Results 41 to 50 of about 9,920 (163)
DNASE1L3 Deficiency With Novel Missense Variant: Enzymatic and Plasma Fragmentomic Evidence of Pathogenicity and Partial Response to JAK Blockade
ACR Open Rheumatology, Volume 8, Issue 2, February 2026.Objective
Biallelic loss‐of‐function variants in DNASE1L3 cause inherited systemic lupus erythematosus and hypocomplementemic urticarial vasculitis. These disorders arise from defective clearance of extracellular chromatin, leading to autoantibody formation, immune complex deposition, and complement consumption.Annel Andrea Leon Tenorio, Takeshi Sugio, Jordan Cheng, Devon E. Bonner, Mohammad Shahrokh Esfahani, Sivakanthan Kasinathan, Joyce J. Hsu, Amanda Moyer, Luisa Pimentel Vera, Jennefer Carter, Chloe M. Reuter, Shruti Marwaha, Imelda Balboni, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan H. Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, Hongzheng Dai, Hsiao‐Tuan Chao, Ivan Chinn, James P. Orengo, Jill A. Rosenfeld, Kim Worley, Lindsay C. Burrage, Lisa T. Emrick, Lorraine Potocki, Monika Weisz Hubshman, Richard A. Lewis, Ronit Marom, Seema R. Lalani, Shamika Ketkar, Tiphanie P. Vogel, William J. Craigen, Jared Sninsky, Lauren Blieden, Sandesh Nagamani, Hugo J. Bellen, Michael F. Wangler, Oguz Kanca, Shinya Yamamoto, Christine M. Eng, Patricia A. Ward, Pengfei Liu, Adeline Vanderver, Cara Skraban, Edward Behrens, Gonench Kilich, Kathleen Sullivan, Kelly Hassey, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Vishnu Cuddapah, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Anne Slavotinek, Christopher Mayhew, Eneida Mendonca, Ziyuan Guo, Allyn McConkie‐Rosell, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Alan H. Beggs, David A. Sweetser, David Chiang, Deepak A. Rao, Frances High, Ganesh Mochida, Gerard T. Berry, Ingrid A. Holm, J. Carl Pallais, Joseph Loscalzo, Lance H. Rodan, Lauren C. Briere, Melissa Walker, Tina Truong, Wendy Chung, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Shamil R. Sunyaev, Shilpa N. Kobren, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Kathleen Page, Paul Auwaerter, Yuka Manabe, Carlos A. Pardo‐Villamizar, Julie Hoover‐Fong, Philip Dane Witmer, Winston Timp, Matthew Robinson, Zackary Dov Berger, Elizabeth Wohler, Nara Sobreira, Arian Nouraee, Carlos Prada, Erica Davis, Kai Lee Yap, Kelly Regan‐Fendt, María Paula Silva, Patrick McMullen, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Surendra Dasari, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael T. Zimmermann, Adriana Rebelo, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Herman Taylor, Rakale C. Quarells, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham‐Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Vaidehi Jobanputra, Andrea Gropman, Barbara N. Pusey Swerdzewski, Camilo Toro, Colleen E. Wahl, Donna Novacic, Ellen F. Macnamara, John J. Mulvihill, Maria T. Acosta, Precilla D'Souza, Valerie V. Maduro, Ben Afzali, Ben Solomon, Cynthia J. Tifft, David R. Adams, Elizabeth A. Burke, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Marie Morimoto, Marla Sabaii, MayChristine V. Malicdan, Neil Hanchard, Orpa Jean‐Marie, Wendy Introne, William A. Gahl, Yan Huang, Andrew Stergachis, Danny E. Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Emily Shelkowitz, Eric Allenspach, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Katrina Dipple, Mark Wener, Martha Horike‐Pyne, Michael Bamshad, Peter Byers, Seth Perlman, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Nitsuh K. Dargie, Chun‐Hung Chan, Dr Francisco Bustos Velasquez, Isum Ward, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Alexander Miller, Beatriz Anguiano, Beth A. Martin, Brianna Tucker, Chloe M. Reuter, Devon Bonner, Elijah Kravets, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Sara Emami, Shruti Marwaha, Stephen B. Montgomery, Suha Bachir, Tanner D. Jensen, Taylor Maurer, Terra R. Coakley, Euan A. Ashley, Anna Hurst, Brandon M. Wilk, Bruce Korf, Elizabeth A. Worthey, Kaitlin Callaway, Martin Rodriguez, Pongtawat Lertwilaiwittaya, Reaford Blackburn, Tammi Skelton, Tarun K. K. Mamidi, Teneasha Washington, Andrew B. Crouse, Jordan Whitlock, Mariko Nakano‐Okuno, Matthew Might, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Jose Abdenur, Kirsten Blanco, Maija‐Rikka Steenari, Rebekah Barrick, Richard Chang, Sanaz Attaripour, Suzanne Sandmeyer, Tahseen Mozaffar, Alden Huang, Andres Vargas, Bianca E. Russell, Brent L. Fogel, Esteban C. Dell'Angelica, George Carvalho, Julian A. Martínez‐Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Dana Sayer, Jennifer Tousseau, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, John Carey, Justin Alvey, Lorenzo Botto, Nicola Longo, Paolo Moretti, Rebecca Overbury, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Matt Velinder, Gabor Marth, Pinar Bayrak‐Toydemir, Rong Mao, Monte Westerfield, John A. Phillips III, Kimberly Ezell, Lynette Rives, Rizwan Hamid, Alyson Krokosky, Ashley McMinn, Cathy Shyr, Eric Gamazon, Joy D. Cogan, Lakshitha Perera, Lisa Bastarache, Mary Koziura, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Erin McRoy, Jennifer Wambach, Kathy Sisco, Patricia Dickson, F. Sessions Cole, Dustin Baldridge, Jimann Shin, Lilianna Solnica‐Krezel, Stephen C. Pak, Timothy Schedl, Allen Bale, Carol Oladele, Caroline Hendry, Emily Wang, Hua Xu, Hui Zhang, Lauren Jeffries, María José Ortuño Romero, Mark Gerstein, Michele Spencer‐Manzon, Monkol Lek, Nada Derar, Odelya Kaufman, Shrikant Mane, Teodoro Jerves Serrano, Vasilis Vasiliou, Winston Halstead, Yong‐Hui Jiang, Matthew T. Wheeler, Jonathan A. Bernstein, Ash Alizadeh, Natalia Gomez‐Ospina +369 morewiley +1 more sourceAntiphospholipid antibodies in Brazilian hepatitis C virus carriers
