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JCI Insight|June 10, 2024
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetesLaura Kind, Janne Molnes, Erling Tjora, et al.
American Journal of Medical Genetics. Part A|May 15, 2008
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644CJulia Rankin, Michaela Auer-Grumbach, Warwick Bagg, et al.
Human Molecular Genetics|July 13, 2014
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stabilityAnne Raimondo, Ali J Chakera, Soren K Thomsen, et al.
Diabetes Care|November 10, 2019
Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons From a 5-Year Pediatric Swedish National Cohort StudyAnnelie Carlsson, Maggie Shepherd, Sian Ellard, et al.
Diabetes|January 27, 2021
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum StressHossam Montaser, Kashyap A Patel, Diego Balboa, et al.
American Journal of Human Genetics|October 18, 2022
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohortsUyenlinh L Mirshahi, Kevin Colclough, Caroline F Wright, et al.
Medrxiv : the Preprint Server for Health Sciences|May 3, 2023
A Systematic Review of the use of Precision Diagnostics in Monogenic DiabetesRinki Murphy, Kevin Colclough, Toni I Pollin, et al.
Diabetes Care|June 9, 2016
Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic DiabetesMaggie Shepherd, Beverley Shields, Suzanne Hammersley, et al.
Communications Medicine|October 4, 2023
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinionRinki Murphy, Kevin Colclough, Toni I Pollin, et al.
Diabetes|May 5, 2009
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humansDaniela Gasperíková, Nicolas D Tribble, Juraj Staník, et al.
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