Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Efrain Sanchez-Ortiz"'
Autor:
Yu Zhang, Hui Li, Takahiko Nishiyama, John R. McAnally, Efrain Sanchez-Ortiz, Jian Huang, Pradeep P.A. Mammen, Rhonda Bassel-Duby, Eric N. Olson
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 525-537 (2022)
Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disease caused by mutations in the X-linked dystrophin (DMD) gene. Exon deletions flanking exon 51, which disrupt the dystrophin open reading frame (ORF), represent one of the most common ty
Externí odkaz:
https://doaj.org/article/8f85bc1de0294f5dae39c44e2af2513a
Autor:
Yu Zhang, Takahiko Nishiyama, Hui Li, Jian Huang, Ayhan Atmanli, Efrain Sanchez-Ortiz, Zhaoning Wang, Alex A. Mireault, Pradeep P.A. Mammen, Rhonda Bassel-Duby, Eric N. Olson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss , Pp 122-132 (2021)
Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene, is a lethal neuromuscular disease. Correction of DMD mutations in animal models has been achieved by CRISPR/Cas9 genome editing using Streptococcus pyogenes Cas9
Externí odkaz:
https://doaj.org/article/f687232ad75d4bad97c0326b10f1b620
Autor:
Leonela Amoasii, Hui Li, Yu Zhang, Yi-Li Min, Efrain Sanchez-Ortiz, John M. Shelton, Chengzu Long, Alex A. Mireault, Samadrita Bhattacharyya, John R. McAnally, Rhonda Bassel-Duby, Eric N. Olson
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)
Dystrophin-deficient mice are used to test corrective strategies for Duchenne muscular dystrophy, but evaluation of dystrophin expression requires collection of tissue samples from specific muscles and time points. Here, the authors generate mice in
Externí odkaz:
https://doaj.org/article/3998bffcfb4f49da8616481acc9f1799
Autor:
Takahiko Nishiyama, Yu Zhang, Miao Cui, Hui Li, Efrain Sanchez-Ortiz, John R. McAnally, Wei Tan, Jiwoong Kim, Kenian Chen, Lin Xu, Rhonda Bassel-Duby, Eric N. Olson
Publikováno v:
Sci Transl Med
Mutations in RNA binding motif protein 20 ( RBM20 ) are a common cause of familial dilated cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS-rich) domain, which mediates nuclear localization. These mutations induce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c6543fcc0f1acf82f943805d0b0f971
https://europepmc.org/articles/PMC10088465/
https://europepmc.org/articles/PMC10088465/
Autor:
Hui Li, Rhonda Bassel-Duby, Yu Zhang, Pradeep P.A. Mammen, Eric N. Olson, Takahiko Nishiyama, Jian Huang, Alex A. Mireault, Zhaoning Wang, Efrain Sanchez-Ortiz, Ayhan Atmanli
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 22, Iss, Pp 122-132 (2021)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Duchenne muscular dystrophy (DMD), caused by mutations in the X-linked dystrophin gene, is a lethal neuromuscular disease. Correction of DMD mutations in animal models has been achieved by CRISPR/Cas9 genome editing using Streptococcus pyogenes Cas9
Autor:
Joel K. Elmquist, Leonela Amoasii, Teppei Fujikawa, Eric N. Olson, Rhonda Bassel-Duby, Efrain Sanchez-Ortiz
Publikováno v:
Proceedings of the National Academy of Sciences. 116:11299-11308
Skeletal muscle plays a central role in the control of metabolism and exercise tolerance. Analysis of muscle enhancers activated after exercise in mice revealed the orphan nuclear receptor NURR1/NR4A2 as a prominent component of exercise-responsive e
Autor:
Efrain Sanchez-Ortiz, A. C. Chai, Hui Li, Ning Liu, Rhonda Bassel-Duby, Eric N. Olson, Ayhan Atmanli, Alex A. Mireault, Francesco Chemello, Cristina Rodriguez-Caycedo
Publikováno v:
Science Advances
Base and prime genome editing correct Duchenne muscular dystrophy mutations to restore dystrophin in mice and human cells.
Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by the lack of dystrophin, which maintains muscle membr
Duchenne muscular dystrophy (DMD) is a fatal muscle disease caused by the lack of dystrophin, which maintains muscle membr
Autor:
Eric N. Olson, Lauren Duan, Akansha M. Shah, Lin Xu, Zhaoning Wang, Ning Liu, Hui Li, Efrain Sanchez-Ortiz, Kenian Chen, Wei Tan, Miao Cui, Rhonda Bassel-Duby
Publikováno v:
Dev Cell
The adult mammalian heart is incapable of regeneration following injury. In contrast, the neonatal mouse heart can efficiently regenerate during the first week of life. The molecular mechanisms that mediate the regenerative response and its blockade
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4dbca914bd2c38fa9405723fc0d736
https://europepmc.org/articles/PMC7365574/
https://europepmc.org/articles/PMC7365574/
Autor:
Alex A. Mireault, Rhonda Bassel-Duby, Yi Li Min, Yu Zhang, Hui Li, Eric N. Olson, John R. McAnally, Francesco Chemello, Cristina Rodriguez-Caycedo, John M. Shelton, Efrain Sanchez-Ortiz
Publikováno v:
Mol Ther
Duchenne muscular dystrophy (DMD), one of the most common neuromuscular disorders of children, is caused by the absence of dystrophin protein in striated muscle. Deletions of exons 43, 45, and 52 represent mutational "hotspot" regions in the dystroph
Autor:
Rhonda Bassel-Duby, Efrain Sanchez-Ortiz, Richard J. Piercy, John M. Shelton, Eric N. Olson, Claire Massey, Hui Li, Alex A. Mireault, Thaleia-Rengina Stathopoulou, R. Harron, Daniel Caballero, Leonela Amoasii, John C. W. Hildyard
Publikováno v:
Science. 362:86-91
Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essential structur