Frame shift
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children
... Besides two novel variants in NIPBL, a frame shift variant c.1715delC in CREBBP was also obtained. CREBBP is one of pathogenic genes of Rubinstein-Taybi syndrome. The gene encodes cyclic-AMP-regulated ...
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Functional analysis of a frame-shift mutant of the dihydropyridine receptor pore subunit (α1S) expressing two complementary protein fragments
... The mechanism by which the DHPR signals the RyR1 is poorly understood [12,13]. Domains in the cytoplasmic linker between repeats II and III have been clearly impli- cated [14–19], and some regions such as Thr671-Lue690 ...
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Molecular basis of argininemia Identification of two discrete frame shift deletions in the liver type arginase gene
... reading-frame shift after amino acid residue 87 and make a new stop codon at residue ...reading- frame shift after residue 26 and make a stop codon at residue ...
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EVIDENCE FAVORING A FRAME SHIFT MECHANISM FOR ICR-170 INDUCED MUTATIONS IN DROSOPHILA MELANOGASTER
... If the action of ICR-170 does not parallel the results of known alkylating agents (radiomimetic and non-radiomimetic) it suggests that the muta- tions produced by ICR-170 involve[r] ...
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Annotated bacterial chromosomes from frame-shift-corrected long-read metagenomic data
... In addition, for ease of comparison with the long read results summarized in Table 1 , we also performed DIA- MOND + MEGAN taxonomic binning of the SR contigs (using the same parameters [r] ...
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Molecular Genetics of Autosomal Recessive Spinal Muscular Atrophy
... (1995) A frame-shift deletion in the survival motor neuron gene in Spanish spinal mus- cular atrophy patients. Roy N, Mahadevan MS, McLean M, et al[r] ...
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A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report
... In this study, we identified a novel homozygous frame-shift mutation (c.2738dupT) in exon 9 of the ASPM gene in an Iranian patient with MCPH through WES. This variant has not been previ- ously reported and ...
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Origin of Gene Overlap: The Case of TCP1 and ACAT2
... for a frame shift in the rest of the translated sequence Efforts to PCR amplify a product with one primer (Acat C1) located in the translated region of caiman ACAT2 (Figure 3).. We assum[r] ...
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Enhanced prostacyclin synthesis in endothelial cells by retrovirus mediated transfer of prostaglandin H synthase cDNA
... reading frame shift, did not show an increase in PGHS protein or in PGI2 synthesis, while those with PGHS-1 in reverse orientation relative to the viral promoter (PGHS(R)), produced a > 10- fold increase ...
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FRAMESHIFT SUPPRESSION BY thyA MUTANTS OF ESCHERICHIA COLI K-12
... We have extended our previous study on the suppression of frameshift mu- tants by Escherichia coli thyA mutants by assaying suppression of 15 rIIB frame- shift mutants [r] ...
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Properties of r Mutants of Bacteriophage T4 Photodynamically Induced in the Presence of Thiopyronin and Psoralen
... Mutants induced to revert by proflavine are considered to contain deletions or additions of small numbers of base pairs, and are called sign mutants or reading frame shift mutants... 266[r] ...
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Investigating and Manipulating Major Histocompatibility Complex (MHC) Class I-Restricted Peptide Epitopes and Cognate T-cell Responses.
... Supplemental Figure 1 shows the design of primer sequences used to amplify the genomic H2 loci. When comparing the H2-K1 locus with the H2-D1 locus, we found the sequences share 89% identity across the aligned regions ...
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Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
... (XPF), ERCC5 (XPG), ERCC8 (CSA) and XPA. We observed P/LP mutations in six of these genes in total identifying 13 in cases and eight in controls (Table 2, 1.5 vs 0.5 %, P = 0.011; 15 vs 9 including LP missense, P = ...
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A study of the molecular basis of the lysosomal storage disorder fucosidosis
... Firstly it results in a frame shift that changes the subsequent amino acid sequence from S K Y P D L in the normal to A I N L I TERM in patient 4 resulting in the termination of prote[r] ...
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Grapheme Segmentation of Tamil Speech Signals using Excitation Information with MFCC and LPCC Features
... The speech signal is decomposed into a sequence of overlapping frames. The frame size of 25 ms and 10ms frame shift were used for the segmentation approach considered. The input speech data are pre ...
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A statistical frame based TDMA protocol for human body communication
... STEM protocol [31] are not practical since their complexity and requirement for extra hardware. Moreover, contention-based solutions are not applicable to the situation where traffic is correlated. For example, a patient ...
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The Public Debate on Natural Gas Extraction in Groningen: A Shift of Framing and its Regulatory Consequences
... media frame analysis is that of Semetko and Valkenburg ...‘conflict frame’, ‘human interest frame’, ‘economic consequences frame’, ‘morality frame’ and ‘responsibility ...conflict ...
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Postural costs of performing cognitive tasks in non coincident reference frames
... two frame conditions is complicated, however, by the fact that search performance differed across frame ...between frame coincidence and search-load on search RT showing that increased search-load ...
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Comparision of effectiveness of structural frame systems in tall buildings (RIGID FRAME and BRACED FRAME)
... Growth of high rise building has always depends upon available material and level of construction technology and the state of developing of the services necessary from time for the use of the building. The primary design ...
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Wave envelopes with second order spatiotemporal dispersion: II Modulational instabilities and dark Kerr solitons
... Conventional nonlinear theories of dark soliton stability are routinely performed in the local time frame. They are also based on a renormalization procedure, whereby the continuous infinity of degrees-of-freedom ...
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