京都大学 · 医学
Mineharu教授の研究室では、脳血管疾患、特にMoyamoya病の遺伝的・分子メカニズムの解明を主眼としています。RNF213やGUCY1A3といった疾患関連遺伝子の機能と、カルシネウリン/NFATシグナルやコルチコイドシグナルとの関連を解析し、血管障害の病態解明を進めています。また、がん免疫療法の効果を高めるためのT細胞応答の制御戦略（例：ラパマイシンの応用）についても、神経腫瘍のモデルを用いて研究を展開しています。
Figures are computed from collected data and may differ slightly.
Consumption of coffee, green tea and oolong tea and total caffeine intake was associated with a reduced risk of mortality from CVD.
Our data suggest that there is a major gene locus for autosomal dominant moyamoya disease on chromosome 17q25.3.
The mode of inheritance of F-MMD is autosomal dominant with incomplete penetrance. Thus, in future genetic studies on F-MMD, parametric linkage analyses using large families with an autosomal dominant mode of inheritance are recommended. Genomic imprinting may be associated with the disease.
Moyamoya disease is an idiopathic chronically progressive cerebrovascular disease, which causes both ischemic and hemorrhagic stroke. Genetic studies identified <i>RNF213</i>/<i>Mysterin</i> and <i>GUCY1A3</i> as disease-causing genes. They were also known to be associated with non-moyamoya intracranial large artery disease, coronary artery disease and pulmonary artery hypertension. This review focused on these two molecules and their strong linker, calcineurin/NFAT signaling and caveolin to und
The RNF213 p.R4810K variant appears to be significantly associated with coronary artery disease in the Japanese population.
The success of immunotherapeutic approaches targeting glioblastoma multiforme (GBM) demands a robust antiglioma T-cell cytotoxic and memory response. Recent evidence suggests that rapamycin regulates T-cell differentiation. Herein, we tested whether administration of rapamycin could enhance the efficacy of immunotherapy utilizing Fms-like tyrosine kinase 3 ligand (Ad-Flt3L) and thymidine kinase/ganciclovir (Ad-TK/GCV). Using the refractory rat RG2 glioma model, we demonstrate that administration
Our results indicate that modifying the tumor microenvironment using intratumoral Ad-Flt3L/Ad-TK-mediated gene therapy potentiates therapeutic efficacy and antitumor immunity induced by DC vaccination. These data support novel phase I clinical trials to assess the safety and efficacy of this combined approach.
vealed two haplotypes carrying p.R4810K: allele A 2 , which is common among patients with MMD, and allele A 1 , which is rare among patients with MMD [6] . The patient inherited an A 1 allele for p.R4810K ( fig. On the other hand, her elder and younger sisters inherited an A 2 allele from their mother for p.R4810K, and no arterial stenosis was identified in either the initial or annual follow-up MRI examinations.
A genomewide scan for IA families with dominant models in Japan confirmed the locus at chromosome 19q13.3, which has also been reported as a candidate locus in a Finnish population.
Investigated polymorphisms in this study were not associated with IA.
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