| LDR | | 01976nmm uu200397 4500 |
| 001 | | 000000331767 |
| 005 | | 20240805165325 |
| 008 | | 181129s2018 |||||||||||||||||c||eng d |
| 020 | |
▼a 9780438386280 |
| 035 | |
▼a (MiAaPQ)AAI10935655 |
| 035 | |
▼a (MiAaPQ)wisc:15791 |
| 040 | |
▼a MiAaPQ
▼c MiAaPQ
▼d 248032 |
| 082 | 0 |
▼a 612 |
| 100 | 1 |
▼a Smelter, Dan F. |
| 245 | 10 |
▼a Defining the Pathomechanisms through which Missense Mutations in the Central Domains of cMyBP-C Cause Hypertrophic Cardiomyopathy. |
| 260 | |
▼a [S.l.] :
▼b The University of Wisconsin - Madison.,
▼c 2018 |
| 260 | 1 |
▼a Ann Arbor :
▼b ProQuest Dissertations & Theses,
▼c 2018 |
| 300 | |
▼a 147 p. |
| 500 | |
▼a Source: Dissertation Abstracts International, Volume: 80-02(E), Section: B. |
| 500 | |
▼a Adviser: J Carter Ralphe. |
| 502 | 1 |
▼a Thesis (Ph.D.)--The University of Wisconsin - Madison, 2018. |
| 520 | |
▼a 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 |
| 520 | |
▼a 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 |
| 520 | |
▼a Taken together, our data is some of the first to show missense mutations in cMyBP-C cause disease through a mechanism of haploinsufficiency. |
| 590 | |
▼a School code: 0262. |
| 650 | 4 |
▼a Physiology. |
| 690 | |
▼a 0719 |
| 710 | 20 |
▼a The University of Wisconsin - Madison.
▼b Physiology. |
| 773 | 0 |
▼t Dissertation Abstracts International
▼g 80-02B(E). |
| 773 | |
▼t Dissertation Abstract International |
| 790 | |
▼a 0262 |
| 791 | |
▼a Ph.D. |
| 792 | |
▼a 2018 |
| 793 | |
▼a English |
| 856 | 40 |
▼u http://www.riss.kr/pdu/ddodLink.do?id=T15001197
▼n KERIS |
| 980 | |
▼a 201812
▼f 2019 |
| 990 | |
▼a 관리자 |