Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients.

Myostatin activation in patients with advanced heart failure and after mechanical unloading. Eur J Heart Fail (2010) 2.40

Reduced serum myostatin concentrations associated with genetic muscle disease progression. J Neurol (2017) 0.75

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet (2010) 2.25

Acute renal failure due to obstructive uric acid stones associated with acute gastroenteritis. Pediatr Nephrol (2009) 2.09

Rituximab treatment for posttransplant lymphoproliferative disorder (PTLD) induces complete remission of recurrent nephrotic syndrome. Pediatr Nephrol (2005) 2.08

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy. Hum Mutat (2007) 1.89

Mortality rates for extremely low birth weight infants born in Japan in 2005. Pediatrics (2009) 1.59

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome. Pediatr Res (2009) 1.57

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

Treatment strategies for Henoch-Schönlein purpura nephritis by histological and clinical severity. Pediatr Nephrol (2011) 1.39

A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. Hum Genet (2006) 1.30

Effect of the mutation (C3435T) at exon 26 of the MDR1 gene on expression level of MDR1 messenger ribonucleic acid in duodenal enterocytes of healthy Japanese subjects. Clin Pharmacol Ther (2002) 1.30

Effects of polymorphisms of MDR1, MRP1, and MRP2 genes on their mRNA expression levels in duodenal enterocytes of healthy Japanese subjects. Biol Pharm Bull (2002) 1.23

Intravenous infusion of an antisense oligonucleotide results in exon skipping in muscle dystrophin mRNA of Duchenne muscular dystrophy. Pediatr Res (2006) 1.22

Long-term outcome and intervention of urea cycle disorders in Japan. J Inherit Metab Dis (2011) 1.20

Circadian clock genes directly regulate expression of the Na(+)/H(+) exchanger NHE3 in the kidney. Kidney Int (2005) 1.18

Spinal muscular atrophy: from gene discovery to clinical trials. Ann Hum Genet (2013) 1.15

The pharmacological characteristics of molecular-based inherited salt-losing tubulopathies. J Clin Endocrinol Metab (2010) 1.07

Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma. J Hum Genet (2006) 1.07

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. Mol Genet Metab (2010) 1.06

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun (2011) 1.05

Inhibition of amino acid-mTOR signaling by a leucine derivative induces G1 arrest in Jurkat cells. Biochem Biophys Res Commun (2003) 1.02

Quantification of lysophosphatidylcholines and phosphatidylcholines using liquid chromatography-tandem mass spectrometry in neonatal serum. J Chromatogr B Analyt Technol Biomed Life Sci (2006) 1.02

Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages. J Hum Genet (2004) 1.01

Association of VEGF genotype with mRNA level in colorectal adenocarcinomas. Biochem Biophys Res Commun (2004) 1.01

A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. Eur J Endocrinol (2007) 1.01

Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. Pediatr Res (2007) 1.00

Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia. Hum Genet (2001) 0.99

A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro. Mol Genet Metab (2005) 0.98

Real-time quantitative polymerase chain reaction for MDR1, MRP1, MRP2, and CYP3A-mRNA levels in Caco-2 cell lines, human duodenal enterocytes, normal colorectal tissues, and colorectal adenocarcinomas. Drug Metab Dispos (2002) 0.97

Natural history of genetically proven autosomal recessive Alport syndrome. Pediatr Nephrol (2014) 0.96

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation. Kobe J Med Sci (2007) 0.96

Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon. Hum Mutat (2011) 0.96

Long-term follow-up of atypical membranoproliferative glomerulonephritis: are steroids indicated? Pediatr Nephrol (2005) 0.95

In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. Nucleic Acids Res (2007) 0.94

Molecular identification and characterization of a novel nuclear protein whose expression is up-regulated in insulin-resistant animals. J Biol Chem (2002) 0.94

Blockade of TGF-beta action ameliorates renal dysfunction and histologic progression in anti-GBM nephritis. Kidney Int (2003) 0.94

Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis. Pediatr Nephrol (2008) 0.94

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. Pediatr Nephrol (2009) 0.92

Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. J Neurol (2002) 0.92

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts. Hum Genet (2004) 0.92

Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol (2010) 0.92

Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation. Pediatrics (2011) 0.92

The first report of adolescent TAFRO syndrome, a unique clinicopathologic variant of multicentric Castleman's disease. BMC Pediatr (2014) 0.91

Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene. J Med Genet (2006) 0.91

Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines. Brain Dev (2011) 0.91

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in the south of Thailand and identification of a novel variant (G6PD Songklanagarind). Blood Cells Mol Dis (2005) 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

Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome. Pediatr Res (2007) 0.90

Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients. Am J Pathol (2004) 0.89

Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients. Pediatr Int (2007) 0.89

Automatic detection of immature platelets for decision making regarding platelet transfusion indications for pediatric patients. Transfus Apher Sci (2008) 0.89

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected]. J Inherit Metab Dis (2014) 0.89

Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? Nephrol Dial Transplant (2006) 0.89

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease. Mol Genet Metab (2004) 0.89

Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon. Hum Gene Ther (2004) 0.88

OCRL1 mutations in patients with Dent disease phenotype in Japan. Pediatr Nephrol (2007) 0.87

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy. J Hum Genet (2007) 0.87

A strong exonic splicing enhancer in dystrophin exon 19 achieve proper splicing without an upstream polypyrimidine tract. J Biochem (2007) 0.87

The effect of aldosterone blockade in patients with Alport syndrome. Pediatr Nephrol (2006) 0.87

Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method: a pilot study on Filipino male newborns. Pediatr Int (2003) 0.87

A novel mutation at the N-terminal of SMN Tudor domain inhibits its interaction with target proteins. J Neurol (2007) 0.87

Decreased mAKAP, ryanodine receptor, and SERCA2a gene expression in mdx hearts. Biochem Biophys Res Commun (2003) 0.87