Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Alec M. DeSimone"'
Autor:
Justin Cohen, Shushu Huang, Katherine E. Koczwara, Kristen T. Woods, Vincent Ho, Keryn G. Woodman, Jack L. Arbiser, Katelyn Daman, Monkol Lek, Charles P. Emerson, Alec M. DeSimone
Publikováno v:
Cell Death and Disease, Vol 14, Iss 11, Pp 1-12 (2023)
Abstract Facioscapulohumeral muscular dystrophy (FSHD) is among the most common of the muscular dystrophies, affecting nearly 1 in 8000 individuals, and is a cause of profound disability. Genetically, FSHD is linked to the contraction and/or epigenet
Externí odkaz:
https://doaj.org/article/cfe51ae4c4fd43efbd0f592112c8ab39
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 10 (2020)
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy and presents with weakness of the facial, scapular and humeral muscles, which frequently progresses to the lower limbs and truncal areas, causing prof
Externí odkaz:
https://doaj.org/article/1547ba23a69a4511ade369dd9ca42413
Publikováno v:
Trends Mol Med
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying genetics and poor mechanistic understanding has caused a bottleneck in therapeutic
Publikováno v:
Trends in genetics : TIG. 38(9)
Neuromuscular disorders (NMDs) are a wide-ranging group of diseases that seriously affect the quality of life of affected individuals. The development of next-generation sequencing revolutionized the diagnosis of NMD, enabling the discovery of hundre
Autor:
James Conner, Oliver D. King, Angela Lek, Monkol Lek, Lillian Mead, Kathryn R. Wagner, Keryn G. Woodman, Vincent T. Ho, Neville E. Sanjana, Justin B. Cohen, Shushu Huang, Louis M. Kunkel, Peter L. Jones, Anna Pakula, Yuanfan Zhang, Andrew Kodani, Alec M. DeSimone
Publikováno v:
Sci Transl Med
The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of therapeutic discovery for genetic disorders. Here, we demonstrate the utility
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e95707ef4e2ef15d8ed9c5251b18b7b
https://europepmc.org/articles/PMC7304480/
https://europepmc.org/articles/PMC7304480/
Publikováno v:
Science Advances
Inhibition of HA synthesis blocks DUX4-induced pathologies.
Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic derepression of the germline/embryonic transcription factor DUX4 in skeletal muscle. However, the etiology of muscl
Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic derepression of the germline/embryonic transcription factor DUX4 in skeletal muscle. However, the etiology of muscl
Publikováno v:
Comprehensive Physiology
Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically
Autor:
Luciana Ferraris, Dean Tantin, Alec M. DeSimone, Matthew Gemberling, William G. Fairbrother, Allan P. Stewart, Jinsuk Kang
Publikováno v:
Genome Research. 21:1055-1064
The pluripotency control regions (PluCRs) are defined as genomic regions that are bound by POU5F1, SOX2, and NANOG in vivo. We utilized a high-throughput binding assay to record more than 270,000 different DNA/protein binding measurements along incre
Autor:
Jeffrey D. Laney, Alec M. DeSimone
Publikováno v:
Molecular and Cellular Biology. 30:3342-3356
Switching between alternate states of gene transcription is fundamental to a multitude of cellular regulatory pathways, including those that govern differentiation. In spite of the progress in our understanding of such transitions in gene activity, a
Autor:
William G. Fairbrother, Janice S Shih, Madeleine E. Filloux, Alec M. DeSimone, Allison J Taggart
Publikováno v:
Nature structuralmolecular biology. 19(7)
We present the first large-scale identification of lariats—the transient branched introns that are released as a byproduct of pre-mRNA splicing. The locations of the branchpoints in these introns provide insight into the early steps of splicing. Fr