Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes

E De Franco, C Saint‐Martin, K Brusgaard… - Human …, 2020 - Wiley Online Library
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic
variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP …

[HTML][HTML] Ionizing radiation biomarkers for potential use in epidemiological studies

E Pernot, J Hall, S Baatout, MA Benotmane… - … Research/Reviews in …, 2012 - Elsevier
Ionizing radiation is a known human carcinogen that can induce a variety of biological
effects depending on the physical nature, duration, doses and dose-rates of exposure …

Guidelines and recommendations for laboratory analysis in the diagnosis and management of diabetes mellitus

DB Sacks, M Arnold, GL Bakris, DE Bruns… - Clinical …, 2011 - academic.oup.com
BACKGROUND Multiple laboratory tests are used to diagnose and manage patients with
diabetes mellitus. The quality of the scientific evidence supporting the use of these tests …

Guidelines and recommendations for laboratory analysis in the diagnosis and management of diabetes mellitus

DB Sacks, DE Bruns, DE Goldstein… - Clinical …, 2002 - academic.oup.com
Background: Multiple laboratory tests are used in the diagnosis and management of patients
with diabetes mellitus. The quality of the scientific evidence supporting the use of these …

Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

A Bonnefond, J Philippe, E Durand, A Dechaume… - PloS one, 2012 - journals.plos.org
Background Maturity-onset of the young (MODY) is a clinically heterogeneous form of
diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the …

Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum

MC Riddle, LH Philipson, SS Rich, A Carlsson… - Diabetes …, 2020 - Am Diabetes Assoc
Individualization of therapy based on a person's specific type of diabetes is one key element
of a “precision medicine” approach to diabetes care. However, applying such an approach …

Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options

O Rubio-Cabezas, S Ellard - Hormone Research in Paediatrics, 2013 - karger.com
Over the last decade, we have witnessed major advances in the understanding of the
molecular basis of neonatal and infancy-onset diabetes. It is now widely accepted that …

Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment

SAW Greeley, RN Naylor, LH Philipson, GI Bell - Current diabetes reports, 2011 - Springer
There has been major progress in recent years uncovering the genetic causes of diabetes
presenting in the first year of life. Twenty genes have been identified to date. The most …

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

G Alkorta-Aranburu, D Carmody, YW Cheng… - Molecular genetics and …, 2014 - Elsevier
Single gene mutations that primarily affect pancreatic β-cell function account for
approximately 1–2% of all cases of diabetes. Overlapping clinical features with common …

Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport

M Liu, L Haataja, J Wright, NP Wickramasinghe… - PloS one, 2010 - journals.plos.org
Recently, a syndrome of M utant I NS-gene-induced D iabetes of Y outh (MIDY, derived from
one of 26 distinct mutations) has been identified as a cause of insulin-deficient diabetes …