PDX1 is the cornerstone of pancreatic β-cell functions and identity

N Ebrahim, K Shakirova… - Frontiers in Molecular …, 2022 - frontiersin.org
Diabetes has been a worldwide healthcare problem for many years. Current methods of
treating diabetes are still largely directed at symptoms, aiming to control the manifestations …

Biophysical insights into glucose-dependent transcriptional regulation by PDX1

ET Usher, SA Showalter - Journal of Biological Chemistry, 2022 - ASBMB
The pancreatic and duodenal homeobox 1 (PDX1) is a central regulator of glucose-
dependent transcription of insulin in pancreatic β cells. PDX1 transcription factor activity is …

Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

TW Laver, MN Wakeling, O Knox, K Colclough… - Diabetes, 2022 - Am Diabetes Assoc
Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic
diabetes, reported to be caused by variants in 16 genes. Concern has been raised about …

First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications

S Yoshiji, Y Horikawa, S Kubota, M Enya… - Journal of the …, 2022 - academic.oup.com
Context The PDX1 gene encodes pancreatic and duodenal homeobox, a critical
transcription factor for pancreatic β-cell differentiation and maintenance of mature β-cells …

Monogenic forms of diabetes mellitus

Z Gaál, I Balogh - Genetics of Endocrine Diseases and Syndromes, 2019 - Springer
In addition to the common types of diabetes mellitus, two major monogenic diabetes forms
exist. Maturity-onset diabetes of the young (MODY) represents a heterogenous group of …

PDX1 ‐MODY and dorsal pancreatic agenesis: New phenotype of a rare disease

LA Caetano, LS Santana, AD Costa‐Riquetto… - Clinical …, 2018 - Wiley Online Library
Maturity‐Onset Diabetes of the Young (MODY) type 4 or PDX1‐MODY is a rare form of
monogenic diabetes caused by heterozygous variants in PDX1. Pancreatic developmental …

First case report of maturity-onset diabetes of the young type 4 pedigree in a Chinese family

M Deng, X Xiao, L Zhou, T Wang - Frontiers in Endocrinology, 2019 - frontiersin.org
Maturity-onset diabetes of the young (MODY) is the most common monogenetic diabetes,
which is easily misdiagnosed. We describe the first Chinese MODY4 family with a novel …

Precision diagnosis of maturity-onset diabetes of the young with next-generation sequencing: findings from the MODY-IST study in adult patients

HY Aydogan, N Gul, DK Demirci, U Mutlu… - OMICS: A Journal of …, 2022 - liebertpub.com
Maturity-onset diabetes of the young (MODY) is a highly heterogeneous group of monogenic
and nonautoimmune diseases. Misdiagnosis of MODY is a widespread problem and about …

Generation and Phenotype Identification of PAX4 Gene Knockout Rabbit by CRISPR/Cas9 System

Y Xu, Y Wang, Y Song, J Deng, M Chen… - G3: Genes …, 2018 - academic.oup.com
Paired-homeodomain transcription factor 4 (PAX4) gene encodes a transcription factor
which plays an important role in the generation, differentiation, development, and survival of …

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

TR Özdemir, Ö Kırbıyık, BN Dündar, A Abacı… - Journal of Pediatric …, 2018 - degruyter.com
Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic
diabetes. Fourteen genes have been identified, each leading to cause a different type of …