Point mutations in the PDX1 transactivation domain impair human β-cell development and function

OBJECTIVE: Hundreds of missense mutations in the coding region of PDX1 exist; however, if these mutations predispose to diabetes mellitus is unknown. METHODS: In this study, we screened a large cohort of subjects with increased risk for diabetes and identified two subjects with impaired glucose tole...

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Detalhes bibliográficos
Publicado no:Mol Metab
Main Authors: Wang, Xianming, Sterr, Michael, Ansarullah, Burtscher, Ingo, Böttcher, Anika, Beckenbauer, Julia, Siehler, Johanna, Meitinger, Thomas, Häring, Hans-Ulrich, Staiger, Harald, Cernilogar, Filippo M., Schotta, Gunnar, Irmler, Martin, Beckers, Johannes, Wright, Christopher V.E., Bakhti, Mostafa, Lickert, Heiko
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2019
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6531841/
https://ncbi.nlm.nih.gov/pubmed/30930126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molmet.2019.03.006
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