Zobrazeno 1 - 10
of 4 868
pro vyhledávání: '"Exon-skipping"'
Autor:
Cătălin Vasile Munteanu, Cătălin Marian, Adela Chiriță-Emandi, Maria Puiu, Adrian Pavel Trifa
Publikováno v:
BMC Genomic Data, Vol 25, Iss 1, Pp 1-14 (2024)
Abstract Lynch syndrome (LS) is one of the most common hereditary cancer syndrome in human populations, associated with germline variants in MLH1, MSH2/EPCAM, MSH6 and PMS2 genes. The advent of next generation sequencing has proven a significant impa
Externí odkaz:
https://doaj.org/article/a6119d78d567491e88e8c7def5420876
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 3, Pp 12-23 (2024)
Background. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, that occurs between one and three years of age. DMD is caused by pathogenic and likely pathogenic variants in the DMD gene, which lead to a defic
Externí odkaz:
https://doaj.org/article/2ae0308147c14e91b799735f4891b7f3
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Ethanol’s anxiolytic actions contribute to increased consumption and the development of Alcohol Use Disorder (AUD). Our laboratory previously identified genetic loci contributing to the anxiolytic-like properties of ethanol in BXD recombinant inbre
Externí odkaz:
https://doaj.org/article/eceff5a414db4ab5a69c1f3baa44d923
Autor:
Miriam Bertazzon, Almudena Hurtado-Pico, Carlos Plaza-Sirvent, Marc Schuster, Marco Preußner, Benno Kuropka, Fan Liu, Andor Zenon Amandus Kirsten, Xiao Jakob Schmitt, Benjamin König, Miguel Álvaro-Benito, Esam T. Abualrous, Gesa I. Albert, Stefanie Kliche, Florian Heyd, Ingo Schmitz, Christian Freund
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
The question whether interference with the ubiquitous splicing machinery can lead to cell-type specific perturbation of cellular function is addressed here by T cell specific ablation of the general U5 snRNP assembly factor CD2BP2/U5–52K. This prot
Externí odkaz:
https://doaj.org/article/5bb2494462e24f849a03eadf17761b60
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Down syndrome is a genetic-based disorder that results from the triplication of chromosome 21, leading to an overexpression of many triplicated genes, including the gene encoding Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A).
Externí odkaz:
https://doaj.org/article/7bd9e0f2f9304a299516f800d438406f
Autor:
Alex du Rand, John Hunt, Christopher Samson, Evert Loef, Chloe Malhi, Sarah Meidinger, Chun‐Jen Jennifer Chen, Ashley Nutsford, John Taylor, Rod Dunbar, Diana Purvis, Vaughan Feisst, Hilary Sheppard
Publikováno v:
Bioengineering & Translational Medicine, Vol 9, Iss 4, Pp n/a-n/a (2024)
Abstract Gene therapy based on the CRISPR/Cas9 system has emerged as a promising strategy for treating the monogenic fragile skin disorder recessive dystrophic epidermolysis bullosa (RDEB). With this approach problematic wounds could be grafted with
Externí odkaz:
https://doaj.org/article/9308479efb334e27a2c50270e92fd7fe
Autor:
Francesco Galli, Laricia Bragg, Maira Rossi, Daisy Proietti, Laura Perani, Marco Bacigaluppi, Rossana Tonlorenzi, Tendai Sibanda, Miriam Caffarini, Avraneel Talapatra, Sabrina Santoleri, Mirella Meregalli, Beatriz Bano-Otalora, Anne Bigot, Irene Bozzoni, Chiara Bonini, Vincent Mouly, Yvan Torrente, Giulio Cossu
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 4, Pp 927-944 (2024)
Abstract Cell therapy for muscular dystrophy has met with limited success, mainly due to the poor engraftment of donor cells, especially in fibrotic muscle at an advanced stage of the disease. We developed a cell-mediated exon skipping that exploits
Externí odkaz:
https://doaj.org/article/2901b421c44741348f703c80bba345e6
Publikováno v:
Русский журнал детской неврологии, Vol 18, Iss 2-3, Pp 31-37 (2023)
Duchenne muscular dystrophy is a genetically determined fatal disease with a steadily progressive course. It is characterized by the absence or sharp decrease (less than 3 % of the norm) of the dystrophin protein. In recent years, several drugs for p
Externí odkaz:
https://doaj.org/article/5ceaa0ba431e4a7f83d400cd123f7a8d
Publikováno v:
RNA Biology, Vol 20, Iss 1, Pp 693-702 (2023)
Mutations in the DMD gene are causative for Duchenne muscular dystrophy (DMD). Antisense oligonucleotide (AON) mediated exon skipping to restore disrupted dystrophin reading frame is a therapeutic approach that allows production of a shorter but func
Externí odkaz:
https://doaj.org/article/24bc75579f454439b33a70bce5092238
Autor:
Zhenwei Zhang, Xiaoying Zou, Lin Feng, Yu Huang, Feng Chen, Kai Sun, Yilin Song, Ping Lv, Xuejun Gao, Yanmei Dong, Hua Tian
Publikováno v:
BMC Oral Health, Vol 23, Iss 1, Pp 1-10 (2023)
Abstract Background Amelogenesis imperfecta (AI) is a developmental enamel defect affecting the structure of enamel, esthetic appearance, and the tooth masticatory function. Gene mutations are reported to be relevant to AI. However, the mechanism und
Externí odkaz:
https://doaj.org/article/071d1da0494b4b1dbfc2c171563362f2