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The Cardiac Mechanical Stretch Sensor Machinery Involves a Z Disc Complex that Is Defective in a Subset of Human Dilated Cardiomyopathy
TLDR
It is proposed that a Z disc MLP/T-cap complex is a key component of the in vivo cardiomyocyte stretch sensor machinery, and that defects in the complex can lead to human DCM and associated heart failure. Expand
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
TLDR
Family studies showed that an Arg145Gly mutation was linked to HCM and a Lys206Gln mutation had occurred de novo, thus strongly suggesting that cTnl is the seventh HCM gene, and systematically characterized the cardiac sarcomere genes. Expand
Polymorphism of the 5'-flanking region of the human tumor necrosis factor (TNF)-alpha gene in Japanese.
TLDR
The 1,358 base pair sequence of the 5'-flanking region of the TNF-alpha gene in nine Japanese is determined, and three new polymorphisms at positions 1,031, -863, and -857 are identified, with the former two in one allele. Expand
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
TLDR
A G to T transversion in codon 740, from CGC to CTC, replacing Arginine with Leucine was found in a patient, suggesting that the titin mutation may cause HCM in this patient via altered affinity to alpha-actinin. Expand
Titin mutations as the molecular basis for dilated cardiomyopathy.
TLDR
Observations suggest that titin mutations may cause DCM in a subset of the patients, and one of them was a nonsense mutation presumably encoding for a truncated nonfunctional molecule. Expand
Polymorphism of the 5′‐flanking region of the human tumor necrosis factor (TNF)‐α gene in Japanese
TLDR
The 1,358 base pair sequence of the 5'-flanking region of the TNF-alpha gene in nine Japanese is determined, and three new polymorphisms at positions 1,031, -863, and -857 are identified, with the former two in one allele. Expand
Polymorphisms in the SOD2 and HLA-DRB1 genes are associated with nonfamilial idiopathic dilated cardiomyopathy in Japanese.
TLDR
A two-locus analysis suggested that these two genetic markers (SOD2-VV genotype and DRB1*1401) may play a synergistic role in controlling the susceptibility to nonfamilial IDC. Expand
Impaired Heart Contractility in Apelin Gene–Deficient Mice Associated With Aging and Pressure Overload
TLDR
Genetic data show that the endogenous peptide Apelin is crucial to maintain cardiac contractility in pressure overload and aging. Expand
Detailed analysis of the mouse H-2Kb promoter: Enhancer-like sequences and their role in the regulation of class I gene expression
TLDR
The promoter of the beta 2-microglobulin gene also contains a sequence with enhancer-like activity, but shares no homology with the H-2Kb promoter region. Expand
Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
TLDR
Observations suggest that the difference in clinical phenotype (HCM or DCM) may be correlated with the property of altered binding among the Z-disc components. Expand
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