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 …
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
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 …