Results 21 to 30 of about 640,277 (286)

Ataluren—Promising Therapeutic Premature Termination Codon Readthrough Frontrunner

Pharmaceuticals, 2021
Around 12% of hereditary disease-causing mutations are in-frame nonsense mutations. The expression of genes containing nonsense mutations potentially leads to the production of truncated proteins with residual or virtually no function.
Sylwia Michorowska
doaj   +1 more source

Procedure for Identifying Nonsense Mutations [PDF]

Journal of Bacteriology, 1968
A method has been devised for the rapid identification of nonsense mutations (UAG, UAA, UGA codons) in Salmonella . The mutations to be tested are reverted, and the revertants are replica-printed onto lactose plates spread with lawns of tester strains.
D, Berkowitz, J M, Hushon, H J, Whitfield, J, Roth, B N, Ames   +4 more
openaire   +2 more sources

An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]

, 2003
Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P, J. L. Jameson, A. Spada, Spada, A, G. Mantovani, Weiss, J, P. Beck-Peccoz, Ozisik, G, L. Persani, Achermann, JC, Mantovani, G, J. C. Achermann, J. Weiss, Persani, L, Jameson, JL, G. Ozisik   +15 more
core   +1 more source

dnaB125, a dnaB nonsense mutation [PDF]

Journal of Bacteriology, 1981
A temperature-sensitive dnaB mutation, dnaB125, was shown to be a suppressed amber mutation. The effects of inserting different amino acids at the mutated site via amber suppressors were examined for both Escherichia coli and bacteriophage gamma growth.
R A, Sclafani, J A, Wechsler
openaire   +2 more sources

Mutation testing on an object-oriented framework: An experience report [PDF]

, 2011
This is the preprint version of the article - Copyright @ 2011 ElsevierContext The increasing presence of Object-Oriented (OO) programs in industrial systems is progressively drawing the attention of mutation researchers toward this paradigm.
Sergio Segura, Segura, S, Benavides, D, Antonio Ruiz-Cortés, Ruiz Cortés, Antonio, Segura Rueda, Sergio, Robert M. Hierons, Benavides Cuevas, David Felipe, Hierons, Robert M., David Benavides, Hierons, RM, Ruiz-Cortes, A   +11 more
core   +1 more source

Albinism in the American mink (Neovison vison) is associated with a tyrosinase nonsense mutation [PDF]

, 2008
Albino phenotypes are documented in various species including the American mink. In other species the albino phenotypes are associated with tyrosinase (TYR) gene mutations; therefore TYR was considered the candidate gene for albinism in mink.
Anistoroaei, R, Christensen, K, Leeb, T., Leeb, Tosso, R. Anistoroaei, K. Christensen, Christensen, Knud, Anistoroaei, Razvan Marian, Fredholm, Merete, M. Fredholm, T. Leeb, Fredholm, M   +11 more
core   +1 more source

Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood [PDF]

, 2005
BACKGROUND: Pulmonary arterial hypertension (PAH) is a potentially fatal vasculopathy that can develop at any age. Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1.
Haworth, SG, Berger, R; id_orcid, Aldred, M A, Morrell, NW, Harrison, RE, Morrell, Nicholas W., Morrell, N W, Mache, CJ, Haworth, S G, Trembath, R C, Mache, Christoph J., Aldred, MA, Trembath, RC, Berger, Rolf, Aldred, Micheala A., Berger, R, Tulloh, R, Harrison, R E, Harrison, Rachel E., Haworth, Sheila G., Mache, C J, Trembath, Richard C., Tulloh, Robert   +22 more
core   +1 more source

Rescue of nonsense mutations by amlexanox in human cells

Orphanet Journal of Rare Diseases, 2012
Background Nonsense mutations are at the origin of many cancers and inherited genetic diseases. The consequence of nonsense mutations is often the absence of mutant gene expression due to the activation of an mRNA surveillance mechanism called nonsense ...
Gonzalez-Hilarion Sara, Beghyn Terence, Jia Jieshuang, Debreuck Nadège, Berte Gonzague, Mamchaoui Kamel, Mouly Vincent, Gruenert Dieter C, Déprez Benoit, Lejeune Fabrice   +9 more
doaj   +1 more source

Suppression of dnaE nonsense mutations by pcbA1 [PDF]

Journal of Bacteriology, 1989
DNA polymerase III has been recognized as the required replication enzyme in Escherichia coli. The synthesis subunit of DNA polymerase III holoenzyme (alpha subunit) is encoded by the dnaE gene. We have reported that E. coli cells can survive and grow in the absence of a functional dnaE gene product if DNA polymerase I and the pcbA1 mutation are ...
H, Maki, S K, Bryan, T, Horiuchi, R E, Moses   +3 more
openaire   +2 more sources

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Biomedicines, 2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia.
Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli   +14 more
doaj   +1 more source