Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

IA Khan - Heliyon, 2021 - cell.com
Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in
infants. NDM occurs due to a single-gene mutation in neonates. A common source for …

Human stem cell models: lessons for pancreatic development and disease

B Gaertner, AC Carrano, M Sander - Genes & Development, 2019 - genesdev.cshlp.org
A comprehensive understanding of mechanisms that underlie the development and function
of human cells requires human cell models. For the pancreatic lineage, protocols have been …

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

KA Patel, J Kettunen, M Laakso, A Stančáková… - Nature …, 2017 - nature.com
Finding new causes of monogenic diabetes helps understand glycaemic regulation in
humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we …

Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells while repressing genetic programs controlling serotonin production

J Piccand, C Vagne, F Blot, A Meunier, A Beucher… - Molecular …, 2019 - Elsevier
Abstract Objective Enteroendocrine cells (EECs) of the gastro-intestinal tract sense gut
luminal factors and release peptide hormones or serotonin (5-HT) to coordinate energy …

A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

E De Franco, RA Watson, WJ Weninger… - The American Journal of …, 2019 - cell.com
We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284. 4; c.
1603C> T (p. Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal …

Human RFX6 regulates endoderm patterning at the primitive gut tube stage

T Nakamura, J Fujikura, R Ito, Y Keidai, N Inagaki - PNAS nexus, 2024 - academic.oup.com
Transcriptional factor RFX6 is known to be a causal gene of Mitchell–Riley syndrome (MRS),
an autosomal recessive neonatal diabetes associated with pancreatic hypoplasia and …

Monogenic Diabetes Modeling: In Vitro Pancreatic Differentiation From Human Pluripotent Stem Cells Gains Momentum

JI Burgos, L Vallier, SA Rodríguez-Seguí - Frontiers in Endocrinology, 2021 - frontiersin.org
The occurrence of diabetes mellitus is characterized by pancreatic β cell loss and chronic
hyperglycemia. While Type 1 and Type 2 diabetes are the most common types, rarer forms …

Annular pancreas in China: 9 years' experience from a single center

DL Wang, Q Kang, SJ Shi, W Hu - Pediatric Surgery International, 2018 - Springer
To summarize the clinical characteristics, diagnosis, treatment and prognosis among 152
children with annular pancreas (AP). A retrospective review of 152 patients with AP who …

Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell–Riley syndrome with heterotopic gastric mucosa and …

V Calcaterra, L Chiricosta, E Mazzon… - Orphanet Journal of …, 2021 - Springer
Background Homozygous mutations in the transcription factor RFX6 are the cause of the
Mitchell–Riley syndrome (MRS) associating neonatal diabetes, congenital digestive system …

Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management

N Kheriji, H Dallali, I Gouiza, M Hechmi… - Frontiers in …, 2023 - frontiersin.org
Introduction: Monogenic diabetes (MD) accounts for 3%–6% of all cases of diabetes. This
prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 …