Results 161 to 170 of about 12,984 (193)

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicing

Quartesan I, Manini A, Schnekenberg RP, Facchini S, Curro R, Ghia A, Bertini A, Polke J, Bugiardini E, Munot P, O’Driscoll M, Laurá M, Sleigh JN, Reilly MM, Houlden H, Wood N, Cortese A.   +16 more
europepmc   +1 more source

Mechanism for cryptic splice site activation during pre-mRNA splicing. [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 1990
The 5' splice site of a pre-mRNA is recognized by U1 small nuclear ribonucleoprotein particles (snRNP) through base pairing with the 5' end of U1 small nuclear RNA (snRNA). Single-base substitutions within a 9-nucleotide 5'-splice-site sequence can abolish or attenuate use of that site and, in higher eukaryotes, can also activate nearby "cryptic" 5 ...
Michael R Green
exaly   +3 more sources

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Cryptic Splice Sites and Cryptic Splicing

2013
T Fukao
exaly   +2 more sources

Cryptic splicing sites are differentially utilized in vivo

The FEBS Journal, 2008
It has long been considered that cryptic splice sites are ignored by the splicing machinery in the context of intact genuine splice sites. In the present study, it is shown that cryptic splice sites are utilized in all circumstances, when the authentic site is intact, partially functional or completely abolished. Their use would therefore contribute to
Haj Khelil, Amel, Deguillien, Mireille, Morinière, Madeleine, Ben Chibani, Jemni, Baklouti, Faouzi   +4 more
openaire   +2 more sources

Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy

Neuromuscular Disorders, 2001
Golden retriever muscular dystrophy arises from a mutation in the acceptor splice site of intron 6 of the dystrophin gene. Skipping of exon 7 disrupts the mRNA reading frame and results in premature termination of translation. We are using this animal model to evaluate treatments for Duchenne muscular dystrophy, including gene repair induced by ...
Fletcher, S., Ly, T., Duff, R.M., Howell, J.Mc.C., Wilton, S.D.   +4 more
openaire   +2 more sources

Cryptic 5? splice site activation in SCN5A associated with Brugada syndrome

Journal of Molecular and Cellular Cardiology, 2005
The Brugada syndrome (BS) is characterized by ST segment elevation in the right precordial leads and sudden cardiac death. The disease is linked to mutations in SCN5A in approximately 20% of cases. We collected a large family with BS and have identified a novel intronic mutation.
Hong, K., Guerchicoff, A., Pollevick, G.d., Oliva, A., Dumaine, R., De Zutter, M., Burashnikov, E., Wu, Y.s., Brugada, J., Brugada, Pedro, Brugada, R.   +10 more
openaire   +3 more sources

Splicing and polyadenylylation at cryptic sites in RNA transcribed from pSV2-neo

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1986
Mapping the structures of RNAs transcribed from the chimeric plasmid pSV2-neo in transfected COS cells revealed discontinuities within the neo portion of the transcripts. Two cryptic 5' splice sites and three cryptic 3' splice sites were identified. The cryptic 5' splice sites matched 5 or 7 bases of the 5' consensus sequence.
J L, Nordstrom, M A, Westhafer
openaire   +2 more sources

Transcobalamin deficiency due to activation of an intra exonic cryptic splice site

British Journal of Haematology, 2003
Summary.  Transcobalamin (TC), a vitamin B12 (cobalamin, Cbl) binding protein in plasma, promotes the cellular uptake of the vitamin by receptor‐mediated endocytosis. Inherited TC deficiency is an autosomal recessive disorder characterized by megaloblastic anaemia caused by cellular vitamin B12 depletion.
Fares, Namour, Anne-Catherine, Helfer, Edward V, Quadros, Jean-Marc, Alberto, Ha M, Bibi, Lars, Orning, David S, Rosenblatt, Guéant, Jean-Louis   +7 more
openaire   +2 more sources