ArticleJournal of diabetes investigation2019
Case of a novel PAX6 mutation with aniridia and insulin-dependent diabetes mellitus.
Article in Journal of diabetes investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Review
- Paired box 6 gene delivery preserves beta cells and improves islet transplantation efficacy.EMBO molecular medicine · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- A distinct role of STING in regulating glucose homeostasis through insulin sensitivity and insulin secretion.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.JCI insight · 2021Observational
- Transient Hyperinsulinemic Hypoglycemia Linked toMedicina (Kaunas, Lithuania) · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We present a case of a novel PAX6 heterozygous mutation with aniridia and insulin-dependent diabetes mellitus.To the best of our knowledge, this is the first case of its mutation with a complete loss of insulin secretory capacity. We believe that our letter will add new knowledge to diabetes mellitus associated with PAX6 mutations and might help us to understand the role of PAX6 in beta-cell development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.