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Claudia Gragnoli
Researcher at Thomas Jefferson University
Publications - 77
Citations - 1509
Claudia Gragnoli is an academic researcher from Thomas Jefferson University. The author has contributed to research in topics: Type 2 diabetes & Linkage disequilibrium. The author has an hindex of 17, co-authored 60 publications receiving 1268 citations. Previous affiliations of Claudia Gragnoli include Harvard University & Thomas Jefferson University Hospital.
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What do we know about serotonin
TL;DR: The present review focuses on what is known of basic serotonin physiology in the human body and describes serotonin biochemistry and metabolism and summarize the results of studies that have contributed significantly to the understanding of serotonin physiology.
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Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene.
Claudia Gragnoli,Tom H. Lindner,B. N. Cockburn,Pamela J. Kaisaki,Fabio Gragnoli,Gino Marozzi,Graeme I. Bell +6 more
TL;DR: An Italian family is reported in which an A→C substitution at nucleotide -58 of the promoter region of the HNF-1α gene cosegregates with MODY, demonstrating that decreased levels of HNF -1α per se can cause MODY.
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AVPR2 Variants and Mutations in Nephrogenic Diabetes Insipidus : Review and Missense Mutation Significance
TL;DR: Almost 90% of nephrogenic diabetes insipidus (NDI) is due to mutations in the arginine‐vasopressin receptor 2 gene (AVPR2), and the AVPR2 mutations are spread world‐wide.
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Hepatic function in a family with a nonsense mutation (R154X) in the hepatocyte nuclear factor-4alpha/MODY1 gene.
Tom H. Lindner,Claudia Gragnoli,Hiroto Furuta,B. N. Cockburn,C. Petzold,Hannes Rietzsch,U Weiss,Jan Schulze,Graeme I. Bell +8 more
TL;DR: The identification of a second family with MODY1 and the first in which there has been a detailed characterization of hepatic function suggest that MODy1 is primarily a disorder of beta-cell function.
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Hypothesis of the neuroendocrine cortisol pathway gene role in the comorbidity of depression, type 2 diabetes, and metabolic syndrome
TL;DR: It is hypothesized that HPA axis hyperactivation may be due to variants in the genes of the CRH receptors (CRHR1, CRHR2), corticotropin receptors (or melanocortin receptors, MC1R-MC5R), glucocorticoid receptor (NR3C1), mineralocorto-releasing hormone ( NR3C2), and of the FK506 binding protein 51 (FKBP5), and that these variants may be partially