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The total number of mutations identified is continuously growing due to mutational analyses in different patient cohorts by competitive research groups once a gene has initially been found.
So far, mutational analyses in multiple populations identified loss of function mutants of SHP gene involved in mild obesity, increased birth weight and insulin levels.
We also mapped the ligand-binding residues on the Alba3 surface to analyze its druggability and performed mutational analyses in Alba3 using alanine scanning to identify residues involved in its function and structural stability.
To explore potential functional roles for the structurally observed polymerase-polymerase interactions, we have performed RNA binding and extension studies of mutant polymerase proteins in solution, disulfide cross-linking studies, mutational analyses in cells, in vitro activity analyses and RNA substrate modeling studies.
The majority of molecular studies on the development of the skull roof have drawn upon mutational analyses in murine models and genetic linkage in humans.
Mutational analyses in Arabidopsis have led to the identification of several genes that are involved in ABA signaling pathways.
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Consequently, mutation analyses in many cancers have highlighted the MH2 domain of SMAD4 as a mutational hotspot [ 29].
These sites also represent potential novel targets in biotechnology for mutational analyses or in paleobiochemical experiments designed to resurrecting the ancestral function of the lipase/feruloyl esterase gene [ 29- 31].
In recent years, cytogenetic and mutational analyses - in conjunction with molecular profiling technologies - have revealed that this histologic heterogeneity is underpinned by diverse gene expression signatures, thought to represent the different cell lineages of the mammary gland and stages of mammary epithelial cell differentiation [ 4, 17].
10 Previous mutational analyses performed in Spanish arSTGD patients led to the identification of a prevalent disease-associated allele, the p.Arg1129Leu variant.
Comprehensive mutational analyses, characterized both in situ and in vitro, indicated that the interaction network is not redundant but rather complementary.
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