Published in PLoS One on February 25, 2013
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USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1. J Hum Genet (2012) 0.92
Functional analysis of splicing mutations in exon 7 of NF1 gene. BMC Med Genet (2007) 0.90
Sociological and psychological factors associated with hearing loss. J Speech Hear Res (1969) 0.89
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Functional analysis of splicing mutations in MYO7A and USH2A genes. Clin Genet (2011) 0.84
Identification of three novel mutations in the MYO7A gene Hum Mutat (1999) 0.78
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet (2006) 2.27
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci U S A (2002) 2.21
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
Brain edema and inflammatory activation in bile duct ligated rats with diet-induced hyperammonemia: A model of hepatic encephalopathy in cirrhosis. Hepatology (2006) 1.83
Epithelial to mesenchymal transition is increased in patients with COPD and induced by cigarette smoke. Thorax (2013) 1.82
Inflammation and hepatic encephalopathy: ibuprofen restores learning ability in rats with portacaval shunts. Hepatology (2007) 1.81
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
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Effects of long-term azithromycin therapy on airway oxidative stress markers in non-cystic fibrosis bronchiectasis. Respirology (2013) 1.53
A genetic basis for mechanosensory traits in humans. PLoS Biol (2012) 1.50
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Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat (2011) 1.36
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci (2009) 1.33
Mucus and MUC in asthma. Curr Opin Pulm Med (2006) 1.22
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet (2008) 1.17
PDE4 inhibitors as new anti-inflammatory drugs: effects on cell trafficking and cell adhesion molecules expression. Pharmacol Ther (2005) 1.10
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis (2011) 1.09
Angiotensin II-induced mononuclear leukocyte interactions with arteriolar and venular endothelium are mediated by the release of different CC chemokines. J Immunol (2006) 1.08
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Hum Mutat (2002) 1.08
Sphingosine-1-phosphate is increased in patients with idiopathic pulmonary fibrosis and mediates epithelial to mesenchymal transition. Thorax (2011) 1.07
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. Eur J Hum Genet (2004) 1.06
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. Neurology (2013) 1.04
N-acetyl-L-cysteine (NAC) inhibit mucin synthesis and pro-inflammatory mediators in alveolar type II epithelial cells infected with influenza virus A and B and with respiratory syncytial virus (RSV). Biochem Pharmacol (2011) 1.04
Oral administration of sildenafil restores learning ability in rats with hyperammonemia and with portacaval shunts. Hepatology (2005) 1.03
Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. Invest Ophthalmol Vis Sci (2010) 1.02
Characterization of aclidinium bromide, a novel inhaled muscarinic antagonist, with long duration of action and a favorable pharmacological profile. J Pharmacol Exp Ther (2009) 1.02
Menopause and ovariectomy cause a low grade of systemic inflammation that may be prevented by chronic treatment with low doses of estrogen or losartan. J Immunol (2009) 1.01
Glutamine synthetase activity and glutamine content in brain: modulation by NMDA receptors and nitric oxide. Neurochem Int (2003) 1.01
Nasal ciliary beat frequency and beat pattern in retinal ciliopathies. Invest Ophthalmol Vis Sci (2012) 1.00
Pharmacological characterization of abediterol, a novel inhaled β(2)-adrenoceptor agonist with long duration of action and a favorable safety profile in preclinical models. J Pharmacol Exp Ther (2012) 0.99
Neuroinflammation contributes to hypokinesia in rats with hepatic encephalopathy: ibuprofen restores its motor activity. J Neurosci Res (2009) 0.98
Aclidinium inhibits human lung fibroblast to myofibroblast transition. Thorax (2011) 0.96
Altered antioxidant-oxidant status in the aqueous humor and peripheral blood of patients with retinitis pigmentosa. PLoS One (2013) 0.96
Glutamatergic and gabaergic neurotransmission and neuronal circuits in hepatic encephalopathy. Metab Brain Dis (2008) 0.95
p38 MAP kinase is a therapeutic target for hepatic encephalopathy in rats with portacaval shunts. Gut (2011) 0.95
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain (2008) 0.95
Trans- but not cis-resveratrol impairs angiotensin-II-mediated vascular inflammation through inhibition of NF-κB activation and peroxisome proliferator-activated receptor-gamma upregulation. J Immunol (2010) 0.94
