지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 1 - 7 (7page)
이용수
초록· 키워드
오류제보하기
GJB2 alleles containing two cis mutations have been rarely found in non-syndromic hearing loss. Herein, we present a Korean patient with non-syndromic hearing loss caused by the R75Q cis mutation with V37I, which arose de novo in the father and was inherited by the patient. Biochemical coupling and hemichannel permeability assays were performed after molecular cloning and transfection of HEK293T cells. Student’s t-tests or analysis of variance followed by Tukey’s multiple comparison test was used as statistical analysis. Biochemical coupling was significantly reduced in connexin 26 (Cx26)-R75Q- and Cx26-V37I-transfected cells, with greater extent in Cx26-R75Q and Cx26-R75Q+V37I cells. Interestingly, our patient and his father with the mutations had more residual hearing compared with patients with the dominant mutation alone. Although the difference in hemichannel activity between R75Q alone and R75Q in combination with V37I failed to reach significance, it is of note that there is a possibility that V37I located upstream of R75Q might have the ability to ameliorate R75Q expression. Our study emphasizes the importance of cis mutations with R75Q, as the gene effect of R75Q can be modulated depending on the type of additional mutation.
목차
등록된 정보가 없습니다.
참고문헌 (17)
참고문헌 신청
Biasini M / 2014 / SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information / Nucleic Acids Res 42 : W252 ~ W258
Bicego M / 2006 / Pathogenetic role of the deafness-related M34T mutation of Cx26 / Hum Mol Genet 15 : 2569 ~ 2587
Bruzzone R / 2003 / Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness / FEBS Lett 533 : 79 ~ 88
Choi SY / 2009 / Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss / Hum Mutat 30 : E716 ~ E727
Choi SY / 2011 / Functional evaluation of GJB2 variants in nonsyndromic hearing loss / Mol Med 17 : 550 ~ 556
Bicego M / 2006 / Pathogenetic role of the deafness-related M34T mutation of Cx26 / Hum Mol Genet 15 : 2569 ~ 2587
Bruzzone R / 2003 / Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness / FEBS Lett 533 : 79 ~ 88
Choi SY / 2009 / Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss / Hum Mutat 30 : E716 ~ E727
Choi SY / 2011 / Functional evaluation of GJB2 variants in nonsyndromic hearing loss / Mol Med 17 : 550 ~ 556
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Effects of the order of mutations in network dynamics
한국정보과학회 학술발표논문집
2017 .06
-
The shaping of cancer genomes with the regional impact of mutation processes
Experimental and Molecular Medicine
2022 .07
-
Degradation and modification of cochlear gap junction proteins in the early development of age-related hearing loss
Experimental and Molecular Medicine
2020 .01
-
Somatic mutations in disorders with disrupted brain connectivity
Experimental and Molecular Medicine
2016 .01
-
HEMU-430X 열차 터널 주행 시 CX 팬터그래프의 접촉력 안정성 평가
한국전산유체공학회지
2018 .03
-
표면 플라스몬 공명을 이용한 TP53의 점돌연변이 검출
대한기계학회 춘추학술대회
2015 .11
-
공기역학적 불확실성을 고려한 CX 팬터그래프의 접촉력 안정성 평가
한국전산유체공학회지
2021 .03
-
A Novel Computational Approach to Predict Metabolites Associated with Somatic Mutations in Cancers
한국생물공학회 학술대회
2022 .09
-
Rapid Insertion Mutation Detection with Exponential Amplification (EXPAR) Triggered by CRISPR-Cas9 System
한국생물공학회 학술대회
2020 .06
-
High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients
Experimental and Molecular Medicine
2017 .01
-
HEMU-430X 열차 개활지 주행 시 CX 팬터그래프의 접촉력 안정성 평가
한국전산유체공학회지
2017 .12
-
Classification of Driver Gene Mutations from 3D-CT Images Based on Radiomics Features
제어로봇시스템학회 국제학술대회 논문집
2023 .10
-
딥러닝을 이용한 음성기반의 난청 인식 연구
대한전자공학회 학술대회
2023 .06
-
Computational Mutation Design of Inducing Protein-Protein Interaction
한국생물공학회 학술대회
2023 .04
-
KTX용 팬터그래프(CX-PG)의 기계적 성능 개선 설계
한국에너지학회 학술발표회
2015 .11
-
Combinatorial Mutation on ω-Transaminase to Improve Performance for Bulky Substrates
한국생물공학회 학술대회
2019 .04
-
신규변이 탐지 소프트웨어 도구의 비교 분석
한국정보과학회 학술발표논문집
2015 .06
-
Improvement of Solubility and Activity of Tobacco Etch Virus (TEV) Protease by Multiple Mutations
한국생물공학회 학술대회
2021 .04
-
A Computational Study of the Efficacy of Mexiletine Therapy on Patients with A1656D Mutation Using a 3D Cardiac Electrophysiological Model
대한기계학회 춘추학술대회
2022 .04
이 논문의 저자 정보
최근 본 자료
댓글(0)
0