Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Congenital hypothyroidism: insights into pathogenesis and treatment

CE Cherella, AJ Wassner - International journal of pediatric endocrinology, 2017 - Springer
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have
devastating neurodevelopmental consequences if not detected and treated promptly. While …

GLIS1–3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases

AM Jetten - Cellular and molecular life sciences, 2018 - Springer
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They
function as key regulators of embryonic development and a wide range of other …

Transcription factor GLIS3: Critical roles in thyroid hormone biosynthesis, hypothyroidism, pancreatic beta cells and diabetes

DW Scoville, HS Kang, AM Jetten - Pharmacology & therapeutics, 2020 - Elsevier
ABSTRACT GLI-Similar 3 (GLIS3) is a member of the GLIS subfamily of Krüppel-like zinc
finger transcription factors that functions as an activator or repressor of gene expression …

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

PE Schneeberger, F Kortüm, GC Korenke, M Alawi… - Brain, 2020 - academic.oup.com
In pleiotropic diseases, multiple organ systems are affected causing a variety of clinical
manifestations. Here, we report a pleiotropic disorder with a unique constellation of …

[HTML][HTML] GLIS1-3: emerging roles in reprogramming, stem and progenitor cell differentiation and maintenance

DW Scoville, HS Kang, AM Jetten - Stem cell investigation, 2017 - ncbi.nlm.nih.gov
Recent studies have provided evidence for a regulatory role of GLI-similar (GLIS)
transcription factors in reprogramming, maintenance and differentiation of several stem and …

GLIS3: a critical transcription factor in islet β-cell generation

DW Scoville, AM Jetten - Cells, 2021 - mdpi.com
Understanding of pancreatic islet biology has greatly increased over the past few decades
based in part on an increased understanding of the transcription factors that guide this …

Genetic syndromes with diabetes: a systematic review

D Shi, M Motamed, A Mejía‐Benítez, L Li, E Lin… - Obesity …, 2021 - Wiley Online Library
Previous reviews and clinical guidelines have identified 10–20 genetic syndromes
associated with diabetes, but no systematic review has been conducted to date. We provide …

Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism

C Fu, S Luo, X Long, Y Li, S She, X Hu, M Mo… - Clinica Chimica …, 2018 - Elsevier
Objectives Defects in the human GLI-similar 3 (GLIS3) gene are reported to be a rare cause
of congenital hypothyroidism (CH) and neonatal diabetes. The aim of this study was to …

The effects of common genetic variation in 96 genes involved in thyroid hormone regulation on TSH and FT4 concentrations

RBTM Sterenborg, TE Galesloot… - The Journal of …, 2022 - academic.oup.com
Objective While most of the variation in thyroid function is determined by genetic factors,
single nucleotide polymorphisms (SNPs) identified via genome-wide association analyses …