Results 261 to 270 of about 1,404,124 (275)

Beta‐sitosterolaemia: a new nonsense mutation in the ABCG5 gene

European Journal of Clinical Investigation, 2007
AbstractBackground  Sitosterolaemia is a rare autosomal recessive disorder characterised by elevated plasma levels of plant sterols and cholesterol. Sitosterolaemia is caused by gene mutations in either of two ATP‐binding cassette (ABC) half transporters, ABCG5 and ABCG8.
L. MANNUCCI, GUARDAMAGNA, Ornella, P. BERTUCCI, L. PISCIOTTA, L. LIBERATOSCIOLI, S. BERTOLINI, C. IRACE, A. GNASSO, G. FEDERICI, C. CORTESE   +9 more
openaire   +7 more sources

PTC124-mediated translational readthrough of a nonsense mutation causing Usher syndrome type 1C.

Human Gene Therapy, 2011
We investigated the therapeutic potential of the premature termination codon (PTC) readthrough-inducing drug PTC124 in treating the retinal phenotype of Usher syndrome, caused by a nonsense mutation in the USH1C gene.
T. Goldmann, N. Overlack, U. Wolfrum, K. Nagel-Wolfrum   +3 more
semanticscholar   +1 more source

PTC124, nonsense mutations and Duchenne muscular dystrophy

Neuromuscular Disorders, 2007
What the journals ...
openaire   +3 more sources

Nonsense Mutations and tRNA Suppressors [PDF]

Biochemical Society Transactions, 1980
openaire   +1 more source

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

Nonsense mutations and diminished mRNA levels

Nature Genetics, 1993
Ada Hamosh, Harry C. Dietz, Iain McIntosh   +2 more
openaire   +3 more sources

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

Journal of Medical Genetics, 2015
M. Corbett, T. Dudding-Byth, P. Crock, E. Botta, Louise Christie, T. Nardò, G. Caligiuri, Lynne Hobson, Jackie Boyle, A. Mansour, K. Friend, J. Crawford, G. Jackson, Lucianne Vandeleur, A. Hackett, P. Tarpey, M. Stratton, G. Turner, J. Gécz, M. Field   +19 more
semanticscholar   +1 more source

Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

Nature, 2013
U. Styrkársdóttir, G. Thorleifsson, P. Sulem, D. Gudbjartsson, A. Sigurdsson, Á. Jónasdóttir, Adalbjorg Jonasdottir, A. Oddsson, A. Oddsson, A. Helgason, O. Magnusson, G. Walters, M. Frigge, Hafdis T Helgadottir, Hrefna Johannsdottir, K. Bergsteinsdottir, M. H. Ogmundsdottir, Tuan V. Nguyen, Tuan V. Nguyen, J. Eisman, C. Christiansen, E. Steingrimsson, J. Jónasson, L. Tryggvadottir, G. Eyjolfsson, Á. Theodórs, T. Jónsson, T. Ingvarsson, I. Olafsson, T. Rafnar, A. Kong, G. Sigurdsson, G. Másson, U. Thorsteinsdóttir, U. Thorsteinsdóttir, K. Stefánsson, K. Stefánsson   +36 more
semanticscholar   +1 more source

A nonsense mutation in two German patients with fucosidosis

Human Mutation, 1995
Hee-Chan Seo, John S. O'Brien, Erwin Lutz, Peter H. Heidemann   +3 more
openaire   +3 more sources

MutationTaster2: mutation prediction for the deep-sequencing age

Nature Methods, 2014
Jana Marie Schwarz, D. Cooper, M. Schuelke, D. Seelow   +3 more
semanticscholar   +1 more source