Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene

浜松医科大学博士（医学）doctoral医学系研究科Although partial androgen insensitivity syndrome (PAIS) is caused by attenuated responsiveness to androgens, androgen receptor gene (AR) mutations on the coding regions and their splice sites have been identified only in A). This variant created the splice acceptor motif that was accompanied by pyrimidine-rich sequence and two candidate branch sites. Consistent with this, reverse transcriptase (RT)-PCR experiments for cycloheximidetreated lymphoblastoid cell lines revealed a relatively large amount of aberrant mRNA produced by the newly created splice acceptor site and a relatively small amount of wildtype mRNA produced by the normal splice acceptor site. Furthermore, most of the aberrant mRNA was shown to undergo nonsense mediated decay (NMD) and, if a small amount of aberrant mRNA may have escaped NMD, such mRNA was predicted to generate a truncated AR protein missing some functional domains. These findings imply that the deep intronic mutation creating an alternative splice acceptor site resulted in the production of a relatively small amount of wildtype AR mRNA, leading to PAIS.doctoral thesi

Synthesis and photoluminescence of ferritin protein encapsulated rare earth nanoparticles

明治大学博士（理学）Article2014doctoral thesi

Urbanization in Narashino-Shi viewd from the Population phenomena

短報Short Articlesdepartmental bulletin pape

A Survey of Khünkhüree Sites in Mongolia and Their Significance : A Basic Study on the “Konggulie granary” of the Yuan Dynasty

モンゴル高原は，そのすべてが遊牧に適した水や草の豊かな地帯ではない。 険しい山地や乾燥地が広範囲にみられ，その中に遊牧可能な小地域がパッチ状 に点在しているのが実像である。モンゴル高原に成立した歴代の遊牧国家の版 図は，一見すると広大だが，じつはこのような小地域の集合体と考えた方がよ かろう。遊牧だけでなく，農耕や手工業も，このような限られた生活空間でお こなわれていた。一つ一つの小地域が自立あるいは他地域の欠落点を補完しな がら，有機的に結合することによって，遊牧国家の領域が成り立っていたと考 える。そうであるならば，それぞれの小地域内の自然環境や生産力，歴史的変 遷などを知ることで，遊牧国家の興亡の背景の一端が明らかになるはずだ。 　このような視点に立って筆者らは，モンゴル国ウブルハンガイ県フンフレー 地区で調査をおこなった。そこはゴビ地帯にあるオアシスで，13 ～ 14 世紀の 遺跡があり，文献史料にも登場する。考古学，歴史学，地理学などが協力して 学際的にアプローチできる，格好の地域といえる。 　その結果，この地域はモンゴル帝国時代には「孔古烈」とよばれ，豊富な湧 水を利用して，モンゴル高原の中心地カラコルムへ食糧を供給した農耕地帯で あったことがわかった。あわせて，この地はゴビ砂漠の南北縦断路と，アルタ イ山脈北麓を通るモンゴル高原の東西横断路の交点で，交通の要衝であるとと もに，軍事的攻防の舞台であった。これらのことから，今後モンゴル帝国の興 亡史を研究する上で重要な地域になると指摘した。Not all areas of the Mongol plateau are rich in water and grass, vital for nomads. Steep mountainous regions and arid terrain stretching for miles are dotted with small parcels of land where nomads can survive. The territory of the successive generations of nomadic states which established themselves on the Mongol plateau may appear vast at first glance, but it should really be considered as a collection of these small parcels. Not only nomadism, but also farming and cottage industries were carried on in these restricted living spaces. Probably the nomadic states were formed by organic bonding among small areas as individual parcels became self-reliant or could provide what another parcel lacked. If this is the case, then by analyzing aspects such as the natural environment, productive strength and historical transformation within each individual parcel, we should be able to throw light on the background to the rise and fall of the nomadic states. From this perspective, the authors investigated the Khünkhüree district in Mongolia’s Övörkhangai Prefecture. In an oasis in the Gobi region, there are remains from the 13th–14th centuries which are also mentioned in written records. This area is well-suited to an interdisciplinary approach by archaeology, historical study and geography. As a result, we discovered that the area was called Konggulie during the period of the Mongol empire and was a farming area, utilizing abundant underground water, which supplied provisions to Kharakhorum in the center of the Mongol plateau. The area lay at the crossroads between the route which cut through the Gobi desert from north to south and the route which ran eastwest across the Mongol plateau past the northern foothills of the Altai mountain range. We show that as well as being a strategic point for traffic, the fact that it was a stage for military attack and defense makes it an important area for future research into the history of the rise and fall of the Mongol empire.departmental bulletin pape

Development of Learning Program of “Measurement and Control Study by Program” using Autonomous Robot Teaching Materials.

text紀要論文 / Departmental Bulletin Paperdepartmental bulletin pape

Measurement of neutrino oscillation by the K2K experiment

journal articl

男性看護師の性差の強みと困難を伴う経験から得た気づきの考察 －男性看護師へのインタビューを通して－

departmental bulletin pape

オイディプスの呪い -叙事詩と悲劇-

2000-03-31departmental bulletin pape

Di-nuclear molecular states in oblate-oblate system

journal articl

Stress-Induced Phosphorus-Segregation and Intergranular Cracking in Welded Zone of 1Cr-1/2Mo Steel

application/pdfReheat cracking is used to occur in HAZs of Cr-Mo steels during reheating at the time the grain boundary is weekend by the phosphorus segregation. In this research, the effects of applied stress, and reheating time and temperature on the grain boundary weakening were clarified on HAZ of 1Cr-1/2Mo steel. A reheat cracking test and, metallurgical examination including grain boundary etching were carried out. Much attention was paid on the relation between the angle of each grain boundary line to the stress, and its phosphorus concentration. The following results were ontained. (1)In the temperature-raising process with a heating rate of 200K/hr, phosphorus concentration of grain boundary becomes maximum at 823K. (2)In the temperature-holding process in the range of 773 to 873K, the maximum value of phosphorus concentration is observed at 823K for 5 hours. (3)The phosphorus concentration is decreased by continuous heating up to 873K or by holding at 823K for a prolonged time. At this time period, the HAZ recovers from the weakened state. (4)The stress will intensity the phosphorus segregation in grain boundary by its direct action or by its indirect action of producing sliding at grain boundary. This mechanism was discussed in detail.departmental bulletin pape