Published in J Mol Biol on February 09, 2007
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep (2012) 2.09
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res (2009) 1.13
Reduction of the rate of protein translation in patients with myotonic dystrophy 2. J Neurosci (2009) 1.13
Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms. Curr Genomics (2010) 1.07
Myotonic dystrophy mouse models: towards rational therapy development. Trends Mol Med (2011) 1.07
Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies. Acta Myol (2013) 1.01
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol (2010) 0.95
Molecular mechanisms of muscle atrophy in myotonic dystrophies. Int J Biochem Cell Biol (2013) 0.91
ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2. PLoS One (2010) 0.89
Altered expression and splicing of Ca(2+) metabolism genes in myotonic dystrophies DM1 and DM2. Neuropathol Appl Neurobiol (2013) 0.88
Identification of proteins binding coding and non-coding human RNAs using protein microarrays. BMC Genomics (2012) 0.88
Defining potentially conserved RNA regulons of homologous zinc-finger RNA-binding proteins. Genome Biol (2011) 0.84
ClC-1 chloride channels: state-of-the-art research and future challenges. Front Cell Neurosci (2015) 0.84
Chondrocyte-specific knockout of Cbfβ reveals the indispensable function of Cbfβ in chondrocyte maturation, growth plate development and trabecular bone formation in mice. Int J Biol Sci (2014) 0.83
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2. PLoS One (2013) 0.82
APP(DeltaNL695) expression in murine tissue downregulates CNBP expression. Neurosci Lett (2010) 0.82
Yeast Gis2 and its human ortholog CNBP are novel components of stress-induced RNP granules. PLoS One (2012) 0.81
Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene. Curr Genomics (2008) 0.80
Rare neurological channelopathies - networks to study patients, pathogenesis and treatment. Nat Rev Neurol (2016) 0.78
Muscle wasting in myotonic dystrophies: a model of premature aging. Front Aging Neurosci (2015) 0.77
Small molecules that target the toxic RNA in myotonic dystrophy type 2. ChemMedChem (2014) 0.77
RNA-binding protein misregulation in microsatellite expansion disorders. Adv Exp Med Biol (2014) 0.77
Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects. Neurol Sci (2017) 0.76
Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism. J Neuromuscul Dis (2015) 0.75
CNBP acts as a key transcriptional regulator of sustained expression of interleukin-6. Nucleic Acids Res (2017) 0.75
In vivo assessment of muscle membrane properties in myotonic dystrophy. Muscle Nerve (2016) 0.75
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
The kinase domain of titin controls muscle gene expression and protein turnover. Science (2005) 3.68
TGF-β and BMP signaling in osteoblast differentiation and bone formation. Int J Biol Sci (2012) 3.49
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain (2006) 3.16
Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain (2012) 3.02
B and T lymphocytes are the primary sources of RANKL in the bone resorptive lesion of periodontal disease. Am J Pathol (2006) 2.56
Late onset spinal motor neuronopathy is caused by mutation in CHCHD10. Ann Neurol (2014) 2.53
MicroRNA dynamics in the stages of tumorigenesis correlate with hallmark capabilities of cancer. Genes Dev (2009) 2.41
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet (2005) 2.23
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet (2002) 2.14
Retracted VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. Cell (2009) 2.11
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain (2012) 1.92
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies. J Cell Sci (2008) 1.84
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
Signaling and transcriptional regulation in osteoblast commitment and differentiation. Front Biosci (2007) 1.61
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet (2003) 1.59
Atrophic remodeling of the heart in vivo simultaneously activates pathways of protein synthesis and degradation. Circulation (2003) 1.56
Novel infectious cDNA clones of hepatitis C virus genotype 3a (strain S52) and 4a (strain ED43): genetic analyses and in vivo pathogenesis studies. J Virol (2010) 1.55
