Results 31 to 40 of about 4,345 (211)

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

Fluorogenic Coupled Assays Reveal Catalytic Properties, Inhibition Constants and Cellular Location of Mucin‐Active Carbohydrate Sulfatases

Angewandte Chemie, EarlyView.
We report plate‐based coupled assays to rapidly and quantitatively determine the activity and selectivity of mucin‐active carbohydrate sulfatases. This fluorogenic assay further enables inhibitor identification and allows determination of (sub‐)cellular location. ABSTRACT Sulfated glycans play a central role in human health and influence cell signaling,
Charles W. E. Tomlinson, Madouc D. Bergers, David N. Bolam, Ana S. Luis, Alan Cartmell, Zachary Armstrong   +5 more
wiley   +2 more sources

Study of the underlying mechanisms and consequences of pathogenicity differences between two in vitro selected G1-H9N2 clones originating from a single isolate

Veterinary Research, 2019
The G1-H9N2 avian influenza virus (AIV) has caused significant economic losses in the commercial poultry industry due to reduced egg production and increased mortality.
Giang Thu Nguyen, Fabienne Rauw, Mieke Steensels, Fiona Ingrao, Francesco Bonfante, Irit Davidson, Bénédicte Lambrecht   +6 more
doaj   +1 more source

A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi, Giorgio Ricciardiello Mejia, Andre Metzger, Kang Hyun Ryu, Salonee Marwaha, Eva Grzegorczyk, Li Zhou, Eliana Jacobs, Boris Gilyadov, Claudia Kunney, Liqhwa Ncube, Ankit Parekh, Emmanuel Mignot, Fanny M. Elahi, Joseph Winer, Kathleen Poston, Andreas Brink‐Kjaer, Emmanuel H. During   +17 more
wiley   +1 more source

Newcastle Disease: A Review [PDF]

Egyptian Journal of Animal Health
Virulent strains of Newcastle disease virus (NDV) can cause severe damage to tissues in the gastrointestinal tract, respiratory and reproductive organs, in addition to neurological disorders and high mortality in poultry.
doaj   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

STUDI HISTOPATOLOGI PADA LIMPA DAN BURSA FABRICIOUS AYAM NEWCASTLE DISEASE DARI KASUS LAPANG HISTOPATHOLOGY (STUDIES ON SPLEEN AND BURSA OF FABRICIUS OF NEWCASTLE DISEASE CHICKHENS FROM FIELD CASE)

Jurnal Veteriner, 2018
Newcastle Disease merupakan penyakit unggas yang sangat menular dan sangat mematikan pada semua unggas. Penelitian ini bertujuan mengetahui lesi dan distribusi virus Newcastle disease pada organ limpa dan bursa Fabricious ayam dari kasus-kasus lapangan ...
Etriwati Etriwati, Ekowati Handharyani, Surachmi Setiyaningsih   +2 more
doaj   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Seroprevalensi Antibodi Newcastle Disease (ND) pada Itik di Desa Temuasri, Sempu, Banyuwangi

Jurnal Medik Veteriner, 2020
Tujuan penelitian ini untuk mendeteksi titer antibodi ND pada itik di Desa Temuasri Kecamatan Sempu Kabupaten Banyuwangi. Deteksi antibodi ND diperiksa dengan uji Hemaglutinasi (HA) dan Hambatan Hemaglutinasi (HI).
Fachrur Rozi, Jola Rahmahani, Iwan Sahrial Hamid, Aditya Yudhana, Ratih Novita Praja   +4 more
doaj   +1 more source

Characteristics and Outcomes of Male Participants in a Multicenter Longitudinal Australian Study Cohort

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to determine the differences in demographic, serologic, and clinical characteristics between male and female patients with systemic sclerosis (SSc) in an Australian cohort. Methods This was a retrospective observational study using data from the Australian Scleroderma Cohort Study.
Emily Lin, Dylan Hansen, Laura Ross, Gene‐Siew Ngian, Susanna Proudman, Gabor Major, Maryam Tabesh, Mandana Nikpour, Jennifer Walker, Lauren Host, Nava Ferdowsi, Alannah Quinlivan, Wendy Stevens, Joanne Sahhar, Diane Apostolopoulos   +14 more
wiley   +1 more source