Results 181 to 190 of about 240,839 (324)

Prime editing strategies to mediate exon skipping in DMD gene. [PDF]

Front Med (Lausanne), 2023
Happi Mbakam C, Roustant J, Rousseau J, Yameogo P, Lu Y, Bigot A, Mamchaoui K, Mouly V, Lamothe G, Tremblay JP.   +9 more
europepmc   +1 more source

Massive Idiosyncratic Exon Skipping Corrects the Nonsense Mutation in Dystrophic Mouse Muscle and Produces Functional Revertant Fibers by Clonal Expansion [PDF]

, 2000
Qi Long Lu, Glenn E. Morris, Steve D. Wilton, T. Ly, Olga V. Artemyeva, Peter Strong, Terence A. Partridge   +6 more
openalex   +1 more source

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element [PDF]

, 2000
Franco Pagani, Emanuele Buratti, Cristiana Stuani, Maurizio Romano, Elisabetta Zuccato, Martina Niksic, L. Giglio, D. Faraguna, Francisco E. Baralle   +8 more
openalex   +1 more source

An intronic SNP in the Carotenoid Cleavage Dioxygenase 1 (CsCCD1) controls yellow flesh formation in cucumber fruit (Cucumis sativus L.)

Plant Biotechnology Journal, EarlyView.
Summary Vitamin A is a crucial yet scarce vitamin essential for maintaining normal metabolism and bodily functions in humans and can only be obtained from food. Carotenoids represent a diverse group of functional pigments that act as precursors for vitamins, hormones, aroma volatiles and antioxidants.
Zhuonan Dai, Jiantao Guan, Han Miao, Diane M. Beckles, Xiaoping Liu, Xingfang Gu, Shaoyun Dong, Shengping Zhang   +7 more
wiley   +1 more source

Japanese-type adult galactosialidosis. A unique and common splice junction mutation causing exon skipping in the protective protein/carboxypeptidase gene.

, 1990
Michie Shimmoto, Takako Takano, Yukiko Fukuhara, Akihiro Oshima, Hitoshi Sakuraba, Yoshiyuki Suzuki   +5 more
openalex   +2 more sources

Salt Stress Adaptations in Soybean Involve Alterations in Pre‐mRNA Processing

Plant, Cell &Environment, EarlyView.
ABSTRACT Salt stress can seriously affect plant survival. To adapt to salt stress, plants can alter gene expressions and/or pre‐mRNA processing patterns, or both. Previous studies could not comprehensively profile stress‐responsive pre‐mRNA processing patterns due to limitations in traditional sequencing technologies.
Shoudong Zhang, Zhixia Xiao, Ailin Liu, Dongpeng Ren, Shengjie Chen, Hanxue Zhang, Li Zhang, Zhili Wang, Jun Yang, Hon‐Ming Lam   +9 more
wiley   +1 more source

mCherry on Top: A Positive Read-Out Cellular Platform for Screening DMD Exon Skipping Xenopeptide-PMO Conjugates. [PDF]

Bioconjug Chem, 2023
Lessl AL, Pöhmerer J, Lin Y, Wilk U, Höhn M, Hörterer E, Wagner E, Lächelt U.   +7 more
europepmc   +1 more source

Unexpected abundance of self-splicing introns in the genome of bacteriophage Twort: Introns in multiple genes, a single gene with three introns, and exon skipping by group I ribozymes

, 1999
Markus Landthaler, David A. Shub
openalex   +1 more source

Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome [PDF]

, 2000
Jeanette Hamlington, Mark V. Clough, Jennifer A. Dunston, Iain McIntosh   +3 more
openalex   +1 more source

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, EarlyView.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 more
wiley   +1 more source