This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Comment

. 1997 Mar;60(3):729-30.

Nonsense mutations and altered splice-site selection

PMID: 9042933
PMCID: PMC1712508

Comment

Nonsense mutations and altered splice-site selection

H C Dietz. Am J Hum Genet. 1997 Mar.

. 1997 Mar;60(3):729-30.

Author

PMID: 9042933
PMCID: PMC1712508

No abstract available

PubMed Disclaimer

Comment on

Defects in RNA splicing and the consequence of shortened translational reading frames.
Maquat LE. Maquat LE. Am J Hum Genet. 1996 Aug;59(2):279-86. Am J Hum Genet. 1996. PMID: 8755945 Free PMC article. No abstract available.

Similar articles

Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
Tjeldhorn L, Amundsen SS, Barøy T, Rand-Hendriksen S, Geiran O, Frengen E, Paus B. Tjeldhorn L, et al. BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4. BMC Med Genet. 2015. PMID: 26684006 Free PMC article.
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.
Dietz HC, Kendzior RJ Jr. Dietz HC, et al. Nat Genet. 1994 Oct;8(2):183-8. doi: 10.1038/ng1094-183. Nat Genet. 1994. PMID: 7842017
The skipping of constitutive exons in vivo induced by nonsense mutations.
Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. Dietz HC, et al. Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317. Science. 1993. PMID: 8430317
NASty effects on fibrillin pre-mRNA splicing: another case of ESE does it, but proposals for translation-dependent splice site choice live on.
Maquat LE. Maquat LE. Genes Dev. 2002 Jul 15;16(14):1743-53. doi: 10.1101/gad.1014502. Genes Dev. 2002. PMID: 12130534 Review. No abstract available.
Aspects of splice site selection in constitutive and alternative pre-mRNA splicing.
Inoue K, Ohno M, Shimura Y. Inoue K, et al. Gene Expr. 1995;4(3):177-82. Gene Expr. 1995. PMID: 7734950 Free PMC article. Review.

See all similar articles

Cited by

Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.
Xiong F, Gao J, Li J, Liu Y, Feng G, Fang W, Chang H, Xie J, Zheng H, Li T, He L. Xiong F, et al. Eur J Hum Genet. 2009 Apr;17(4):510-6. doi: 10.1038/ejhg.2008.219. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002213 Free PMC article.
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH. Khan SG, et al. Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469. Nucleic Acids Res. 2002. PMID: 12177305 Free PMC article.
RNA-protein interactions that regulate pre-mRNA splicing.
Singh R. Singh R. Gene Expr. 2002;10(1-2):79-92. Gene Expr. 2002. PMID: 11868989 Free PMC article. Review.
CRISPR-induced exon skipping is dependent on premature termination codon mutations.
Sui T, Song Y, Liu Z, Chen M, Deng J, Xu Y, Lai L, Li Z. Sui T, et al. Genome Biol. 2018 Oct 17;19(1):164. doi: 10.1186/s13059-018-1532-z. Genome Biol. 2018. PMID: 30333044 Free PMC article.
Genetics of isolated growth hormone deficiency.
Mullis PE. Mullis PE. J Clin Res Pediatr Endocrinol. 2010;2(2):52-62. doi: 10.4274/jcrpe.v2i2.52. Epub 2010 May 1. J Clin Res Pediatr Endocrinol. 2010. PMID: 21274339 Free PMC article. Review.

See all "Cited by" articles

References

1. Nat Genet. 1994 Oct;8(2):183-8 - PubMed
1. Science. 1993 Jan 29;259(5095):680-3 - PubMed
1. EMBO J. 1994 Oct 3;13(19):4617-22 - PubMed
1. Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10928-32 - PubMed
1. Cell. 1996 May 3;85(3):415-22 - PubMed

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Europe PubMed Central
- PubMed Central