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• keyword#1
Christopher Thompson, Kelly Wilson, Yoen Joo Kim, Min Xie, William K Wang, Michaela Wendeler
Stainless steel containers are widely used in the pharmaceutical and biopharmaceutical industry for the storage of buffers, process intermediates, and purified drug substance. They are generally held to be corrosion resistant, biocompatible, and non-reactive, although it is well established that trace amounts of metal ions can leach from stainless steel equipment into biopharmaceutical products. We report here that the use of stainless steel containers in conjunction with magnetic stirring bars leads to significantly aggravated metal contamination, consisting both of metal particles and significantly elevated metal ions in solution, the degree of which is several orders of magnitude higher than described for static conditions...
July 19, 2017: Journal of Pharmaceutical Sciences
#2
John N Thompson, Christopher Schwind, Magne Friberg
Closely related species often have similar traits and sometimes interact with the same species. A crucial problem in evolutionary ecology is therefore to understand how coevolving species diverge when they interact with a set of closely related species from another lineage rather than with a single species. We evaluated geographic differences in the floral morphology of all woodland star plant species (Lithophragma, Saxifragaceae) that are pollinated by Greya (Prodoxidae) moths. Flowers of each woodland star species differed depending on whether plants interact locally with one, two, or no pollinating moth species...
August 2017: American Naturalist
#3
Lionel X Dupuy, Gladys Wright, Jacqueline A Thompson, Anna Taylor, Sebastien Dekeyser, Christopher P White, William T B Thomas, Mark Nightingale, John P Hammond, Neil S Graham, Catherine L Thomas, Martin R Broadley, Philip J White
BACKGROUND: There are numerous systems and techniques to measure the growth of plant roots. However, phenotyping large numbers of plant roots for breeding and genetic analyses remains challenging. One major difficulty is to achieve high throughput and resolution at a reasonable cost per plant sample. Here we describe a cost-effective root phenotyping pipeline, on which we perform time and accuracy benchmarking to identify bottlenecks in such pipelines and strategies for their acceleration...
2017: Plant Methods
#4
Evžen Machytka, Marek Bužga, Pavel Zonca, David B Lautz, Marvin Ryou, Donald C Simonson, Christopher C Thompson
BACKGROUND AND AIMS: The majority of patients with type 2 diabetes mellitus (T2DM) have obesity. Studies show that bariatric surgery is superior to medical treatment for remission of T2DM. Nevertheless, very few patients undergo surgery, and a less-invasive endoscopic alternative is desirable. METHODS: This was a single-arm first-in-human pilot study, designed to evaluate the technical feasibility, safety, and clinical performance of the incisionless magnetic anastomosis system (IMAS) in creation of a partial jejunal diversion (PJD)...
July 14, 2017: Gastrointestinal Endoscopy
#5
Karen K Klyczek, J Alfred Bonilla, Deborah Jacobs-Sera, Tamarah L Adair, Patricia Afram, Katherine G Allen, Megan L Archambault, Rahat M Aziz, Filippa G Bagnasco, Sarah L Ball, Natalie A Barrett, Robert C Benjamin, Christopher J Blasi, Katherine Borst, Mary A Braun, Haley Broomell, Conner B Brown, Zachary S Brynell, Ashley B Bue, Sydney O Burke, William Casazza, Julia A Cautela, Kevin Chen, Nitish S Chimalakonda, Dylan Chudoff, Jade A Connor, Trevor S Cross, Kyra N Curtis, Jessica A Dahlke, Bethany M Deaton, Sarah J Degroote, Danielle M DeNigris, Katherine C DeRuff, Milan Dolan, David Dunbar, Marisa S Egan, Daniel R Evans, Abby K Fahnestock, Amal Farooq, Garrett Finn, Christopher R Fratus, Bobby L Gaffney, Rebecca A Garlena, Kelly E Garrigan, Bryan C Gibbon, Michael A Goedde, Carlos A Guerrero Bustamante, Melinda Harrison, Megan C Hartwell, Emily L Heckman, Jennifer Huang, Lee E Hughes, Kathryn M Hyduchak, Aswathi E Jacob, Machika Kaku, Allen W Karstens, Margaret A Kenna, Susheel Khetarpal, Rodney A