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

• প্রধান লেখক: Xianming Wang (লেখক), Michael Sterr (লেখক), Ansarullah (লেখক), Ingo Burtscher (লেখক), Anika Böttcher (লেখক), Julia Beckenbauer (লেখক), Johanna Siehler (লেখক), Thomas Meitinger (লেখক), Hans-Ulrich Häring (লেখক), Harald Staiger (লেখক), Filippo M. Cernilogar (লেখক), Gunnar Schotta (লেখক), Martin Irmler (লেখক), Johannes Beckers (লেখক), Christopher V.E. Wright (লেখক), Mostafa Bakhti (লেখক), Heiko Lickert (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Elsevier, 2019-06-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...