Items where Subject is "exon skipping"

A

Andresen, B. S., Nielsen, K. B., Madsen, P. P., Corydon, T. J., Kjems, J., Krainer, A. R., Elpeleg, O. N., Schroeder, L. D., Gregersen, N. (October 2002) Simple mutations in the coding region of three acyl-CoA dehydrogenase genes may lead to skipping of the constitutive exon due to disruption of potential splice enhancer sequences or mRNA secondary structures. American Journal of Human Genetics, 71 (4). p. 196. ISSN 0002-9297

C

Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., Krainer, A. R. (January 2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet, 78 (1). pp. 63-77. ISSN 0002-9297 (Print)

Cartegni, L., Krainer, A. R. (February 2003) Correction of disease-associated exon skipping by synthetic exon-specific activators. Nature Structural Biology, 10 (2). pp. 120-125. ISSN 1072-8368

F

Fackenthal, J. D., Cartegni, L., Krainer, A. R., Olopade, O. I. (September 2002) BRCA2 T2722R is a deleterious allele that causes exon skipping. American Journal of Human Genetics, 71 (3). pp. 625-631. ISSN 0002-9297

K

Kim, Young Jin, Sivetz, Nicole, Layne, Jessica, Voss, Dillon, Yang, Lucia, Zhang, Qian, Krainer, Adrian (August 2021) Exon-Skipping Antisense Oligonucleotides for Cystic Fibrosis Therapy. BioRxiv. (Unpublished)

Kim, Young Jin, Sivetz, Nicole, Layne, Jessica, Voss, Dillon M, Yang, Lucia, Zhang, Qian, Krainer, Adrian R (January 2022) Exon-skipping antisense oligonucleotides for cystic fibrosis therapy. Proceedings of the National Academy of Sciences of USA, 119 (3). e2114858118-e2114858118. ISSN 0027-8424

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Liu, H. X., Cartegni, L., Zhang, M. Q., Krainer, A. R. (January 2001) A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes. Nature Genetics, 27 (1). pp. 55-58. ISSN 1061-4036

M

Mayeda, A., Helfman, D. M., Krainer, A. R. (May 1993) Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF. Molecular and Cellular Biology, 13 (5). pp. 2993-3001. ISSN 0270-7306 (Print)0270-7306

Mou, Haiwei, Eskiocak, Onur, Özler, Kadir A, Gorman, Megan, Yue, Junjiayu, Jin, Ying, Wang, Zhikai, Gao, Ya, Janowitz, Tobias, Meyer, Hannah V, Yu, Tianxiong, Wilkinson, John E, Kucukural, Alper, Ozata, Deniz M, Beyaz, Semir (January 2023) CRISPR-induced exon skipping of β-catenin reveals tumorigenic mutants driving distinct subtypes of liver cancer. Journal of Pathology. ISSN 0022-3417

Z

Zatkova, A., Messiaen, L., Vandenbroucke, I., Wieser, R., Fonatsch, C., Krainer, A. R., Wimmer, K. (2004) Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Human Mutation, 24 (6). pp. 491-501. ISSN 1059-7794