King, Amanda L Kobokovich, Hannah Kolev, Sai A Konde, Elizabeth Kriese, Morgan E Lamey, Carter N Lantz, Jonathan S Lapin, Temiloluwa O Lawson, In Young Lee, Scott M Lee, Julia Y Lee-Soety, Emily M Lehmann, Shawn C London, A Javier Lopez, Kelly C Lynch, Catherine M Mageeney, Tetyana Martynyuk, Kevin J Mathew, Travis N Mavrich, Christopher M McDaniel, Hannah McDonald, C Joel McManus, Jessica E Medrano, Francis E Mele, Jennifer E Menninger, Sierra N Miller, Josephine E Minick, Courtney T Nabua, Caroline K Napoli, Martha Nkangabwa, Elizabeth A Oates, Cassandra T Ott, Sarah K Pellerino, William J Pinamont, Ross T Pirnie, Marie C Pizzorno, Emilee J Plautz, Welkin H Pope, Katelyn M Pruett, Gabbi Rickstrew, Patrick A Rimple, Claire A Rinehart, Kayla M Robinson, Victoria A Rose, Daniel A Russell, Amelia M Schick, Julia Schlossman, Victoria M Schneider, Chloe A Sells, Jeremy W Sieker, Morgan P Silva, Marissa M Silvi, Stephanie E Simon, Amanda K Staples, Isabelle L Steed, Emily L Stowe, Noah A Stueven, Porter T Swartz, Emma A Sweet, Abigail T Sweetman, Corrina Tender, Katrina Terry, Chrystal Thomas, Daniel S Thomas, Allison R Thompson, Lorianna Vanderveen, Rohan Varma, Hannah L Vaught, Quynh D Vo, Zachary T Vonberg, Vassie C Ware, Yasmene M Warrad, Kaitlyn E Wathen, Jonathan L Weinstein, Jacqueline F Wyper, Jakob R Yankauskas, Christine Zhang, Graham F Hatfull
The vast bacteriophage population harbors an immense reservoir of genetic information. Almost 2000 phage genomes have been sequenced from phages infecting hosts in the phylum Actinobacteria, and analysis of these genomes reveals substantial diversity, pervasive mosaicism, and novel mechanisms for phage replication and lysogeny. Here, we describe the isolation and genomic characterization of 46 phages from environmental samples at various geographic locations in the U.S. infecting a single Arthrobacter sp. strain...
2017: PloS One
#6
Carl D Langefeld, Hannah C Ainsworth, Deborah S Cunninghame Graham, Jennifer A Kelly, Mary E Comeau, Miranda C Marion, Timothy D Howard, Paula S Ramos, Jennifer A Croker, David L Morris, Johanna K Sandling, Jonas Carlsson Almlöf, Eduardo M Acevedo-Vásquez, Graciela S Alarcón, Alejandra M Babini, Vicente Baca, Anders A Bengtsson, Guillermo A Berbotto, Marc Bijl, Elizabeth E Brown, Hermine I Brunner, Mario H Cardiel, Luis Catoggio, Ricard Cervera, Jorge M Cucho-Venegas, Solbritt Rantapää Dahlqvist, Sandra D'Alfonso, Berta Martins Da Silva, Iñigo de la Rúa Figueroa, Andrea Doria, Jeffrey C Edberg, Emőke Endreffy, Jorge A Esquivel-Valerio, Paul R Fortin, Barry I Freedman, Johan Frostegård, Mercedes A García, Ignacio García de la Torre, Gary S Gilkeson, Dafna D Gladman, Iva Gunnarsson, Joel M Guthridge, Jennifer L Huggins, Judith A James, Cees G M Kallenberg, Diane L Kamen, David R Karp, Kenneth M Kaufman, Leah C Kottyan, László Kovács, Helle Laustrup, Bernard R Lauwerys, Quan-Zhen Li, Marco A Maradiaga-Ceceña, Javier Martín, Joseph M McCune, David R McWilliams, Joan T Merrill, Pedro Miranda, José F Moctezuma, Swapan K Nath, Timothy B Niewold, Lorena Orozco, Norberto Ortego-Centeno, Michelle Petri, Christian A Pineau, Bernardo A Pons-Estel, Janet Pope, Prithvi Raj, Rosalind Ramsey-Goldman, John D Reveille, Laurie P Russell, José M Sabio, Carlos A Aguilar-Salinas, Hugo R Scherbarth, Raffaella Scorza, Michael F Seldin, Christopher Sjöwall, Elisabet Svenungsson, Susan D Thompson, Sergio M A Toloza, Lennart Truedsson, Teresa Tusié-Luna, Carlos Vasconcelos, Luis M Vilá, Daniel J Wallace, Michael H Weisman, Joan E Wither, Tushar Bhangale, Jorge R Oksenberg, John D Rioux, Peter K Gregersen, Ann-Christine Syvänen, Lars Rönnblom, Lindsey A Criswell, Chaim O Jacob, Kathy L Sivils, Betty P Tsao, Laura E Schanberg, Timothy W Behrens, Earl D Silverman, Marta E Alarcón-Riquelme, Robert P Kimberly, John B Harley, Edward K Wakeland, Robert R Graham, Patrick M Gaffney, Timothy J Vyse
Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P<5 × 10(-8)), refined association signals in established regions, extended associations to additional ancestries, and a disentangled complex HLA multigenic effect...
