Published in Hum Mol Genet on July 28, 2006
BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress. Circ Res (2010) 1.41
Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle. Mol Cell Biol (2009) 0.97
Loss of Par-1a/MARK3/C-TAK1 kinase leads to reduced adiposity, resistance to hepatic steatosis, and defective gluconeogenesis. Mol Cell Biol (2010) 0.93
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain (2014) 0.86
Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. J Biol Chem (2008) 0.81
Cardiomyocyte-Specific Human Bcl2-Associated Anthanogene 3 P209L Expression Induces Mitochondrial Fragmentation, Bcl2-Associated Anthanogene 3 Haploinsufficiency, and Activates p38 Signaling. Am J Pathol (2016) 0.79
Drosophila melanogaster muscle LIM protein and alpha-actinin function together to stabilize muscle cytoarchitecture: a potential role for Mlp84B in actin-crosslinking. Cytoskeleton (Hoboken) (2013) 0.78
Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy. PLoS One (2014) 0.77
Muscle Lim Protein (MLP)/CSRP3 at the crossroad between mechanotransduction and autophagy. Cell Death Dis (2015) 0.77
Differential expression of lipid and carbohydrate metabolism genes in upper airway versus diaphragm muscle. Sleep (2010) 0.76
Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation. FEBS J (2014) 0.76
Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes. BMC Res Notes (2009) 0.75
Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci U S A (2001) 132.88
Correlation of terminal cell cycle arrest of skeletal muscle with induction of p21 by MyoD. Science (1995) 7.25
The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell (2002) 4.72
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology. J Cell Biol (2000) 3.34
Acetylation of MyoD directed by PCAF is necessary for the execution of the muscle program. Mol Cell (1999) 3.30
Myf-6, a new member of the human gene family of myogenic determination factors: evidence for a gene cluster on chromosome 12. EMBO J (1990) 3.16
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature (1996) 2.95
Mena is required for neurulation and commissure formation. Neuron (1999) 2.94
A chronic inflammatory response dominates the skeletal muscle molecular signature in dystrophin-deficient mdx mice. Hum Mol Genet (2002) 2.80
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A (2002) 2.60
A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet (1995) 2.57
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet (2003) 2.50
Muscle LIM protein, a novel essential regulator of myogenesis, promotes myogenic differentiation. Cell (1994) 2.44
Molecular profiles of inflammatory myopathies. Neurology (2002) 2.21
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet (1997) 1.97
Expression of myogenin during embryogenesis is controlled by Six/sine oculis homeoproteins through a conserved MEF3 binding site. Proc Natl Acad Sci U S A (1998) 1.91
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. Trends Mol Med (2001) 1.76
Muscle LIM protein promotes myogenesis by enhancing the activity of MyoD. Mol Cell Biol (1997) 1.66
The essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulation. Proc Natl Acad Sci U S A (2002) 1.64
The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. J Mol Biol (2004) 1.38
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A (2003) 1.29
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy. Neurology (2002) 1.24
The CRP/MLP/TLP family of LIM domain proteins: acting by connecting. Bioessays (2003) 1.24
Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling. J Mol Biol (2004) 1.15
Temporal gene expression profiling of dystrophin-deficient (mdx) mouse diaphragm identifies conserved and muscle group-specific mechanisms in the pathogenesis of muscular dystrophy. Hum Mol Genet (2003) 1.09
A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy. Hum Mol Genet (2001) 1.09
Variations in gene expression among different types of human skeletal muscle. Muscle Nerve (2005) 1.07
Characterization of human skeletal muscle Ankrd2. Biochem Biophys Res Commun (2001) 1.04
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice. Neuromuscul Disord (2005) 1.01
The influence of muscle type and dystrophin deficiency on murine expression profiles. Mamm Genome (2005) 1.00
Global/temporal gene expression in diaphragm and hindlimb muscles of dystrophin-deficient (mdx) mice. Am J Physiol Cell Physiol (2002) 0.99
Downregulation and nuclear relocation of MLP during the progression of right ventricular hypertrophy induced by chronic pressure overload. J Mol Cell Cardiol (2000) 0.99
Conserved and muscle-group-specific gene expression patterns shape postnatal development of the novel extraocular muscle phenotype. Physiol Genomics (2004) 0.95
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol (2005) 0.91
Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism. Hum Mol Genet (2004) 0.91
