Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Autor: Adam M. Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S. Akesson, Mohammad Al-Shinnag, Stephen I. Alexander, Alison D. Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J. Brown, Samantha J. Bryen, Michael F. Buckley, Belinda Chong, Mark R. Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J. Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K. Hopper, Ari E. Horton, Matthew F. Hunter, Aamira J. Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R. Kumar, Frances Lemckert, Richard J. Leventer, Suzanna E. Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E. Marum, Hugh J. McCarthy, Manoj P. Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E. Palmer, Chirag Patel, Shilpan G. Patel, Dean Phelan, Jason R. Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H. Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A. Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B. Sinnerbrink, Janine M. Smith, Richard J. Smith, Amanda Springer, Zornitza Stark, Samuel P. Strom, Carolyn M. Sue, Kenneth Tan, Tiong Y. Tan, Esther Tantsis, Michel C. Tchan, Bryony A. Thompson, Alison H. Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M. White, Mark G. Williams, Meredith J. Wilson, Wui Kwan Wong, Dale C. Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J. Jones, Bruce Bennetts, Sandra T. Cooper, Ghusoon Abdulrasool, Ghamdan Al Eryani, Peer Arts, Richard Bagnall, Naomi L. Baker, Christopher Barnett, Sarah Beecroft, Marina Berbic, Michael Black, Jim Blackburn, Piers Blombery, Susan Branford, Jimmy Breen, Leslie Burnett, Daffodil Canson, Pak Cheong, Edward Chew, John Christodoulou, Seo-Kyung Chung, Mike Clark, Corrina Cliffe, Melissa Cole, Felicity Collins, Alison Compton, Antony Cooper, Mark Corbett, Mark Cowley, Tracy Dudding, Stefanie Eggers, Eduardo Eyras, Miriam Fanjul Fernandez, Andrew Fellowes, Ron Fleischer, Chiara Folland, Lucy Fox, Clara Gaff, Melanie Galea, Roula Ghaoui, Ilias Gornanitis, Thuong Ha, Rippei Hayashi, Ian Hayes, Alex Henderson, Luke Hesson, Erin Heyer, Michael Hildebrand, Michael Hipwell, Cass Hoskins, Matilda Jackson, Paul James, Justin Jong-Leong Wong, Karin Kassahn, Peter Kaub, Lucy Kevin, Smitha Kumble, Sarah Kummerfeld, Nigel Laing, Chiyan Lau, Eric Lee, Sarah Leighton, Ben Lundie, Chelsea Mayoh, Julie McGaughran, Mary McPhillips, Cliff Meldrum, Edwina Middleton, Kym Mina, Amy Nisselle, Emily Oates, Alicia Oshlack, Gayathri Parasivam, Michael Parsons, Michael Quinn, John Rasko, Gina Ravenscroft, Anja Ravine, Krista Recsei, Jacqueline Rehn, Stephen Robertson, Anne Ronan, Georgina Ryland, Simon Sadedin, Andreas Schreiber, Hamish Scott, Rodney Scott, Christopher Semsarian, Cas Simons, Emma Singer, Renee Smyth, Amanda Spurdle, Patricia Sullivan, Samantha Sundercombe, David Thorburn, John Toubia, Ronald Trent, Emma Tudini, Irina Voneague, Leigh Waddell, Logan Walker, Mathew Wallis, Nick Warnock, Robert Weatheritt, Deborah White, Ingrid Winship, Lisa Worgan, Kathy Wu, Andrew Ziolowski

usc Refereed/Peer-reviewed Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e89d7bfd7ca0514671d5a9885197b140
https://hdl.handle.net/11541.2/34507

Menisci and Fullness of the Blink in Dry Eye

Autor: Michelle Garcia, Haixia Liu, M. Chen, Wendy W. Harrison, Carolyn G. Begley, Janine A. Smith

Publikováno v: Optometry and Vision Science. 85:706-714

This study was to investigate the role of the upper meniscus in tear film formation and blinking.One microliter of 2% fluorescein was instilled under the upper lid of 15 dry eye (DE) and 15 control subjects. Subjects were instructed to blink partiall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::604cbd018eb3e726258949513eb98535
https://doi.org/10.1097/opx.0b013e318181ae02

Diagnosis and treatment of vasculitis of the central nervous system in a patient with systemic lupus erythematosus

Autor: Nikolay P. Nikolov, Gabor G. Illei, Nicholas J. Patronas, Janine A. Smith

Publikováno v: Nature Clinical Practice Rheumatology. 2:627-633

Background A 23-year-old white woman with a 3-year history of systemic lupus erythematosus and a 15-month history of lupus nephritis and retinal vasculitis was successfully treated with antibiotics for Pseudomonas aeruginosa pneumonia while on modera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f7fe3c1bee5426a7fa294f993ca0376
https://doi.org/10.1038/ncprheum0337

Management of chronic pediatric uveitis

Autor: Grace A. Levy-Clarke, Janine A. Smith, Robert B. Nussenblatt

Publikováno v: Current Opinion in Ophthalmology. 16:281-288

Purpose of review The diagnosis and management of chronic pediatric uveitis can be particularly challenging, with an estimated 25-33% of childhood uveitis cases resulting in severe, life-long visual disability. This paper reviews the recent literatur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cd6a71b8609975e8af626ab36fea2ca
https://doi.org/10.1097/01.icu.0000177414.79030.32

Pilot clinical trial of dehydroepiandrosterone (DHEA) versus placebo for Sjögren's syndrome

Autor: Janine A. Smith, Vidya Sankar, Michael T. Brennan, Rose Anne Leakan, Margaret Grisius, Marc R. Kok, Sophie Ligier, Lida Radfar, Philip C. Fox, Albert Kingman, Stanley R. Pillemer

Publikováno v: Arthritis Care & Research. 51:601-604

Objective To screen for potential efficacy and assess feasibility and safety of dehydroepiandrosterone (DHEA) as a treatment for Sjogren's syndrome (SS). Methods A 24-week randomized, double-blinded, pilot trial of oral DHEA (200 mg/day) versus place

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ed48553a94e3bac4a5bd012f2569b0f
https://doi.org/10.1002/art.20540