July 17, 2017: Nature Communications
#7
Ray Unwalla, James J Mousseau, Olugbeminiyi O Fadeyi, Chulho Choi, Kevin Parris, Baihua Hu, Thomas Kenney, Susan Chippari, Christopher McNally, Karthick Vishwanathan, Edward Kilbourne, Catherine Thompson, Sunil Nagpal, Jay Wrobel, Matthew Yudt, Carl A Morris, Dennis Powell, Adam M Gilbert, Eugene L Piatnitski Chekler
In an effort to find new and safer treatments for osteoporosis and frailty, we describe a novel series of selective androgen receptor modulators (SARMs). Using a structure-based approach, we identified compound 7, a potent AR (ARE EC50 = 0.34 nM) and selective (N/C interaction EC50 = 1206 nM) modulator. In vivo data, an AR LBD X-ray structure of 7, and further insights from modeling studies of ligand receptor interactions are also presented.
July 11, 2017: Journal of Medicinal Chemistry
#8
James K Whittaker, Lisa Holmes, Jorge F Del Valle, Frank Ainsworth, Tore Andreassen, James Anglin, Christopher Bellonci, David Berridge, Amaia Bravo, Cinzia Canali, Mark Courtney, Laurah Currey, Daniel Daly, Robbie Gilligan, Hans Grietens, Annemiek Harder, Martha Holden, Sigrid James, Andrew Kendrick, Erick Knorth, Mette Lausten, John Lyons, Eduardo Martin, Samantha McDermid, Patricia McNamara, Laura Palareti, Susan Ramsey, Kari Sisson, Richard Small, June Thoburn, Ronald Thompson, Anat Zeira
Therapeutic Residential Care for Children and Youth: A Consensus Statement of the International Work Group on Therapeutic Residential Care. In many developed countries around the world residential care interventions for children and adolescents have come under increasing scrutiny. Against this background an international summit was organised in England (spring 2016) with experts from 13 countries to reflect on therapeutic residential care (TRC). The following working definition of TRC was leading: “Therapeutic residential care involves the planful use of a purposefully constructed, multi-dimensional living environment designed to enhance or provide treatment, education, socialization, support, and protection to children and youth with identified mental health or behavioral needs in partnership with their families and in collaboration with a full spectrum of community based formal and informal helping resources”...
August 2017: Psicothema
#9
Melanie K Laird, Jessica R Dargan, Lillian Paterson, Christopher R Murphy, Bronwyn M McAllan, Geoff Shaw, Marilyn B Renfree, Michael B Thompson
Pregnancy in mammals requires remodelling of the uterus to become receptive to the implanting embryo. Remarkably similar morphological changes to the uterine epithelium occur in both eutherian and marsupial mammals, irrespective of placental type. Nevertheless, molecular differences in uterine remodelling indicate that the marsupial uterus employs maternal defences, including molecular reinforcement of the uterine epithelium, to regulate embryonic invasion. Non-invasive (epitheliochorial) embryonic attachment in marsupials likely evolved secondarily from invasive attachment, so uterine defences in these species may prevent embryonic invasion...
July 8, 2017: Molecular Reproduction and Development
#10
Karl Herholz, Cathleen Haense, Alex Gerhard, Matthew Jones, José Anton-Rodriguez, Shailendra Segobin, Julie S Snowden, Jennifer C Thompson, Christopher Kobylecki
Clinical variants of Alzheimer's disease (AD) include the common amnestic subtype as well as subtypes characterised by leading visual processing impairments or by multimodal neurocognitive deficits. We investigated regional metabolic patterns and networks between AD subtypes. The study comprised 9 age-matched controls and 25 patients with mild to moderate AD. Methods included clinical and neuropsychological assessment, high-resolution FDG PET and T1-weighted 3D MR imaging with PET-MR coregistration, grey matter segmentation, atlas-based regions-of-interest, linear mixed effects and regional correlation analysis...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
#11
Jessica S Dudley, Christopher R Murphy, Michael B Thompson, Bronwyn M McAllan
The uterine luminal epithelium is the first site of contact between fetal and maternal tissues during therian pregnancy and must undergo specialised changes for implantation of the blastocyst to be successful. These changes, collectively termed the plasma membrane transformation (PMT), allow the blastocyst to attach to the uterine epithelium preceding the formation of a placenta. There are similarities in the morphological and molecular changes occurring in live-bearing eutherian species during the PMT studied so far...
