Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00592-022-01889-wDOI Listing

Publication Analysis

Top Keywords

contribution onecut1
4
onecut1 variants
4
variants forms
4
forms non-autoimmune
4
non-autoimmune diabetes
4
diabetes mellitus
4
mellitus italian
4
italian patients
4
contribution
1
variants
1

Similar Publications

Background: Moderate-to-severe fatigue commonly occurs in patients with cancer. Given the numerous roles that epigenetic processes may play in the development and severity of fatigue, the purposes of this study were to (1) use a data-driven discovery approach to evaluate for mechanisms underlying morning fatigue in a group of oncology patients receiving chemotherapy and (2) identify common biological mechanisms associated with morning fatigue severity across these independent epigenetic evaluations.

Methods: Patients completed questionnaires during the week prior to their chemotherapy treatment.

View Article and Find Full Text PDF

Background And Aims: Hepatoblastoma (HB) is the predominant primary malignant liver tumor in childhood. Concomitant Yes-associated protein (YAP) and β-Catenin activation occurs in most HB. However, the signaling pathways distinctively regulated by YAP and β-Catenin protooncogenes in HB remain unexplored.

View Article and Find Full Text PDF

A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.

Cell Rep

November 2024

Institute of Molecular Oncology and Stem Cell Biology, Ulm University Hospital, Ulm, Germany. Electronic address:

In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Through genetic, genomic, and functional studies, we identified a crucial regulatory region acting as an enhancer of ONECUT1 specifically during pancreatic development. This enhancer region contains a low-frequency variant showing a strong association with type 2 diabetes and other glycemic traits, thus extending the contribution of this region to common forms of diabetes.

View Article and Find Full Text PDF

Genes involved in distinct diabetes types suggest shared disease mechanisms. Here we show that One Cut Homeobox 1 (ONECUT1) mutations cause monogenic recessive syndromic diabetes in two unrelated patients, characterized by intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes in heterozygous relatives. Heterozygous carriers of rare coding variants of ONECUT1 define a distinctive subgroup of diabetic patients with early-onset, nonautoimmune diabetes, who respond well to diabetes treatment.

View Article and Find Full Text PDF