Abstract

Microscopic imaging techniques will be used extensively in all of the proposed MDCRC scientific projects. The purpose of the Muscular Dystrophy Imaging Core is to insure that the proposed scientific projects have facilitated access to the various imaging techniques needed to fulfill their stated aims. This will be accomplished by significantly increasing the imaging capabilities of the Neuromuscular Disease Center's Neuromuscular Pathology Laboratory. In addition, the existing expertise of the Laboratory in handling muscle tissue will be combined to those available in established imaging cores within the institution. The Core will provide access to: 1) specialized muscle histochemical and immunohistochemical techniques, 2) fluorescent in situ hybridization (FISH), 3) confocal microscopy and 4) electron microscopy. Expertise will also be available within the cores to help Center investigators apply other techniques, whose need may arise during the conduct of the proposed studies.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54NS048843-05
Application #
7554063
Study Section
Special Emphasis Panel (ZNS1)
Project Start
Project End
Budget Start
2007-06-01
Budget End
2008-05-31
Support Year
5
Fiscal Year
2007
Total Cost
$283,974
Indirect Cost

  Institution

Name
University of Rochester
Department
Type
DUNS #
041294109
City
Rochester
State
NY
Country
United States
Zip Code
14627

  Publications

Auerbach, David S; Biton, Yitschak; Polonsky, Bronislava et al. (2018) Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. Transl Res 191:81-92.e7
Sznajder, ?ukasz J; Thomas, James D; Carrell, Ellie M et al. (2018) Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A 115:4234-4239
Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne et al. (2018) Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis 13:155
Carrell, Samuel T; Tang, Zhenzhi; Mohr, Sabine et al. (2018) Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase. Nucleic Acids Res 46:e1
Trembley, Michael A; Quijada, Pearl; Agullo-Pascual, Esperanza et al. (2018) Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy. Circulation 138:1864-1878
Jauvin, Dominic; Chrétien, Jessina; Pandey, Sanjay K et al. (2017) Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. Mol Ther Nucleic Acids 7:465-474
Skov, Martin; Dirksen, Robert T (2017) Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease. J Gen Physiol 149:49-53
Pinto, Belinda S; Saxena, Tanvi; Oliveira, Ruan et al. (2017) Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. Mol Cell 68:479-490.e5
Thornton, Charles A; Wang, Eric; Carrell, Ellie M (2017) Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev 44:135-140
Gadalla, S M; Hilbert, J E; Martens, W B et al. (2017) Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. Eur J Neurol 24:713-718

Showing the most recent 10 out of 88 publications