Published in Am J Med Genet A on January 15, 2007
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Vici syndrome: a rare autosomal recessive syndrome with brain anomalies, cardiomyopathy, and severe intellectual disability. Case Rep Genet (2011) 0.88
Role of Epg5 in selective neurodegeneration and Vici syndrome. Autophagy (2013) 0.83
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain (2016) 0.80
A Case of a Newborn with Agenesis of the Corpus Callosum Complicated with Ocular Albinism. Case Rep Ophthalmol (2016) 0.75
Vici syndrome: a review. Orphanet J Rare Dis (2016) 0.75
Clinical utility gene card for: Vici Syndrome. Eur J Hum Genet (2013) 0.75
Bile acids induce energy expenditure by promoting intracellular thyroid hormone activation. Nature (2006) 9.36
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet (2003) 7.98
Clinical outcomes of double-balloon endoscopy for the diagnosis and treatment of small-intestinal diseases. Clin Gastroenterol Hepatol (2004) 3.04
Vascular access use and outcomes: an international perspective from the Dialysis Outcomes and Practice Patterns Study. Nephrol Dial Transplant (2008) 2.99
Committed neuronal precursors confer astrocytic potential on residual neural precursor cells. Dev Cell (2009) 2.45
The impact of anti-HLA antibodies on unrelated cord blood transplantations. Blood (2010) 2.05
More sleep will bring more serotonin and less suicide in Japan. Med Hypotheses (2010) 2.00
Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplasia. Cereb Cortex (2009) 1.93
Lowering bile acid pool size with a synthetic farnesoid X receptor (FXR) agonist induces obesity and diabetes through reduced energy expenditure. J Biol Chem (2011) 1.62
Overview of regular dialysis treatment in Japan (as of 31 December 2008). Ther Apher Dial (2010) 1.62
Neurons derived from transplanted neural stem cells restore disrupted neuronal circuitry in a mouse model of spinal cord injury. J Clin Invest (2010) 1.62
Sleep education in medical school curriculum: a glimpse across countries. Sleep Med (2011) 1.49
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. J Hum Genet (2010) 1.49
Expansion of the cell plate in plant cytokinesis requires a kinesin-like protein/MAPKKK complex. Cell (2002) 1.48
Mapping a quantitative trait locus for resistance to bacterial grain rot in rice. Rice (N Y) (2013) 1.45
Limited response to CRH stimulation tests at 2 weeks of age in preterm infants born at less than 30 weeks of gestational age. Clin Endocrinol (Oxf) (2013) 1.44
Analysis of the full-length genome of a hepatitis E virus isolate obtained from a wild boar in Japan that is classifiable into a novel genotype. J Gen Virol (2011) 1.44
Efficacy and safety of once-daily oxybutynin patch versus placebo and propiverine in Japanese patients with overactive bladder: A randomized double-blind trial. Int J Urol (2013) 1.42
Unexpectedly high prevalence of pretransplant abnormal glucose tolerance in pediatric kidney transplant recipients. Pediatr Transplant (2006) 1.41
Circulating thrombospondin-2 reflects disease severity and predicts outcome of heart failure with reduced ejection fraction. Circ J (2014) 1.41
An overview of regular dialysis treatment in Japan (as of 31 December 2010). Ther Apher Dial (2012) 1.37
R1R2R3-Myb proteins positively regulate cytokinesis through activation of KNOLLE transcription in Arabidopsis thaliana. Development (2007) 1.36
Urinary trypsin inhibitor protects against systemic inflammation induced by lipopolysaccharide. Mol Pharmacol (2004) 1.32
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Sphingosine 1-phosphate (S1P) regulates vascular contraction via S1P3 receptor: investigation based on a new S1P3 receptor antagonist. Mol Pharmacol (2010) 1.30
Retracted Epigenetic enhancement of BDNF signaling rescues synaptic plasticity in aging. J Neurosci (2011) 1.30
Overview of regular dialysis treatment in Japan (as of 31 December 2011). Ther Apher Dial (2013) 1.29
Nongenomic actions of bile acids. Synthesis and preliminary characterization of 23- and 6,23-alkyl-substituted bile acid derivatives as selective modulators for the G-protein coupled receptor TGR5. J Med Chem (2007) 1.28
Clinical outcomes of enteroscopy using the double-balloon method for strictures of the small intestine. World J Gastroenterol (2005) 1.17
