Results 61 to 70 of about 1,412,344 (374)
Stem Cell Research, 2023 Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either TSC1 or TSC2.
Hiroki Ura +4 more
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Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii [PDF]
, 2018 Intraflagellar transport moves proteins in and out of flagella/cilia and it is essential for the assembly of these organelles. Using whole-genome sequencing, we identified splice site mutations in two IFT genes,
Dutcher, Susan K. +3 more
core +2 more sources
Variable readthrough responsiveness of nonsense mutations in hemophilia A
Haematologica, 2019 Readthrough therapy relies on the use of small molecules that enable premature termination codons in mRNA open reading frames to be misinterpreted by the translation machinery, thus allowing the generation of full-length, potentially functional proteins from mRNA carrying nonsense mutations. In patients with hemophilia A, nonsense mutations potentially
Rafael Parra +4 more
openaire +5 more sources
BMC Medical Genomics, 2009 Background Gastric cancers frequently show chromosomal alterations which can cause activation of oncogenes, and/or inactivation of tumour suppressor genes. In gastric cancer several chromosomal regions are described to be frequently lost, but for most of
Ylstra Bauke +7 more
doaj +1 more source
Positions of early nonsense and deletion mutations in lacZ [PDF]
Journal of Bacteriology, 1980 The positions of three Escherichia coli lacZ operator-proximal nonsense mutations and one deletion mutation have been determined. The nonsense mutations were suppressed with supF, resulting in the production of active beta-galactosidase by each strain. Amino acid sequencing identified the positions of the tyrosine residues inserted by supF, and thereby
Irving Zabin +3 more
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Nonsense mutations in the can1 locus of Saccharomyces cerevisiae [PDF]
Journal of Bacteriology, 1983 Yeast mutants resistant to L-canavanine were selected. All were recessive and fell into the can1 complementation group. Nonsense mutations were identified among them by using a set of different suppressors. Frequencies of UAA, UAG, and presumed UGA mutations were 14.8, 0.8, and 0.4%, respectively.
S Shinoda, Bun-Ichiro Ono, Y Ishino
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Diagnosis of nonsense mutations in Aspergillus nidulans
Bioscience Reports, 1983 Three genotypically suppressible alleles,alX4, alcA125, and niaD500, are phenotypically suppressed by aminoglycoside antibiotics. Unsuppressible alleles at these loci are unaffected as are known missense mutations at the yA and gdhA loci. This is consistent with the premise that the suppressible mutations are nonsense and that this highly-allele ...
T. J. Roberts, S. D. Martinelli
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Molecular Oncology, EarlyView.Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser +11 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2021 Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo +4 more
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UGA Nonsense Mutations in Salmonella typhimurium [PDF]
Journal of Bacteriology, 1970 Salmonella typhimurium strain LT-2 carries a weak UGA suppressor activity. This activity prevents the detection of some UGA mutants as auxotrophs and probably accounts for the rarity of his UGA mutants in this strain.
openaire +3 more sources