Results 291 to 300 of about 221,211 (337)

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

open access: yesPediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo   +18 more
wiley   +1 more source

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto   +2 more
wiley   +1 more source

A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy. [PDF]

open access: yesBMC Med Genomics
Nejati P   +6 more
europepmc   +1 more source

Hippocampal Extracellular Matrix Protein Laminin β1 Regulates Neuropathic Pain and Pain-Related Cognitive Impairment

open access: green
Yingchun Li   +15 more
openalex   +2 more sources

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling   +6 more
wiley   +1 more source

A 12-Week Strength Training Improves Mitochondrial Respiration, H<sub>2</sub>O<sub>2</sub> Emission and Skeletal Muscle Integrity in Women With Myotonic Dystrophy Type 1. [PDF]

open access: yesActa Physiol (Oxf)
Marcangeli V   +13 more
europepmc   +1 more source

Structural Modeling and Dynamics of the Full‐Length Homer1 Multimer

open access: yesProteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT Homer proteins are modular scaffold molecules that constitute an integral part of the protein network within the postsynaptic density. Full‐length Homer1 forms a large homotetramer via a long coiled coil region, and can interact with proline‐rich target sequences with its globular EVH1 domain.
Zsófia E. Kálmán   +9 more
wiley   +1 more source

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