Results 101 to 110 of about 323,586 (342)

The fifth domain of beta 2-glycoprotein I contains a phospholipid binding site (Cys281-Cys288) and a region recognized by anticardiolipin antibodies.

Journal of Immunology, 1994
We have identified a phospholipid binding site in the fifth domain of beta 2-glycoprotein I (beta 2-GPI). Using synthetic peptides spanning the fifth domain of beta 2-GPI, we have shown that the presence of the sequence Glu274-Cys288 caused a decrease in
J. Hunt, S. Krilis
semanticscholar   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

The J-shape of β2GPI reveals a cryptic discontinuous epitope across domains I and II

Journal of Structural Biology: X
Beta-2-Glycoprotein I is the main target for pathogenic antiphospholipid syndrome autoantibodies. It can adopt several conformations, including an O-shape and two more linear J- and S-shapes.
C.J. Lalaurie, M. Kulke, N. Geist, M. Delcea, P.A. Dalby, T.C.R. McDonnell   +5 more
doaj   +1 more source

Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]

, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Abdul Ethayathulla, Birendra Yadav, Firdos Ahmad, Meganathan Kannan, Rajive Kumar, Renu Saxena, Ved Choudhry   +6 more
core   +1 more source

The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR [PDF]

, 2019
1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB).
Biebermann, Heike, Grüters-Kieslich, Annette, Kalveram, Laura, Kleinau, Gunnar, Rivero-Müller, Adolfo, Scheerer, Patrick, Szymańska, Kamila   +6 more
core   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Kehamilan Dengan Sindroma Antifosfolipid [PDF]

, 2016
Antiphospholipid antibody syndrome is disorder of coagulation characterize with vascular thrombosis associated with increase of antiphospholipid (aPL) antibody such as anticardiolipin (aCL) antibodies, lupus anticoagulant (LA), and anti-beta 2 ...
herlambang, H. (herlambang)
core  

Exploring Patients’ Profiles Associated With the Resolution of Acute Calcium Pyrophosphate Arthritis Treated With Colchicine and Prednisone: Post Hoc Analysis of a Randomized Controlled Trial

Arthritis Care &Research, EarlyView.
Objective The objective was to identify factors determining acute arthritis resolution and safety with colchicine and prednisone in acute calcium pyrophosphate (CPP) crystal arthritis. Methods We conducted a post hoc analysis of the COLCHICORT trial, which compared colchicine and prednisone for the treatment of acute CPP crystal arthritis, using a ...
Tristan Pascart, Laurène Norberciak, Pascal Richette, Pierre Robinet, Aurore Pacaud, Gauthier Marchasson, Thibault Rabin, Hélène Luraschi, Pierre Maciejasz, Anne‐France Georgel, Augustin Latourte, Hang‐Korng Ea, Sébastien Ottaviani, Charlotte Jauffret, Vincent Ducoulombier   +14 more
wiley   +1 more source

Stronger inflammatory/cytotoxic T cell response in women identified by microarray analysis [PDF]

, 2008
Women develop chronic inflammatory autoimmune diseases like lupus more often than men. The mechanisms causing the increased susceptibility are incompletely understood, although estrogen is believed to contribute.
Anura Hewagama, Bruce C. Richardson, Dipak Patel, Faith M. Strickland, Sushma Yarlagadda   +4 more
core   +1 more source

Chromatin status and transcription factor binding to gonadotropin promoters in gonadotrope cell lines. [PDF]

, 2017
BackgroundProper expression of key reproductive hormones from gonadotrope cells of the pituitary is required for pubertal onset and reproduction. To further our understanding of the molecular events taking place during embryonic development, leading to ...
Brayman, Melissa J, Hoffmann, Hanne M, Iyer, Anita K, Mellon, Pamela L, Ngo, Cindy, Sunshine, Mary Jean, Xie, Huimin   +6 more
core   +3 more sources