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Current knowledge of the KCNQ1 protein in INS-1-cells and the association of the KCNQ1 polymorphisms with type 2 diabetes in two large Japanese studies [15], [16] led us to investigate a role for these variants in type 2 diabetes-related quantitative traits (especially serum insulin release) in the population-based Inter99 study sample.
Variants in type IV collagen genes may lower the threshold for hematuria [ 8, 9].
Notably, rs13266634 has been one of the most replicated genetic risk variants in type 2 diabetes (50).
These observations might help to determine the role of KLF11 variants in Type 2 diabetes in different populations.
The aim of this study was to assess the role of low frequency PDX1 (also called IPF1) variants in Type 2 diabetes.
Finally, genome-wide analysis of low frequency variants in large sample populations may provide additional insights into the role of low frequency variants in Type 2 diabetes.
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SNPs and indels were also called against the FH (type 2) reference genome, and the results were similar with about 1500 variants and 200 variants detected in type 1 and type 2 strains, respectively.
We identified 56 variants resulting in Type 2 splicing, 38 of which (67.7%) were accurately predicted, while the remaining 119 variants resulted in Type 3 cryptic splicing and 99 (90.8%) of the alternate splice sites matched predictions.
Of these, 38 variants resulted in Type 1 cryptic splicing.
To date, most genetic variants identified in type 2 diabetes relate to β-cell function rather than insulin resistance (31).
Despite the successful identification of many common variants involved in Type 2 diabetes, they explain only a fraction of the estimated genetic component.
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