• No results found

premature termination

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa

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 COL7A1 ...

8

A single nucleotide substitution introduces a premature termination codon into the androgen receptor gene of a patient with receptor negative androgen resistance

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 ...

8

Tryptic peptide analyses of polypeptides generated by premature termination of cell-free protein synthesis allow a determination of the Rauscher leukemia virus gag gene order.

Tryptic peptide analyses of polypeptides generated by premature termination of cell-free protein synthesis allow a determination of the Rauscher leukemia virus gag gene order.

... Tryptic Peptide Analyses of Polypeptides Generated by Premature Termination of Cell-Free Protein Synthesis Allow a Determination of the Rauscher Leukemia Virus gag Gene Order Received fo[r] ...

7

CRISPR induced exon skipping is dependent on premature termination codon mutations

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 premature ...

5

Mutation causing premature termination of the polyoma virus medium T antigen blocks cell transformation.

Mutation causing premature termination of the polyoma virus medium T antigen blocks cell transformation.

... 1014-1024 0022-538X/82/031014-11$02.00/0 Mutation Causing Premature Termination of the Polyoma Virus Medium T Antigen Blocks Cell Transformation DENNIS TEMPLETON AND WALTER ECKHART* Tumo[r] ...

11

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense mediated mRNA decay

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense mediated mRNA decay

... Dominant mutations in the gene encoding the mRNA splicing factor PRPF31 cause retinitis pigmentosa, a hereditary form of retinal degeneration. Most of these mutations are characterized by DNA changes that lead to ...

14

Premature termination and processing of human immunodeficiency virus type 1-promoted transcripts.

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] ...

9

Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons

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 ...

15

Variable expression of cerebral cavernous malformations in carriers of a premature termination codon in exon 17 of the Krit1 gene

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 ...

6

A Premature Termination Codon Mutation at the C Terminus of Foamy Virus Gag Downregulates the Levels of Spliced pol mRNA

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 (C. R. Stenbak and M. L. Linial, J. Virol. 78:9423–9430, 2004). To further characterize these mutants, we ...

9

Priming of duck hepatitis B virus reverse transcription in vitro: premature termination of primer DNA induced by the 5'-triphosphate of fialuridine.

Priming of duck hepatitis B virus reverse transcription in vitro: premature termination of primer DNA induced by the 5'-triphosphate of fialuridine.

... Using the mutant having the bulge sequence 5'-GUAC-3' plasmid D2/GUAC, which serves as the RNA template for primer DNA having the nucleotide sequence 5'-GTAC-3', we found that FIAU-TP ha[r] ...

5

Premature termination of variable gene rearrangement in B lymphocytes from X linked agammaglobulinemia

Premature termination of variable gene rearrangement in B lymphocytes from X linked agammaglobulinemia

... We have shown that the pre-B cells from three patients with the major form of XLA produce a truncated g -chain, lacking 300 nucleotides of 5' terminal sequence 9, due to transcription of[r] ...

7

Premature termination of transcription of the murine c-myc gene

Premature termination of transcription of the murine c-myc gene

... for termination (figures ...on termination efficiency ...should termination be specified by some feature o f the prom oter, then this feature must be inherent to all o f the heterologous promoters ...

249

Mutational Mtc6p attenuates autophagy and improves secretory expression of heterologous proteins in Kluyveromyces marxianus

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] ...

14

TeleSpeech Therapy Pilot Project: Stakeholder Satisfaction

TeleSpeech Therapy Pilot Project: Stakeholder Satisfaction

... However, the fact that overall high ratings of satisfaction were received despite the premature termination in the TeleSpeech Therapy pilot project indicates a strong positive percept[r] ...

8

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

A novel, homozygous mutation in desert hedgehog (DHH) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report

... Cases of complete gonadal dysgenesis tended to have more damaging mutations (failure of translation or premature termination) [ 12 , 13 ] than the reported sisters with partial gonadal d[r] ...

9

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

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

... There are other rare instances where amino-terminally truncated proteins are generated by downstream initiation after premature termination in the extreme amino terminus. However, in all of these cases the ...

7

Unproductive alternative splicing and nonsense mRNAs: A widespread phenomenon among plant circadian clock genes

Unproductive alternative splicing and nonsense mRNAs: A widespread phenomenon among plant circadian clock genes

... Our recent RNA-seq survey of the Arabidopsis tran- scriptome suggested that some circadian clock genes undergo extensive alternative splicing (AS) yielding single or multiple splice isoforms [2]. Further, some specific ...

15

CITRIC: cold-inducible translational readthrough in the chloroplast of Chlamydomonas reinhardtii using a novel temperature-sensitive transfer RNA

CITRIC: cold-inducible translational readthrough in the chloroplast of Chlamydomonas reinhardtii using a novel temperature-sensitive transfer RNA

... of premature termination codons (PTCs) is known to be triggered by certain chemicals, includ- ing some aminoglycosides, a phenomenon exploited in the search for treatments for PTC-associated genetic ...

12

Protocols  for  Multiparty  Coin  Toss  With  Dishonest  Majority

Protocols for Multiparty Coin Toss With Dishonest Majority

... of premature termination already in the first round, the remaining parties engage in a fully secure protocol (with honest majority) to toss a completely random ...

45

Show all 2609 documents...

Related subjects