July 3, 2017: Journal of Anatomy
#12
Wilson Leung, Christopher D Shaffer, Elizabeth J Chen, Thomas J Quisenberry, Kevin Ko, John M Braverman, Thomas C Giarla, Nathan T Mortimer, Laura K Reed, Sheryl T Smith, Srebrenka Robic, Shannon R McCartha, Danielle R Perry, Lindsay M Prescod, Zenyth A Sheppard, Ken J Saville, Allison McClish, Emily A Morlock, Victoria R Sochor, Brittney Stanton, Isaac C Veysey-White, Dennis Revie, Luis A Jimenez, Jennifer J Palomino, Melissa D Patao, Shane M Patao, Edward T Himelblau, Jaclyn D Campbell, Alexandra L Hertz, Maddison F McEvilly, Allison R Wagner, James Youngblom, Baljit Bedi, Jeffery Bettincourt, Erin Duso, Maiye Her, William Hilton, Samantha House, Masud Karimi, Kevin Kumimoto, Rebekah Lee, Darryl Lopez, George Odisho, Ricky Prasad, Holly Lyn Robbins, Tanveer Sandhu, Tracy Selfridge, Kara Tsukashima, Hani Yosif, Nighat P Kokan, Latia Britt, Alycia Zoellner, Eric P Spana, Ben T Chlebina, Insun Chong, Harrison Friedman, Danny A Mammo, Chun L Ng, Vinayak S Nikam, Nicholas U Schwartz, Thomas Q Xu, Martin G Burg, Spencer M Batten, Lindsay M Corbeill, Erica Enoch, Jesse J Ensign, Mary E Franks, Breanna Haiker, Judith A Ingles, Lyndsay D Kirkland, Joshua M Lorenz-Guertin, Jordan Matthews, Cody M Mittig, Nicholaus Monsma, Katherine J Olson, Guillermo Perez-Aragon, Alen Ramic, Jordan R Ramirez, Christopher Scheiber, Patrick A Schneider, Devon E Schultz, Matthew Simon, Eric Spencer, Adam C Wernette, Maxine E Wykle, Elizabeth Zavala-Arellano, Mitchell J McDonald, Kristine Ostby, Peter Wendland, Justin R DiAngelo, Alexis M Ceasrine, Amanda H Cox, James E B Docherty, Robert M Gingras, Stephanie M Grieb, Michael J Pavia, Casey L Personius, Grzegorz L Polak, Dale L Beach, Heaven L Cerritos, Edward A Horansky, Karim A Sharif, Ryan Moran, Susan Parrish, Kirsten Bickford, Jennifer Bland, Juliana Broussard, Kerry Campbell, Katelynn E Deibel, Richard Forka, Monika C Lemke, Marlee B Nelson, Catherine O'Keeffe, S Mariel Ramey, Luke Schmidt, Paola Villegas, Christopher J Jones, Stephanie L Christ, Sami Mamari, Adam S Rinaldi, Ghazal Stity, Amy T Hark, Mark Scheuerman, Cathy Silver Key, Briana D McRae, Adam S Haberman, Sam Asinof, Harriette Carrington, Kelly Drumm, Terrance Embry, Richard McGuire, Drew Miller-Foreman, Stella Rosen, Nadia Safa, Darrin Schultz, Matt Segal, Yakov Shevin, Petros Svoronos, Tam Vuong, Gary Skuse, Don W Paetkau, Rachael K Bridgman, Charlotte M Brown, Alicia R Carroll, Francesca M Gifford, Julie Beth Gillespie, Susan E Herman, Krystal L Holtcamp, Misha A Host, Gabrielle Hussey, Danielle M Kramer, Joan Q Lawrence, Madeline M Martin, Ellen N Niemiec, Ashleigh P O'Reilly, Olivia A Pahl, Guadalupe Quintana, Elizabeth A S Rettie, Torie L Richardson, Arianne E Rodriguez, Mona O Rodriguez, Laura Schiraldi, Joanna J Smith, Kelsey F Sugrue, Lindsey J Suriano, Kaitlyn E Takach, Arielle M Vasquez, Ximena Velez, Elizabeth J Villafuerte, Laura T Vives, Victoria R Zellmer, Jeanette Hauke, Charles R Hauser, Karolyn Barker, Laurie Cannon, Perouza