Brain region-selective mechanisms contribute to the progression of cerebral alterations in acute liver failure in rats. Gastroenterology (2010) 0.93
Rolipram inhibits leukocyte-endothelial cell interactions in vivo through P- and E-selectin downregulation. Br J Pharmacol (2002) 0.93
Sphingosine-1-phosphate increases human alveolar epithelial IL-8 secretion, proliferation and neutrophil chemotaxis. Eur J Pharmacol (2009) 0.91
Angiotensin II induces neutrophil accumulation in vivo through generation and release of CXC chemokines. Circulation (2004) 0.91
Olive oil-based lipid emulsion's neutral effects on neutrophil functions and leukocyte-endothelial cell interactions. JPEN J Parenter Enteral Nutr (2006) 0.91
Cilia motility and structure in primary and secondary ciliary dyskinesia. Am J Rhinol Allergy (2010) 0.90
Cigarette smoke-induced pulmonary endothelial dysfunction is partially suppressed by sildenafil. Eur J Pharm Sci (2010) 0.90
Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. Mol Vis (2010) 0.90
Tobacco, inflammation, and respiratory tract cancer. Curr Pharm Des (2012) 0.89
Extracellular calcium-sensing receptor mediates human bronchial epithelial wound repair. Biochem Pharmacol (2010) 0.88
Erythromycin exerts in vivo anti-inflammatory activity downregulating cell adhesion molecule expression. Br J Pharmacol (2005) 0.87
The USH2A c.2299delG mutation: dating its common origin in a Southern European population. Eur J Hum Genet (2010) 0.87
Brain cholinergic impairment in liver failure. Brain (2008) 0.87
Muscarinic M2 receptors in acetylcholine-isoproterenol functional antagonism in human isolated bronchus. Am J Physiol Lung Cell Mol Physiol (2002) 0.85
Nickel induces intracellular calcium mobilization and pathophysiological responses in human cultured airway epithelial cells. Chem Biol Interact (2010) 0.85
Chronic hyperammonemia reduces the activity of neuronal nitric oxide synthase in cerebellum by altering its localization and increasing its phosphorylation by calcium-calmodulin kinase II. J Neurochem (2008) 0.85
Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. Mol Vis (2012) 0.85
Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis (2010) 0.85
CXCR2 blockade impairs angiotensin II-induced CC chemokine synthesis and mononuclear leukocyte infiltration. Arterioscler Thromb Vasc Biol (2007) 0.84
Proteome analysis of primary neurons and astrocytes from rat cerebellum. J Proteome Res (2005) 0.84
Phosphodiesterase inhibition induces retinal degeneration, oxidative stress and inflammation in cone-enriched cultures of porcine retina. Exp Eye Res (2013) 0.84
Aclidinium inhibits cigarette smoke-induced lung fibroblast-to-myofibroblast transition. Eur Respir J (2012) 0.84
Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. Ophthalmic Genet (2007) 0.83
Respiratory syncytial virus inhibits ciliagenesis in differentiated normal human bronchial epithelial cells: effectiveness of N-acetylcysteine. PLoS One (2012) 0.83
NMDA receptors in hyperammonemia and hepatic encephalopathy. Metab Brain Dis (2007) 0.82
Cyclic GMP pathways in hepatic encephalopathy. Neurological and therapeutic implications. Metab Brain Dis (2010) 0.82
Direct effect of cigarette smoke on human pulmonary artery tension. Pulm Pharmacol Ther (2009) 0.82
A critical role for TNFalpha in the selective attachment of mononuclear leukocytes to angiotensin-II-stimulated arterioles. Blood (2007) 0.82
Mechanisms of cognitive alterations in hyperammonemia and hepatic encephalopathy: therapeutical implications. Neurochem Int (2009) 0.82
Ceramide inhibits Kv currents and contributes to TP-receptor-induced vasoconstriction in rat and human pulmonary arteries. Am J Physiol Cell Physiol (2011) 0.81
Acute liver failure-induced death of rats is delayed or prevented by blocking NMDA receptors in brain. Am J Physiol Gastrointest Liver Physiol (2008) 0.81
The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Mol Vis (2013) 0.81
Role of tetrahydrobiopterin in pulmonary vascular remodelling associated with pulmonary fibrosis. Thorax (2013) 0.81
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. Mol Vis (2005) 0.81
Beals-Hecht syndrome and choroidal neovascularization. Clin Ophthalmol (2010) 0.81
Piclamilast inhibits the pro-apoptotic and anti-proliferative responses of A549 cells exposed to H(2)O(2) via mechanisms involving AP-1 activation. Free Radic Res (2012) 0.80
Ultrastructural patterns of primary ciliar dyskinesia syndrome. Ultrastruct Pathol (2005) 0.80
Chronic hyperammonemia induces tonic activation of NMDA receptors in cerebellum. J Neurochem (2009) 0.80
Diaphragmatic paralysis following minor cervical trauma. Muscle Nerve (2007) 0.80
Perfusion computed tomography in a dural arteriovenous fistula presenting with focal signs: vascular congestion as a cause of reversible neurologic dysfunction. Neurosurgery (2010) 0.80