نتایج جستجو برای: slc30a8

تعداد نتایج: 228  

2016
Christina Chambers Alexandra Fouts Fran Dong Kevin Colclough Zhenyuan Wang Sat Dev Batish Malgorzata Jaremko Sian Ellard Andrew T Hattersley Georgeanna Klingensmith Andrea K Steck

Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes caused by a mutation in a single gene, often not requiring insulin. The aim of this study was to estimate the frequency and clinical characteristics of MODY at the Barbara Davis Center. A total of 97 subjects with diabetes onset before age 25, a random C-peptide ≥0.1 ng/mL, and negative for all diabetes autoantibodies (...

2016
Lue Ping Zhao Shehab Alshiekh Michael Zhao Annelie Carlsson Helena Elding Larsson Gun Forsander Sten A. Ivarsson Johnny Ludvigsson Ingrid Kockum Claude Marcus Martina Persson Ulf Samuelsson Eva Örtqvist Chul-Woo Pyo Wyatt C. Nelson Daniel E. Geraghty Åke Lernmark

The possible contribution of HLA-DRB3, -DRB4, and -DRB5 alleles to type 1 diabetes risk and to insulin autoantibody (IAA), GAD65 (GAD autoantibody [GADA]), IA-2 antigen (IA-2A), or ZnT8 against either of the three amino acid variants R, W, or Q at position 325 (ZnT8RA, ZnT8WA, and ZnT8QA, respectively) at clinical diagnosis is unclear. Next-generation sequencing (NGS) was used to determine all ...

2017
Natalia I. Faccinetti Luciano L. Guerra Adriana V. Sabljic Silvina S. Bombicino Bruno D. Rovitto Ruben F. Iacono Edgardo Poskus Aldana Trabucchi Silvina N. Valdez

BACKGROUND In the present work we described the recombinant production and characterization of heterodimeric construction ZnT8-Arg-Trp325 fused to thioredoxin using a high-performance expression system such as Escherichia coli. In addition, we apply this novel recombinant antigen in a non-radiometric method, with high sensitivity, low operational complexity and lower costs. RESULTS ZnT8 was e...

2012
Peter D. Burbelo Evan E. Lebovitz Kathleen E. Bren Ahmad Bayat Scott Paviol Janet M. Wenzlau Katherine J. Barriga Marian Rewers David M. Harlan Michael J. Iadarola

Type I diabetes (T1D) is an autoimmune disease characterized by destruction of insulin-producing β-cells in the pancreas. Although several islet cell autoantigens are known, the breadth and spectrum of autoantibody targets has not been fully explored. Here the luciferase immunoprecipitation systems (LIPS) antibody profiling technology was used to study islet and other organ-specific autoantibod...

2017
Fatou K. Ndiaye Ana Ortalli Mickaël Canouil Marlène Huyvaert Clara Salazar-Cardozo Cécile Lecoeur Marie Verbanck Valérie Pawlowski Raphaël Boutry Emmanuelle Durand Iandry Rabearivelo Olivier Sand Lorella Marselli Julie Kerr-Conte Vikash Chandra Raphaël Scharfmann Odile Poulain-Godefroy Piero Marchetti François Pattou Amar Abderrahmani Philippe Froguel Amélie Bonnefond

OBJECTIVES Genome-wide association studies (GWAS) have identified >100 loci independently contributing to type 2 diabetes (T2D) risk. However, translational implications for precision medicine and for the development of novel treatments have been disappointing, due to poor knowledge of how these loci impact T2D pathophysiology. Here, we aimed to measure the expression of genes located nearby T2...

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