Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

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 …

Human pancreas development

RE Jennings, AA Berry, JP Strutt, DT Gerrard… - …, 2015 - journals.biologists.com
A wealth of data and comprehensive reviews exist on pancreas development in mammals,
primarily mice, and other vertebrates. By contrast, human pancreatic development has been …

[HTML][HTML] The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

E De Franco, SE Flanagan, JAL Houghton, HL Allen… - The Lancet, 2015 - thelancet.com
Background Traditional genetic testing focusses on analysis of one or a few genes
according to clinical features; this approach is changing as improved sequencing methods …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

GATA transcription factors in development and disease

M Tremblay, O Sanchez-Ferras, M Bouchard - Development, 2018 - journals.biologists.com
The GATA family of transcription factors is of crucial importance during embryonic
development, playing complex and widespread roles in cell fate decisions and tissue …

The emerging role of GATA transcription factors in development and disease

MHFM Lentjes, HEC Niessen, Y Akiyama… - Expert reviews in …, 2016 - cambridge.org
The GATA family of transcription factors consists of six proteins (GATA1-6) which are
involved in a variety of physiological and pathological processes. GATA1/2/3 are required …

FOXA2 is required for enhancer priming during pancreatic differentiation

K Lee, H Cho, RW Rickert, QV Li, J Pulecio, CS Leslie… - Cell reports, 2019 - cell.com
Transcriptional regulatory mechanisms of lineage priming in embryonic development are
largely uncharacterized because of the difficulty of isolating transient progenitor populations …

Cellular and molecular mechanisms coordinating pancreas development

A Bastidas-Ponce, K Scheibner, H Lickert… - …, 2017 - journals.biologists.com
The pancreas is an endoderm-derived glandular organ that participates in the regulation of
systemic glucose metabolism and food digestion through the function of its endocrine and …

Genome editing in hPSCs reveals GATA6 haploinsufficiency and a genetic interaction with GATA4 in human pancreatic development

ZD Shi, K Lee, D Yang, S Amin, N Verma, QV Li, Z Zhu… - Cell stem cell, 2017 - cell.com
Human disease phenotypes associated with haploinsufficient gene requirements are often
not recapitulated well in animal models. Here, we have investigated the association …