Results 181 to 190 of about 1,070 (210)

A splice-site mutation causing ovine McArdle's disease

Neuromuscular Disorders, 1997
McArdle's disease is an autosomal recessive myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme muscle glycogen phosphorylase which releases glucose for contraction during exercise. The human cDNA has been sequenced and disease-causing mutations identified.
Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R., Laing, N.G.   +5 more
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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
openaire   +4 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

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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Loss of daylength sensitivity by splice site mutation in Cannabis

2023
Abstract Adaptations to high latitude photoperiods have been under positive selection during the domestication of many short-day (SD) flowering crops. Photoperiod insensitivity (auto-flowering) in drug-type Cannabis sativa circumvents the need for SD flowering requirements making ...
Keegan M. Leckie, Jason Sawler, Paul Kapos, John O. Mackenzie, Ingrid Giles, Katherine Baynes, Jessica Lo, Jose M Celedon, Gregory J. Baute   +8 more
openaire   +1 more source

Phenotypic variability associated with 14 splice-site mutations in theNF2 Gene

American Journal of Medical Genetics, 1998
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder caused by mutations in the NF2 gene. Patients carrying NF2 mutations are predisposed to cerebral and spinal tumors with bilateral vestibular schwannomas as the hallmark. Using single strand conformation polymorphism and temperature gradient gel electrophoresis analysis, we have screened ...
L, Kluwe, M, MacCollin, M, Tatagiba, S, Thomas, W, Hazim, W, Haase, V F, Mautner   +6 more
openaire   +2 more sources

Analysis of F8 mRNA in haemophilia A patients with silent mutations or presumptive splice site mutations

Hämostaseologie, 2010
SummaryMutation screenings in haemophilia A (HA) patients identified a great variety of mutations in the factor VIII gene (F8): intron 22 or intron 1 inversions, missense mutations, nonsense mutations, small or large deletions, insertions, duplications and splice site mutations.
M A, Zimmermann, A, Gehrig, J, Oldenburg, C R, Müller, S, Rost   +4 more
openaire   +2 more sources