Results 121 to 130 of about 51,494 (318)

Predicting the Impact of Alternative Splicing on Plant MADS Domain Protein Function [PDF]

Several genome-wide studies demonstrated that alternative splicing (AS) significantly increases the transcriptome complexity in plants. However, the impact of AS on the functional diversity of proteins is difficult to assess using genome-wide approaches.
Busscher-Lange, J., Dijk, A.D.J., van, Ham, R.C.H.J., van, Immink, G.H., Morabito, G., Severing, E.I.   +5 more
core   +2 more sources

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]

, 2018
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene.
Amoasii, L, Bassel-Duby, R, Caballero, D, Harron, R, Hildyard, J C W, Li, H, Massey, C A, Mireault, A, Olson, E N, Piercy, R J, Sanchez-Ortiz, E, Shelton, J M, Stathopoulou, T-R   +12 more
core   +2 more sources

The atomic structure of human dystrophin spectrin‐like repeat 24

Acta Crystallographica Section F, EarlyView.
The atomic structure of human dystrophin spectrin‐like repeat 24 was determined at 2.14 Å resolution.The structure of spectrin‐like repeat 24 of human dystrophin was determined at 2.5 Å effective resolution. The structure exhibits a three‐helix bundle fold, common to all spectrin‐repeat family members, and shares a high degree of homology with existing
Oakley Streeter, Ke Shi, Hannah Bui, Hideki Aihara, James M. Ervasti, Robert Evans III, Joseph M. Muretta   +6 more
wiley   +1 more source

Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse

Molecular Therapy: Nucleic Acids, 2018
Duchenne muscular dystrophy (DMD) is caused by mutations in DMD, resulting in loss of dystrophin, which is essential to muscle health. DMD “exon skipping” uses anti-sense oligo-nucleotides (AONs) to force specific exon exclusion during mRNA processing to
Derek W. Wang, Ekaterina I. Mokhonova, Genevieve C. Kendall, Diana Becerra, Yalda B. Naeini, Rita M. Cantor, Melissa J. Spencer, Stanley F. Nelson, M. Carrie Miceli   +8 more
doaj   +1 more source

Trans‐generational epigenetic regulation associated with the amelioration of Duchenne Muscular Dystrophy

EMBO Molecular Medicine, 2020
Exon skipping is an effective strategy for the treatment of many Duchenne Muscular Dystrophy (DMD) mutations. Natural exon skipping observed in several DMD cases can help in identifying novel therapeutic tools.
Julie Martone, Michela Lisi, Francesco Castagnetti, Alessandro Rosa, Valerio Di Carlo, Enrique Blanco, Adriano Setti, Davide Mariani, Alessio Colantoni, Tiziana Santini, Lucia Perone, Luciano Di Croce, Irene Bozzoni   +12 more
doaj   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

In vivo effects on intron retention and exon skipping by the U2AF large subunit and SF1/BBP in the nematode Caenorhabditis elegans [PDF]

, 2011
Long Ma, Zhiping Tan, Yanling Teng, Sebastian Hoersch, H. Robert Horvitz   +4 more
openalex   +1 more source

Methods to study splicing from high-throughput RNA Sequencing data

, 2015
The development of novel high-throughput sequencing (HTS) methods for RNA (RNA-Seq) has provided a very powerful mean to study splicing under multiple conditions at unprecedented depth. However, the complexity of the information to be analyzed has turned
A Ameur, A Bhasi, A Dobin, A Mortazavi, A Oshlack, A Roberts, A Roberts, AM Mezlini, AN Brooks, B Jackson, B Kakaradov, B Langmead, B Li, B Li, BJ Haas, BJ Haas, C Trapnell, C Trapnell, C Trapnell, D Hiller, D Singh, DL Wood, DW Bryant, E Eyras, E Lee, E Turro, ET Wang, F Birzele, F Bona De, F Denoeud, F Tang, G Robertson, G Xu, GA Sacomoto, GR Grant, GS Slater, H Bao, H Jiang, H Jiang, H Kim, H Richard, J Behr, J Du, J Feng, J Hu, J Lovén, J Martin, J Salzman, J Seok, J Seok, J Wu, J Wu, JE Allen, JJ Li, JP Venables, K Schneeberger, K Wang, KD Hansen, KF Au, KL Howe, KM Borgwardt, L Chen, L Chen, L Wang, L Wang, LY Chen, M Aschoff, M Fiume, M Garber, M Griffith, M Guttman, M Stanke, M Stanke, M Sultan, MC Ryan, MF Rogers, MG Grabherr, MH Schulz, MT Dimon, N Cloonan, N Cloonan, N Deng, N Leng, N Nicolae, N Philippe, N Vijay, NA Fonseca, O Stegle, P Drewe, P Glaus, PL Martelli, PP Labaj, Q Liu, Q Liu, Q Pan, QY Zhao, R Bohnert, R Guigó, R Li, S Anders, S Djebali, S Filichkin, S Heber, S Huang, S Lee, S Mangul, S Marco-Sola, S Shen, S Sonnenburg, S Srivastava, S Tang, S Zheng, SB Montgomery, SH Nagaraj, SK Lou, T Bonfert, TA Clark, TD Wu, TD Wu, W Li, W Li, W Wang, WJ Kent, Y Hu, Y Katz, Y Li, Y Liao, Y Surget-Groba, Y Xing, Y Xing, Y Zhang, Z Xia   +131 more
core   +1 more source

TNMplot: An enhanced platform for pharmacological target identification through cross‐stage and pan‐cancer gene expression analysis

British Journal of Pharmacology, EarlyView.
TNMplot.com, a web‐based platform integrating RNA‐Seq and gene‐chip data from 56,938 samples, enables differential gene expression analysis across normal, primary tumour and metastatic tissues, facilitating large‐scale transcriptomic profiling across 22 tumour types.
Áron Bartha, Balázs Győrffy
wiley   +1 more source

Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase [PDF]

, 2003
Karin Leitner, Martina Meyer, W. Leimbacher, Anja Peterbauer, Susanne Hofer, Christine Heufler, Angelika Müller, Regine Heller, Ernst R. Werner, Beat Thöny, Gabriele Werner‐Felmayer   +10 more
openalex   +1 more source