Search Results - "Cohn, D. R"

Increased polyamines as protective disease modifiers in congenital muscular dystrophy by Kemaladewi, D U, Benjamin, J S, Hyatt, E, Ivakine, E A, Cohn, R D

“…Abstract Most Mendelian disorders, including neuromuscular disorders, display extensive clinical heterogeneity that cannot be solely explained by primary…”
Get full text

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2) by Banka, S., Lederer, D., Benoit, V., Jenkins, E., Howard, E., Bunstone, S., Kerr, B., McKee, S., Lloyd, I.C., Shears, D., Stewart, H., White, S.M., Savarirayan, R., Mancini, G.M.S., Beysen, D., Cohn, R.D., Grisart, B., Maystadt, I., Donnai, D.

“…We describe seven patients with KDM6A (located on Xp11.3 and encodes UTX) mutations, a rare cause of Kabuki syndrome (KS2, MIM 300867) and report, for the…”
Get full text

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine by Bowdin, S.C., Hayeems, R.Z., Monfared, N., Cohn, R.D., Meyn, M.S.

“…Our increasing knowledge of how genomic variants affect human health and the falling costs of whole‐genome sequencing are driving the development of…”
Get full text

Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders by FINANGER HEDDERICK, E. L, SIMMERS, J. L, ANDRES-MATEOS, A. Soleimani E, MARX, R, FILES, D. C, KING, L, CRAWFORD, T. O, CORSE, A. M, COHN, R. D

“…Neuronal nitric oxide synthase (nNOS), normally expressed at the sarcolemmal membrane, is known to be mislocalized to the sarcoplasm in several forms of…”
Get full text

Immunohistochemistry of affected tissue may guide cGVHD treatment decisions by Williams, K M, Ostrow, L W, Loeb, D M, Chung, T, Cohn, R D, Corse, A M, Mammen, A L, Chen, A R

“…Chronic graft-vs-host disease (cGVHD) myositis is a rare complication of hematopoietic SCT, for which the pathogenesis and optimal therapy are unclear. We…”
Get full text

Emissions reductions using hydrogen from plasmatron fuel converters by Bromberg, L, Cohn, D.R, Rabinovich, A, Heywood, J

“…Improvements in internal combustion engine and aftertreatment technologies are needed to meet future environmental quality goals. Systems using recently…”
Get full text

System optimization and cost analysis of plasma catalytic reforming of natural gas by Bromberg, L., Cohn, D.R., Rabinovich, A., Alexeev, N., Samokhin, A., Ramprasad, R., Tamhankar, S.

“…Plasma reforming could provide advantages in hydrocarbon reforming especially in small-to-medium-scale plants and in plants with fast transients. The…”
Get full text

Plasma Reforming of Methane by Bromberg, L, Cohn, D. R, Rabinovich, A, O'Brie, C, Hochgreb, S

“…Thermal plasma technology can be used in the production of hydrogen and hydrogen-rich gases from a variety of fuels. This paper describes experiments and…”
Get full text

Compact plasmatron-boosted hydrogen generation technology for vehicular applications by Bromberg, L, Cohn, D.R, Rabinovich, A, Surma, J.E, Virden, J

“…Onboard hydrogen generation using compact plasmatron devices could provide important new possibilities for reducing pollution from motor vehicles, making use…”
Get full text

Plasma reformer-fuel cell system for decentralized power applications by Bromberg, L., Cohn, D.R., Rabinovich, A.

“…A plasma-driven process is described for the reforming of hydrocarbon fuels into hydrogen-rich gases for use in fuel cells. High temperature non-catalytic…”
Get full text

Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy by Franz, Wolfgang-Michael, Muller, Matthias, Muller, Oliver J, Herrmann, Ralf, Rothmann, Thomas, Cremer, Marion, Cohn, Ronald D, Voit, Thomas, Katus, Hugo A

“…In a systematic analysis of inherited forms of cardiomyopathy, we previously identified a family with X-linked dilated cardiomyopathy characterised by a…”
Get full text

