Recent Publications

Data from the Monogenic Diabetes Registry leads to many published papers. Here are a few of our most recent publications:


2020

Harnessing heterogeneity in type 2 diabetes mellitus.
Philipson LH.
https://pubmed.ncbi.nlm.nih.gov/31831872

Update of variants identified in the pancreatic beta-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux J, Ronholt Larsen A, Sanyoura M, Greeley SAW, Calzada-Leon R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Thybo Christesen H, Bellanne-Chantelot C, Flanagan SE.
https://pubmed.ncbi.nlm.nih.gov/32027066/

2019

Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR, Greeley SAW.
https://pubmed.ncbi.nlm.nih.gov/31250216

The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.
GoodSmith MS, Skandari MR, Huang ES, Naylor RN.
https://pubmed.ncbi.nlm.nih.gov/31558549

Economics of Genetic Testing for Diabetes.
Naylor R.
https://www.ncbi.nlm.nih.gov/pubmed/30919097

Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.
Dickens LT, Letourneau LR, Sanyoura M, Greeley SAW, Philipson LH, Naylor RN.
https://www.ncbi.nlm.nih.gov/pubmed/30535721

Uncommon Presentations of Diabetes: Zebras in the Herd
Shidler KL, Letourneau LR, Novak LM.
https://pubmed.ncbi.nlm.nih.gov/31975755

Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Daibetes as Revelaed by Comparison With GCK-MODY (MODY2).
Gregory JM, Smith TJ, Slaughter JC, Mason HR, Hughey CC, Smith MS, Kandasamy B, Greeley SAW, Philipson LH, Naylor RN, Letourneau LR, Abumrad NN, Cherrington AD, Moore DJ.
https://www.ncbi.nlm.nih.gov/pubmed/31092478

Pediatric Monogenic Diabetes: A Unique Challenge and Opportunity.
Harris A, Naylor RN.
https://pubmed.ncbi.nlm.nih.gov/31426100

GCK-MODY in the US Monogenic Diabetes Registry: Decsription of 27 unpublished variants.
Sanyoura M, Letourneau L, Knight Johnson AE, Del Gaudio D, Greeley SAW, Philipson LH, Naylor RN.
https://www.ncbi.nlm.nih.gov/pubmed/31063852

Precision Medicine: Long -Term Treatment with Sulfonylureas in Pateints with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/31250216

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM; International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, PAtel KA, Hattersley AT.
https://www.ncbi.nlm.nih.gov/pubmed/30962220

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.
Haliyur R, Tong X, Sanyoura M, Shrestha S, Lindner J, Saunders DC, Aramandla R, Poffenberger G, Redick SD, Bottino R, Prasad N, Levy SE, Blind RD, Harlan DM, Philipson LH, Stein RW, Brissova M, Powers AC.
https://www.ncbi.nlm.nih.gov/pubmed/30507613

Updates in Gestational Diabetes Prevalence, Treatment, and Health Policy.
Dickens LT, Thomas CC.
https://www.ncbi.nlm.nih.gov/pubmed/31073850

2018

Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options.
Sanyoura M, Philipson LH, Naylor R.
https://www.ncbi.nlm.nih.gov/pubmed/29931562

Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29896650

Precision medicine in KCNJ11 permanent neonatal diabetes.
Greeley SAW, Letourneau LR, Philipson LH.
https://www.ncbi.nlm.nih.gov/pubmed/29880307

Monogenic diabetes: the impact of making the right diagnosis.

Harris AG, Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29846255

Maturity-Onset Diabetes of the Young Overview.
Naylor R, Knight Johnson A, del Gaudio D.
https://www.ncbi.nlm.nih.gov/pubmed/29792621

Congenital forms of diabetes: the beta-cell and beyond.
Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29454299

Clinical Management of Women with Monogenic Diabetes During Pregnancy.
Dickens LT, Naylor RN.
https://www.ncbi.nlm.nih.gov/pubmed/29450745

Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29406006

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/28938416

2017

Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.
Greeley SA, Zielinski MC, Poudel A, Ye H, Berry S, Taxy JB, Carmody D, Steiner DF, Philipson LH, Wood JR, Hara M.
https://www.ncbi.nlm.nih.gov/pubmed/27802092

Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.
Letourneau LR, Carmody D, Wroblewski K, Denson AM, Sanyoura M, Naylor RN, Philipson LH, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/28779000

Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.
Letourneau LR, Carmody D, Philipson LH, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29308449

Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
Lanning MS, Carmody D, Szczerbiński Ł, Letourneau LR, Naylor RN, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29205704

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/28938416

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium.
https://www.ncbi.nlm.nih.gov/pubmed/29193502

2016

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.
Carmody D, Ladsaria SS, Buikema RK, Semple RK, Greeley SA.
https://www.ncbi.nlm.nih.gov/pubmed/26262567

Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
Carmody D, Pastore AN, Landmeier KA, Letourneau LR, Martin R, Hwang JL, Naylor RN, Hunter SJ, Msall ME, Philipson LH, Scott MN, Greeley SA.
https://www.ncbi.nlm.nih.gov/pubmed/27223594

ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
Landmeier KA, Lanning M, Carmody D, Greeley SAW, Msall ME.
https://www.ncbi.nlm.nih.gov/pubmed/27555491

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
Carmody D, Naylor RN, Bell CD, Berry S, Montgomery JT, Tadie EC, Hwang JL, Greeley SA, Philipson LH.
https://www.ncbi.nlm.nih.gov/pubmed/27106716