Results 61 to 70 of about 520 (132)
Scandinavian Journal of Medicine &Science in Sports, Volume 34, Issue 10, October 2024.ABSTRACT Skeletal muscle mass plays a pivotal role in metabolic function, but conditions such as bed rest or injury often render resistance training impractical. The beta2‐adrenergic receptor has been highlighted as a potential target to promote muscle hypertrophy and treat atrophic conditions. Here, we investigate the proteomic changes associated with
Søren Jessen +8 more
wiley +1 more source
Definitions, 2020 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal.
semanticscholar +1 more source
Advanced Science, Volume 11, Issue 5, February 2, 2024.This study examines the aging features of the muscle‐bone unit at a single‐cell level. Immune cells are found to play a crucial role in orchestrating the synchronized aging of muscles and bones. The findings advance the understanding of synchronized musculoskeletal aging and lay the molecular and cellular foundation for further basic and translational ...
Pengbin Yin +15 more
wiley +1 more source
Discovery of New Regulatory Proteins and Mechanisms in Muscle Biology and Disease [PDF]
, 2016 In an effort to discover new regulators of muscle function, we identified a novel muscle-specific protein, Klhl40. Genetic deletion of Klhl40 in mice results in a nemaline myopathy-like phenotype with disruption of sarcomere function causing neonatal ...
Garg, Ankit
core +1 more source
Mutation-specific effects on thin filament length in thin filament myopathy [PDF]
, 2016 OBJECTIVE: Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament.
Voermans, N.C. +22 more
core +1 more source
Developing clinical mouse models with KLHL40 deficiency [PDF]
2024Nemaline Myopathies greatly impact the life of all patients who endure this disease. The symptoms of nemaline myopathy range greatly depending on the specific gene affected, affecting lives of some more than others.
McNulty, Joanna
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Congenital Myopathies are a Group of Phenotypically and Genetically Heterogeneous Diseases [PDF]
, 2016 Congenital myopathies are a group of childhood-onset neuromuscular disorder diagnosed by specific clinical, pathological, and genetic features. With the phenotypic, genotypic, and pathological heterogeneity of these specific conditions, diagnostic ...
Ng, G +15 more
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Gene discovery and mechanism of disease in the myopathies [PDF]
, 2018 Congenital myopathy and muscular dystrophy are two groups of inherited muscle diseases characterised by muscle weakness, and sub-classified by hallmark pathological features within a skeletal muscle biopsy.
Best, Heather Annette
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Journal of Biological Chemistry, 2015 Background: Kbtbd5 is involved in skeletal muscle myogenesis, although the underlying mechanism is unclear. Results: Kbtbd5 interacts with DP1 and regulates the activity of E2F1-DP1 in skeletal muscle myogenesis.
W. Gong +5 more
semanticscholar +1 more source
The KLHL40C.1516A>C is a Chinese-specific founder mutation in causing nemaline myopathy 8 [PDF]
, 2019 Background: Autosomal recessive or compound heterozygous mutation in KLHL40 is one of the causes of severe nemaline myopathy (nemaline myopathy 8, phenotype MIM number 615348). This severe form of nemaline myopathy is characterized by congenital fetal
Yu, YN +13 more
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