Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus

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 mellitu...

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Autores principales: Motoda, Saori, Fujita, Shingo, Kozawa, Junji, Kimura, Takekazu, Fukui, Kenji, Ikuno, Yasushi, Imagawa, Akihisa, Iwahashi, Hiromi, Shimomura, Iichiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400195/
https://www.ncbi.nlm.nih.gov/pubmed/30151985
http://dx.doi.org/10.1111/jdi.12902
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author Motoda, Saori
Fujita, Shingo
Kozawa, Junji
Kimura, Takekazu
Fukui, Kenji
Ikuno, Yasushi
Imagawa, Akihisa
Iwahashi, Hiromi
Shimomura, Iichiro
author_facet Motoda, Saori
Fujita, Shingo
Kozawa, Junji
Kimura, Takekazu
Fukui, Kenji
Ikuno, Yasushi
Imagawa, Akihisa
Iwahashi, Hiromi
Shimomura, Iichiro
author_sort Motoda, Saori
collection PubMed
description 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. [Image: see text]
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spelling pubmed-64001952019-03-14 Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus Motoda, Saori Fujita, Shingo Kozawa, Junji Kimura, Takekazu Fukui, Kenji Ikuno, Yasushi Imagawa, Akihisa Iwahashi, Hiromi Shimomura, Iichiro J Diabetes Investig Letter to the Editor 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. [Image: see text] John Wiley and Sons Inc. 2018-08-27 2019-03 /pmc/articles/PMC6400195/ /pubmed/30151985 http://dx.doi.org/10.1111/jdi.12902 Text en © 2018 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Letter to the Editor
Motoda, Saori
Fujita, Shingo
Kozawa, Junji
Kimura, Takekazu
Fukui, Kenji
Ikuno, Yasushi
Imagawa, Akihisa
Iwahashi, Hiromi
Shimomura, Iichiro
Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
title Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
title_full Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
title_fullStr Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
title_full_unstemmed Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
title_short Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
title_sort case of a novel pax6 mutation with aniridia and insulin‐dependent diabetes mellitus
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400195/
https://www.ncbi.nlm.nih.gov/pubmed/30151985
http://dx.doi.org/10.1111/jdi.12902
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