Results 61 to 70 of about 2,143,667 (228)

Congenital myopathies: A clinicopathological study of 25 cases

Indian Journal of Pathology and Microbiology, 2008
Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases. Materials and methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 ...
Jain Deepali, Sharma Mehar, Sarkar Chitra, Gulati Shefali, Kalra Veena, Singh Sumit, Bhatia Rohit   +6 more
doaj  

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle, 2020
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant ...
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen   +7 more
doaj   +1 more source

Missense mutations of ACTA1 cause dominant congenital myopathy with cores [PDF]

Journal of Medical Genetics, 2004
ongenital myopathies (CM) are neuromuscular disorders classified by characteristic histopathological findings in muscle fibers. Areas devoid of oxidative enzyme activity (core lesions) are pathological hallmarks of autosomal dominant or recessive central core disease (CCD; MIM 117000) and multiminicore disease (MmD; MIM 255320).
A M, Kaindl, F, Rüschendorf, S, Krause, H-H, Goebel, K, Koehler, C, Becker, D, Pongratz, J, Müller-Höcker, P, Nürnberg, G, Stoltenburg-Didinger, H, Lochmüller, A, Huebner   +11 more
openaire   +2 more sources

Interleukin‐2 Deprived State of Regulatory T cells and Their Recovery by Low‐Dose Interleukin‐2 in Patients With Inflammatory Myopathies

Arthritis &Rheumatology, EarlyView.
Objective Regeneration and expansion of Treg by low‐dose interleukin‐2 (IL‐2) therapy is considered a potential treatment strategy for a wide range of autoimmune diseases. To provide a pathophysiologically‐based rationale for low‐dose IL‐2 therapy, we investigated whether reversible defects in the Treg–IL‐2 axis emerge in inflammatory myopathies ...
Justus Ohmes, Luisa R. Monne, Sara Comdühr, Fynn Gerlach, Hanna Grasshoff, Alexander Dübbers, Antje Müller, Alexander Scheffold, Gabriela Riemekasten, Reza Akbarzadeh, Jens Y. Humrich   +10 more
wiley   +1 more source

Element 5 Letter to Chairs from UCOC Core General Education Assessment, 2021-2022

, 2022
The Letter to Chairs from UCOC for Element 5 - Social Science as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +1 more source

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies [PDF]

The American Journal of Human Genetics, 2006
Epigenetic regulation of gene expression is a source of genetic variation, which can mimic recessive mutations by creating transcriptional haploinsufficiency. Germline epimutations and genomic imprinting are typical examples, although their existence can be difficult to reveal.
Zhou, Haiyan, Brockington, Martin, Jungbluth, Heinz, Monk, David, Stanier, Philip, Sewry, Caroline A., Moore, Gudrun E., Muntoni, Francesco   +7 more
openaire   +3 more sources

Immune Complexes Shape the Pathogenicity of Autoantibodies in Systemic Autoimmune Diseases: Insights From an FcγRIIIA‐Reporter Assay

Arthritis &Rheumatology, EarlyView.
Objective Immune complexes (ICs), formed by autoantigen and autoantibody, play a pathogenic role in systemic autoimmune diseases through stimulation of Fcγ receptors (FcγR). However, studies investigating bioactivity of circulating ICs across various diseases remain limited.
Koji Suzuki, Masaru Takeshita, Yuki Imai, Hiroyuki Fukui, Kazunori Furuhashi, Kotaro Matsumoto, Jun Kikuchi, Keiko Yoshimoto, Yuko Kaneko   +8 more
wiley   +1 more source

Element 4 Assessment Plan with Final Report Template Core General Education Assessment, 2023-2024

, 2023
The Assessment Plan with Final Report Template for Element 4 - Arts/Humanities as part of the institution’s ongoing general education Core assessment ...
Undergraduate Core Oversight Committee, Wright State University
core   +1 more source

Expert Perspective: Toward Treat‐to‐Target Management in Adult Idiopathic Inflammatory Myopathies

Arthritis &Rheumatology, Accepted Article.
Treat‐to‐target (T2T) has transformed the management of several rheumatic diseases through predefined therapeutic goals, structured disease assessment, and timely treatment adjustment. Despite major advances in the understanding and treatment of idiopathic inflammatory myopathies (IIM), a formal T2T framework for adult IIM has not yet been established.
Shiri Keret, Nantakarn Pongtarakulpanit, Rohit Aggarwal   +2 more
wiley   +1 more source