Brazilian Journal of Medical and Biological Research, 2008 Hepatitis C, a worldwide viral infection, is an important health problem in Brazil. The virus causes chronic infection, provoking B lymphocyte dysfunction, as represented by cryoglobulinemia, non-organ-specific autoantibody production, and non-Hodgkin's ...A.M. Atta, P. Estevam, R. Paraná, C.M. Pereira, B.C.O. Leite, M.L.B. Sousa-Atta +5 moredoaj NARFL Knockout Triggers Ferroptosis‐Driven Vascular Endothelial Dysfunction
Advanced Science, Volume 13, Issue 8, 9 February 2026.NARFL is vital for CIA and oxidative stress resistance. NARFL deletion in HPMEC cells, zebrafish, and mice is lethal and rescued by a Ferroptosis inhibitor. NARFL deficiency disrupted its interaction with CIA proteins, decreased aconitase activity, increased IRP1 activity, induced Fe overload, and led to ferroptosis and oxidative stress, resulting in ...Hui Hu, Jing Luo, Li Yu, Daoxi Qi, Boyu Li, Yating Chen, Chen Wang, Xiaokang Zhang, Wenzheng Guo, Qiyong Lou, Gang Zhai, Yonglin Ruan, Jianfei Huang, Shengchi Shi, Zhan Yin, Fang Zheng +15 morewiley +1 more sourcePrognostic Value of Lupus Anticoagulant and Anti–β2 Glycoprotein I Antibody in Adverse Pregnancy Outcomes
Arthritis &Rheumatology, Volume 78, Issue 2, Page 371-384, February 2026.Objective
International criteria for antiphospholipid syndrome (APS) include lupus anticoagulant (LA), anticardiolipin (aCL) IgG and IgM, and anti–β2‐glycoprotein I (β2GPI) IgG and IgM. However, evidence supporting their prognostic value or treatment efficacy in improving live birth rates is limited.Megumi Nonobe, Takahiro Otani, Hiroyuki Yoshihara, Shinobu Goto, Tamao Kitaori, Naomi Nishikawa, Yuichiro Fujieda, Tatsuya Atsumi, Mayumi Sugiura‐Ogasawara +8 morewiley +1 more sourceAnticardiolipin antibodies in Jamaican primiparae
Journal of Obstetrics and Gynaecology, 2006 A prevalence survey of anticardiolipin antibodies (aCL) was done among 924 primiparae. aCL were measured in serum by the standardised anticardiolipin enzyme linked immunosorbent assays (ELISA) and beta(2)-glycoprotein 1 assays to determine the seroprevalence of both beta(2) glycoprotein 1 dependent aCL and beta(2)-glycoprotein 1 independent aCL in ...E K, Kahwa, L A, Sargeant, A, McCaw-Binns, N, McFarlane-Anderson, M, Smikle, T, Forrester, R, Wilks +6 moreopenaire +2 more sourcesPOTS and Antiphospholipid Syndrome: An Unlikely Association
Case Reports in Rheumatology, 2021 Antiphospholipid syndrome is a rare complication of postural orthostatic tachycardia syndrome. Clinically, the presentation has overlapping symptoms of both diseases, with lightheadedness or syncope when moving from a supine to a standing position as ...Kalvin Zee, Shakaib Qureshidoaj +1 more sourceLaboratory Identification of Lupus Anticoagulant (LA) Using Different Activated Partial Thromboplastin Time (APTT) Assays
International Journal of Laboratory Hematology, Volume 48, Issue 1, Page 172-178, February 2026.ABSTRACT Introduction
The International Society of Thrombosis and Hemostasis (ISTH) guidelines suggest a three‐step evaluation for the detection of lupus anticoagulant (LA), including screening, mixing, and confirmation. According to the guidelines, the LA assay based on activated partial thromboplastin time (APTT) should include an initial screening ...Bárbara G. Barion, Bianca Stefanello, Maria Luiza S. A. de Paula, Thaís S. Saraiva, Paula R. Villaça, Vanderson Rocha, Fernanda A. Orsi, Tania R. F. da Rocha +7 morewiley +1 more sourceFacts and Misfacts on D‐Dimer Testing. Consensus Guidance From the Italian Society on Thrombosis and Hemostasis (SISET)
American Journal of Hematology, Volume 101, Issue 1, Page 97-109, January 2026.ABSTRACT
D‐dimer defines degradation products derived from the proteolysis mediated by plasmin on cross‐linked fibrin. The evidence‐based use of D‐dimer in some conditions has been consolidated. Currently, however, there is an entrenched prescription of D‐dimer testing to screen otherwise healthy subjects that may induce prescribing physicians to start Armando Tripodi, Walter Ageno, Luca Barcella, Antonio Coppola, Marcello Di Nisio, Massimo Franchini, Monia Marchetti, Rossella Marcucci, Marco Marietta, Pasquale Pignatelli, Domenico Prisco, Valerio De Stefano +11 morewiley +1 more source