Parsamian, Samantha Parsons, Zachariah Wichman, Christopher W Bazinet, Diana E Johnson, Abubakarr Bangura, Jordan A Black, Victoria Chevee, Sarah A Einsteen, Sarah K Hilton, Max Kollmer, Rahul Nadendla, Joyce Stamm, Antoinette E Fafara-Thompson, Amber M Gygi, Emmy E Ogawa, Matt Van Camp, Zuzana Kocsisova, Judith L Leatherman, Cassie M Modahl, Michael R Rubin, Susana S Apiz-Saab, Suzette M Arias-Mejias, Carlos F Carrion-Ortiz, Patricia N Claudio-Vazquez, Debbie M Espada-Green, Marium Feliciano-Camacho, Karina M Gonzalez-Bonilla, Mariela Taboas-Arroyo, Dorianmarie Vargas-Franco, Raquel Montañez-Gonzalez, Joseph Perez-Otero, Myrielis Rivera-Burgos, Francisco J Rivera-Rosario, Heather L Eisler, Jackie Alexander, Samatha K Begley, Deana Gabbard, Robert J Allen, Wint Yan Aung, William D Barshop, Amanda Boozalis, Vanessa P Chu, Jeremy S Davis, Ryan N Duggal, Robert Franklin, Katherine Gavinski, Heran Gebreyesus, Henry Z Gong, Rachel A Greenstein, Averill D Guo, Casey Hanson, Kaitlin E Homa, Simon C Hsu, Yi Huang, Lucy Huo, Sarah Jacobs, Sasha Jia, Kyle L Jung, Sarah Wai-Chee Kong, Matthew R Kroll, Brandon M Lee, Paul F Lee, Kevin M Levine, Amy S Li, Chengyu Liu, Max Mian Liu, Adam P Lousararian, Peter B Lowery, Allyson P Mallya, Joseph E Marcus, Patrick C Ng, Hien P Nguyen, Ruchik Patel, Hashini Precht, Suchita Rastogi, Jonathan M Sarezky, Adam Schefkind, Michael B Schultz, Delia Shen, Tara Skorupa, Nicholas C Spies, Gabriel Stancu, Hiu Man Vivian Tsang, Alice L Turski, Rohit Venkat, Leah E Waldman, Kaidi Wang, Tracy Wang, Jeffrey W Wei, Dennis Y Wu, David D Xiong, Jack Yu, Karen Zhou, Gerard P McNeil, Robert W Fernandez, Patrick Gomez Menzies, Tingting Gu, Jeremy Buhler, Elaine R Mardis, Sarah C R Elgin
The discordance between genome size and the complexity of eukaryotes can partly be attributed to differences in repeat density. The Muller F element (~5.2 Mb) is the smallest chromosome in Drosophila melanogaster, but it is substantially larger (>18.7 Mb) in Drosophila ananassae To identify the major contributors to the expansion of the F element and to assess their impact, we improved the genome sequence and annotated the genes in a 1.4 Mb region of the D. ananassae F element, and a 1.7 Mb region from the D element for comparison...
June 30, 2017: G3: Genes—Genomes—Genetics
#13
Laura J Esserman, Christina Yau, Carlie K Thompson, Laura J van 't Veer, Alexander D Borowsky, Katherine A Hoadley, Nicholas P Tobin, Bo Nordenskjöld, Tommy Fornander, Olle Stål, Christopher C Benz, Linda S Lindström
Importance: The frequency of cancers with indolent behavior has increased with screening. Better tools to identify indolent tumors are needed to avoid overtreatment. Objective: To determine if a multigene classifier is associated with indolent behavior of invasive breast cancers in women followed for 2 decades. Design, Setting, and Participants: This is a secondary analysis of a randomized clinical trial of tamoxifen vs no systemic therapy, with more than 20-year follow-up...
