Published in Neuropharmacology on July 22, 2011
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Phase I trial and pharmacokinetic study of bevacizumab in pediatric patients with refractory solid tumors: a Children's Oncology Group Study. J Clin Oncol (2008) 2.06
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The LIM-homeobox gene Lhx8 is required for the development of many cholinergic neurons in the mouse forebrain. Proc Natl Acad Sci U S A (2003) 1.85
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet (2009) 1.83
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IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science (2010) 1.63
A peculiar constellation of tau pathology defines a subset of dementia in the elderly. Acta Neuropathol (2011) 1.60
Tuberoinfundibular peptide of 39 residues is activated during lactation and participates in the suckling-induced prolactin release in rat. Endocrinology (2010) 1.51
Mobile phones and children: is precaution warranted? Bioelectromagnetics (2004) 1.49
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem (2006) 1.46
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet (2009) 1.40
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet (2011) 1.36
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem (2003) 1.34
Downregulation of the CB1 cannabinoid receptor and related molecular elements of the endocannabinoid system in epileptic human hippocampus. J Neurosci (2008) 1.32
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Renal transporters in drug development. Annu Rev Pharmacol Toxicol (2012) 1.30
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Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr (2006) 1.29
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem (2006) 1.29
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SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain (2007) 1.27
Cocaine- and amphetamine-related transcript is involved in the orexigenic effect of endogenous anandamide. Neuroendocrinology (2005) 1.26
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Metabolic cutis laxa syndromes. J Inherit Metab Dis (2011) 1.25
Novel tracing paradigms--genetically engineered herpesviruses as tools for mapping functional circuits within the CNS: present status and future prospects. Prog Neurobiol (2004) 1.25
The Edinger-Westphal nucleus: a historical, structural, and functional perspective on a dichotomous terminology. J Comp Neurol (2011) 1.24
Meta-analysis: adefovir dipivoxil in combination with lamivudine in patients with lamivudine-resistant hepatitis B virus. Virol J (2009) 1.23
miR-7b, a microRNA up-regulated in the hypothalamus after chronic hyperosmolar stimulation, inhibits Fos translation. Proc Natl Acad Sci U S A (2006) 1.22
Expression and distribution of tuberoinfundibular peptide of 39 residues in the rat central nervous system. J Comp Neurol (2003) 1.22
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
Ghrelin regulates the hypothalamic-pituitary-adrenal axis and restricts anxiety after acute stress. Biol Psychiatry (2012) 1.18
How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis (2011) 1.18
A critical role for the cannabinoid CB1 receptors in alcohol dependence and stress-stimulated ethanol drinking. J Neurosci (2003) 1.17
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet (2012) 1.15
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis (2013) 1.14
Anatomical and physiological evidence for involvement of tuberoinfundibular peptide of 39 residues in nociception. Proc Natl Acad Sci U S A (2002) 1.14
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat (2008) 1.14
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain (2008) 1.13
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta (2009) 1.10
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab (2011) 1.09
The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis (2010) 1.08
Targeted knockdown of EGR-1 inhibits IL-8 production and IL-8-mediated invasion of prostate cancer cells through suppressing EGR-1/NF-kappaB synergy. J Biol Chem (2009) 1.08
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat (2006) 1.07
Donor-derived mesenchymal stem cells combined with low-dose tacrolimus prevent acute rejection after renal transplantation: a clinical pilot study. Transplantation (2013) 1.07
RASGRF2 regulates alcohol-induced reinforcement by influencing mesolimbic dopamine neuron activity and dopamine release. Proc Natl Acad Sci U S A (2012) 1.06
Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect. Hum Mutat (2010) 1.06
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem (2011) 1.05
