Point mutations in the PDX1 transactivation domain impair human β-cell development and function
收藏NIAID Data Ecosystem2026-03-11 收录
官方服务：
资源简介：
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
应用场景：
创建时间：
2019-06-19
相关数据集
Point mutations in the PDX1 transactivation domain impair human β-cell development and function (mRNA microarray). Point mutations in the PDX1 transactivation domain impair human β-cell development and function (mRNA microarray)
Missense mutations in coding region of PDX1 predispose to type-2 diabetes mellitus as well as cause MODY through largely unexplored mechanisms. Here, we screened a large cohort of subjects with increa
NIAID Data Ecosystem80
Point mutations in the PDX1 transactivation domain impair human β-cell development and function. Point mutations in the PDX1 transactivation domain impair human β-cell development and function
This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series
NIAID Data Ecosystem40
Single-cell RNA sequencing enables transcriptomic analysis of iPSC-derived beta-cells in a model of neonatal diabetes caused by insulin mutations.. Single-cell RNA sequencing enables transcriptomic analysis of iPSC-derived beta-cells in a model of neonatal diabetes caused by insulin mutations.
Insulin gene mutations are a leading cause of neonatal diabetes. They can lead to proinsulin misfolding and its retention in endoplasmic reticulum (ER). This results in increased ER-stress suggested t
NIAID Data Ecosystem20
PAX4 loss of function alters human endocrine cell development and influences diabetes risk [dateset 1]. PAX4 loss of function alters human endocrine cell development and influences diabetes risk [dateset 1]
Diabetes is a major chronic disease with an excessive healthcare burden on society. A coding variant (p.Arg192His) in the transcription factor PAX4 is uniquely and reproducibly associated with altered
NIAID Data Ecosystem40
ENTPD3 Marks Mature Stem Cell Derived Beta Cells Formed by Self-Aggregation in Vitro
Stem cell derived beta-like cells (sBC) carry the promise of providing an abundant source of insulin-producing cells for use in cell replacement therapy for patients with diabetes, potentially allowin
NIAID Data Ecosystem30