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies by Campbell, Kevin P, Michele, Daniel E, Barresi, Rita, Kanagawa, Motoi, Saito, Fumiaki, Cohn, Ronald D, Satz, Jakob S, Dollar, James, Nishino, Ichizo, Kelley, Richard I, Somer, Hannu, Straub, Volker, Mathews, Katherine D, Moore, Steven A

“…Muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are congenital muscular dystrophies with associated, similar brain…”
Get full text

LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies by Campbell, Kevin P, Barresi, Rita, Michele, Daniel E, Kanagawa, Motoi, Harper, Hollie A, Dovico, Sherri A, Satz, Jakob S, Moore, Steven A, Zhang, Wenli, Schachter, Harry, Dumanski, Jan P, Cohn, Ronald D, Nishino, Ichizo

“…Several congenital muscular dystrophies caused by defects in known or putative glycosyltransferases are commonly associated with hypoglycosylation of…”
Get full text

Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy by Campbell, Kevin P, Moore, Steven A, Saito, Fumiaki, Chen, Jianguo, Michele, Daniel E, Henry, Michael D, Messing, Albee, Cohn, Ronald D, Ross-Barta, Susan E, Westra, Steve, Williamson, Roger A, Hoshi, Toshinori

“…Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome are congenital muscular dystrophies (CMDs) with…”
Get full text

Dog allergen (Can f 1) and cat allergen (Fel d 1) in US homes: Results from the National Survey of Lead and Allergens in Housing by Arbes, Samuel J, Cohn, Richard D, Yin, Ming, Muilenberg, Michael L, Friedman, Warren, Zeldin, Darryl C

“…Exposures to dog and cat allergens are believed to play important roles in the etiology of asthma; however, the levels of these allergens have never been…”
Get full text

National Prevalence and Exposure Risk for Cockroach Allergen in U.S. Households by Cohn, Richard D., Arbes, Samuel J., Jaramillo, Renee, Reid, Laura H., Zeldin, Darryl C.

“…We characterized the prevalence of cockroach allergen exposure in a nationally representative sample of U.S. homes and assessed risk factors for elevated…”
Get full text

Estimate of the Annual Number of Percutaneous Injuries Among Hospital‐Based Healthcare Workers in the United States, 1997–1998 by Panlilio, Adelisa L., Orelien, Jean G., Srivastava, Pamela U., Jagger, Janine, Cohn, Richard D., Cardo, Denise M.

“…To construct a single estimate of the number of percutaneous injuries sustained annually by healthcare workers (HCWs) in the United States. Statistical…”
Get full text

Disruption of Dag1 in Differentiated Skeletal Muscle Reveals a Role for Dystroglycan in Muscle Regeneration by Cohn, Ronald D., Henry, Michael D., Michele, Daniel E., Barresi, Rita, Saito, Fumiaki, Moore, Steven A., Flanagan, Jason D., Skwarchuk, Mark W., Robbins, Michael E., Mendell, Jerry R., Williamson, Roger A., Campbell, Kevin P.

“…Striated muscle-specific disruption of the dystroglycan (DAG1) gene results in loss of the dystrophin-glycoprotein complex in differentiated muscle and a…”
Get full text

Unique Role of Dystroglycan in Peripheral Nerve Myelination, Nodal Structure, and Sodium Channel Stabilization by Saito, Fumiaki, Moore, Steven A, Barresi, Rita, Henry, Michael D, Messing, Albee, Ross-Barta, Susan E, Cohn, Ronald D, Williamson, Roger A, Sluka, Kathleen A, Sherman, Diane L, Brophy, Peter J, Schmelzer, James D, Low, Phillip A, Wrabetz, Lawrence, Feltri, M.Laura, Campbell, Kevin P

“…Dystroglycan is a central component of the dystrophin-glycoprotein complex implicated in the pathogenesis of several neuromuscular diseases. Although…”
Get full text

Economic Study of the Tunable Electron Beam Plasma Reactor for Volatile Organic Compound Treatment by Hadidi, K., Cohn, D.R., Vitale, S., Bromberg, L.

“…A tunable electron beam generated plasma system has been developed for selective cold plasma treatment of dilute concentrations (1-3,000 ppm range) of…”
Get full text