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Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1
Title Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 Author Zaťková Andrea 1971- SAVMOFYZ - Ústav molekulárnej fyziológie a genetiky SAV SCOPUS RID ORCID Co-authors Messiaen L. Vandenbroucke I Wieser R. Fonatsch C. Krainer A.R. Wimmer Katherine Source document Human Mutation. Vol. 24, iss. 6 (2004), p.491-501 Language eng - English Country US - United States of America Document kind rozpis článkov z periodík (rbx) Citations AUCLAIR, J. - BUISINE, M.P. - NAVARRO, C. - RUANO, E. - MONTMAIN, G. - DESSEIGNE, F. - SAURIN, J.C. - LASSET, C. - BONADONA, V. - GIRAUD, S. - PUISIEUX, A. - WANG, Q. Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. In HUMAN MUTATION. ISSN 1059-7794, FEB 2006, vol. 27, no. 2, p. 145-154. TALKOWSKI, Michael E. - MCCANN, Kathleen L. - CHEN, Michael - MCCLAIN, Lora - BAMNE, Mikhil - WOOD, Joel - CHOWDARI, Kodavali V. - WATSON, Annie - PRASAD, Konasale M. - KIROV, George - GEORGIEVA, Lyudmilla - TONCHEVA, Draga - MANSOUR, Hader - LEWIS, David A. - OWEN, Michael - O'DONOVAN, Michael - PAPASAIKAS, Panagiotis - SULLIVAN, Patrick - RUDERFER, Douglas - YAO, Jeffrey K. - LEONARD, Sherry - THOMAS, Pramod - MIYAJIMA, Fabio - QUINN, John - LOPEZ, A. Javier - NIMGAONKAR, Vishwajit L. Fine-Mapping Reveals Novel Alternative Splicing of the Dopamine Transporter. In AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2010, vol.158B, no.8, 1434-1447. DOBROWOLSKI, Steven F. - ANDERSEN, Henriette S. - DOKTOR, Thomas K. - ANDRESEN, Brage S. The phenylalanine hydroxylase c.30C > G synonymous variation (p.G10G) creates a common exonic splicing silencer. In MOLECULAR GENETICS AND METABOLISM, 2010, vol.100, no.4, 316-323. WHILEY, Phillip J. - PETTIGREW, Christopher A. - BREWSTER, Brooke L. - WALKER, Logan C. - SPURDLE, Amanda B. - BROWN, Melissa A. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts. In BMC MEDICAL GENETICS, 2010, vol.11, no.. LEVIT, A. - NUTMAN, D. - OSHER, E. - KAMHI, E. - NAVON, R. Two novel exonic point mutations in HEXA identified in a juvenile Tay-Sachs patient: Role of alternative splicing and nonsense-mediated mRNA decay. In MOLECULAR GENETICS AND METABOLISM, 2010, vol.100, no.2, 176-183. WOOLFE, Adam - MULLIKIN, James C. - ELNITSKI, Laura. Genomic features defining exonic variants that modulate splicing. In GENOME BIOLOGY, 2010, vol.11, no.2. VORECHOVSKY, Igor. Transposable elements in disease-associated cryptic exons. In HUMAN GENETICS, 2010, vol.127, no.2, 135-154. MUSANTE, Luciana - KUNDE, Stella-Amrei - SULISTIO, Tina O. - FISCHER, Ute - GRIMME, Astrid - FRINTS, Suzanna G. M. - SCHWARTZ, Charles E. - MARTINEZ, Francisco - ROMANO, Carrado - ROPERS, Hans-Hilger - KALSCHEUER, Vera M. Common Pathological Mutations in PQBP1 Induce Nonsense-Mediated mRNA Decay and Enhance Exclusion of the Mutant Exon. In HUMAN MUTATION, 2010, vol.31, no.1, 90-98. XU, D.Q. - MATTOX, W. Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies. In HUMAN MOLECULAR GENETICS. ISSN 0964-6906, JAN 15 2006, vol. 15, no. 2, p. 329-336. WANG, J.H. - SMITH, P.J. - KRAINER, A.R. - ZHANG, M.Q. Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes. In NUCLEIC ACIDS RESEARCH. ISSN 0305-1048, 2005, vol. 33, no. 16, p. 5053-5062. DENSON, J. - WU, Y.C. - YANG, W.J. - ZHANG, J. Inter-individual variation of several cytochrome P450 2D6 splice variants in human liver. In BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. ISSN 0006-291X, MAY 6 2005, vol. 330, no. 2, p. 498-504. 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Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene. In JOURNAL OF MEDICAL GENETICS. ISSN 0022-2593, DEC 2006, vol. 43, no. 12, p. 924-930. PROS, E. - LARRIBA, S. - LOPEZ, E. - RAVELLA, A. - GILI, M.L. - KRUYER, H. - VALLS, J. - SERRA, E. - LAZARO, C. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing. In HUMAN MUTATION. ISSN 1059-7794, NOV 2006, vol. 27, no. 11, p. 1104-1114. BARALLE, M. - SKOKO, N. - KNEZEVICH, A. - DE CONTI, L. - MOTTI, D. - BHUVANAGIRI, M. - BARALLE, D. - BURATTI, E. - BARALLE, F.E. NF1 mRNA biogenesis: Effect of the genomic milieu in splicing regulation of the NF1 exon 37 region. In FEBS LETTERS. ISSN 0014-5793, AUG 7 2006, vol. 580, no. 18, p. 4449-4456. GORLOV, I.P. - KIMMEL, M. - AMOS, C.I. 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Category ADMB - Scientific papers in foreign non-impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2004 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1002/humu.20103 
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