Effects of diet-induced moderate weight reduction on intrahepatic and intramyocellular triglycerides and glucose metabolism in obese subjects. J Clin Endocrinol Metab (2007) 1.16
Parental behaviors and sleep outcomes in infants and toddlers: a cross-cultural comparison. Sleep Med (2010) 1.15
Epigenetic mechanisms regulating fate specification of neural stem cells. Philos Trans R Soc Lond B Biol Sci (2008) 1.13
Notch mediates the segmental specification of angioblasts in somites and their directed migration toward the dorsal aorta in avian embryos. Dev Cell (2008) 1.13
Nicotine-like effects of the neonicotinoid insecticides acetamiprid and imidacloprid on cerebellar neurons from neonatal rats. PLoS One (2012) 1.12
Overview of regular dialysis treatment in Japan (as of 31 December 2009). Ther Apher Dial (2012) 1.11
An overview of regular dialysis treatment in Japan (as of 31 December 2012). Ther Apher Dial (2014) 1.11
A study of the association between sleep habits and problematic behaviors in preschool children. Chronobiol Int (2008) 1.10
Protection against oxidative stress-induced hepatic injury by intracellular type II platelet-activating factor acetylhydrolase by metabolism of oxidized phospholipids in vivo. J Biol Chem (2007) 1.10
Mapping spatio-temporal activation of Notch signaling during neurogenesis and gliogenesis in the developing mouse brain. J Neurochem (2004) 1.10
Iron (III) induces aggregation of hyperphosphorylated tau and its reduction to iron (II) reverses the aggregation: implications in the formation of neurofibrillary tangles of Alzheimer's disease. J Neurochem (2002) 1.09
Human parvovirus B19 nonstructural protein (NS1) induces cell cycle arrest at G(1) phase. J Virol (2003) 1.08
Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression. Cereb Cortex (2010) 1.08
Survival of parvovirus B19-infected cells by cellular autophagy. Virology (2006) 1.08
Development of novel EDG3 antagonists using a 3D database search and their structure-activity relationships. J Med Chem (2002) 1.06
L-Glutamine or L-alanyl-L-glutamine prevents oxidant- or endotoxin-induced death of neonatal enterocytes. Amino Acids (2009) 1.06
Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome. Brain Dev (2005) 1.05
Nonsurgical management of small-bowel polyps in Peutz-Jeghers syndrome with extensive polypectomy by using double-balloon endoscopy. Gastrointest Endosc (2011) 1.05
Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival. Brain Dev (2005) 1.02
Protective role of urinary trypsin inhibitor in acute lung injury induced by lipopolysaccharide. Exp Biol Med (Maywood) (2005) 1.01
Finger cold-induced vasodilatation, sympathetic skin response, and R-R interval variation in patients with progressive spinal muscular atrophy. J Child Neurol (2005) 1.01
Clinical features of late cytomegalovirus infection after hematopoietic stem cell transplantation. Int J Hematol (2008) 1.01
PML mediates glioblastoma resistance to mammalian target of rapamycin (mTOR)-targeted therapies. Proc Natl Acad Sci U S A (2013) 1.00
Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. Acta Neuropathol (2007) 1.00
[QTL analysis of sheath blight resistance in rice (Oryza sativa L.)]. Yi Chuan Xue Bao (2002) 1.00
Bile acid binding resin improves metabolic control through the induction of energy expenditure. PLoS One (2012) 0.99
Potentially harmful sleep habits of 3-year-old children in Japan. J Dev Behav Pediatr (2002) 0.99
Neuronal differentiation of neural precursor cells is promoted by the methyl-CpG-binding protein MeCP2. Exp Neurol (2009) 0.98
An overview of regular dialysis treatment in Japan (as of 31 December 2007). Ther Apher Dial (2009) 0.98
Neonate showing reversible splenial lesion. Arch Neurol (2005) 0.97
Astrocyte differentiation of neural precursor cells is enhanced by retinoic acid through a change in epigenetic modification. Stem Cells (2009) 0.97
Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. Am J Med Genet A (2004) 0.96
Prescription patterns and mineral metabolism abnormalities in the cinacalcet era: results from the MBD-5D study. Clin J Am Soc Nephrol (2012) 0.96
Notch signaling functions as a binary switch for the determination of glandular and luminal fates of endodermal epithelium during chicken stomach development. Development (2005) 0.96
Imaging of corticobasal degeneration syndrome. Neuroradiology (2007) 0.96
