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

• Main Authors: Xianming Wang (Author), Michael Sterr (Author), Ansarullah (Author), Ingo Burtscher (Author), Anika Böttcher (Author), Julia Beckenbauer (Author), Johanna Siehler (Author), Thomas Meitinger (Author), Hans-Ulrich Häring (Author), Harald Staiger (Author), Filippo M. Cernilogar (Author), Gunnar Schotta (Author), Martin Irmler (Author), Johannes Beckers (Author), Christopher V.E. Wright (Author), Mostafa Bakhti (Author), Heiko Lickert (Author)
• Format: Book
• Published: Elsevier, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...