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. Neuromuscul Disord (2002) 0.86
Identification, distribution, and myosin subunit composition of type IIX fibers in mouse muscles. Muscle Nerve (1994) 0.86
Altered expression of ARPP protein in skeletal muscles of patients with muscular dystrophy, congenital myopathy and spinal muscular atrophy. Pathobiology (2004) 0.84
Molecular classification of nemaline myopathies: "nontyping" specimens exhibit unique patterns of gene expression. Neurobiol Dis (2004) 0.77
Multiple serotonergic brainstem abnormalities in sudden infant death syndrome. JAMA (2006) 5.10
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science (2002) 4.40
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A (2005) 4.14
Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A (2007) 3.72
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet (2008) 3.29
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet (2006) 3.17
ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet (2003) 3.12
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood (2008) 3.05
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet (2007) 2.96
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. Mol Cell (2011) 2.73
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. Proc Natl Acad Sci U S A (2002) 2.60
Tropomyosin isoforms: divining rods for actin cytoskeleton function. Trends Cell Biol (2005) 2.45
Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. J Clin Oncol (2011) 2.38
Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet (2005) 2.33
Influence of the period-dependent circadian clock on diurnal, circadian, and aperiodic gene expression in Drosophila melanogaster. Proc Natl Acad Sci U S A (2002) 2.33
Expression profiling and identification of novel genes involved in myogenic differentiation. FASEB J (2003) 2.30
Reproducibility of gene expression across generations of Affymetrix microarrays. BMC Bioinformatics (2003) 2.20
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest (2012) 2.15
Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet (2013) 2.10
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology (2013) 2.09
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update. Hum Mutat (2010) 2.03
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (2012) 1.91
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 1.83
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol (2004) 1.76
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet (2006) 1.73
Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency. Hum Mol Genet (2009) 1.73
Type I interferon-inducible gene expression in blood is present and reflects disease activity in dermatomyositis and polymyositis. Arthritis Rheum (2007) 1.72
The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. Neuromuscul Disord (2009) 1.70
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia. Hum Mutat (2012) 1.64
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet (2008) 1.62
X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol (2005) 1.61
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet (2012) 1.60
Toll-like receptor 6 drives differentiation of tolerogenic dendritic cells and contributes to LcrV-mediated plague pathogenesis. Cell Host Microbe (2008) 1.59
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat (2009) 1.54
Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscul Disord (2004) 1.52
Specification of actin filament function and molecular composition by tropomyosin isoforms. Mol Biol Cell (2003) 1.51
Four and a half LIM protein 1 binds myosin-binding protein C and regulates myosin filament formation and sarcomere assembly. J Biol Chem (2006) 1.50
Nuclear actin and actin-binding proteins in the regulation of transcription and gene expression. FEBS J (2009) 1.49
Large-scale analysis of KIT aberrations in Chinese patients with melanoma. Clin Cancer Res (2011) 1.47
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet (2013) 1.46
Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia. Stem Cells (2006) 1.46
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet (2008) 1.44
HIV-1 incidence estimates using IgG-capture BED-enzyme immunoassay from surveillance sites of injection drug users in three cities of China. AIDS (2007) 1.43
Knowledge, attitudes, perceived vulnerability of Chinese nurses and their preferences for caring for HIV-positive individuals: a cross-sectional survey. J Clin Nurs (2010) 1.42
miR-146a and Krüppel-like factor 4 form a feedback loop to participate in vascular smooth muscle cell proliferation. EMBO Rep (2010) 1.39
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet (2013) 1.39
Study on changes of clinical indicators and key proteins from fluoride exposure. Biol Trace Elem Res (2014) 1.38
Nurses' knowledge, attitudes, and practice related to HIV transmission in northeastern China. AIDS Patient Care STDS (2004) 1.32
