Results 71 to 80 of about 5,041 (194)

Genomic Prediction and Genome‐Wide Association Analysis of Heat Tolerance for Milk Yield in Buffaloes Using a Reaction Norm Model

Journal of Animal Breeding and Genetics, Volume 143, Issue 2, Page 342-353, March 2026.
ABSTRACT The aim of this study was to evaluate the impact of incorporating genomic information on the estimation of genetic (co)variance components and the accuracy of breeding values for milk yield under varying thermal environments, and to identify SNPs associated with genes that play significant roles in heat tolerance.
Gabriela Stefani, Mário Luiz Santana, Lenira El Faro, Humberto Tonhati   +3 more
wiley   +1 more source

Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. [PDF]

PLoS ONE, 2012
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies and is characterized by a non-conventional genetic mechanism activated by pathogenic D4Z4 repeat contractions.
Giorgio Tasca, Mario Pescatori, Mauro Monforte, Massimiliano Mirabella, Elisabetta Iannaccone, Roberto Frusciante, Tiziana Cubeddu, Francesco Laschena, Pierfrancesco Ottaviani, Enzo Ricci   +9 more
doaj   +1 more source

Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35.
Rahimov, Fedik, Kunkel, Louis M., King, Oliver D., Emerson, Charles P. Jr., Wagner, Kathryn R., Leung, Doris G., Bibat, Genila M.   +6 more
core   +1 more source

DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. [PDF]

PLoS ONE, 2009
Facioscapulohumeral muscular dystrophy (FSHD) is a dominant disease linked to contractions of the D4Z4 repeat array in 4q35. We have previously identified a double homeobox gene (DUX4) within each D4Z4 unit that encodes a transcription factor expressed ...
Eugénie Ansseau, Dalila Laoudj-Chenivesse, Aline Marcowycz, Alexandra Tassin, Céline Vanderplanck, Sébastien Sauvage, Marietta Barro, Isabelle Mahieu, Axelle Leroy, India Leclercq, Véronique Mainfroid, Denise Figlewicz, Vincent Mouly, Gillian Butler-Browne, Alexandra Belayew, Frédérique Coppée   +15 more
doaj   +1 more source

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy. [PDF]

PLoS Genetics, 2013
Generation of skeletal muscles with forms adapted to their function is essential for normal movement. Muscle shape is patterned by the coordinated polarity of collectively migrating myoblasts.
Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, Angela Zimmermann, Simon Denadai, Marie Lebossé, Stephane Roche, Linda Geng, Frederique Magdinier, Shahram Attarian, Rafaelle Bernard, Flavio Maina, Nicolas Levy, Françoise Helmbacher   +15 more
doaj   +1 more source

Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Background The diagnosis of inclusion body myositis (IBM) can be delayed because of its heterogeneous clinical presentation and the lack of specific biomarkers. Muscle imaging has gained increasing relevance over the past decade and is now included among the supportive criteria in the international diagnostic guidelines.
Eleonora Torchia, Matteo Lucchini, José Verdu‐Diaz, Sara Bortolani, Beatrice Ravera, Vincenzo Carlomagno, Alessandra Cicia, Daniela Bernardo, Mauro Monforte, Robert Rehmann, Rudolf Andre Kley, Mario Sabatelli, Jordi Díaz‐Manera, Enzo Ricci, Massimiliano Mirabella, Giorgio Tasca   +15 more
wiley   +1 more source

Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease

, 2014
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disease, with an epigenetic basis linked to contractions or hypomethylation of the chromosome 4q subtelomere.
Emerson, Charles P. Jr., Himeda, Charis
core   +1 more source

The history of research on facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj  

EAN 2024 Guideline on the Diagnostic Approach to Oligo/Asymptomatic HyperCKemia

European Journal of Neurology, Volume 33, Issue 2, February 2026.
ABSTRACT Background Recent epidemiological studies on the general population reveal that up to 1.3% have oligo/asymptomatic hyperCKemia. Objective This guideline aims to provide updated, evidence‐based recommendations on investigating persons older than 18 years.
T. Kyriakides, K. Aleksovska, C. Angelini, Z. Argov, K. G. Claeys, M. de Visser, M. FIlosto, I. Jovanovic, A. Kostera‐Pruszczyk, M. J. Molnar, S. Sacconi, J. Schaefer, G. Siciliano, J. J. Vilchez, B. Schoser, A. Toscano   +15 more
wiley   +1 more source

Multi‐Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.
ABSTRACT Background Myofibrillar myopathies (MFM) form a large group of clinically and genetically heterogeneous protein aggregate diseases. We investigated whether a novel quantitative MRI protocol can reveal new aspects of structural and biochemical muscle pathology in three classic MFM subtypes.
Claudius S. Mathy, Lena V. Gast, Christian Holtzhausen, Teresa Gerhalter, Christoph Stuprich, Matthias Türk, Rafael Heiss, Benjamin Marty, Frederik B. Laun, Julia V. Wanschitz, Simon Hametner, Arnd Dörfler, Michael Uder, Tobias Bäuerle, Armin M. Nagel, Rolf Schröder   +15 more
wiley   +1 more source