a, cAMP generation in BHK cells stimulated by forskolin (1 μM, in the presence of 100 μM IBMX). An asterisk indicates significant differences: CON (n = 18) vs. WT (n = 18) P < 0.001, CON (n = 18) vs. mutant V (n = 8) P < 0.001; no ...
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Functional deciphers revealed that the mutant MEF2C protein had a significantly decreased transcriptional activity. Furthermore, the mutation significantly reduced the synergistic activation between MEF2C and GATA4, another transcription factor linked to CHD. This study firstly associates MEF2C loss-of-...
The UGDH oxidoreductase consists of three distinct domains14: the NAD-binding (N-terminal) and UDP-binding (C-terminal) domains, and an internal domain that bridges the two termini together14. The UGDH enzyme assembles into a disc-shaped double layer composed of a trimer of dimers6(Suppl. F...
Gene expression analysis revealed the loss-of-function ofCsGL3in the mutant due to the insertion of a 5-kb long terminal repeat (LTR) retrotransposon in the 4th exon ofCsGL3. Linkage analysis in a segregating population and gene expression analysis of theCsGL1andCsGL3genes incsgl1,csgl3, ...
Moreover, our results indicate that allosteric modulators can restore the activity of the loss-and gain-of-function mutant CASRs, identified in this study. 展开 关键词: FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AUTOSOMAL-DOMINANT HYPOCALCEMIA EXTRACELLULAR CA2+-SENSING RECEPTOR ACTIVATING MUTATIONS GENE ...
30% hit mutational hotspot residues, resulting in a complete loss of transcriptional activity and mutant p53-driven chemotherapy resistance. Of the remaining 70% of non-hotspot mutants, many are partial loss-of-function (partial-LOF) mutants with residual transcriptional activity. The therapeutic ...
In conclusion, the introduction of thegs3mutant allele in rice decreased methane emissions and showed an additive effect with low nitrogen input. The nullgs3allele increased sink strength by enhancing the allocation of photosynthates to above-ground (grain) rather than to below-ground (root), contr...
definitive function of MAEL in piRNA pathway remains unknown. MAEL was initially identified in a genetic loss-of-functionDrosophilamutant, whose germline cells exhibit incorrect posterior localizations of several transcripts (i.e., Gurken, Oskar and Bicoid) [12]. It is a germ plasm-specific ...
Glycome profiling revealed an increased extractability of some xylan and pectin epitopes from the cell walls of the cad1-1 mutant but decreased extractability of others, suggesting that aldehyde-dominant lignin significantly alters cell wall structure. 展开 ...