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- 검색키워드
- 저자 : ( Nguyen Thi Mai Lien ) (검색결과 2 건)
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Nguyen Thu Hien,Nguyen Duc Quan,Kim Lien Nguyen Thi,Thi Thanh Ngan Nguyen,Nguyen Thi Phuong Mai,Tran Ngoc Dung,Nguyen Huy Hoang 한국유전학회 2023 Genes & Genomics Vol.45 No.4
Background Androgens and androgen receptor (AR) are critical regulators of the masculinization process in male sexual development. The absence of a functioning AR results in the development of the androgen insensitivity syndrome (AIS), a rare disorder of sexual development (DSD) characterized by the external genitalia feminization, gynecomastia, and impaired spermatogenesis. Objective To determine the AR gene mutations associated with male DSD in four unrelated Vietnamese patients. Methods To detect the disease-causing mutations, whole exome sequencing (WES) was performed on four patients diagnosed with AIS. Sanger sequencing was then used for validation of the identified mutations. Finally, 12 web-based tools, three-dimensional protein modeling software, and the guidelines issued by the American College of Medical Genetics and Genomics were used to assess the potential pathogenicity of these mutations. Results Four distinct novel mutations, namely c.1834T > A (p.Cys612Ser), c.2122 C > G (p.Leu708Val), c.2630T > G (p.Phe877Cys), and c.2641 C > A (p.Leu881Met) in the AR gene, were identified in four AIS patients using WES. The in silico analysis results revealed that the Cys612, Leu708, Phe877, and Leu881 sites are important for an appropriate response to androgens of the AR, and mutation at these sites can have adverse effects on the AR functions, androgen–AR interaction, and AR signaling pathway. Conclusions WES and in silico analyses strongly suggested that four novel AR mutations are pathogenic and have led to the development of AIS in the four Vietnamese patients under consideration.
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( Nguyen Thi Mai Lien ),( Thanh Duc Hong Ha ) 부산외국어대학교 아세안연구원 2022 Suvannabhumi Vol.14 No.1
Nguyễn Nhật Ánh and Yoshimoto Banana are authors from two different literary movements, cultures, and countries. Their works are all best-sellers and have received many prestigious awards. Comparing their works from the perspective of shoujo manga, we can see that there are many similarities between them. Regarding the concept of composition, they all want to create works that are accessible to the majority of the public. Therefore, they choose topics which are close and attractive to mass readers as well as simple style, characters, literary devices, artistic space and time that are famous in shoujo - a popular art form of Japan. However, the ideological content in the works of both is not explicit and simple, but expresses the eternal feelings and values of humanity such as love for people, love for the homeland, country, reflecting the depths of both the conscious and the subconscious as well as profound aesthetic and philosophical values, profound aesthetic and philosophical values. Their works present the trend of interference between popular culture and elite literature. We can draw lessons for young writers, cultural managers and a wide audience from the success of these two writers.
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