![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
Open AccessNon-invasive quantification of stem cell-derived islet graft size and composition
Stem cell-derived islets (SC-islets) are being used as cell replacement therapy for insulin-dependent diabetes. Non-invasive long-term monitoring methods for SC-islet grafts, which are needed to detect misguid...
-
Article
Open AccessRFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function
Regulatory factor X 6 (RFX6) is crucial for pancreatic endocrine development and differentiation. The RFX6 variant p.His293LeufsTer7 is significantly enriched in the Finnish population, with almost 1:250 individu...
-
Article
Open AccessPrimate-specific ZNF808 is essential for pancreatic development in humans
Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function...
-
Chapter
Modelling of Beta Cell Pathophysiology Using Stem Cell-Derived Islets
Diabetes mellitus is a family of metabolic disorders that arise from the loss or dysfunction of insulin secreting pancreatic beta cells. Many forms of early onset diabetes are caused by monogenic mutations in ...
-
Article
Open AccessThe type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α
Type 1 diabetes (T1D) is an autoimmune disease that results in the destruction of insulin producing pancreatic β-cells. One of the genes associated with T1D is TYK2, which encodes a Janus kinase with critical rol...
-
Article
Open AccessFunctional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells
Transplantation of pancreatic islet cells derived from human pluripotent stem cells is a promising treatment for diabetes. Despite progress in the generation of stem-cell-derived islets (SC-islets), no detaile...
-
Article
SUR1-mutant iPS cell-derived islets recapitulate the pathophysiology of congenital hyperinsulinism
Congenital hyperinsulinism caused by mutations in the KATP-channel-encoding genes (KATPHI) is a potentially life-threatening disorder of the pancreatic beta cells. No optimal medical treatment is available for pa...