Results 231 to 240 of about 91,518 (258)

Use of an exon-trapping vector for the evaluation of splice-site mutations

Mammalian Genome, 2007
Prediction of the effects of splice-site variations by sequence analysis is difficult. In this study we provide the means for a rapid evaluation of the potential for splice-site mutations to interfere with RNA processing. The system may be useful in reverse genetics or mapping studies when isolation and characterization of mRNA is arduous or not ...
Boris, Schneider, Andrea, Koppius, Reinhard, Sedlmeier   +2 more
openaire   +2 more sources

Detection of somatic TP53 splice site mutations in diffuse astrocytomas

Cancer Letters, 2005
Alteration in TP53 is the most common genetic event reported for many tumors, including astrocytomas. The majority of studies, on analyzing TP53 mutations, have not included all splice junctions. Consequently, splice site mutations are thought to be relatively infrequent.
Miyuki, Uno, Sueli Mieko, Oba-Shinjo, Paulo Henrique, de Aguiar, Claudia C, Leite, Sérgio, Rosemberg, Flávio K, Miura, Raul Marino, Junior, Milberto, Scaff, Suely Kazue, Nagahashi Marie   +8 more
openaire   +2 more sources

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants

Molecular Genetics and Metabolism, 2011
Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-l-iduronidase, encoded by the IDUA gene. More than 100 disease causing mutations have been reported in the gene, resulting in a wide range of phenotypes. Here we describe a previously unreported IDUA splice site mutation (NG_008103.1:g.21632G>C; NM_000203.3:c.1727+
Sara, Bremer, Annika, Ohlsson, Else, Brodtkorb, Helge, Rootwelt, Terje, Rootwelt, Berit, Woldseth, Lars, Mørkrid   +6 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

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

Human Mutation, 2010
Molecular diagnosis in Usher syndrome type 1 and 2 patients led to the identification of 21 sequence variations located in noncanonical positions of splice sites in MYO7A, CDH23, USH1C, and USH2A genes. To establish experimentally the splicing pattern of these substitutions, whose impact on splicing is not always predictable by available softwares, ex ...
Le Guédard-Méreuze, Sandie, Vache, Christel, Baux, David, Faugère, Valérie, Larrieu, Lise, Abadie, Caroline, Janecke, Andreas, Claustres, Mireille, Roux, Anne-Françoise, Tuffery-Giraud, Sylvie   +9 more
openaire   +2 more sources

Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

Human Mutation, 1999
Small consensus sequences have been defined for RNA splicing, but questions about splicing in humans remain unanswered. Analysis of germline mutations in the factor IX gene offers a highly advantageous system for studying the mutational process in humans.
R P, Ketterling, J B, Drost, W A, Scaringe, D Z, Liao, J Z, Liu, C K, Kasper, S S, Sommer   +6 more
openaire   +2 more sources

Novel aberrant splicings caused by a splice site mutation (IVS1a+5g>a) in F7 gene

Thrombosis and Haemostasis, 2005
SummaryLow FVII coagulant activity (FVII:C 8.2%) and antigen level (FVII:Ag 34.1%) in a 46-year-old Chinese male led to a diagnosis of coagulation factor VII (FVII) deficiency. Compound heterozygous mutations were identified in his F7 gene:a G to A transition in the 5’ donor splice site of intron 1a (IVS1a+5g>a) and a T to G transition at the ...
Qiulan, Ding, Wenman, Wu, Qihua, Fu, Xuefeng, Wang, Yiqun, Hu, Hongli, Wang, Zhenyi, Wang   +6 more
openaire   +2 more sources

A novel splice site FUS mutation in a familial ALS case: effects on protein expression

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022
Antonio Canosa, Maurizio Grassano, Cristina Moglia   +2 more
exaly  

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7

Medicina (Lithuania), 2020
Anetta Undas, Ewa Wypasek, Daniel P Potaczek   +2 more
exaly  

A novel splice site mutation (156 + 1G→A) in the TSC2 gene

Human Mutation, 1997
A, Kumar, R S, Kandt, C, Wolpert, A D, Roses, M A, Pericak-Vance, J R, Gilbert   +5 more
openaire   +2 more sources