The HNF1α p291fsinsC truncation is the most common mutation associated with maturity-
onset diabetes of the young 3 (MODY3). Although shown to impair HNF1α signaling, the …

Heterozygous HNF1A gene mutations can cause maturity onset diabetes of the young 3
(MODY3), characterized by insulin secretion defects. However, specific mechanisms of …

Maturity-onset diabetes of the young 1 (MODY1) is a monogenic diabetes condition caused
by heterozygous HNF4A mutations. We investigate how HNF4A haploinsufficiency from a …

Mutations in HNF1A cause Maturity Onset Diabetes of the Young type 3 (MODY3), the most
prevalent form of monogenic diabetes. We generated stem cell-derived pancreatic …

Heterozygous mutations in HNF1B in humans result in a multisystem disorder, including
pancreatic hypoplasia and diabetes mellitus. Here we used a well-controlled human …

Patients with an HNF1B S148L/+ mutation (MODY5) typically exhibit pancreatic hypoplasia.
However, the molecular mechanisms are unknown due to inaccessibility of patient material …

Maturity onset diabetes of the young (MODY) is a hereditary form of diabetes mellitus
presenting at childhood or adolescence, which eventually leads to pancreatic β-cells …

MODY1 is a maturity-onset monogenic diabetes, caused by heterozygous mutations of the
HNF4A gene. To date the cellular and molecular mechanisms leading to disease onset …

Heterozygous mutations in the human HNF1B gene are associated with maturity-onset
diabetes of the young type 5 (MODY5) and pancreas hypoplasia. In mouse, Hnf1b …

Abstract HNF4A and HNF1A encode transcription factors that are important for the
development and function of the pancreas and liver. Mutations in both genes have been …