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Defining the Pathomechanisms through which Missense Mutations in the Central Domains of cMyBP-C Cause Hypertrophic Cardiomyopathy
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| 자료유형 | E-Book |
|---|---|
| 개인저자 | Smelter, Dan F. |
| 단체저자명 | The University of Wisconsin - Madison. Physiology. |
| 서명/저자사항 | Defining the Pathomechanisms through which Missense Mutations in the Central Domains of cMyBP-C Cause Hypertrophic Cardiomyopathy. |
| 발행사항 | [S.l.] : The University of Wisconsin - Madison., 2018 |
| 발행사항 | Ann Arbor : ProQuest Dissertations & Theses, 2018 |
| 형태사항 | 147 p. |
| 소장본 주기 | School code: 0262. |
| ISBN | 9780438386280 |
| 일반주기 |
Source: Dissertation Abstracts International, Volume: 80-02(E), Section: B.
Adviser: J Carter Ralphe. |
| 요약 | Cardiac myosin binding protein-C (cMyBP-C) is a functional protein of the cardiac sarcomere that regulates contractility through interactions with the thick and the thin filaments. Mutations in cMyBP-C are the greatest contributor to known cases |
| 요약 | We hypothesized the W792R, R820Q, R820W, Y847H, and P873H missense mutations in the central FnIII domains of cMyBP-C alter domain folding, modifying the overall protein stability. Optimized bacterial expression systems characterized the deleteri |
| 요약 | Taken together, our data is some of the first to show missense mutations in cMyBP-C cause disease through a mechanism of haploinsufficiency. |
| 일반주제명 | Physiology. |
| 언어 | 영어 |
| 기본자료 저록 | Dissertation Abstracts International80-02B(E). Dissertation Abstract International |
| 대출바로가기 | http://www.riss.kr/pdu/ddodLink.do?id=T15001197 |
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| No. | 등록번호 | 청구기호 | 소장처 | 도서상태 | 반납예정일 | 예약 | 서비스 | 매체정보 |
|---|---|---|---|---|---|---|---|---|
| 1 | WE00026094 | 612 | 가야대학교/전자책서버(컴퓨터서버)/ | 대출가능 |
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