Results 41 to 50 of about 745 (121)

Prenatal Diagnosis and Functional Analysis of Two Compound Heterozygous Variants in the KLHL40 Gene Causing Nemaline Myopathy 8

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This finding may broaden the pathogenic variant of c.1327G> A in the KLHL40 gene causing NEM8 and clarify the genotype and phenotype correlation. ABSTRACT Background Nemaline myopathy (NEM) is a rare congenital muscular disorder characterized by slow progression or static neuromuscular symptoms, which is mainly caused by variants in genes encoding the ...
Jianlong Zhuang, Meiling Hong, Qiumei Huang, Yuying Jiang, Junyu Wang   +4 more
wiley   +1 more source

Structural and functional roles of nebulin in skeletal muscle [PDF]

, 2009
Skeletal muscles generate force through crossbridge interactions between actin thin filaments and myosin thick filaments within sarcomeres, which are, in turn, organized into a myofibrillar lattice in muscle fibers.
Gokhin, David Samuel
core  

Roles of Nebulin Family Members in the Heart

, 2015
The members of the nebulin protein family, including nebulin, nebulette, LASP-1, LASP-2, and N-RAP, contain various numbers of nebulin repeats and bind to actin, but are otherwise heterogeneous with regard to size, expression pattern, and function.
Bang, Marie-Louise, Chen, Ju
core   +1 more source

Correction to: Expressing a Z-disk nebulin fragment innebulin-deficient mouse muscle: effects on muscle structure and function

Skeletal Muscle, 2020
Following the publication of this paper [1], it was brought to the authors’ attention that one of the contributing authors was left off of the paper. The authors apologize for the unfortunate oversight.
Frank Li, Justin Kolb, Julie Crudele, Paola Tonino, Zaynab Hourani, John E. Smith, Jeffrey S. Chamberlain, Henk Granzier   +7 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Elucidation of Architectural and Compositional Factors Associated With Inter‐Individual Variability in Passive Shear Modulus of the Human Vastus Lateralis in Young Healthy Males

Scandinavian Journal of Medicine &Science in Sports, Volume 36, Issue 7, July 2026.
ABSTRACT Human skeletal muscle exhibits substantial inter‐individual heterogeneity in passive mechanical properties; however, the mechanistic basis underlying this variability remains poorly understood. We aimed to comprehensively examine how compositional and architectural factors are associated with individual variability in passive shear modulus of ...
Raki Kawama, Yuki Okuda, Satoshi Mikata, Kippei Sato, Katsuki Takahashi, Freek Van de Casteele, Eline Lievens, Wim Derave, Taku Wakahara   +8 more
wiley   +1 more source

Omecamtiv mecarbil lowers the contractile deficit in a mouse model of nebulin-based nemaline myopathy.

PLoS ONE, 2019
Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. NEM is characterized by muscle weakness for which currently no treatments exist.
Johan Lindqvist, Eun-Jeong Lee, Esmat Karimi, Justin Kolb, Henk Granzier   +4 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

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Clinical Case Reports, 2020
In a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.
Nuno Maia, Ana Rita Soares, Ana Maria Fortuna, Isabel Marques, Ana Gonçalves, Rosário Santos, Manuel Melo Pires, Arjan P. M. de Brouwer, Paula Jorge   +8 more
doaj   +1 more source

2H2O labeling methods for bulk and single muscle protein synthesis measures, and measures of integrated muscle protein synthesis and breakdown rates: A pilot study

Physiological Reports, Volume 14, Issue 13, July 2026.
Abstract This methodological pilot study explored the feasibility of an integrated tracer approach for simultaneous measurement of human skeletal muscle protein synthesis and breakdown during prolonged deuterium oxide (2H2O) labeling. Four healthy men completed a five‐week protocol combining daily oral 2H2O intake with selected stable isotope amino ...
Grith Højfeldt, Bjørk Wulff Helge, Gerrit van Hall, Peter Schjerling, Michael Kjær, Abigail L. Mackey, Jatin G. Burniston, Jakob Agergaard   +7 more
wiley   +1 more source