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( Kandai Nozu ),( Yutaka Takaoka ),( Hirofumi Kai ),( Minoru Takasato ),( Kensuke Yabuuchi ),( Tomohiko Yamamura ),( Tomoko Horinouchi ),( Nana Sakakibara ),( Takeshi Ninchoji ),( China Nagano ),( Kaz 대한신장학회 2020 Kidney Research and Clinical Practice Vol.39 No.4
Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing loss and ocular abnormalities. There are three forms of AS depending on inheritance mode: X-linked Alport syndrome (XLAS), autosomal recessive AS (ARAS), and autosomal dominant AS (ADAS). XLAS is caused by pathogenic variants in COL4A5, which encodes type IV collagen α5 chain, while ADAS and ARAS are caused by variants in COL4A3 or COL4A4, which encode type IV collagen α3 or α4 chain, respectively. In male XLAS or ARAS cases, end-stage kidney disease (ESKD) develops around a median age of 20 to 30 years old, while female XLAS or ADAS cases develop ESKD around a median age of 60 to 70 years old. The diagnosis of AS is dependent on either genetic or pathological findings. However, determining the pathogenicity of the variants detected by gene tests can be difficult. Recently, we applied the following molecular investigation tools to determine pathogenicity: 1) in silico and in vitro trimer formation assay of α345 chains to assess triple helix formation ability, 2) kidney organoids constructed from patients’ induced pluripotent stem cells to identify α5 chain expression on the glomerular basement membrane, and 3) in vitro splicing assay to detect aberrant splicing to determine the pathogenicity of variants. In this review article, we discuss the genetic background and novel assays for determining the pathogenicity of variants. We also discuss the current treatment approaches and introduce exon skipping therapy as one potential treatment option.
The Myth of the “New Phoenicians" : Are Lebanese People Really Cosmopolitan?
Masaki Mizobuchi,Yutaka Takaoka 부산외국어대학교 지중해지역원 2013 The Mediterranean Review Vol.6 No.1
Most previous studies have assumed the following hypothesis: the Lebanese diaspora continues to have strong attachments to the homeland based on close networks of personal connections, and almost all Lebanese have a strong interest in foreign countries through such networks. That is why the Lebanese have come to be commonly known as the “New Phoenicians.” Furthermore, the large amount of remittances from the Lebanese diaspora has been pointed out by almost all previous studies as clear evidence of such networks. The BCRI’s “Middle East Opinion Poll (Lebanon 2010)” and the “Middle East Opinion Poll (Lebanon 2012),” conducted in collaboration with our Japanese research team, however, presented a serious challenge to the common belief. Thus, we conclude that the widespread image of the Lebanese as “New Phoenicians” represents only a small segment of society; in contrast, the majority of middle- or low-income Lebanese do not receive any benefit from such global networks. Keywords: Lebanon, Lebanese Diaspora, Migration, Economic Polarization, Opinion Poll