Results 211 to 220 of about 5,338 (235)

Structure of the amphioxus nebulin gene and evolution of the nebulin family genes

Gene, 2009
Nebulin family genes are believed to have diverged from a single gene during the evolution of vertebrates. We determined the structure of the amphioxus nebulin gene and showed that in addition to the features of the human nebulin gene, this gene had a LIM domain, secondary super repeats and a giant exon with 98 nebulin repeats containing unique ...
Akira, Hanashima, Kaoru, Kubokawa, Sumiko, Kimura   +2 more
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Nebulin—A Giant Chameleon

2008
Nebulin is an enormous protein of the muscle sarcomere. It is a determinant of thin filament length, Z-disk structure and fiber contractility. The nebulin gene contains four regions of alternative splicing, providing a wealth of different isoforms of the protein.
Katarina, Pelin, Carina, Wallgren-Pettersson   +1 more
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Identification of chicken nebulin isoforms of the 31-residue motifs and non-muscle nebulin

Biochemical and Biophysical Research Communications, 2004
Nebulin is a very large (M(r) 600-900kDa) actin-binding protein that is specific to skeletal muscle, and which is thought to act as a molecular template that regulates the length of sarcomere thin filaments. The 31-residue motif of nebulin contains a unique PEhXRVKXNQ consensus sequence. We have previously identified 11 different human nebulin isoforms
Young-Mi, Joo, Min-A, Lee, Yeong-Mi, Lee, Myong-Shin, Kim, So-Young, Kim, Eun-Hee, Jeon, Jae-Kyoung, Choi, Wang-Hee, Kim, Ho-Chan, Lee, Byung-In, Min, Ho-Sung, Kang, Chong-Rak, Kim   +11 more
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Nebulin is normally expressed in nemaline myopathy

Acta Neuropathologica, 1999
Since the nebulin gene is located in the candidate gene locus of autosomal recessive nemaline myopathy, 2q21.2-q22, we examined five muscle biopsy specimens with monoclonal and polyclonal antibodies against nebulin in combination with the modified Gomori trichrome stain. We were able to demonstrate immunohistochemically that there was no abnormality in
C, Imoto, S, Kimura, M, Kawai, I, Nonaka
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Dystrophin and nebulin in the muscular dystrophies

Journal of the Neurological Sciences, 1988
Skeletal muscle from patients with 5 different forms of muscular dystrophy and from 6 fetuses at high risk (95%) for Duchenne muscular dystrophy (DMD) were probed with specific antibodies for the presence of dystrophin and nebulin. Dystrophin was absent in all 5 patients with DMD and 4 of 6 fetuses at high risk for DMD and present in trace amounts in ...
K, Patel, T, Voit, M J, Dunn, P N, Strong, V, Dubowitz   +4 more
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Nebulin expression in patients with nemaline myopathy

Neuromuscular Disorders, 2001
Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha-tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at
Gurgel-Giannetti, J., Reed, U., Bang, M. L., Pelin, K., Donner, K., Marie, S. K., Carvalho, M., Fireman, MAT, Zanoteli, E., Oliveira, ASB, Zatz, M., Wallgren-Pettersson, C., Labeit, S., Vainzof, M.   +13 more
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Molecular Contacts between Nebulin and Actin:  Cross-Linking of Nebulin Modules to the N-Terminus of Actin

Biochemistry, 1997
Nebulin, a giant actin binding protein, coextends with actin and is thought to form a composite thin filament in the skeletal muscle sarcomere. To understand the molecular interactions between nebulin and actin, we have applied chemical cross-linking techniques to define molecular contacts between actin and ND8, a two-module nebulin fragment that ...
C L, Shih, M J, Chen, K, Linse, K, Wang
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Nebulin

1999
Abstract Nebulette is a petite nebulin isoform at the Z line region of cardiac myofibril in cardiac muscle. This 107 kDa protein consists of 22 nebulin modules bracketed by a unique N-terminal domain and C-terminal Src homology (SH3) domain. It bears a striking resemblance to the C-terminal region of skeletal muscle nebulin.
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Structure and function of titin and nebulin

Current Opinion in Cell Biology, 1995
Recent investigations of titin anchorage and elasticity have been supplemented with in vitro expression studies on isolated domains of titin and nebulin. These have yielded new insights into the molecular basis of the functions of these proteins in muscle.
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Immunocytochemical study of nebulin in Duchenne muscular dystrophy

Neurology, 1988
We used antibodies to nebulin in immunocytochemical studies. In normal muscle, nebulin was localized at the I band. The protein was also present in most fibers from all 15 Duchenne muscular dystrophy (DMD) patients studied, including patients who seemed to lack nebulin in electrophoretic gels and patients who demonstrated deletions of DNA in the region
Bonilla E, Miranda AF, Prelle A, Salviati G, Betto R, Zeviani M, Schon EA, Di Mauro S, Rowland LP   +8 more
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