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Nishimura, Gen,Dai, Jin,Lausch, Ekkehart,Unger, Sheila,Megarbané,, André,Kitoh, Hiroshi,Kim, Ok Hwa,Cho, Tae-Joon,Bedeschi, Francesca,Benedicenti, Francesco,Mendoza-Londono, Roberto,Sileng Wiley Subscription Services, Inc., A Wiley Company 2010 AMERICAN JOURNAL OF MEDICAL GENETICS PART A Vol.a152 No.6
<P>Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This family comprises, in order of increasing severity, dominant brachyolmia, spondylo-metaphyseal dysplasia Kozlowski type, and metatropic dysplasia. We tested the hypothesis that a further condition, Spondylo-epiphyseal dysplasia (SED), Maroteaux type (MIM 184095; also known as pseudo-Morquio syndrome type 2), could be caused by TRPV4 mutations. We analyzed six individuals with Maroteaux type SED, including three who had previously been reported. All six patients were found to have heterozygous TRPV4 mutations; three patients had unreported mutations, while three patients had mutations previously described in association with metatropic dysplasia. In addition, we tested one individual with a distinct rare disorder, parastremmatic dysplasia (MIM 168400). This patient had a common, recurrent mutation seen in several patients with Kozlowski type spondylo-metaphyseal dysplasia. We conclude that SED Maroteaux type and parastremmatic dysplasia are part of the TRPV4 dysplasia family and that TRPV4 mutations show considerable variability in phenotypic expression resulting in distinct clinical-radiographic phenotypes. © 2010 Wiley-Liss, Inc.</P>
Qi Sun,Haijun Kang,Bo Chang,David Lausch 서울대학교 교육연구소 2019 Asia Pacific Education Review Vol.20 No.4
U.S. host campuses face instructional challenges from increasing numbers of international students from Confucian Heritage Culture (CHC) countries. Yet, the presence of CHC students offers learning opportunities for U.S. faculty in the context of internationalizing their higher education campuses. This study surveyed faculty at three U.S. host universities. It explored faculty understandings of Confucian culture, their perceptions of CHC countries’ international student learning, strategies used by faculty when teaching CHC students, and value faculty recognized when learning from CHC students. Results showed that a majority of faculty recognized the core values of Confucian culture. Yet, they were not fully aware of the cultural impact on CHC students’ learning, and the strategies they employed were mainly from the American perspectives. They did not integrate CHC students’ cultural heritages in their teaching practices and only partially accommodated CHC learners in teaching. This study calls for consciousness to transform faculty mindsets understanding the importance of students’ cultural differences in order to bring about a dramatic change in their teaching practices. Doing so may enhance the success of CHC students fomenting further internationalization at their host universities.
Li, Xiaopeng,Xiao, Yanjun,Bang, Jin Ho,Lausch, Dominik,Meyer, Sylke,Miclea, Paul‐,Tiberiu,Jung, Jin‐,Young,Schweizer, Stefan L.,Lee, Jung‐,Ho,Wehrspohn, Ralf B. WILEY‐VCH Verlag 2013 ADVANCED MATERIALS Vol.25 No.23
<P><B>Through metal‐assisted chemical etching (MaCE), superior purification of dirty Si is observed</B>, from 99.74 to 99.9884% for metallurgical Si and from 99.999772 to 99.999899% for upgraded metallurgical Si. In addition, large area of silicon nanowires (SiNW) are fabricated. The purification effect induces a ∼35% increase in photocurrent for SiNW based photoelectrochemical cell.</P>