Lopez AJ: Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation. Annu Rev Genet. 1998, 32: 279-305. 10.1146/annurev.genet.32.1.279.
Article
CAS
PubMed
Google Scholar
Smith CW, Valcarcel J: Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci. 2000, 25: 381-388. 10.1016/S0968-0004(00)01604-2.
Article
CAS
PubMed
Google Scholar
Staley JP, Guthrie C: Mechanical devices of the spliceosome: motors, clocks, springs, and things. Cell. 1998, 92: 315-326.
Article
CAS
PubMed
Google Scholar
Harris NL, Senapathy P: Distribution and consensus of branch point signals in eukaryotic genes: a computerized statistical analysis. Nucleic Acids Res. 1990, 18: 3015-3019.
Article
PubMed Central
CAS
PubMed
Google Scholar
Shapiro MB, Senapathy P: RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res. 1987, 15: 7155-7174.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dominski Z, Kole R: Selection of splice sites in pre-mRNAs with short internal exons. Mol Cell Biol. 1991, 11: 6075-6083.
Article
PubMed Central
CAS
PubMed
Google Scholar
Balvay L, Libri D, Fiszman MY: Pre-mRNA secondary structure and the regulation of splicing. Bioessays. 1993, 15: 165-169.
Article
CAS
PubMed
Google Scholar
Riccardi VM: Von Recklinghausen neurofibromatosis. N Engl J Med. 1981, 305: 1617-1627.
Article
CAS
PubMed
Google Scholar
Gutmann DH, Geist RT, Rose K, Wright DE: Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. Dev Dyn. 1995, 202: 302-311.
Article
CAS
PubMed
Google Scholar
Gutmann DH, Zhang Y, Hirbe A: Developmental regulation of a neuron-specific neurofibromatosis 1 isoform. Ann Neurol. 1999, 46: 777-782. 10.1002/1531-8249(199911)46:5<777::AID-ANA15>3.0.CO;2-H.
Article
CAS
PubMed
Google Scholar
Park VM, Kenwright KA, Sturtevant DB, Pivnick EK: Alternative splicing of exons 29 and 30 in the neurofibromatosis type 1 gene. Hum Genet. 1998, 103: 382-385. 10.1007/s004390050837.
Article
CAS
PubMed
Google Scholar
Suzuki H, Takahashi K, Kubota Y, Shibahara S: Molecular cloning of a cDNA coding for neurofibromatosis type 1 protein isoform lacking the domain related to ras GTPase-activating protein. Biochem Biophys Res Commun. 1992, 187: 984-990.
Article
CAS
PubMed
Google Scholar
Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A: Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000, 15: 541-555. 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.3.CO;2-E.
Article
CAS
PubMed
Google Scholar
Ars E, Serra E, de la Luna S, Estivill X, Lazaro C: Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA. Nucleic Acids Res. 2000, 28: 1307-1312. 10.1093/nar/28.6.1307.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wimmer K, Eckart M, Rehder H, Fonatsch C: Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients. Hum Genet. 2000, 106: 311-313. 10.1007/s004390051043.
Article
CAS
PubMed
Google Scholar
Thomson SAM, Wallace MR: RT-PCR splicing analysis of the NF1 open reading frame. Hum Genet. 2002, 110: 495-502. 10.1007/s00439-002-0714-6.
Article
CAS
PubMed
Google Scholar
Heim RA, Kam-Morgan LN, Binnie CG, Corns DD, Cayouette MC, Farber RA, Aylsworth AS, Silverman LM, Luce MC: Distribution of 13 truncating mutations in the neurofibromatosis 1 gene. Hum Mol Genet. 1995, 4: 975-981.
Article
CAS
PubMed
Google Scholar
Messiaen LM, Callens T, Roux KJ, Mortier GR, De Paepe A, Abramowicz M, Pericak-Vance MA, Vance JM, Wallace MR: Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genet Med. 1999, 1: 248-253.
Article
CAS
PubMed
Google Scholar
Kaufmann D, Leistner W, Kruse P, Kenner O, Hoffmeyer S, Hein C, Vogel W, Messiaen L, Bartelt B: Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2. Cancer Res. 2002, 62: 1503-1509.
CAS
PubMed
Google Scholar
Ars E, Serra E, Garcia J, Kruyer H, Gaona A, Lazaro C, Estivill X: Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet. 2000, 9: 237-247. 10.1093/hmg/9.2.237.
Article
CAS
PubMed
Google Scholar
Berget SM: Exon recognition in vertebrate splicing. J Biol Chem. 1995, 270: 2411-2414.
Article
CAS
PubMed
Google Scholar
Romano M, Marcucci R, Baralle FE: Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin gene. Nucleic Acids Res. 2001, 29: 886-894. 10.1093/nar/29.4.886.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chu CS, Trapnell BC, Curristin S, Cutting GR, Crystal RG: Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet. 1993, 3: 151-156.
Article
CAS
PubMed
Google Scholar
Libri D, Balvay L, Fiszman MY: In vivo splicing of the beta tropomyosin pre-mRNA: a role for branch point and donor site competition. Mol Cell Biol. 1992, 12: 3204-3215.
Article
PubMed Central
CAS
PubMed
Google Scholar
Goux-Pelletan M, Libri D, d'Aubenton-Carafa Y, Fiszman M, Brody E, Marie J: In vitro splicing of mutually exclusive exons from the chicken beta-tropomyosin gene: role of the branch point location and very long pyrimidine stretch. Embo J. 1990, 9: 241-249.
PubMed Central
CAS
PubMed
Google Scholar
Zuker M, Mathews DH, Turner DH: Algorithms and Thermodynamics for RNA Secondary Structure Prediction: A Practical Guide in RNA Biochemistry and Biotechnology. Dordrecht, Kluwer Academic Publishers. 1999
Google Scholar
Mathews DH, Sabina J, Zuker M, Turner DH: Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure. J Mol Biol. 1999, 288: 911-940. 10.1006/jmbi.1999.2700.
Article
CAS
PubMed
Google Scholar
Vandenbroucke II, Vandesompele J, De Paepe A, Messiaen L: Quantification of splice variants using real-time PCR. Nucleic Acids Res. 2001, 29: E68-68. 10.1093/nar/29.13.e68.
Article
PubMed Central
CAS
PubMed
Google Scholar
Mount SM, Pettersson I, Hinterberger M, Karmas A, Steitz JA: The U1 small nuclear RNA-protein complex selectively binds a 5' splice site in vitro. Cell. 1983, 33: 509-518.
Article
CAS
PubMed
Google Scholar
Zhuang Y, Weiner AM: A compensatory base change in U1 snRNA suppresses a 5' splice site mutation. Cell. 1986, 46: 827-835.
Article
CAS
PubMed
Google Scholar
Eperon LP, Graham IR, Griffiths AD, Eperon IC: Effects of RNA secondary structure on alternative splicing of pre-mRNA: is folding limited to a region behind the transcribing RNA polymerase?. Cell. 1988, 54: 393-401.
Article
CAS
PubMed
Google Scholar