Results 301 to 310 of about 159,772 (339)

MSH2 splice site mutation and endometrial cancer

International Journal of Gynecological Cancer, 2006
Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs.
Bianchi, F., Rosati, S., Belvederesi, L., Loretelli, C., Catalani, R., Mandolesi, A., Bracci, R., Bearzi, I., Porfiri, E., Cellerino, R.   +9 more
openaire   +2 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

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

Identification of an ancient haemophilia A splice site mutation

Thrombosis Research, 2012
To date, numerous mutations resulting in haemophilia A are known and recorded at HAMSTeRS. We identified a new splice site mutation in intron 6 of the F8 gene (T to G transition at position -14; c.788-14T>G) in seven not knowingly related patients, who all suffer from mild haemophilia A. RNA analysis of blood cells indicated that this mutation leads to
Reitter-Pfoertner, Sylvia, von Haeseler, Arndt, Horvath, Birgit, Sunder-Plassmann, Raute, Tiedje, Vera, Pabinger, Ingrid, Mannhalter, Christine   +6 more
openaire   +3 more sources

Spliceosomal mutations decouple 3′ splice site fidelity from cellular fitness

2023
AbstractThe fidelity of splice site selection is thought to be critical for proper gene expression and cellular fitness. In particular, proper recognition of 3′-splice site (3′SS) sequences by the spliceosome is a daunting task considering the low complexity of the 3′SS consensus sequence YAG.
Kevin R. Roy, Jason Gabunilas, Dean Neutel, Michelle Ai, Joyce Samson, Guochang Lyu, Guillaume F. Chanfreau   +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

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

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

Novel splice site CACNA1A mutation causing episodic ataxia type 2

neurogenetics, 2004
Episodic ataxia type 2 (EA-2) is an autosomal dominant neurological disorder, characterized by episodes of ataxia, vertigo, nausea, nystagmus, and fatigue, associated with acetazolamide responsiveness. The disease is caused by mutations in the P/Q-type calcium channel Ca(v)2.1 subunit gene, CACNA1A, located on chromosome 19p13.2.
M A, Kaunisto, H, Harno, M, Kallela, H, Somer, R, Sallinen, E, Hämäläinen, P J, Miettinen, J, Vesa, A, Orpana, A, Palotie, M, Färkkilä, M, Wessman   +11 more
openaire   +2 more sources