Non-steroidal anti-inflammatory drug-induced small bowel injuries identified by double-balloon endoscopy. World J Gastroenterol (2005) 0.95
Reduced survival and quality of life following return to dialysis after transplant failure: the Dialysis Outcomes and Practice Patterns Study. Nephrol Dial Transplant (2012) 0.95
Methyl-CpG binding proteins are involved in restricting differentiation plasticity in neurons. J Neurosci Res (2006) 0.94
Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. Differentiation (2010) 0.94
Long-term ultra-low-dose acyclovir against varicella-zoster virus reactivation after allogeneic hematopoietic stem cell transplantation. Am J Hematol (2008) 0.94
Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS). Brain Dev (2011) 0.93
Mineral and bone disorders outcomes study for Japanese chronic kidney disease stage 5D patients: rationale and study design. Ther Apher Dial (2011) 0.93
Oxidative stress as a biomarker of respiratory disturbance in patients with severe motor and intellectual disabilities. Brain Dev (2008) 0.93
Pharmacophore-based design of sphingosine 1-phosphate-3 receptor antagonists that include a 3,4-dialkoxybenzophenone scaffold. J Med Chem (2007) 0.92
Kawasaki disease complicated by mild encephalopathy with a reversible splenial lesion (MERS). J Neurol Sci (2011) 0.91
Lesions in the central tegmental tract in autopsy cases of developmental brain disorders. Brain Dev (2010) 0.90
Concentration-dependent inhibitory effect of irbesartan on renal uric acid transporters. J Pharmacol Sci (2010) 0.90
Hemorrhage due to tracheoarterial fistula with severe motor and intellectual disability. Pediatr Int (2008) 0.90
The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. Am J Hum Genet (2002) 0.90
Relationship between exercise tolerance and muscle strength following cardiac rehabilitation: comparison of patients after cardiac surgery and patients with myocardial infarction. J Cardiol (2009) 0.90
The axonal damage marker tau protein in the cerebrospinal fluid is increased in patients with acute encephalopathy with biphasic seizures and late reduced diffusion. Brain Dev (2009) 0.90
Immunohistological study of globoid cell leukodystrophy. Brain Dev (2002) 0.89
Sleep-related nighttime crying (yonaki) in Japan: a community-based study. Pediatrics (2005) 0.89
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain Dev (2012) 0.89
The origin of neoplastic mast cells in systemic mastocytosis with AML1/ETO-positive acute myeloid leukemia. Exp Hematol (2007) 0.89
Japanese haemodialysis anaemia management practices and outcomes (1999-2006): results from the DOPPS. Nephrol Dial Transplant (2008) 0.89
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG). Brain Dev (2008) 0.89
Chronic C-Type Natriuretic Peptide Infusion Attenuates Angiotensin II-Induced Myocardial Superoxide Production and Cardiac Remodeling. Int J Vasc Med (2012) 0.88
Double-balloon enteroscopy through a Roux-en-Y anastomosis for EMR of an early carcinoma in the afferent duodenal limb. Gastrointest Endosc (2004) 0.88
Fat-derived factor omentin stimulates endothelial cell function and ischemia-induced revascularization via endothelial nitric oxide synthase-dependent mechanism. J Biol Chem (2011) 0.88
Mapping and validation of QTLs for rice sheath blight resistance. Breed Sci (2013) 0.88
Give children and adolescents the gift of a good night's sleep: a call to action. Sleep Med (2011) 0.88
Maternal docosahexaenoic acid-enriched diet prevents neonatal brain injury. Neuropathology (2010) 0.87
A nationwide survey of hepatitis E virus (HEV) infection in wild boars in Japan: identification of boar HEV strains of genotypes 3 and 4 and unrecognized genotypes. Arch Virol (2011) 0.87
Pathophysiological roles of nuclear factor kappaB (NF-kB) in pulmonary arterial hypertension: effects of synthetic selective NF-kB inhibitor IMD-0354. Cardiovasc Res (2013) 0.87
Decreases in PTH in Japanese hemodialysis patients with secondary hyperparathyroidism: associations with changing practice patterns. Clin J Am Soc Nephrol (2011) 0.86
Oxidative stress and disturbed glutamate transport in spinal muscular atrophy. Brain Dev (2002) 0.86
Silver stainings distinguish Lewy bodies and glial cytoplasmic inclusions: comparison between Gallyas-Braak and Campbell-Switzer methods. Acta Neuropathol (2005) 0.86