Zobrazeno 1 - 10
of 328
pro vyhledávání: '"Robert B. Weiss"'
Autor:
Bret M. Boyd, Ian James, Kevin P. Johnson, Robert B. Weiss, Sarah E. Bush, Dale H. Clayton, Colin Dale
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Evolution results from the interaction of stochastic and deterministic processes that create a web of historical contingency, shaping gene content and organismal function. To understand the scope of this interaction, we examine the relative
Externí odkaz:
https://doaj.org/article/b011fb4130c247cbb0a2993a76810cea
Autor:
Nicolas Wein, Tatyana A. Vetter, Adeline Vulin, Tabatha R. Simmons, Emma C. Frair, Adrienne J. Bradley, Liubov V. Gushchina, Camila F. Almeida, Nianyuan Huang, Daniel Lesman, Dhanarajan Rajakumar, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 279-293 (2022)
Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of
Externí odkaz:
https://doaj.org/article/937ffb28cf15459caaa9793b8cebec7b
Autor:
Camila F. Almeida, Florence Robriquet, Tatyana A. Vetter, Nianyuan Huang, Reid Neinast, Lumariz Hernandez-Rosario, Dhanarajan Rajakumar, W. David Arnold, Kim L. McBride, Kevin M. Flanigan, Robert B. Weiss, Nicolas Wein
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults and affects mainly the skeletal muscle, heart, and brain. DM1 is caused by a CTG repeat expansion in the 3′UTR region of the DMPK gene that sequesters musclebli
Externí odkaz:
https://doaj.org/article/64f77f1950614b9e88620a368751f95d
Autor:
Inès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Kaplan, Kevin M. Flanigan, France Leturcq, Stéphane Blot
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-22 (2020)
Abstract Background Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but th
Externí odkaz:
https://doaj.org/article/4db5e8aca9c9431692a8b17b3323ddbf
Autor:
Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are of
Externí odkaz:
https://doaj.org/article/884a44c305934ddda134cf24be79485e
Autor:
Kevin D. Kohl, Kelly F. Oakeson, Diane Dunn, David K. Meyerholz, Colin Dale, Robert B. Weiss, M. Denise Dearing
Publikováno v:
BMC Genomics, Vol 18, Iss 1, Pp 1-13 (2017)
Abstract Background Harboring foregut microbial communities is considered a key innovation that allows herbivorous mammals to colonize new ecological niches. However, the functions of these chambers have only been well studied at the molecular level
Externí odkaz:
https://doaj.org/article/0fb2d73423774323b8c4ed83f9d2a382
Publikováno v:
bioRxiv
Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the chromosome 4q telomere allowing ectopic expression of theDUX4gene in skeleta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2f5fb623d8296a2d98f90906076e46d
https://europepmc.org/articles/PMC9949141/
https://europepmc.org/articles/PMC9949141/
Autor:
Megan A. Waldrop, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Livja Medne, Richard Finkel, Anne M. Connolly, Thomas O. Crawford, Daniel Drachman, Nicolas Wein, Ali A. Habib, Monika A. Krzesniak‐Swinarska, Craig M. Zaidman, James J. Collins, Manu Jokela, Bjarne Udd, John W. Day, Gloria Ortiz‐Guerrero, Jeff Statland, Russell J. Butterfield, Diane M. Dunn, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Hum Mutat
Human mutation, vol 43, iss 4
Human mutation, vol 43, iss 4
DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA. However, up to 7% of DMD mutations are deep intronic and analysis of muscle-derived RNA is an
Autor:
Alberto A, Zambon, Megan A, Waldrop, Roxane, Alles, Robert B, Weiss, Sara, Conroy, Melissa, Moore-Clingenpeel, Stefano, Previtali, Kevin M, Flanigan
Publikováno v:
Neurology
Background and ObjectivesTo describe the phenotypic spectrum of dystrophinopathy in a large cohort of individuals with DMD exon 2 duplications (Dup2), who may be particularly amenable to therapies directed at restoring expression of either full-lengt
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0175367 (2017)
Nicotine modulates multiple inflammatory responses in the lung through the nicotinic acetylcholine receptor subtype alpha7 (α7). Previously we reported that α7 modulates both the hematopoietic and epithelium responses in the lung to the bacterial i
Externí odkaz:
https://doaj.org/article/6184f33eb6f34ec1bbc690dc3c8a6092