Results 271 to 280 of about 83,578 (286)

Clinical polymorphism of splice site mutations in the ABCA4 gene

Vestnik oftal'mologii, 2018
ABCA4 is one of the main genes whose mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. The severity of retinal dystrophy phenotype may be related to the degree of mutation pathogenicity, which depends on the localization in various regulatory ...
I.A. Ronzina, N V Zhorzholadze, A.A. Mikaelyan, Sheremet Nl, I.G. Grushke, Alexander S Tanas, Vladimir V Strelnikov   +6 more
openaire   +3 more sources

Sarcoidosis is associated with a truncating splice site mutation in BTNL2

Nature Genetics, 2005
Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 ...
Valentonyte, Ruta, Hampe, Jochen, Huse, Klaus, Rosenstiel, Philip, Albrecht, Melanie, Stenzel, A., Nagy, Marion, Gaede, Karoline I., Franke, Andre, Haesler, R., Koch, Andreas, Lengauer, Thomas, Seegert, Dirk, Reiling, N., Ehlers, Stefan, Schwinger, Eberhard, Platzer, M., Krawczak, Michael, Müller-Quernheim, Joachim, Schürmann, Melanie, Schreiber, Stefan   +20 more
openaire   +3 more sources

Splice Site Mutations Effect on the F8 mRNA Splicing

2007
This highlights the usefulness of the mRNA analysis for routine diagnosis of such ambiguous cases including the presence of potential cryptic splice sites and clearly demonstrates the causality of the mutations which is also important for the genetic counseling of those families.
J. Schröder, C. Klein, C. R. Müller, J. Junen, J. Oldenburg, O. El-Maarri   +5 more
openaire   +2 more sources

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   +5 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 ...
Anne-Françoise Roux, David Baux, Sandie Le Guédard-Méreuze, Caroline Abadie, Lise Larrieu, Mireille Claustres, Mireille Claustres, Christel Vaché, Sylvie Tuffery-Giraud, Sylvie Tuffery-Giraud, Valérie Faugère, Andreas R. Janecke   +11 more
openaire   +3 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 ...
Kenji Sugiyama, Yoshiaki Hitomi, Hiroyasu Esumi   +2 more
openaire   +3 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.
Jing Zhong Liu, Carol K. Kasper, Dong Zhou Liao, Rhett P. Ketterling, William A. Scaringe, Joni B. Drost, Steve S. Sommer   +6 more
openaire   +3 more sources

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 ...
Coral Haggan, Sally Keck, Va Lip, Leslie B. Smoot, Dita Obler, Elicia Estrella, Bai-Lin Wu, Marc J. Semigran   +7 more
openaire   +3 more sources

The splice is not right: splice-site-creating mutations in cancer genomes

2018
Accurate interpretation of cancer mutations in individual tumors is a prerequisite for precision medicine. Large-scale sequencing studies, such as The Cancer Genome Atlas (TCGA) project, have worked to address the functional consequences of genomic mutations, with the larger goal of determining the underlying mechanisms of cancer initiation and ...
openaire   +3 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 ...
Marc Fellous, Patrick Niaudet, C Fekete, Sandrine Barbaux, Francis Jaubert, N. Souleyreau-Therville, Frédérique Kuttenn, Elisabeth Thibaud, Marie-Claire Gubler, Ken McElreavey, Jean-Pierre Grünfeld   +10 more
openaire   +3 more sources