메뉴 건너뛰기
.. 내서재 .. 알림
소속 기관/학교 인증
인증하면 논문, 학술자료 등을  무료로 열람할 수 있어요.
한국대학교, 누리자동차, 시립도서관 등 나의 기관을 확인해보세요
(국내 대학 90% 이상 구독 중)
로그인 회원가입 고객센터 ENG
주제분류
인문학
인문학 일반 역사학 철학 종교학 어문학 기타 인문학
사회과학
사회과학 일반 경영학 관광학 교육학 군사학 문헌정보학 법학 사회학 신문방송학 심리과학 정치외교학 지리학 행정학 경제학 무역학 인류학 기타 사회과학
자연과학
자연과학 일반 물리학 생물학 생활과학 수학·통계학 천문학 지구과학 화학 기타 자연과학
공학
공학 일반 건축공학 기계공학 산업공학 재료·에너지공학 전기전자공학 조선해양공학 화학공학 컴퓨터학 기타공학
의약학
의학 일반 간호학 수의학 약학 한의학 기초의학 임상의학 기타 의약학
농수해양학
농수해양학 일반 농학 수산학 식품과학 임학 축산학 해상운송학 기타 농수해양학
예술체육학
예술 일반 디자인 미술 미용 사진 음악학 의상 체육 공연매체예술 기타 예술체육학
복합학
학제간연구 과학기술학 뇌인지과학 기술정책 기타 복합학

ENG

추천
검색

논문 기본 정보

자료유형
학술저널
저자정보
Nozu Kandai (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan) Takaoka Yutaka (Division of Medical Informatics and Bioinformatics Kobe University Hospital Kobe Japan) Kai Hirofumi (Department of Molecular Medicine Graduate School of Pharmaceutical Sciences Kumamoto University Kum) Takasato Minoru (RIKEN Center for Biosystems Dynamics Research) Yabuuchi Kensuke (Laboratory for Human Organogenesis RIKEN Center for Biosystems Dynamics Research Kobe Japan) Yamamura Tomohiko (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan) Horinouchi Tomoko (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan) Sakakibara Nana (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan) Ninchoji Takeshi (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan) Nagano China (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan) Iijima Kazumoto (Department of Pediatrics Kobe University Graduate School of Medicine Kobe Japan)
저널정보
대한신장학회 Kidney Research and Clinical Practice Kidney Research and Clinical Practice Vol.39 No.4
발행연도
2020.1
수록면
402 - 413 (12page)

이용수

표지
📌
연구주제
📖
연구배경
🔬
연구방법
🏆
연구결과
AI에게 요청하기
추천
검색

초록· 키워드

오류제보하기
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.
#Alport syndrome #Glomerular basement membrane #Induced pluripotent stem #Splicing

목차

등록된 정보가 없습니다.

참고문헌 (46)

참고문헌 신청
Nozu K / 2019 / A review of clinical characteristics and genetic backgrounds in Alport syndrome / Clin Exp Nephrol 23:158~168 google schola Bekheirnia MR / 2010 / Genotype-phenotype correlation in X-linked Alport syndrome / J Am Soc Nephrol 21:876~883 google schola Gross O / 2002 / Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome : impact on clinical counselling / Nephrol Dial Transplant 17:1218~1227 google schola Jais JP / 2000 / X-linked Alport syndrome : natural history in 195 families and genotype-phenotype correlations in males / J Am Soc Nephrol 11:649~657 google schola Lee JM / 2019 / Features of autosomal recessive Alport syndrome : a systematic review / J Clin Med 8:178 google schola

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!

이 논문의 저자 정보

최근 본 자료

전체보기

댓글(0)

0