Results 21 to 30 of about 127,159 (238)

Therapeutic prospects of exon skipping for epidermolysis bullosa [PDF]

International Journal of Molecular Sciences, 2021
Epidermolysis bullosa is a group of genetic skin conditions characterized by abnormal skin (and mucosal) fragility caused by pathogenic variants in various genes.
Jeroen Bremer, Anna Pasmooij, Sietsma, Robert J., Peter van den Akker, Vermeer, Franciscus C, Hickerson, Robyn P, Hickerson, Robyn P., Pasmooij, Anna M.G., van den Akker, Peter C, Swertz, Morris A., Bremer, Jeroen, Sandilands, Aileen, Robert Sietsma, Henny Lemmink, Bremer, Jeroen; id_orcid, Marieke Bolling, van der Velde, K Joeri, Bolling, Marieke C, Lemmink, Henny H., van der Velde, K. Joeri, Knoers, Nine V A M, Franciscus Vermeer, Swertz, Morris A, Swertz, Morris A; id_orcid, Pasmooij, Anna M G, Aileen Sandilands, Bolling, Marieke C., Vermeer, Franciscus C; id_orcid, Vermeer, Franciscus C., Morris Swertz, van den Akker, Peter C., Lemmink, Henny H, van den Akker, Peter C; id_orcid, Robyn Hickerson, Nine Knoers, Sietsma, Robert J, K. van der Velde, Knoers, Nine V.A.M.   +37 more
core   +7 more sources

SPLICER: a highly efficient base editing toolbox that enables in vivo therapeutic exon skipping [PDF]

Nature Communications
Exon skipping technologies enable exclusion of targeted exons from mature mRNA transcripts, which have broad applications in medicine and biotechnology.
Angelo Miskalis, Shraddha Shirguppe, Jackson Winter, Gianna Elias, Devyani Swami, Ananthan Nambiar, Michelle Stilger, Wendy S. Woods, Nicholas Gosstola, Michael Gapinske, Alejandra Zeballos, Hayden Moore, Sergei Maslov, Thomas Gaj, Pablo Perez-Pinera   +14 more
doaj   +2 more sources

Podocyte specific exon skipping after disease onset improves kidney pathology and function in a mouse model of Alport syndrome [PDF]

Scientific Reports
Alport syndrome (AS) is a hereditary kidney disorder caused by mutations in COL4A3, COL4A4, and COL4A5, which often lead to progressive renal failure.
Kentarou Hashikami, Ryosuke Kobayashi, Ryotaro Hori, Kenta Danbayashi, Yasunori Nio   +4 more
doaj   +2 more sources

Exon Skipping Quantification by Real-Time PCR

, 2012
Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach for subsets of Duchenne muscular dystrophy (DMD) patients to ameliorate the severe DMD phenotype.
FERLINI, Alessandra, Alessandra Ferlini, RIMESSI, Paola, Paola Rimessi   +3 more
core   +3 more sources

Effective exon skipping and dystrophin restoration by 2'-o-methoxyethyl antisense oligonucleotide in dystrophin-deficient mice. [PDF]

PLoS ONE, 2013
Antisense oligonucleotide (AO)-mediated exon-skipping therapy is one of the most promising therapeutic strategies for Duchenne Muscular Dystrophy (DMD) and several AO chemistries have been rigorously investigated. In this report, we focused on the effect
Lu Yang, Hongjing Niu, Xianjun Gao, Qingsong Wang, Gang Han, Limin Cao, Chunquan Cai, Jan Weiler, Haifang Yin   +8 more
doaj   +1 more source

Pairwise Engineering of Tandemly Aligned Self-Splicing Group I Introns for Analysis and Control of Their Alternative Splicing

Biomolecules, 2023
Alternative splicing is an important mechanism in the process of eukaryotic nuclear mRNA precursors producing multiple protein products from a single gene.
Tomoki Ueda, Kei-ichiro Nishimura, Yuka Nishiyama, Yuto Tominaga, Katsushi Miyazaki, Hiroyuki Furuta, Shigeyoshi Matsumura, Yoshiya Ikawa   +7 more
doaj   +1 more source

Exon skipping for DMD [PDF]

Orphanet Journal of Rare Diseases, 2012
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle-wasting disorder, while Becker muscular dystrophy (BMD) is milder muscle disease [1]. Both are caused by mutations in dystrophin, a protein, which stabilizes muscle fibers during contraction by linking muscle actin to the extracellular matrix.
Aartsma-Rus, Annemieke, Verschuuren, Jan JGM, Campion, Giles V, van Ommen, Gert-jan B, van Deutekom, Judith CT   +4 more
openaire   +1 more source

Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model

Biomedicines, 2023
Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene that disrupt the open reading frame and thus prevent production of functional dystrophin proteins. Recent advances in DMD treatment, notably exon skipping and AAV gene therapy, have
Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P. Kelly, Federica Montanaro, Jennifer E. Morgan, Maaike van Putten, Annemieke Aartsma-Rus, Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle   +15 more
doaj   +1 more source

Exon-Skipping in Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases, 2021
Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD.
Takeda, Shin’ichi, Clemens, Paula R., Hoffman, Eric P.   +2 more
openaire   +3 more sources

Advances in Dystrophinopathy Diagnosis and Therapy

Biomolecules, 2023
Dystrophinopathies are x-linked muscular disorders which emerge from mutations in the Dystrophin gene, including Duchenne and Becker muscular dystrophy, and dilated cardiomyopathy.
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini   +2 more
doaj   +1 more source