Results 181 to 190 of about 1,070 (211)

Novel Donor Splice Site Mutation of ABCG5 Gene in Sitosterolemia

Molecular Genetics and Metabolism, 2002
In a patient with sitosterolemia, we found two different mutations of the ATP-binding cassette, subfamily G, member 5 (ABCG5) gene. The first is a missense mutation that changes the amino acid residue at position 419 from arginine to histidine, i.e., R419H. The second is a novel splicing mutation affecting the invariant guanine at the first base of the
Lam, CW, Cheng, AWF, Chan, YW, Tong, SF
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Suppression of the 5′ Splice Site Mutation in the Nagase Analbuminemic Rat with Mutated U1snRNA

Biochemical and Biophysical Research Communications, 1998
Nagase analbuminemic rats (NAR) are deficient in serum albumin due to skipping of the albumin exon H caused by a mutation in the intron HI. This mutation deletes nucleotides from +5 to +11 in the 5' splice site region, where it interacts with U1snRNA. To determine whether the mutation can be suppressed by the compensatory base substitution in U1snRNA ...
Y, Hitomi, K, Sugiyama, H, Esumi
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Mutations in U6 snRNA that Alter Splice Site Specificity: Implications for the Active Site

Science, 1993
What determines the precise sites of cleavage in the two transesterification reactions of messenger RNA (mRNA) splicing is a major unsolved question. Mutation of the invariant G (guanosine) at position 5 of 5′ splice sites in Saccharomyces cerevisiae introns activates cleavage at nearby aberrant sites.
C F, Lesser, C, Guthrie
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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

Nature Genetics, 1997
Frasier syndrome (FS) is a rare disease defined by male pseudo-hermaphroditism and progressive glomerulopathy. Patients present with normal female external genitalia, streak gonads and XY karyotype and frequently develop gonadoblastoma. Glomerular symptoms consist of childhood proteinuria and nephrotic syndrome, characterized by unspecific focal and ...
S, Barbaux, P, Niaudet, M C, Gubler, J P, Grünfeld, F, Jaubert, F, Kuttenn, C N, Fékété, N, Souleyreau-Therville, E, Thibaud, M, Fellous, K, McElreavey   +10 more
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Familial Dilated Cardiomyopathy Secondary to Dystrophin Splice Site Mutation

Journal of Cardiac Failure, 2010
Idiopathic dilated cardiomyopathy (DCM) encompasses a heterogeneous group of disorders, posing significant diagnostic challenges. Genetic etiologies underlie an important subset of DCM, including 20 genes and 5 X-linked disorders to date. We report a family with a rare dystrophin gene alteration, identified after evaluation of asymptomatic children ...
Dita, Obler, Bai-Lin, Wu, Va, Lip, Elicia, Estrella, Sally, Keck, Coral, Haggan, Marc, Semigran, Leslie B, Smoot   +7 more
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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
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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
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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
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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
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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
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