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Search: authors:"Atsuko Imai"

3 papers found.
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HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families

In the search for sequence variants underlying disease, commonly applied filtering steps usually result in a number of candidate variants that cannot further be narrowed down. In autosomal recessive families, disease usually occurs only in one generation so that genetic linkage analysis is unlikely to help. Because homozygous recessive mutations tend to be inherited together with...

A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population

Periodontitis is an inflammatory disease causing loss of tooth-supporting periodontal tissue. Disease susceptibility to the rapidly progressive form of periodontitis, aggressive periodontitis (AgP), appears to be influenced by genetic risk factors. To identify these in a Japanese population, we performed whole exome sequencing of 41 unrelated generalized or localized AgP patients...

Quantitative Analysis of Coronary Vessels with Optimized Intracoronary CT Number

Background Variability in intracoronary computed tomography (CT) number may influence vessel quantification. We confirmed the feasibility of a novel method for measuring vessel diameter and area using coronary CT angiography (CCTA) with an optimized intracoronary CT number, 350 HU. Methods We performed intravascular ultrasound (IVUS) imaging in 52 patients with significant...