TNF-alpha regulates myogenesis and muscle regeneration by activating p38 MAPK. Am J Physiol Cell Physiol (2006) 1.55
Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry (2013) 1.52
Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain (2007) 1.46
Toll-like receptor 4 mediates lipopolysaccharide-induced muscle catabolism via coordinate activation of ubiquitin-proteasome and autophagy-lysosome pathways. FASEB J (2010) 1.46
RGS10-null mutation impairs osteoclast differentiation resulting from the loss of [Ca2+]i oscillation regulation. Genes Dev (2007) 1.42
Appendicectomy at a children's hospital: what has changed over a decade? ANZ J Surg (2012) 1.41
The Role of Physical Therapists in Living Environment Maintenance of the Home-bound Elderly Disabled. J Phys Ther Sci (2013) 1.37
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol (2013) 1.34
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. Eur J Hum Genet (2011) 1.33
Role of TNF-{alpha} signaling in regeneration of cardiotoxin-injured muscle. Am J Physiol Cell Physiol (2005) 1.24
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord (2008) 1.21
C/EBPβ mediates tumour-induced ubiquitin ligase atrogin1/MAFbx upregulation and muscle wasting. EMBO J (2011) 1.19
Proteasome inhibition improves diaphragm function in congestive heart failure rats. Am J Physiol Lung Cell Mol Physiol (2008) 1.19
Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence. Hum Mol Genet (2007) 1.17
Activation of sterol regulatory element-binding protein 1c and fatty acid synthase transcription by hepatitis C virus non-structural protein 2. J Gen Virol (2008) 1.15
Activation of the ubiquitin-proteasome pathway in the diaphragm in chronic obstructive pulmonary disease. Am J Respir Crit Care Med (2006) 1.12
Atp6v1c1 is an essential component of the osteoclast proton pump and in F-actin ring formation in osteoclasts. Biochem J (2009) 1.12
Signaling networks that control the lineage commitment and differentiation of bone cells. Crit Rev Eukaryot Gene Expr (2009) 1.11
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet (2011) 1.09
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation. Ann Neurol (2005) 1.08
Is wire-guided selective bile duct cannulation effective for prevention of post-ERCP pancreatitis by all endoscopists? Endoscopy (2014) 1.07
TACE release of TNF-alpha mediates mechanotransduction-induced activation of p38 MAPK and myogenesis. J Cell Sci (2007) 1.07
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann Neurol (2013) 1.07
BMP4 signaling is involved in the generation of inner ear sensory epithelia. BMC Dev Biol (2005) 1.06
Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia. Arthritis Rheum (2008) 1.06
Efficient culture adaptation of hepatitis C virus recombinants with genotype-specific core-NS2 by using previously identified mutations. J Virol (2010) 1.06
Atp6v0d2 is an essential component of the osteoclast-specific proton pump that mediates extracellular acidification in bone resorption. J Bone Miner Res (2009) 1.04
New phenotype and pathology features in MYH7-related distal myopathy. Neuromuscul Disord (2012) 1.03
TIMP3: a physiological regulator of adult myogenesis. J Cell Sci (2010) 1.03
Characterization of proliferating cells from newborn mouse cochleae. Neuroreport (2006) 1.02
Osteoclast differentiation and gene regulation. Front Biosci (2007) 1.02
Tibial muscular dystrophy in a Belgian family. Ann Neurol (2003) 1.01
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet (2013) 1.01
Inhibition of CK2α down-regulates Notch1 signalling in lung cancer cells. J Cell Mol Med (2013) 1.01
Specificity of RGS10A as a key component in the RANKL signaling mechanism for osteoclast differentiation. J Cell Sci (2007) 1.00
The zinc-finger protein CNBP is required for forebrain formation in the mouse. Development (2003) 1.00
C/EBPα regulates osteoclast lineage commitment. Proc Natl Acad Sci U S A (2013) 0.99
Inhibition of CK2α down-regulates Hedgehog/Gli signaling leading to a reduction of a stem-like side population in human lung cancer cells. PLoS One (2012) 0.99
Curcumin prevents lipopolysaccharide-induced atrogin-1/MAFbx upregulation and muscle mass loss. J Cell Biochem (2007) 0.99
Targeted overexpression of BSP in osteoclasts promotes bone metastasis of breast cancer cells. J Cell Physiol (2009) 0.99
