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Life Sciences Commons

Open Access. Powered by Scholars. Published by Universities.®

Medicine and Health Sciences

Touro College and University System

Series

Genome

Publication Year

Articles 1 - 2 of 2

Full-Text Articles in Life Sciences

Detecting, Quantifying, And Discriminating The Mechanism Of Mosaic Chromosomal Aneuploidies Using Mad-Seq, Yu Kong, Esther R. Berko, Anthony Marcketta, Shahina B. Maqbool, Claudia A. Simoes-Pires, David F. Kronn, John M. Greally Jul 2018

Detecting, Quantifying, And Discriminating The Mechanism Of Mosaic Chromosomal Aneuploidies Using Mad-Seq, Yu Kong, Esther R. Berko, Anthony Marcketta, Shahina B. Maqbool, Claudia A. Simoes-Pires, David F. Kronn, John M. Greally

NYMC Faculty Publications

Current approaches to detect and characterize mosaic chromosomal aneuploidy are limited by sensitivity, efficiency, cost, or the need to culture cells. We describe the mosaic aneuploidy detection by massively parallel sequencing (MAD-seq) capture assay and the MADSEQ analytical approach that allow low (


Whole Genome Expression Profiling Associates Activation Of Unfolded Protein Response With Impaired Production And Release Of Epinephrine After Recurrent Hypoglycemia, J Kim, Edmund La Gamma, T Estabrook, N Kudrick, Bistra Nankova Feb 2017

Whole Genome Expression Profiling Associates Activation Of Unfolded Protein Response With Impaired Production And Release Of Epinephrine After Recurrent Hypoglycemia, J Kim, Edmund La Gamma, T Estabrook, N Kudrick, Bistra Nankova

NYMC Faculty Publications

Recurrent hypoglycemia can occur as a major complication of insulin replacement therapy, limiting the long-term health benefits of intense glycemic control in type 1 and advanced type 2 diabetic patients. It impairs the normal counter-regulatory hormonal and behavioral responses to glucose deprivation, a phenomenon known as hypoglycemia associated autonomic failure (HAAF). The molecular mechanisms leading to defective counter-regulation are not completely understood. We hypothesized that both neuronal (excessive cholinergic signaling between the splanchnic nerve fibers and the adrenal medulla) and humoral factors contribute to the impaired epinephrine production and release in HAAF. To gain further insight into the molecular mechanism(s) …