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy. Sci Transl Med (2014) 1.32
The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies. Hum Mol Genet (2011) 1.30
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A (2003) 1.29
Dynamin-related protein 1 (Drp1)-mediated diastolic dysfunction in myocardial ischemia-reperfusion injury: therapeutic benefits of Drp1 inhibition to reduce mitochondrial fission. FASEB J (2013) 1.28
Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc Natl Acad Sci U S A (2005) 1.28
Clinical presentation, histology, and prognoses of malignant melanoma in ethnic Chinese: a study of 522 consecutive cases. BMC Cancer (2011) 1.28
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat (2012) 1.25
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest (2014) 1.24
Kruppel-like factor 4 is required for the expression of vascular smooth muscle cell differentiation marker genes induced by all-trans retinoic acid. J Biochem (2008) 1.23
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord (2003) 1.23
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest (2010) 1.21
Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy. J Cell Biol (2008) 1.21
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20
Altered myofilament function depresses force generation in patients with nebulin-based nemaline myopathy (NEM2). J Struct Biol (2009) 1.20
Gene expression profiling of Duchenne muscular dystrophy skeletal muscle. Neurogenetics (2003) 1.18
New evidence for the involvement of spinal fractalkine receptor in pain facilitation and spinal glial activation in rat model of monoarthritis. Pain (2006) 1.17
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet (2012) 1.17
Clinical research evidence of cupping therapy in China: a systematic literature review. BMC Complement Altern Med (2010) 1.17
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. Hum Mol Genet (2011) 1.16
Selenoproteins and their impact on human health through diverse physiological pathways. Physiology (Bethesda) (2006) 1.13
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol (2004) 1.13
Differential expression of dopamine D2 and D4 receptor and tyrosine hydroxylase mRNA in mice prone, or resistant, to chronic high-fat diet-induced obesity. Brain Res Mol Brain Res (2005) 1.10
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet (2012) 1.09
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet (2013) 1.09
Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development. Gene Expr Patterns (2006) 1.08
Follistatin-like 1 suppresses sensory afferent transmission by activating Na+,K+-ATPase. Neuron (2011) 1.08
Variations in gene expression among different types of human skeletal muscle. Muscle Nerve (2005) 1.07
Livin/ML-IAP as a new target for cancer treatment. Cancer Lett (2007) 1.06
Krüppel-like factor 4 promotes differentiation by transforming growth factor-beta receptor-mediated Smad and p38 MAPK signaling in vascular smooth muscle cells. J Biol Chem (2010) 1.06
Mutation update: the spectra of nebulin variants and associated myopathies. Hum Mutat (2014) 1.06
Altered levels of POMC, AgRP and MC4-R mRNA expression in the hypothalamus and other parts of the limbic system of mice prone or resistant to chronic high-energy diet-induced obesity. Brain Res (2003) 1.06
PGC1α-mediated mitofusin-2 deficiency in female rats and humans with pulmonary arterial hypertension. Am J Respir Crit Care Med (2013) 1.06
Chinese herbal formula xiao yao san for treatment of depression: a systematic review of randomized controlled trials. Evid Based Complement Alternat Med (2011) 1.06
Ap-let neurons--a peptidergic circuit potentially controlling ecdysial behavior in Drosophila. Dev Biol (2004) 1.05
Disulfide connectivity of human immunoglobulin G2 structural isoforms. Biochemistry (2008) 1.05
Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet (2012) 1.04
Muscle function in a canine model of X-linked myotubular myopathy. Muscle Nerve (2012) 1.04
Sorting of a nonmuscle tropomyosin to a novel cytoskeletal compartment in skeletal muscle results in muscular dystrophy. J Cell Biol (2004) 1.03
Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord (2007) 1.03
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. Hum Mol Genet (2011) 1.03
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice. Am J Pathol (2011) 1.03
Therapeutic hypothermia cardioprotection via Akt- and nitric oxide-mediated attenuation of mitochondrial oxidants. Am J Physiol Heart Circ Physiol (2010) 1.03
Analysis of post-translational modifications in recombinant monoclonal antibody IgG1 by reversed-phase liquid chromatography/mass spectrometry. J Chromatogr A (2007) 1.02
MICA allele-level typing by sequence-based typing with computerized assignment of polymorphic sites and short tandem repeats within the transmembrane region. Hum Immunol (2006) 1.02
Mechanisms underlying intranuclear rod formation. Brain (2007) 1.01