A5073002116- Pancreatic function and diabetes
- Diabetes and associated disorders
- Diabetes Management and Research
- Diabetes Treatment and Management
- Ion channel regulation and function
- Metabolism, Diabetes, and Cancer
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genetics and Neurodevelopmental Disorders
- Cardiac electrophysiology and arrhythmias
- Cannabis and Cannabinoid Research
- Endoplasmic Reticulum Stress and Disease
- Diet, Metabolism, and Disease
- Adipose Tissue and Metabolism
- Receptor Mechanisms and Signaling
- Diet and metabolism studies
- Calcium signaling and nucleotide metabolism
- Cellular transport and secretion
- Ion Transport and Channel Regulation
- Gestational Diabetes Research and Management
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Erythrocyte Function and Pathophysiology
- Ion Channels and Receptors
- Nicotinic Acetylcholine Receptors Study
- Bariatric Surgery and Outcomes
University of Chicago
2016-2025
Universidad de Especialidades Espíritu Santo
2024
Adult and Pediatric Dermatology
2023
Riverside Transplantation Institute
2021
Shaker Heights Public Library
2020
Benaroya Research Institute
2018
Phillips Exeter Academy
2018
Diabetes Australia
2015
University of Chicago Medical Center
1998-2013
University of Illinois Chicago
2006-2012
We report 10 heterozygous mutations in the human insulin gene 16 probands with neonatal diabetes. A combination of linkage and a candidate approach family four diabetic members led to identification initial INS mutation. The are inherited an autosomal dominant manner this two other small families whereas 13 patients de novo. Diabetes presented at median age 9 weeks, usually ketoacidosis or marked hyperglycemia, was not associated beta cell autoantibodies, treated from diagnosis insulin....
OBJECTIVE— Insulin gene (INS) mutations have recently been described as a cause of permanent neonatal diabetes (PND). We aimed to determine the prevalence, genetics, and clinical phenotype INS in large cohorts patients with diagnosed infancy, childhood, or adulthood. RESEARCH DESIGN AND METHODS— The was sequenced 285 before 2 years age, 296 probands maturity-onset young (MODY), 463 young-onset type (nonobese, <45 years). None had molecular genetic diagnosis monogenic diabetes....
We quantitatively analyzed particle tracking data on insulin granules expressing fluorescent fusion proteins in MIN6 cells to better understand the motions contributing intracellular transport and, more generally, means for characterizing systems far from equilibrium. Care was taken ensure that statistics reflected intrinsic features of individual rather than details measurement and overall cell state. find anomalous diffusion. Interpreting such conventionally requires assuming a process is...
Our website uses cookies to enhance your experience. By continuing use our site, or clicking "Continue," you are agreeing Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications Network Open Cardiology Dermatology Health Forum Internal Medicine Neurology Oncology Ophthalmology Otolaryngology–Head & Neck Surgery Pediatrics Psychiatry Archives of (1919-1959) JN Learning /...
OBJECTIVE Conditional gene targeting has been extensively used for in vivo analysis of function β-cell biology. The objective this study was to examine whether mouse transgenic Cre lines, mediate β-cell– or pancreas-specific recombination, also drive expression the brain. RESEARCH DESIGN AND METHODS Transgenic lines driven by Ins1, Ins2, and Pdx1 promoters were bred R26R reporter strains. activity assessed β-galactosidase yellow fluorescent protein pancreas Endogenous monitored using...
<h3>Importance</h3> Continuous glucose monitoring (CGM) provides real-time assessment of levels and may be beneficial in reducing hypoglycemia older adults with type 1 diabetes. <h3>Objective</h3> To determine whether CGM is effective compared standard blood (BGM) <h3>Design, Setting, Participants</h3> Randomized clinical trial conducted at 22 endocrinology practices the United States among 203 least 60 years age <h3>Interventions</h3> Participants were randomly assigned a 1:1 ratio to use...
