Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)

April 15, 2022

Verma, M., & Stone, S. I. (2022). Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)Endocrinology, Diabetes & Metabolism Case Reports2022, 21-0118.


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Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly

September 22, 2020

Stone SI, Wegner DJ, Wambach JA, Cole FS, Urano F, Ornitz DM. Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly. J Endocr Soc. 2020 Dec 1; 4(12):bvaa138. doi: 10.1210/jendso/bvaa138. eCollection 2020 Dec 1. PubMed PMID: 33210059; PubMed Central PMCID: PMC7653638.


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Monogenic and syndromic diabetes due to endoplasmic reticulum stress

May 8, 2020

Stone SI, Abreu D, McGill JB, Urano F. Monogenic and syndromic diabetes due to endoplasmic reticulum stress. J Diabetes Complications. 2020 May 8;:107618. doi: 10.1016/j.jdiacomp.2020.107618. [Epub ahead of print] PubMed PMID: 32518033; PubMed Central PMCID: PMC7648725.


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Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells

March 26, 2019

Stone S, Abreu D, Mahadevan J, Asada R, Kries K, Graf R, Marshall BA, Hershey T, Urano F. Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells. Sci Rep. 2019 Mar 26;9(1):5199. doi: 10.1038/s41598-019-41604-4. PubMed PMID: 30914711; PubMed Central PMCID: PMC6435683.


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