Autosomal dominant diabetes arising from a wolfram syndrome 1 mutation
Diabetes, ISSN: 0012-1797, Vol: 62, Issue: 11, Page: 3943-3950
2013
- 96Citations
- 71Captures
- 2Mentions
Metric Options: Counts1 Year3 YearSelecting the 1-year or 3-year option will change the metrics count to percentiles, illustrating how an article or review compares to other articles or reviews within the selected time period in the same journal. Selecting the 1-year option compares the metrics against other articles/reviews that were also published in the same calendar year. Selecting the 3-year option compares the metrics against other articles/reviews that were also published in the same calendar year plus the two years prior.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations96
- Citation Indexes96
- 96
- CrossRef80
- Captures71
- Readers71
- 71
- Mentions2
- Blog Mentions1
- Blog1
- References1
- Wikipedia1
Article Description
We used an unbiased genome-wide approach to identify exonic variants segregating with diabetes in a multigenerational Finnish family. At least eight members of this family presented with diabetes with age of diagnosis ranging from 18 to 51 years and a pattern suggesting autosomal dominant inheritance. We sequenced the exomes of four affected members of this family and performed follow-up genotyping of additional affected and unaffected family members. We uncovered a novel nonsynonymous variant (p.Trp314Arg) in the Wolfram syndrome 1 (WFS1) gene that segregates completely with the diabetic phenotype. Multipoint parametric linkage analysis with 13 members of this family identified a single linkage signal with maximum logarithm of odds score 3.01 at 4p16.2-p16.1, corresponding to a region harboring the WFS1 locus. Functional studies demonstrate a role for this variant in endoplasmic reticulum stress, which is consistent with the β-cell failure phenotype seen in mutation carriers. This represents the first compelling report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes. © 2013 by the American Diabetes Association.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84891679935&origin=inward; http://dx.doi.org/10.2337/db13-0571; http://www.ncbi.nlm.nih.gov/pubmed/23903355; https://diabetesjournals.org/diabetes/article/62/11/3943/33914/Autosomal-Dominant-Diabetes-Arising-From-a-Wolfram; https://dx.doi.org/10.2337/db13-0571; http://diabetes.diabetesjournals.org/cgi/doi/10.2337/db13-0571; http://hw-f5-diabetes.highwire.org/content/62/11/3943; http://hw-f5-diabetes.highwire.org/content/62/11/3943.abstract; http://hw-f5-diabetes.highwire.org/content/62/11/3943.full.pdf; https://diabetes.diabetesjournals.org/content/62/11/3943; https://diabetes.diabetesjournals.org/content/62/11/3943.abstract; https://diabetes.diabetesjournals.org/content/diabetes/62/11/3943.full.pdf; http://diabetes.diabetesjournals.org/lookup/doi/10.2337/db13-0571; http://diabetes.diabetesjournals.org/content/62/11/3943
American Diabetes Association
Provide Feedback
Have ideas for a new metric? Would you like to see something else here?Let us know