RGS12 is essential for RANKL-evoked signaling for terminal differentiation of osteoclasts in vitro. J Bone Miner Res (2007) 0.98
Energy taxis drives Campylobacter jejuni toward the most favorable conditions for growth. Appl Environ Microbiol (2009) 0.98
The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy. J Neurol Neurosurg Psychiatry (2010) 0.98
The expression of CXCR4, CXCL12 and CXCR7 in malignant pleural mesothelioma. J Pathol (2011) 0.98
Highly efficient infectious cell culture of three hepatitis C virus genotype 2b strains and sensitivity to lead protease, nonstructural protein 5A, and polymerase inhibitors. Hepatology (2013) 0.98
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. J Neurol (2009) 0.98
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord (2011) 0.97
tert-Butyl 4-carbamoyl-3-methoxy-imino-4-methyl-piperidine-1-carboxyl-ate. Acta Crystallogr Sect E Struct Rep Online (2008) 0.97
Osteoarthritis: genetic factors, animal models, mechanisms, and therapies. Front Biosci (Elite Ed) (2012) 0.96
Characterization of a eukaryotic translation initiation factor 5A homolog from Tamarix androssowii involved in plant abiotic stress tolerance. BMC Plant Biol (2012) 0.96
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain (2010) 0.96
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. Hum Mutat (2014) 0.95
Progressive nuclear factor-kappaB activation resistant to inhibition by contraction and curcumin in mdx mice. Muscle Nerve (2006) 0.95
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2. Am J Pathol (2010) 0.95
Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathol (2010) 0.94
Expression profiling of salinity-alkali stress responses by large-scale expressed sequence tag analysis in Tamarix hispid. Plant Mol Biol (2007) 0.94
V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption. J Bone Miner Res (2012) 0.93
Beta3-integrin mediates satellite cell differentiation in regenerating mouse muscle. FASEB J (2011) 0.93
Myotilinopathy in a family with late onset myopathy. Neuromuscul Disord (2006) 0.92
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. J Biol Chem (2010) 0.92
TRF4 is involved in polyadenylation of snRNAs in Drosophila melanogaster. Mol Cell Biol (2008) 0.91
Expression of multiple nebulin isoforms in human skeletal muscle and brain. Muscle Nerve (2012) 0.91
Pain in patients with myotonic dystrophy type 2: a postal survey in Finland. Muscle Nerve (2012) 0.91
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study. Acta Neuropathol (2009) 0.91
Preparation of quantum dot/drug nanoparticle formulations for traceable targeted delivery and therapy. Theranostics (2012) 0.91
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Hum Mol Genet (2008) 0.90
Combination treatment with hepatitis C virus protease and NS5A inhibitors is effective against recombinant genotype 1a, 2a, and 3a viruses. Antimicrob Agents Chemother (2012) 0.90
Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands. Neuromuscul Disord (2002) 0.90
A DREB gene from Limonium bicolor mediates molecular and physiological responses to copper stress in transgenic tobacco. J Plant Physiol (2010) 0.90
Comprehensive transcriptional profiling of NaHCO3-stressed Tamarix hispida roots reveals networks of responsive genes. Plant Mol Biol (2013) 0.90
Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. Neuromuscul Disord (2011) 0.89
RNAi-mediated silencing of Atp6i and Atp6i haploinsufficiency prevents both bone loss and inflammation in a mouse model of periodontal disease. PLoS One (2013) 0.89
The bZIP protein from Tamarix hispida, ThbZIP1, is ACGT elements binding factor that enhances abiotic stress signaling in transgenic Arabidopsis. BMC Plant Biol (2013) 0.89
Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers. Acta Neuropathol (2010) 0.89
ZNF9 activation of IRES-mediated translation of the human ODC mRNA is decreased in myotonic dystrophy type 2. PLoS One (2010) 0.89
A WRKY gene from Tamarix hispida, ThWRKY4, mediates abiotic stress responses by modulating reactive oxygen species and expression of stress-responsive genes. Plant Mol Biol (2013) 0.89
Sonic hedgehog promotes mouse inner ear progenitor cell proliferation and hair cell generation in vitro. Neuroreport (2006) 0.88