Top Most 14+ What Is A Truncation Mutation
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1.Truncating Variant - Genomics Education Programme
Definition. A genetic variant which results in a shorter version of the protein being produced . May 31, 2019
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2.Terminology Of Molecular Biology For Truncation - GenScript
Elimination of the N- or C-terminal portion of a protein by proteolysis or manipulation of the structural gene, or premature termination of protein ...
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3.Protein-truncating Variants - Wikipedia
Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes, through ways like a stop-gain mutation.
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4.Impact Of Predicted Protein-truncating Genetic Variants On The Human ...
Genetic variants predicted to shorten the coding sequence of genes – termed protein-truncating variants (PTVs) – are typically expected to have large effects on ... Abstract · Acknowledgments
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5.Truncation Mutations In The Transactivation Region Of PAX6 Result In ...
Aug 21, 1998 · It is believed that the mutated allele of PAX6 produces an inactive protein and aniridia is caused due to genetic haploinsufficiency. However, ...
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6.Medical Relevance Of Protein-truncating Variants Across ... - Nature
Apr 24, 2018 · Protein-truncating variants (PTVs), genetic variants predicted to shorten the coding sequence of genes, are a promising set of variants for drug ...
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7.Truncation Mutations In The Transactivation Region Of PAX6 Result ...
Kinetic studies of binding and dissociation revealed that various truncation mutants have 3–5-fold higher affinity to various DNA-binding sites when compared ...
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8.Truncation Mutations In ABCA1 Suppress Normal Upregulation Of Full ...
For example, truncation mutations result in significantly lower HDL-C and apoliprotein A-I (apoA-I) levels in heterozygotes compared with nontruncation ...
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9.Truncated BRCA2 Is Cytoplasmic: Implications For Cancer ... - PNAS
The vast majority of BRCA2 mutations are predicted to result in a truncated protein product. The smallest known cancer-associated deletion removes from the C ...
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10.May A Missense Mutation Be More Deleterious Than A Truncating ...
As a consequence of gene mutations, it is possible to recog- nize two main classes of mutated proteins: (i) proteins carrying a missense mutation(s), resulting ...
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11.Expression And Characterization Of Wild Type, Truncated, And Mutant ...
Aug 15, 2022 · The ~43""~' was obtained from Oncogene Science. Rat brain protein kinase C was from Calbiochem. HPTPp Truncations and Mutations-HPTPp cDNA was ...
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12.A Novel Truncating Mutation In HOMER2 Causes Nonsyndromic ...
This frameshift mutation produces a premature stop codon that may lead in the absence of NMD to a shorter variant (p.Pro278Alafs*10) that truncates HOMER2 at ...
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13.Selective Translational Repression Of Truncated Proteins ... - PLOS
Apr 24, 2007 · Frameshift and nonsense mutations are common in tumors with microsatellite instability, and mRNAs from these mutated genes have premature ...
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14.An ELISA-based High Throughput Protein Truncation Test For Inherited ...
Oct 4, 2010 · An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As ...
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