A case of early-onset diabetes with impaired insulin secretion carrying a PAX6 gene Gln135* mutation

SUMMARY: A paired homeodomain transcription factor, PAX6 (paired-box 6), is essential for the development and differentiation of pancreatic endocrine cells as well as ocular cells. Despite the impairment of insulin secretion observed in PAX6-deficient mice, evidence implicating causal association be...

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Detalles Bibliográficos
Autores principales: Sekiya, Motohiro, Yuhara, Mikiko, Murayama, Yuki, Ohyama Osawa, Mariko, Nakajima, Rikako, Ohuchi, Nami, Matsumoto, Nako, Yamazaki, Daichi, Mori, Sayuri, Matsuda, Takaaki, Sugano, Yoko, Osaki, Yoshinori, Iwasaki, Hitoshi, Suzuki, Hiroaki, Shimano, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422263/
https://www.ncbi.nlm.nih.gov/pubmed/35979842
http://dx.doi.org/10.1530/EDM-22-0271

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422263/
https://www.ncbi.nlm.nih.gov/pubmed/35979842
http://dx.doi.org/10.1530/EDM-22-0271

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