Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Autor: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor

Publikováno v: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)

Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l

Externí odkaz: https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc

Reproductive tract extracellular vesicles are sufficient to transmit intergenerational stress and program neurodevelopment

Autor: Jennifer C. Chan, Christopher P. Morgan, N. Adrian Leu, Amol Shetty, Yasmine M. Cisse, Bridget M. Nugent, Kathleen E. Morrison, Eldin Jašarević, Weiliang Huang, Nickole Kanyuch, Ali B. Rodgers, Natarajan V. Bhanu, Dara S. Berger, Benjamin A. Garcia, Seth Ament, Maureen Kane, C. Neill Epperson, Tracy L. Bale

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)

Evidence for sperm small noncoding RNA-mediated intergenerational transmission implies communication from responsive somatic cells to sperm. Here, authors show that epididymal cells alter extracellular vesicle cargo after stress exposure, to impact o

Externí odkaz: https://doaj.org/article/25257cea7d2d42d8a29025504d0f0690

SARS-CoV-2 Nsp6 causes cardiac defects through MGA/MAX complex-mediated increased glycolysis

Autor: Jun-yi Zhu, Guanglei Wang, Xiaohu Huang, Hangnoh Lee, Jin-Gu Lee, Penghua Yang, Joyce van de Leemput, Weiliang Huang, Maureen Kane, Peixin Yang, Zhe Han

SARS-CoV-2 infection causes COVID-19, a severe acute respiratory disease associated with cardiovascular complications including long-term outcomes. The presence of virus in cardiac tissue of patients with COVID-19 suggests this is a direct, rather th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::63e211ce6d1ad799a6ea18e6a1a15526
https://doi.org/10.21203/rs.3.rs-1677754/v1

THE ROLE OF PLATELET ENERGY METABOLISM IN PAIN AFTER WALKING IN BLACK ADULTS WITH KNEE OSTEOARTHRITIS

Autor: Jennifer Klinedinst, Weiliang Huang, Maureen Kane, Gary Fiskum, Apruva Borcar, Parisa Rangghran, Susan Dorsey

Publikováno v: Innovation in Aging. 6:664-664

Nearly 30% of adults aged 60 or older suffer from knee osteoarthritis (KOA) that causes significant pain and disability. Walking is considered a “gold standard” treatment option for reducing KOA pain and maintaining joint mobility. However, pragm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aa98df94753ee99fedd00724ed7a5402
https://doi.org/10.1093/geroni/igac059.2449

The effect of breastfeeding on postpartum fructosamine and HbA1c values after normal pregnancy

Autor: Rosemary Fitzgerald, Lauren A. Plante, Patricia Ragone, Maureen Kane, Michael P. Carson, Cynthia Kearse

Publikováno v: Obstet Med

Introduction Breastfeeding can lower postpartum oral glucose tolerance test results by 5%. Similar data do not exist regarding fructosamine and HbA1c. The primary outcome was to determine if breastfeeding would lower fructosamine values by 5%. Method

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728cac63c90ed9d6aded3604806ce235
https://pubmed.ncbi.nlm.nih.gov/33995567