Results 261 to 270 of about 142,271 (283)

Six additional mutations in fucosidosis: three nonsense mutations and three frameshift mutations

Human Molecular Genetics, 1993
The rare lysosomal storage disease, fucosidosis results from an almost complete deficiency of alpha-L-fucosidase (EC 3.2.1.51). We have identified six new potential disease causing mutations detected by PCR amplification and sequencing of all 8 exons of the alpha-L-fucosidase gene FUCA1.
Seo, Hee-Chan, Willems, Patrick J., O'Brien, John S.   +2 more
openaire   +3 more sources

Nonsense Mutations in Human Transcobalamin II Deficiency

Biochemical and Biophysical Research Communications, 1994
Reverse transcription-polymerase chain reaction has been used to amplify, clone and sequence transcobalamin II (TC II) cDNA from fibroblasts of three unrelated TC II deficient patients who had undetectable TC II protein and mRNA in their fibroblasts (Li et al., Biochem. J, 301, 585-590, 1994).
N, Li, D S, Rosenblatt, B, Seetharam
openaire   +2 more sources

Immunodeficiency Associated with a Nonsense Mutation of IKBKB

Journal of Clinical Immunology, 2014
We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficiency and Pneumocystis jirovecii pneumonia which was ...
Nielsen, Christian, Jakobsen, Marianne A, Larsen, Martin Jakob, Müller, Amanda C, Hansen, Søren, Lillevang, Søren T, Fisker, Niels, Barington, Torben   +7 more
openaire   +3 more sources

Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay

Thrombosis Research, 2015
Protein C deficiency is a genetic disorder caused by mutations in the protein C gene (PROC). More than 10% of nonsense and frameshift mutations carrying premature termination codons have been identified in PROC, but the exact molecular mechanisms of these mutations on the pathogenesis of protein C deficiency remain unclear.The aim of this study is to ...
Chun-jie Luan, Wei Shen, Zhen Yu, Lei Chen, Yi Gu, Lin-yun Tang, Zhu-gang Wang, Letian Dai, Ming-min Gu   +8 more
openaire   +2 more sources

Translational readthrough induction of pathogenic nonsense mutations

European Journal of Medical Genetics, 2006
The treatment of genetic disorders is one of the biggest challenges lying ahead of modern medicine. While major advancements have been made in gene therapy, it is still far from achieving clinical success. However, other potential methods for treating single gene related diseases have also emerged recently.
openaire   +2 more sources

PTC124 targets genetic disorders caused by nonsense mutations

Nature, 2007
Nonsense mutations promote premature translational termination and cause anywhere from 5-70% of the individual cases of most inherited diseases. Studies on nonsense-mediated cystic fibrosis have indicated that boosting specific protein synthesis from
Ellen M, Welch, Elisabeth R, Barton, Jin, Zhuo, Yuki, Tomizawa, Westley J, Friesen, Panayiota, Trifillis, Sergey, Paushkin, Meenal, Patel, Christopher R, Trotta, Seongwoo, Hwang, Richard G, Wilde, Gary, Karp, James, Takasugi, Guangming, Chen, Stephen, Jones, Hongyu, Ren, Young-Choon, Moon, Donald, Corson, Anthony A, Turpoff, Jeffrey A, Campbell, M Morgan, Conn, Atiyya, Khan, Neil G, Almstead, Jean, Hedrick, Anna, Mollin, Nicole, Risher, Marla, Weetall, Shirley, Yeh, Arthur A, Branstrom, Joseph M, Colacino, John, Babiak, William D, Ju, Samit, Hirawat, Valerie J, Northcutt, Langdon L, Miller, Phyllis, Spatrick, Feng, He, Masataka, Kawana, Huisheng, Feng, Allan, Jacobson, Stuart W, Peltz, H Lee, Sweeney   +41 more
openaire   +2 more sources

Common nonsense mutations in RAD52.

Cancer research, 1999
RAD51, RAD52, and RAD54 encode proteins that are critical to the repair of double-strand DNA breaks by homologous recombination. The physical interactions among the products of RAD51, BRCA1, and BRCA2 have suggested that the BRCA1 and BRCA2 breast cancer susceptibility genes may function, at least in part, in this DNA damage repair pathway.
D W, Bell, D C, Wahrer, D H, Kang, M S, MacMahon, M G, FitzGerald, C, Ishioka, K J, Isselbacher, M, Krainer, D A, Haber   +8 more
openaire   +1 more source

PTC124, nonsense mutations and Duchenne muscular dystrophy

Neuromuscular Disorders, 2007
What the journals ...
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Aminoglycoside suppression of nonsense mutations in severe hemophilia

Blood, 2005
AbstractAminoglycoside antibiotics exhibit their bactericidal effect by interfering with normal ribosomal activity. In this pilot study, we have evaluated the effect of the aminoglycoside antibiotic gentamicin on the factor VIII (FVIII) and IX levels of severe hemophiliacs with known nonsense mutations.
Paula D, James, Sanj, Raut, Georges E, Rivard, Man-Chiu, Poon, Margaret, Warner, Susan, McKenna, Jayne, Leggo, David, Lillicrap   +7 more
openaire   +2 more sources

Nonsense Mutation

2011
  +4 more sources