Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

scientific article published on 04 April 2009

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDP168
P932PMC publication ID2694687
P698PubMed publication ID19346529
P5875ResearchGate publication ID24257874

P50authorAlan H. BeggsQ37368773
Ger StienenQ42651829
H.L. GranzierQ67484897
Coen A C OttenheijmQ99586007
P2093author name stringChristian C Witt
Siegfried Labeit
P2860cites workNebulin regulates thin filament length, contractility, and Z-disk structure in vivoQ24299585
The complete primary structure of human nebulin and its correlation to muscle structureQ24316629
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2Q24329180
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline MyopathyQ24517937
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathyQ24649442
Nebulin-deficient mice exhibit shorter thin filament lengths and reduced contractile function in skeletal muscleQ24683625
Cellular motility driven by assembly and disassembly of actin filamentsQ27860676
Evidence that nebulin is a protein-ruler in muscle thin filamentsQ28278748
Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.Q30168391
Human skeletal muscle nebulin sequence encodes a blueprint for thin filament architecture. Sequence motifs and affinity profiles of tandem repeats and terminal SH3.Q30177042
Length-tension relationship of the external anal sphincter muscle: implications for the anal canal functionQ30844830
Clinical course correlates poorly with muscle pathology in nemaline myopathy.Q34179278
Proposed mechanism of force generation in striated muscleQ34223986
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filamentsQ34343417
Architecture of the sarcomere matrix of skeletal muscle: immunoelectron microscopic evidence that suggests a set of parallel inextensible nebulin filaments anchored at the Z lineQ36220922
Interplay between passive tension and strong and weak binding cross-bridges in insect indirect flight muscle. A functional dissection by gelsolin-mediated thin filament removalQ36411329
Sarcoplasmic reticulum calcium uptake and speed of relaxation are depressed in nebulin-free skeletal muscleQ36804918
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrenceQ37269366
Thin filament length regulation in striated muscle sarcomeres: pointed-end dynamics go beyond a nebulin rulerQ37269778
The three-dimensional structure of the nemaline rod Z-bandQ42626785
I segment lengths and thin filament periods in skeletal muscle fibers of the Rhesus monkey and the humanQ44203877
Hypoxia-induced skeletal muscle fiber dysfunction: role for reactive nitrogen speciesQ46661224
Relationship between muscle fiber types and sizes and muscle architectural properties in the mouse hindlimbQ46864051
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin geneQ47280361
The complete mouse nebulin gene sequence and the identification of cardiac nebulinQ47935591
Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.Q52088534
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathyQ58185608
Nebulin expression in patients with nemaline myopathyQ58185622
Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset formsQ69596189
Coordinate changes in C protein and myosin expression during skeletal muscle hypertrophyQ72158525
Quadriceps weakness in a family with nemaline myopathy: influence of knee angleQ73630594
P4510describes a project that usesImageJQ1659584
P433issue13
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
muscle weaknessQ270421
nemaline myopathyQ1507379
P304page(s)2359-2369
P577publication date2009-04-04
P1433published inHuman Molecular GeneticsQ2720965
P1476titleThin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency
P478volume18

Reverse relations

cites work (P2860)
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