Results 91 to 100 of about 4,206 (207)

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers [PDF]

, 2017
Background: Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described in several breeds of dogs, but the
Campbell, Kevin P., Clark, Leigh Anne, Cox, Melissa L., Davis, Alexander G., Evans, Jacquelyn M., Guo, Ling T., Hytonen, Marjo K., Levy, Jennifer R., Lohi, Hannes, Salmela, Elina, Shelton, G. Diane, Starr-Moss, Alison N.   +11 more
core   +1 more source

Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation

FEBS Letters, Volume 599, Issue 17, Page 2449-2462, September 2025.
The β‐actin G74S mutation causes altered interaction of actin with SETD3, reducing histidine‐73 methylation efficiency and forming two distinct actin variants. The variable ratio of these variants across cell types and developmental stages contributes to tissue‐specific phenotypical changes. This imbalance may impair actin dynamics and mechanosensitive
Anja Marquardt, Marcus S. Münchhoff, Jacqueline Krohn, Philip M. Palarz, Manuel H. Taft, Johannes N. Greve, Nataliya Di Donato, Falk F. R. Buettner, Dietmar J. Manstein   +8 more
wiley   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, Volume 108, Issue 3, Page 266-278, September 2025.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination

eLife, 2017
Maintenance of muscle function requires assembly of contractile proteins into highly organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline myopathy, a fatal muscle disorder associated with sarcomere disarray.
Andres Ramirez-Martinez, Bercin Kutluk Cenik, Svetlana Bezprozvannaya, Beibei Chen, Rhonda Bassel-Duby, Ning Liu, Eric N Olson   +6 more
doaj   +1 more source

Study of actin mutations linked to muscle disease

, 2008
Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
core  

Congenital muscular dystrophy: from muscle to brain. [PDF]

, 2016
Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M, Vitaliti G   +7 more
core   +1 more source

A case of acute hypercapnic respiratory failure secondary to late onset nemaline rod myopathy: A multi-disciplinary approach

Respiratory Medicine Case Reports
Background: Nemaline rod myopathy (NRM) is a rare muscle disorder defined by muscle weakness, respiratory insufficiency, and dysphagia. Respiratory muscle involvement can lead to acute hypercapnic respiratory failure, posing significant challenges in ...
Chandana Madala, Srilakshmi Giridharan, Dr Anthony Vacchio   +2 more
doaj   +1 more source

Rheumatic conditions in human immunodeficiency virus infection [PDF]

, 2017
Many rheumatic diseases have been observed in HIV-infected persons. We, therefore, conducted a comprehensive literature search in order to review the prevalence, presentation and pathogenesis of rheumatic manifestations in HIV-infected subjects ...
Daikeler, T., Tyndall, A., Walker, U. A.
core  

Molecular classification of nemaline myopathies: “nontyping” specimens exhibit unique patterns of gene expression

Neurobiology of Disease, 2004
Nemaline myopathy (NM) is a slowly progressive or nonprogressive neuromuscular disorder caused by mutations in genes encoding skeletal muscle sarcomeric thin filament proteins. It is characterized by great heterogeneity at the clinical, histopathological,
Despina Sanoudou, Leslie A. Frieden, Judith N. Haslett, Alvin T. Kho, Steven A. Greenberg, Isaac S. Kohane, Louis M. Kunkel, Alan H. Beggs   +7 more
doaj   +1 more source

Failure to identify modifiers of NEBULIN-related nemaline myopathy in two pre-clinical models of the disease

Biology Open, 2019
Nemaline myopathy is a rare neuromuscular disorder that affects 1 in 50,000 live births, with prevalence as high as 1 in 20,000 in certain populations.
Boyang Qiu, Julie Ruston, Henk Granzier, Monica J. Justice, James J. Dowling   +4 more
doaj   +1 more source