Publications

Featured publications

Atypical Diabetes: What Have We Learned and What Does the Future Hold?

February 8, 2024

Stone SI, Balasubramanyam A, Posey JE. Atypical Diabetes: What Have We Learned and What Does the Future Hold? Diabetes Care. 2024 Feb 8:dci230038. doi: 10.2337/dci23-0038. Epub ahead of print. PMID: 38329838.

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 Reports, 2022, 21-0118.

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.

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.

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.

Recent publications

• Atypical Diabetes: What Have We Learned and What Does the Future Hold?
  Atypical Diabetes: What Have We Learned and What Does the Future Hold?Stone, S. I., Balasubramanyam, A. & Posey, J. E., May 2024, In: Diabetes care. 47, 5, p. 770-781 12 p.Research output: Contribution to journal › Review article › peer-review
• Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitis
  Preclinical mouse model of a misfolded PNLIP variant develops chronic pancreatitisZhu, G., Wilhelm, S. J., George, L. G., Cassidy, B. M., Zino, S., Luke, C. J., Hanna, M., Stone, S., Phan, N., Matiwala, N., Ballentine, S. J., Lowe, M. & Xiao, X., Jul 1 2023, In: Gut. 72, 7, p. 1340-1354 15 p.Research output: Contribution to journal › Article › peer-review
• Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)
  Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY)Verma, M. & Stone, S. I., Jan 1 2022, In: Endocrinology, Diabetes and Metabolism Case Reports. 2022, 1, 21-0118.Research output: Contribution to journal › Article › peer-review
• A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome
  A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndromeAbreu, D., Stone, S. I., Pearson, T. S., Bucelli, R. C., Simpson, A. N., Hurst, S., Brown, C. M., Kries, K., Onwumere, C., Gu, H., Hoekel, J., Tychsen, L., van Stavern, G. P., White, N. H., Marshall, B. A., Hershey, T. & Urano, F., Aug 9 2021, In: JCI Insight. 6, 15, e145188.Research output: Contribution to journal › Article › peer-review
• Monogenic and syndromic diabetes due to endoplasmic reticulum stress
  Monogenic and syndromic diabetes due to endoplasmic reticulum stressStone, S. I., Abreu, D., McGill, J. B. & Urano, F., Jan 2021, In: Journal of Diabetes and Its Complications. 35, 1, 107618.Research output: Contribution to journal › Article › peer-review
• Digenic variants in the FGF21 signaling pathway associated with severe insulin resistance and pseudoacromegaly
  Digenic variants in the FGF21 signaling pathway associated with severe insulin resistance and pseudoacromegalyStone, S. I., Wegner, D. J., Wambach, J. A., Cole, F. S., Urano, F. & Ornitz, D. M., Dec 1 2020, In: Journal of the Endocrine Society. 4, 12, p. 1-14 14 p.Research output: Contribution to journal › Article › peer-review
• Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells
  Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cellsStone, S., Abreu, D., Mahadevan, J., Asada, R., Kries, K., Graf, R., Marshall, B. A., Hershey, T. & Urano, F., Dec 1 2019, In: Scientific reports. 9, 1, 5199.Research output: Contribution to journal › Article › peer-review
• Propagation of the [PIN⁺] prion by fragments of Rnq1 fused to GFP
  Propagation of the [PIN+] prion by fragments of Rnq1 fused to GFPVitrenko, Y. A., Pavon, M. E., Stone, S. I. & Liebman, S. W., May 2007, In: Current Genetics. 51, 5, p. 309-319 11 p.Research output: Contribution to journal › Article › peer-review