June 29, 2017: JAMA Oncology
#14
Laurent Billot, Balasubramanian Venkatesh, John Myburgh, Simon Finfer, Jeremy Cohen, Steve Webb, Colin McArthur, Christopher Joyce, Rinaldo Bellomo, Andrew Rhodes, Anders Perner, Yaseen Arabi, Dorrilyn Rajbhandari, Parisa Glass, Kelly Thompson, Maryam Correa, Meg Harward
BACKGROUND: The Adjunctive Corticosteroid Treatment in Critically Ill Patients with Septic Shock (ADRENAL) trial, a 3800-patient, multicentre, randomised controlled trial, will be the largest study to date of corticosteroid therapy in patients with septic shock. OBJECTIVE: To describe a statistical analysis plan (SAP) and make it public before completion of patient recruitment and data collection. The SAP will be adhered to for the final data analysis of this trial, to avoid analysis bias arising from knowledge of study findings...
June 2017: Critical Care and Resuscitation: Journal of the Australasian Academy of Critical Care Medicine
#15
Siyam M Ansar, Benjamin D Fellows, Patrick Mispireta, O Thompson Mefford, Christopher L Kitchens
Thiolated poly(acrylic acid) (PAA-SH) functionalized gold nanoparticles were explored as a colloidal catalyst with potential application as a recoverable catalyst where the PAA provides pH-responsive dispersibility and phase transfer capability between aqueous and organic media. This system demonstrates complete nanoparticle recovery and redispersion over multiple reaction cycles without changes in nanoparticle morphology or reduction in conversion. The catalytic activity (rate constant) was reduced in subsequent reactions when recovery by aggregation was employed, despite unobservable changes in morphology or dispersability...
June 26, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
#16
John Futchko, Jordan Starr, Darryl Lau, Matthew R Leach, Christopher Roark, Aditya S Pandey, B Gregory Thompson
OBJECTIVE Smoking is a known risk factor for aneurysm development and aneurysmal subarachnoid hemorrhage, as well as subsequent vasospasm in both untreated individuals and patients who have undergone surgical clipping of cerebrovascular aneurysms. However, there is a lack of data in the current scientific literature about the long-term effects that smoking has on the integrity of endovascular repairs of cerebral aneurysms. This study was designed to determine if any smoking history increased the risk of poorer outcomes and/or aneurysm recurrence in patients who have had endovascular repair of cerebral aneurysms...
June 23, 2017: Journal of Neurosurgery
#17
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
#18
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Holly A F Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, Antonino Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J Michaelson, Zdenek Sedlacek, Gijs W E Santen, Hilde Peeters, Hakon Hakonarson, Eric Courchesne, Corrado Romano, R Frank Kooy, Raphael A Bernier, Magnus Nordenskjöld, Jozef Gecz, Kun Xia, Larry S Zweifel, Evan E Eichler
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of de novo missense mutations in patients with neurodevelopmental disorders (NDDs) and highlight 35 genes with excess missense mutations. Additionally, 40 amino acid sites were recurrently mutated in 36 genes, and targeted sequencing of 20 sites in 17,688 patients with NDD identified 21 new patients with identical missense mutations...
June 19, 2017: Nature Neuroscience
#19
Christopher Kuehl, Sharadvi Thati, Bradley Sullivan, Joshua Sestak, Michael Thompson, Teruna Siahaan, Cory Berkland
Antigen-specific immunotherapy (ASIT) has been used to hyposensitize patients to allergens and offers an enticing approach for attenuating autoimmune diseases. Applying ASIT to mucosal surfaces such as the lungs may engage unique immune response pathways to improve efficacy. Pulmonary delivery of soluble antigen arrays (SAgAs) was explored in mice with experimental autoimmune encephalomyelitis (EAE), a multiple sclerosis model. SAgAs were designed to impede immune response to autoantigen epitopes and are composed of a hyaluronan backbone with peptides PLP139-151 and LABL, a disease-causing proteolipid peptide epitope and an ICAM-1 ligand, respectively...
June 15, 2017: Journal of Pharmaceutical Sciences
#20
Jacquelyn A DuVall, Delphine Le Roux, Brandon L Thompson, Christopher Birch, Daniel A Nelson, Jingyi Li, Daniel L Mills, An-Chi Tsuei, Martin G Ensenberger, Cindy Sprecher, Douglas R Storts, Brian E Root, James P Landers
Forensic DNA analysis requires several steps, including DNA extraction, PCR amplification, and separation of PCR fragments. Intuitively, there are numerous situations where it would be beneficial to speed up the overall DNA analysis process; in this work, we focus on the most time-consuming component in the analysis pipeline, namely the polymerase chain reaction (PCR). Primers were specially designed to target 10 human genomic loci, all yielding amplicons shorter than 350 bases, for ease of downstream integration with on-board microchip electrophoresis...
August 8, 2017: Analytica Chimica Acta
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