic functions that are essential for life and vocal expression have been a major in vivo experimental challenge...
January 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28077804/the-complex-genetics-of-gait-speed-genome-wide-meta-analysis-approach
#18
Dan Ben-Avraham, David Karasik, Joe Verghese, Kathryn L Lunetta, Jennifer A Smith, John D Eicher, Rotem Vered, Joris Deelen, Alice M Arnold, Aron S Buchman, Toshiko Tanaka, Jessica D Faul, Maria Nethander, Myriam Fornage, Hieab H Adams, Amy M Matteini, Michele L Callisaya, Albert V Smith, Lei Yu, Philip L De Jager, Denis A Evans, Vilmundur Gudnason, Albert Hofman, Alison Pattie, Janie Corley, Lenore J Launer, Davis S Knopman, Neeta Parimi, Stephen T Turner, Stefania Bandinelli, Marian Beekman, Danielle Gutman, Lital Sharvit, Simon P Mooijaart, David C Liewald, Jeanine J Houwing-Duistermaat, Claes Ohlsson, Matthijs Moed, Vincent J Verlinden, Dan Mellström, Jos N van der Geest, Magnus Karlsson, Dena Hernandez, Rebekah McWhirter, Yongmei Liu, Russell Thomson, Gregory J Tranah, Andre G Uitterlinden, David R Weir, Wei Zhao, John M Starr, Andrew D Johnson, M Arfan Ikram, David A Bennett, Steven R Cummings, Ian J Deary, Tamara B Harris, Sharon L R Kardia, Thomas H Mosley, Velandai K Srikanth, Beverly G Windham, Ann B Newman, Jeremy D Walston, Gail Davies, Daniel S Evans, Eline P Slagboom, Luigi Ferrucci, Douglas P Kiel, Joanne M Murabito, Gil Atzmon
Emerging evidence suggests that the basis for variation in late-life mobility is attributable, in part, to genetic factors, which may become increasingly important with age. Our objective was to systematically assess the contribution of genetic variation to gait speed in older individuals. We conducted a meta-analysis of gait speed GWASs in 31,478 older adults from 17 cohorts of the CHARGE consortium, and validated our results in 2,588 older adults from 4 independent studies. We followed our initial discoveries with network and eQTL analysis of candidate signals in tissues...
January 10, 2017: Aging
https://www.readbyqxmd.com/read/28039118/evolutionary-dynamics-of-tree-invasions-complementing-the-unified-framework-for-biological-invasions
#19
Rafael Dudeque Zenni, Ian A Dickie, Michael J Wingfield, Heidi Hirsch, Casparus J Crous, Laura A Meyerson, Treena I Burgess, Thalita G Zimmermann, Metha M Klock, Evan Siemann, Alexandra Erfmeier, Roxana Aragon, Lia Montti, Johannes J Le Roux
Evolutionary processes greatly impact the outcomes of biological invasions. An extensive body of research suggests that invasive populations often undergo phenotypic and ecological divergence from their native sources. Evolution also operates at different and distinct stages during the invasion process. Thus, it is important to incorporate evolutionary change into frameworks of biological invasions because it allows us to conceptualize how these processes may facilitate or hinder invasion success. Here, we review such processes, with an emphasis on tree invasions, and place them in the context of the unified framework for biological invasions...
December 30, 2016: AoB Plants
https://www.readbyqxmd.com/read/28017375/genome-wide-trans-ethnic-meta-analysis-identifies-seven-genetic-loci-influencing-erythrocyte-traits-and-a-role-for-rbpms-in-erythropoiesis
#20
Frank J A van Rooij, Rehan Qayyum, Albert V Smith, Yi Zhou, Stella Trompet, Toshiko Tanaka, Margaux F Keller, Li-Ching Chang, Helena Schmidt, Min-Lee Yang, Ming-Huei Chen, James Hayes, Andrew D Johnson, Lisa R Yanek, Christian Mueller, Leslie Lange, James S Floyd, Mohsen Ghanbari, Alan B Zonderman, J Wouter Jukema, Albert Hofman, Cornelia M van Duijn, Karl C Desch, Yasaman Saba, Ayse B Ozel, Beverly M Snively, Jer-Yuarn Wu, Reinhold Schmidt, Myriam Fornage, Robert J Klein, Caroline S Fox, Koichi Matsuda, Naoyuki Kamatani, Philipp S Wild, David J Stott, Ian Ford, P Eline Slagboom, Jaden Yang, Audrey Y Chu, Amy J Lambert, André G Uitterlinden, Oscar H Franco, Edith Hofer, David Ginsburg, Bella Hu, Brendan Keating, Ursula M Schick, Jennifer A Brody, Jun Z Li, Zhao Chen, Tanja Zeller, Jack M Guralnik, Daniel I Chasman, Luanne L Peters, Michiaki Kubo, Diane M Becker, Jin Li, Gudny Eiriksdottir, Jerome I Rotter, Daniel Levy, Vera Grossmann, Kushang V Patel, Chien-Hsiun Chen, Paul M Ridker, Hua Tang, Lenore J Launer, Kenneth M Rice, Ruifang Li-Gao, Luigi Ferrucci, Michelle K Evans, Avik Choudhuri, Eirini Trompouki, Brian J Abraham, Song Yang, Atsushi Takahashi, Yoichiro Kamatani, Charles Kooperberg, Tamara B Harris, Sun Ha Jee, Josef Coresh, Fuu-Jen Tsai, Dan L Longo, Yuan-Tsong Chen, Janine F Felix, Qiong Yang, Bruce M Psaty, Eric Boerwinkle, Lewis C Becker, Dennis O Mook-Kanamori, James G Wilson, Vilmundur Gudnason, Christopher J O'Donnell, Abbas Dehghan, L Adrienne Cupples, Michael A Nalls, Andrew P Morris, Yukinori Okada, Alexander P Reiner, Leonard I Zon, Santhi K Ganesh
Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume...
January 5, 2017: American Journal of Human Genetics
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