Results 51 to 60 of about 986,336 (320)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Triangular Index Ratio as An Alternative Method to the Alpha Angle for Defining the Presence of Cam Morphology: A Prospective Cohort Study

Arthritis Care &Research, Accepted Article.
Objective Cam morphology, a significant risk factor for hip osteoarthritis, is commonly quantified by the alpha angle (AA). This study aims to explore the potential of the triangular index ratio (TIR) to quantify cam morphology on anteroposterior radiographs by assessing the association between TIR‐defined cam morphology and the development of ...
Jinchi Tang, Fleur Boel, Michiel M. A. van Buuren, Noortje S. Riedstra, Myrthe A. van den Berg, Jos Runhaar, Sita Bierma‐Zeinstra, Rintje Agricola   +7 more
wiley   +1 more source

Investigación de las mutaciones Leiden del factor V y G20210A de la protrombina en pacientes pediátricos con hemofilia A grave: informe preliminar [PDF]

, 2009
Introducción: Se ha descrito que las características clínicas de la hemofilia A grave se ven modificadas favorablemente por el efecto de factores protrombóticos, específicamente las mutaciones Leiden del factor V y la G20210A de la protrombina. Pacientes
González Ávila, Itamar, Hernández Mote, Rosaura, Jonguitud Díaz, Vanesa, Luna Gaspar, Alma Rosa, López Martines, Briceida, Parra Ortega, Israel, Ramírez Guerrero, Celedonio   +6 more
core  

Biopsychosocial determinants of hand function and its trajectories over five years in patients with hand osteoarthritis

Arthritis Care &Research, Accepted Article.
Objectives This study aimed to investigate hand function trajectories over 5 years in primary hand osteoarthritis. Additionally, determinants of baseline and longitudinal hand function were assessed. Methods 538 patients with both baseline and 5‐year study visits were analyzed.
Annemiek V.E.M. Olde Meule, Coen van der Meulen, Jos Runhaar, Frits R. Rosendaal, Margreet Kloppenburg   +4 more
wiley   +1 more source

SV-IV Peptide1–16 reduces coagulant power in normal Factor V and Factor V Leiden

Journal of Translational Medicine, 2007
Native Factor V is an anticoagulant, but when activated by thrombin, Factor X or platelet proteases, it becomes a procoagulant. Due to these double properties, Factor V plays a crucial role in the regulation of coagulation/anticoagulation balance. Factor
Ferrazzi Paola, Quaglia Ilaria, Rota Lidia, Lepretti Marilena, Di Micco Biagio, Di Micco Gianluca, Di Micco Pierpaolo   +6 more
doaj   +1 more source

Comparative frequency of Coagulation Factor II and Coagulation Factor V Alleles among new-born and senior citizens [PDF]

, 2005
Resistance to activated protein C is one of the most common inherited disorders associated with hereditary thrombophilia. A missense mutation in the gene coding for coagulation factor V (CF V Leiden) and which renders this procoagulant factor resistant ...
Abela Medici, Joseph, Bezzina Wettinger, Stephanie, Felice, Alex, Grochowska, Alicha, Scerri, Christian A.   +4 more
core  

Factor V Leiden and Prothrombin G20210A in Portuguese Women with Recurrent Miscarriage: Is it Worthwhile to Investigate? [PDF]

, 2011
OBJECTIVE: To compare the prevalence of factor V Leiden (FVL) and prothrombin (PT) G20210A mutations in Portuguese women with unexplained recurrent miscarriage (RM) and a control group of parous women.
Almeida, JP, Branco, J, Lima, ML, Lopes, C, Serrano, F   +4 more
core   +2 more sources

Supramolecular Engineering of Fluid Pressure in Filamentous Hybrid Double Network Hydrogels for 3D Chondrocyte Culture

Advanced Healthcare Materials, EarlyView.
Inspired by the water‐rich and interconnected biopolymer networks of native load‐bearing tissues, we disclose a connectable design for a hybrid filamentous supramolecular and covalent double network hydrogel generated through in situ photopolymerization.
Ciqing Tong, Ying Chen, Merel L. Janssen, Isabel Sariol, Joeri A. J. Wondergem, Marijn van den Brink, Mertcan Özel, Rob G. H. H. Nelissen, Ingrid Meulenbelt, Doris Heinrich, Yolande F. M. Ramos, Roxanne E. Kieltyka   +11 more
wiley   +1 more source

FACTOR V LEIDEN MUTATIONS AND UNILATERAL RETINAL VEIN OCCLISION: A REGIONAL STUDY OF EASTERN PART OF TURKEY

Eurasian Journal of Medicine, 2019
Purpose: We investigated the role of factor V Leiden mutation in patients with retinal vein occlusion (RVO). Method: Factor V Leiden mutation was investigated in DNA obtained from the peripheral blood of 30 patients, diagnosed with retinal vein ...
Orhan Ateş, Orhan Baykal
doaj  

The Association between Preeclampsia and Defined Polymorphisms in Prothrombin and Coagulation Factor V Genes [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background & Aims: Preeclampsia is one of the complications of pregnancy and a major cause of maternal mortality. Since, hypercoagulation is one of the risk factors, defined polymorphisms of V and II coagulation factors (G1691A and G20210A) may increase ...
Zohreh Salari, Nasrollah Saleh-gohari, Nushin Zainali, Neda Salmani-Cheharfarsakhi   +3 more
doaj