Chronic stress induces sex-specific alterations in methylation and expression of corticotropin-releasing factor gene in the rat. PLoS One (2011) 1.04
Calcitonin gene-related peptide-containing pathways in the rat forebrain. J Comp Neurol (2005) 1.03
Insulin resistance determined by Homeostasis Model Assessment (HOMA) and associations with metabolic syndrome among Chinese children and teenagers. Diabetol Metab Syndr (2013) 1.02
Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A (2013) 1.01
Prevalence of metabolic syndrome in a cohort of Chinese schoolchildren: comparison of two definitions and assessment of adipokines as components by factor analysis. BMC Public Health (2013) 1.01
Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet (2009) 1.01
Glutamate uptake triggers transporter-mediated GABA release from astrocytes. PLoS One (2009) 1.01
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed (2006) 1.01
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab (2008) 1.00
Sex-dependent and differential responses to acute restraint stress of corticotropin-releasing factor-producing neurons in the rat paraventricular nucleus, central amygdala, and bed nucleus of the stria terminalis. J Neurosci Res (2011) 1.00
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab (2013) 1.00
N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism. Clin Chem (2003) 1.00
The TIP39-PTH2 receptor system: unique peptidergic cell groups in the brainstem and their interactions with central regulatory mechanisms. Prog Neurobiol (2009) 0.99
TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis (2014) 0.99
Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr (2011) 0.99
Astrocytes convert network excitation to tonic inhibition of neurons. BMC Biol (2012) 0.99
Unconventional translation initiation of human trypsinogen 4 at a CUG codon with an N-terminal leucine. A possible means to regulate gene expression. FEBS J (2007) 0.99
Leptin and the hypothalamo-pituitary-adrenal stress axis. Gen Comp Endocrinol (2012) 0.98
Moonlighting proteins and protein-protein interactions as neurotherapeutic targets in the G protein-coupled receptor field. Neuropsychopharmacology (2013) 0.98
Emerging functions for tuberoinfundibular peptide of 39 residues. Trends Endocrinol Metab (2003) 0.96
An automated method for nonparametric kinetic analysis of clinical DCE-MRI data: application to glioblastoma treated with bevacizumab. Magn Reson Med (2010) 0.96
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain (2014) 0.95
Noncompartmental kinetic analysis of DCE-MRI data from malignant tumors: Application to glioblastoma treated with bevacizumab. Magn Reson Med (2010) 0.95
Restraint stress alters the secretory activity of neurons co-expressing urocortin-1, cocaine- and amphetamine-regulated transcript peptide and nesfatin-1 in the mouse Edinger-Westphal nucleus. Brain Res (2010) 0.95
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochim Biophys Acta (2004) 0.95
Luminescent solar concentration with semiconductor nanorods and transfer-printed micro-silicon solar cells. ACS Nano (2013) 0.94
G protein-coupled receptor heterodimerization in the brain. Methods Enzymol (2013) 0.94
Urocortinergic neurons respond in a differentiated manner to various acute stressors in the Edinger-Westphal nucleus in the rat. J Comp Neurol (2004) 0.94
Expression and physiological regulation of BDNF receptors in the neuroendocrine melanotrope cell of Xenopus laevis. Gen Comp Endocrinol (2007) 0.94
Overexpression of corticotropin-releasing hormone in transgenic mice and chronic stress-like autonomic and physiological alterations. Eur J Neurosci (2002) 0.94
Cytotoxic, cytoprotective and antioxidant effects of isolated phenolic compounds from fresh ginger. Fitoterapia (2012) 0.94
Chronic nicotine treatment leads to induction of tyrosine hydroxylase in locus ceruleus neurons: the role of transcriptional activation. Mol Pharmacol (2004) 0.93
Pharmacokinetic analysis of irinotecan plus bevacizumab in patients with advanced solid tumors. Cancer Chemother Pharmacol (2009) 0.93
Etiology and epidemiology of viral diarrhea in children under the age of five hospitalized in Tianjin, China. Arch Virol (2012) 0.93
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis (2011) 0.92
Spatial and temporal activation of brain regions in hibernation: c-fos expression during the hibernation bout in thirteen-lined ground squirrel. J Comp Neurol (2007) 0.91
Automatic and rapid discrimination of cotton genotypes by near infrared spectroscopy and chemometrics. J Anal Methods Chem (2012) 0.91
Distribution and expression of CRF receptor 1 and 2 mRNAs in the CRF over-expressing mouse brain. Brain Res (2006) 0.91