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표적유전자 염기서열분석을 이용한 선천성 신 요로 기형의 원인 유전자 탐색
Get PDF학위논문 (박사) -- 서울대학교 대학원 : 의과대학 의학과, 2020. 8. 하일수.Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. The search for genetic causes of CAKUT has led to genetic diagnosis in approximately 5–20% of CAKUT patients from Western countries. In this study, genetic causes of CAKUT in Korean children were sought using targeted exome sequencing (TES) of CAKUT-related genes. A total of 94 patients with CAKUT were recruited. We performed TES of 60 genes that had been reported to cause CAKUT in human or murine models. Copy number variations (CNVs) of targeted genes were assessed using in-house relative comparison method. Pathogenic single nucleotide variants (SNVs) and CNVs were re-confirmed by Sanger sequencing and array comparative genomic hybridization, respectively. We identified genetic causes in 13.8% of the 94 recruited patients. Pathogenic SNVs of five known disease-causing genes, HNF1B, PAX2, EYA1, UPK3A, and FRAS1 were found in 7 cases. Pathogenic CNVs of 6 patients were found in HNF1B, EYA1, and CHD1L. HNF1B mutation was the most common genetic cause and was associated with various renal phenotypes. Genetic abnormality types did not significantly differ according to CAKUT phenotypes. Patients with pathogenic variants of targeted genes had syndromic features more frequently than those without (P <0.001). Kaplan-Meier survival curves showed that the presence of genetic mutations did not affect the renal survival (Log-rank test, P =0.280). This is the first genetic analysis study of Korean patients with CAKUT. We showed that TES could provide a cost-effective means for detecting both SNV and CNV for the genetic diagnosis of CAKUT. However, only one-seventh of patients were found to have pathogenic mutations in known CAKUT-related genes, indicating that there are more CAKUT-causing genes or environmental factors to discover.선천성 신 요로 기형은 소아 만성신질환의 가장 흔한 원인으로 서구 국가에서 약 5-20%에서 유전적 원인이 밝혀졌으나 한국인에서 이에 관한 연구가 없었다. 본 연구는 표적유전자 염기서열분석을 통해 한국 소아 선천성 신 요로 기형 환자에서 유전적 원인을 찾고자 하였다. 문헌 검색을 통해 선천성 신 요로 기형의 원인 유전자로 알려진 60 개의 표적유전자를 선정하였다. 영상검사를 통해 선천성 신 요로 기형으로 진단된 환자 94명을 대상으로 표적유전자 염기서열분석을 시행하여 단일염기변이와 복제수 변이를 확인하였다. 표적유전자 염기서열분석을 통해 밝혀진 단일염기변이와 복제수 변이는 각각 생거 염기서열분석과 배열 비교 유전체 혼성화법으로 확인하였다. 94명의 환자 중 13명 (13.8%)에서 유전적 원인을 확인하였다. 7명의 환자에서는 HNF1B, PAX2, EYA1, UPK3A, FRAS1 유전자의 단일염기변이가 확인되었고 6명의 환자에서는 HNF1B, EYA1, CHD1L 유전자를 포함한 복제수 변이가 확인되었다. HNF1B 유전자 변이가 가장 흔했고 해당 유전자 변이를 가지고 있는 환자는 다양한 형태의 선천성 신 요로 기형과 신장 외 질환을 동반하였다. 유전자 이상의 종류와 선천성 신 요로 기형의 표현형은 연관성이 없었다. 증후군성 선천성 신 요로 기형 환자에서는 유전적 이상이 빈번하였다 (P <0.001). 유전자 이상 여부에 따른 신기능 생존에 차이는 없었다 (Log-rank test, P =0.280). 본 연구는 선천성 신 요로 기형 한국인 환자에서 유전자 이상을 확인한 최초의 연구이다. 선천성 신 요로 기형의 유전자 진단에서 표적유전자 염기서열분석이 단일염기변이와 복제수 변이를 모두 검출하는데 효과적인 방법일 수 있다. 선천성 신 요로 기형 관련 유전자 검사에서 환자의 7분의 1만이 병원성 변이를 갖고 있는 것으로 확인되었기 때문에 향후 밝혀지지 않은 다른 유전자 이상 또는 환경적 요인의 영향을 밝히기 위한 추가적인 연구가 향후 필요하다.Introduction 1
Methods 6
Results 15
Discussion 43
References 52
Abstract in Korean 68
Acknowledgment 70Docto
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
Author Under Sail The Imagination of Jack London, 1893-1902
No full textIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Intro -- Title Page -- Copyright Page -- Dedication -- Contents -- Acknowledgments -- Introduction -- 1. Spirit Truth -- 2. From Absorption to Theatricality and Back Again -- 3. "I Will Build a New Present" -- 4. Sons as Authors -- 5. Fathers as Publishers -- 6. The Daughter as Author -- 7. Lovers as Authors -- 8. At Sea with the Family -- 9. Yellow News, Yellow Stories -- 10. The Return Home -- Notes -- Bibliography -- Index -- About Jay WilliamsIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Description based on publisher supplied metadata and other sources.Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, YYYY. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries
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