Results 221 to 230 of about 91,518 (258)

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

Sexual Development, 2015
<i>MAMLD1</i> is a causative gene for disorders of sex development. Several <i>MAMLD1</i> mutations have been shown to cause hypospadias by generating dysfunctional proteins and/or unstable mRNAs. Here, we identified an intronic mutation of <i>MAMLD1</i> (g.IVS4−2A>G) in 1 of 180 hypospadias patients.
Maki Igarashi, Yuka Wada, Yoshiyuki Kojima, Mami Miyado, Michiko Nakamura, Koji Muroya, Kentaro Mizuno, Yutaro Hayashi, Katsuya Nonomura, Kenjiro Kohri, Tsutomu Ogata, Maki Fukami   +11 more
openaire   +2 more sources

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 ...
N L, Sheremet, I G, Grushke, N V, Zhorzholadze, I A, Ronzina, A A, Mikaelyan, A S, Tanas, V V, Strelnikov   +6 more
openaire   +2 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.
O. El-Maarri, C. Klein, J. Junen, J. Schröder, C. R. Müller, J. Oldenburg   +5 more
openaire   +1 more source

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

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
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   +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

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
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
openaire   +2 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 ...
Dita, Obler, Bai-Lin, Wu, Va, Lip, Elicia, Estrella, Sally, Keck, Coral, Haggan, Marc, Semigran, Leslie B, Smoot   +7 more
openaire   +2 more sources