Results 91 to 100 of about 745 (121)

Genetic Diagnosis and Individualized Intervention Through Next-generation Sequencing in Pre-symptomatic, Atypical, or Mildly Symptomatic Cases

Tokyo Women's Medical University Journal
Background: Conventional diagnoses of neuromuscular disorders (NMD) are insufficient for patients with absent or atypical symptoms. However, genetic diagnosis provides individualized insights for treatment and management.
Kaori Aibara, Yuri Kitamura, Reiko Arakawa, Eri Kondo, Shinichi Hosokawa, Saeko Yoshizawa, Atsuko Nishikawa, Ichizo Nishino, Mitsumasa Fukuda, Eiichi Ishii, Mariko Eguchi, Kayoko Saito   +11 more
doaj   +1 more source

Mechanism of actin thin filament pointed-end elongation by leiomodin

Nature Communications
In non-muscle cells, actin filaments exhibit variable lengths and rapid turnover, with subunits adding primarily at the barbed end. The situation is strikingly different in striated muscle sarcomeres, where despite rapid turnover, actin thin filaments ...
Shayna B. Brotzman, Nicholas J. Palmer, Malgorzata Boczkowska, Roberto Dominguez   +3 more
doaj   +1 more source

Coordinated Bone–Muscle Axis Association in South China Carp (Cyprinus carpio rubrofuscus) with Low Bone Mineral Density: An Integrated Analysis of Muscle Texture, Nutrition, Ultrastructure, and Proteomics

Foods
South China carp (Cyprinus carpio rubrofuscus) with low bone mineral density (BMD), characterized by softened bones and wavy ribs, were identified during paddy field aquaculture.
Kangdi Zhao, Zaixuan Zhong, Jiajia Fan, Yuanyuan Tian, Jun Shi, Dongmei Ma, Huaping Zhu   +6 more
doaj   +1 more source

Nanomechanics of Full-Length Nebulin: An Elastic Strain Gauge in the Skeletal Muscle Sarcomere

, 2016
Nebulin, a family of giant modular proteins (MW 700−800 kDa), acts as a F-actin thin filament ruler and calcium-linked regulator of actomyosin interaction.
Vamsi K. Yadavalli (1727779), Kuan Wang (571816), Jeffrey G. Forbes (2365120)   +2 more
core   +1 more source

The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments

, 2011
Desmin intermediate filaments intimately surround myofibrils in vertebrate muscle forming a mesh-like filament network. Desmin attaches to sarcomeres through its high-affinity association with nebulin, a giant F-actin binding protein that co-extends ...
Gloria M. Conover, Carol C. Gregorio
core   +1 more source

A Circular RNA Generated from Nebulin (NEB) Gene Splicing Promotes Skeletal Muscle Myogenesis in Cattle as Detected by a Multi‐Omics Approach

Advanced Science
Cattle and the draught force provided by its skeletal muscle have been integral to agro‐ecosystems of agricultural civilization for millennia. However, relatively little is known about the cattle muscle functional genomics (including protein coding genes,
Kongwei Huang, Zhipeng Li, Dandan Zhong, Yufeng Yang, Xiuying Yan, Tong Feng, Xiaobo Wang, Liyin Zhang, Xinyue Shen, Mengjie Chen, Xier Luo, Kuiqing Cui, Jieping Huang, Saif Ur Rehman, Yu Jiang, Deshun Shi, Alfredo Pauciullo, Xiangfang Tang, Qingyou Liu, Hui Li   +19 more
doaj   +1 more source

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

, 2013
Background: Nemaline myopathy-the most common non-dystrophic congenital myopathy-is caused by mutations in thin filament genes, of which the nebulin gene is the most frequently affected one.
Malik, F.I., Stienen, G.J.M., Jasper, J.R., Lawlor, M.W., Beggs, A.H., Granzier, H., de Winter, J.M., Hidalgo, C., Clarke, N.F., Buck, D., Ottenheijm, C.A.C.   +10 more
core   +1 more source

The role of titin and nebulin in myofibril assembly in cultured embryonic chick muscle cells

, 1988
The purpose of this study was to examine the role of the two high molecular weight proteins, titin and nebulin, in skeletal muscle myofibrillogenesis.
Kurpakus, Michelle
core   +1 more source

The application of quantitative SDS-PAGE method for measurement of extracellular recombinant scFv anti-p17 in crude protein

Journal of Associated Medical Sciences, 2013
The quantitative determination of recombinant protein in crude protein is not commonly used because the protein is not in purified form. The Sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) was developed for quantitative determination
Kannaporn Intachai, Chanyanuch Putim, Watchara Kasinrerk, Chatchai Tayapiwatana, Bordin Butr-Indr   +4 more
doaj  

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy

, 1997
A locus for autosomal recessive nemaline myopathy (NEM2) has been assigned by linkage analysis to a 13-cM region between the markers D2S150 and D2S142 on 2q21.2-q22.
Millevoi, S., Laing, N., de la Chapelle, A., Pelin, K., Kolmerer, B., Labeit, S., Ridanpää, M., Krishnarajah, J., Wilton, S., Donner, K., Wallgren-Pettersson, C.   +10 more
core