Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Diane M Dunn"'
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd9339c60faf200ac6ffe2bfe97b06d1
https://doi.org/10.1002/humu.24343
https://doi.org/10.1002/humu.24343
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/
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
Autor:
Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189664 (2017)
The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of
Externí odkaz:
https://doaj.org/article/9aa99d0d1f1e4d13b736b141104e6446
Publikováno v:
PLoS ONE, Vol 12, Iss 11, p e0187773 (2017)
Cigarette smoking (CS) is a principal contributor to a spectrum of devastating lung diseases whose occurrence and severity may vary between individuals and not appear for decades after prolonged use. One explanation for the variability and delay in d
Externí odkaz:
https://doaj.org/article/b0fc045f62d24e86b4f4c7e7116b8bf0
Autor:
Roxane Alles, Veronica J. Vieland, Robert B. Weiss, Megan A. Waldrop, John Burian, Paul T. Martin, Kevin M. Flanigan, Sang-Cheol Seok, Diane M. Dunn, Melissa Moore-Clingenpeel, Lindsay N. Alfano, Tabatha R. Simmons
The major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene (DMD) mutation disrupts the mRNA reading frame or allows expression of a pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b1f6360f4a63fecf3342e07518ca40
https://doi.org/10.1101/2021.11.03.21265887
https://doi.org/10.1101/2021.11.03.21265887
Autor:
John Burian, Lindsay N. Alfano, Tabatha R. Simmons, Roxane Alles, Robert B. Weiss, Melissa Moore-Clingenpeel, Diane M. Dunn, Sang-Cheol Seok, Kevin M. Flanigan, Veronica J. Vieland, Paul T. Martin, Megan A. Waldrop
Although the major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene (DMD) mutation disrupts the mRNA reading frame or allows expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bf8e8ccebe283ed9b7285e320376e61
https://doi.org/10.1101/2021.11.03.21265899
https://doi.org/10.1101/2021.11.03.21265899
Autor:
Diane M. Dunn, Robert B. Weiss, Megan A. Waldrop, Nicolas Wein, Emma C Frair, Kevin M. Flanigan, Liubov V Gushchina
Publikováno v:
Human Gene Therapy.
Exon skipping therapies for Duchenne muscular dystrophy that restore an open reading frame can be induced by the use of non-coding U7 small nuclear RNA (U7snRNA) modified by an antisense exon-targeting sequence delivered by an adeno-associated virus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d9ed0eeb9fb795c5605d09bd17f05f1b
https://doi.org/10.1089/hum.2020.315
https://doi.org/10.1089/hum.2020.315
Autor:
Nicolas, Wein, Diane M, Dunn, Megan A, Waldrop, Liubov V, Gushchina, Emma C, Frair, Robert B, Weiss, Kevin M, Flanigan
Publikováno v:
Human gene therapy. 32(21-22)
Exon skipping therapies for Duchenne muscular dystrophy that restore an open reading frame can be induced by the use of noncoding U7 small nuclear RNA (U7snRNA) modified by an antisense exon-targeting sequence delivered by an adeno-associated virus (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d729ce8ecef49001653a5610ea1c3941
https://pubmed.ncbi.nlm.nih.gov/34060935
https://pubmed.ncbi.nlm.nih.gov/34060935