Isocitrate dehydrogenase (IDH) wild-type diffuse astrocytic tumors tend to be pathologically diagnosed as glioblastomas (GBMs). We previously reported that myoinositol to total choline (Ins/Cho) ratio in GBMs on magnetic resonance (MR) spectroscop...
Journal of gynecology obstetrics and human reproduction 50(10) 102198-102198 2021年7月
OBJECTIVE: The proprotein convertase furin is known to be involved in the processing of pro-B-type natriuretic peptide (proBNP) and prorenin receptor (PRR), suggesting that it has a potential function in blood pressure regulation. We investigated ...
BACKGROUND: Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. CASE PRESENTATION: We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[...
＜文献概要＞●重篤な遺伝性疾患を対象とした着床前遺伝学的検査(PGT-M)を高精度に実施するためには,最適な全ゲノム増幅法を用いて十分なDNA量を得ることに加え,家系における病的バリアントの信頼度を検討し,それを検出する直接法と連鎖解析による間接法を併用することが重要である.●直接法を用いるにあたって,PGT-Mの対象となる疾患は通常のSanger法では判定できない特殊な病的バリアントが原因のことが多く,解析には工夫が必要になる.●間接法では,一塩基置換やshort tandem repe...
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