Premature Termination Codon
CRISPR induced exon skipping is dependent on premature termination codon mutations
... in premature termination codon-mutated rabbits but not in the rabbits with a premature termination codon mutation in exon 1 rabbits with non-frameshift or missense ...on ...
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A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor negative androgen resistance
... amplified exon segment was identical to that in normal individuals. The nucleotide sequence of the entire coding region of the androgen receptor was determined in one of these patients. A single nucleotide substitution ...
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A Premature Termination Codon Mutation at the C Terminus of Foamy Virus Gag Downregulates the Levels of Spliced pol mRNA
... termination codon (PTC) mutations in the 3 ⴕ shared exon led to greatly decreased levels of Pol protein ...missense codon in place of a PTC restored normal levels of spliced pol ...
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Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene
... The onset of cerebral hemorrhage in the 4-year-old proband was the main clinical finding in the CVE10 fam- ily. The retrospective study of siblings and parents showed minor symptoms though one sibling had epilepsy. The ...
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Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
... To confirm a TSC gene mutation, we performed whole exome sequencing for the six family members, generat- ing over 50 million reads (average mean target depth: 65×). In each family member, about 80,000 variants were ...
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Structural features in the Rous sarcoma virus RNA stability element are necessary for sensing the correct termination codon
... the termination codon is distant from the polyA tail and the polyA binding proteins ...stop codon and the polyA tail is usually relatively ...mination codon [25]. When a premature ...
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Antisense-mediated splicing correction approaches for retinal dystrophies and dysfunctions
... a premature stop codon, can constitute another important element to consider, especially in vivo where we have shown a general reduction of Cacna2d4 transcripts in the ...generate premature ...
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A nonsense mutation in the apolipoprotein C IIPadova gene in a patient with apolipoprotein C II deficiency
... a premature termination codon (TAA) at a position corresponding to amino acid 37 of mature apo C-II and to the formation of a new Rsa I restriction enzyme site not present in the normal apo C-II ...
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Mutational Mtc6p attenuates autophagy and improves secretory expression of heterologous proteins in Kluyveromyces marxianus
... a Alignment of the nucleotide sequences and deduced amino acid sequences between the wild‑type and the mutational MTC6 ; PTC was abbreviated from premature termination codon; b enzy[r] ...
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Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
... a premature termination codon in COL7A1, and the parents were shown to be clinically heterozygous carries of the respective ...mutations. Premature termination codons in both alleles of ...
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rd and 4 th generations cellular systems, such as exponential,
... the premature call termination probability is show as a function of new call arrival rate, and the premature call termination probability shows the same behavior as the handoff failure ...
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Protocols for Multiparty Coin Toss With Dishonest Majority
... In the hybrid-world the parties execute Functionality Reconstruction to select the appropriate bit (the functionality is fully secure, since an honest majority is guaranteed). In the ideal-world the simulator turns to ...
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Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons
... synthesis termination, either by re- ducing binding of the RF1 or RF2 to the A-site of the ribo- some, or by inhibiting the release of a peptide from the ribosome after binding of the release factors is completed ...
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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders
... population frequencies, no suitable candidates were found in a proband among the genes known to date that are responsible for Seckel syndrome. After ranking the variants by their functional consequences and population ...
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Premature termination and processing of human immunodeficiency virus type 1-promoted transcripts.
... When pulse-labeling was followed by 30 min of chase transcription in the presence of excess unlabeled UTP, the small RNAs that had accumulated during pulse-labeling were absent and were [r] ...
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An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita
... Examination of the DAX1 nucleotide sequence identified a putative internal in-frame translation start site, with a par- tially conserved Kozak consensus sequence flanking the me- thionine at codon 83 (AGCATGC) ...
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A photoactivatable small molecule probe for the in vivo capture of polyketide intermediates
... chain termination probes have allowed us to off-load and capture several putative biosynthetic intermediates, including partially and fully processed linear nonaketides such as 8 ...
6
Is Esterase-P Encoded by a Cryptic Pseudogene In Drosophila melanogaster?
... evidence: transcriptional activity, no premature termi- nation codons, intact splicing sites, presence of initia- tion and termination codons, significantly less replace- m[r] ...
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Significance of premature stop codons in env of simian immunodeficiency virus.
... The SIV.aC251 and SIVmaC142 infectious clones have premature stop signals that differ in location by one codon; transfection of these DNAs into human HUT-78 cells yielded virus with a tr[r] ...
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Nuclear retention of COL1A1 messenger RNA identifies null alleles causing mild osteogenesis imperfecta
... Studies that used transfection to assess RNA processing of a transcript containing a nonsense codon have not always re- produced the naturally occurring mutations and have yielded equally conflicting results. ...
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