Many patients with type 1 diabetes (T1D) have residual β cells producing small amounts of C-peptide long after disease onset but develop an inadequate glucagon response to hypoglycemia following T1D diagnosis. The features these and α in the islet endocrine compartment are largely unknown, due difficulty comprehensive investigation. By studying pancreas isolated islets, we show that remnant appeared maintain several aspects regulated insulin secretion. However, function was markedly reduced,...
W e have cloned overlapping cDNAs encoding alE Ca2+channel subunits from mouse and human brain.W observed that these transcripts were widely distributed in the central nervous system.W also demonstrated existence of two variants a,, subunit.Comparison sequence al, to those other species suggests at least four alternatively spliced exist.Expression HEK293 cells Xenopus oocytes produced high voltage-activated Ca2+ currents inactivated rapidly (T "20 ms 0 mv).The size obtained enhanced -40-fold...
Microelectrodes enable localized electrical stimulation and recording, they have revolutionized our understanding of the spatiotemporal dynamics systems that generate or respond to signals. However, such comprehensive rely on molecular signals—e.g., chemical communication in multicellular neural, developmental, immune systems—remains elusive because inability deliver, capture, interpret complex information. To overcome this challenge, we developed “chemistrode,” a plug-based microfluidic...
The cloned Kv1.5 K+ channel displays similar kinetics and pharmacology to a delayed rectifier found in atrial myocytes. To determine whether the isoform plays role cardiac action potential, it is necessary confirm expression of this Using antibodies directed against two distinct epitopes, was localized human atrium ventricle. highly at intercalated disk regions as determined by colocalization with connexin N-cadherin specific antibodies. While both antichannel protein myocytes, only...
A convenient method for chemically treating zebrafish is to introduce the reagent into tank water, where it will be taken up by fish. However, this makes difficult know how much absorbed or per Some experimental questions, particularly those related metabolic studies, may better addressed delivering a defined quantity each fish, based on weight. Here we present intraperitoneal (IP) injection adult zebrafish. Injection abdominal cavity, posterior pelvic girdle. This procedure adapted from...
Mutations in the insulin (INS) gene can cause neonatal diabetes. We hypothesized that mutations INS could also maturity-onset diabetes of young (MODY) and autoantibody-negative type 1 diabetes.We screened 62 probands with MODY, 30 suspected 223 subjects from Norwegian Childhood Diabetes Registry selected on basis autoantibody negativity or family history diabetes.Among MODY patients, we identified mutation c.137G>A (R46Q) a proband, his diabetic father, paternal aunt. They were diagnosed at...
The adult zebrafish has the potential to become an important model for diabetes-related research. To realize this potential, small-scale methods analyzing pancreas function are required. measurement of blood glucose level is a commonly used method assessing β-cell function, but small size presents challenges both collecting samples and measuring glucose. We have developed microsamples whole plasma hematocrit demonstrate that two hand-held meters designed use by human diabetics return valid...
OBJECTIVE A pilot study suggested that combination therapy with low-dose anti-thymocyte globulin (ATG) and pegylated granulocyte colony-stimulating factor (GCSF) preserves C-peptide in established type 1 diabetes (T1D) (duration 4 months to 2 years). We hypothesized 1) ATG/GCSF or 2) ATG alone would slow the decline of β-cell function patients new-onset T1D &lt;100 days). RESEARCH DESIGN AND METHODS three-arm, randomized, double-masked, placebo-controlled trial was performed by Type...
OBJECTIVE We tested the ability of a type 1 diabetes (T1D) genetic risk score (GRS) to predict progression islet autoimmunity and T1D in at-risk individuals. RESEARCH DESIGN AND METHODS studied 1,244 TrialNet Pathway Prevention study participants (T1D patients’ relatives without with one or more positive autoantibodies) who were genotyped Illumina ImmunoChip (median [range] age at initial autoantibody determination 11.1 years [1.2–51.8], 48% male, 80.5% non-Hispanic white, median follow-up...