M. Siu

Diagnostic Performance of Host-based Gene Expression Diagnostics in Children With Extrapulmonary Tuberculosis: A Systematic Review

M. Siu, Maria Selinopoulou, Susan Abarca-Salazar, Jonathan P. Sturgeon et autres

BACKGROUND: Diagnosing extrapulmonary tuberculosis (EPTB) in children is challenging due to nonspecific presentations and poor diagnostic yield from conventional microbiologic tests. Host gene expression signatures offer a non-sputum-based diagnostic alternative. This systematic review evaluates their diagnostic performance in pediatric EPTB. METHODS: We …

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IDENTIFICATION OF GENE REGULATORY NETWORKS ESSENTIAL FOR HEMATOPOIETIC PROGENITOR CELL AND T CELL EMERGENCE FROM HUMAN PLURIPOTENT STEM CELL VIA CRISPR SCREENS

M. Siu, Emily A Flaschner, Y.S. Michaels, Peter W. Zandstra

ca (code pays fourni par la source)

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

M. Siu, Darci T. Butcher, Andrei L. Turinsky, Cheryl S. Cytrynbaum et autres

Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (> 200 ASD-risk genes), no single gene variant accounts for > 1% of all ASD cases. A role for epigenetic mechanisms in ASD …

ca (code pays fourni par la source)

Additional file 3: of Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

M. Siu, Donna O. Butcher, Andrei L. Turinsky, Cheryl S. Cytrynbaum et autres

Table S1. Demographic information for heterogeneous ASD cases and age- and sex-matched neurotypical controls. Table S2. Number of probes removed and remaining for analysis following quality control. Table S3. List of overlapping DMRs for 16p11.2del. Table S4. List of overlapping DMRs for …

NSD1 mutations generate a genome-wide DNA methylation signature

Sanaa Choufani, Cheryl S. Cytrynbaum, Brian Hon‐Yin Chung, Andrei L. Turinsky et autres

Sotos syndrome (SS) represents an important human model system for the study of epigenetic regulation; it is an overgrowth/intellectual disability syndrome caused by mutations in a histone methyltransferase, NSD1. As layered epigenetic modifications are often interdependent, we propose that pathogenic NSD1 mutations …

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Succinylated Whey Protein Concentrates in Ice Cream and Instant Puddings

Lilian U. Thompson, D.J. Reniers, Lilia M. Baker, M. Siu

The effect on quality of substituting succinylated cheese whey protein concentrate for nonfat dry milk in ice cream and instant pudding was examined.The use of succinylated whey protein concentrate in ice cream increased viscosity and resistance to melting and reduced freezing time …

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Effect of Succinylation on the Protein Quality and Urinary Excretion of Bound and Free Amino Acids

M. Siu, Lilian U. Thompson

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Nutritional Properties of Succinylated Cheese Whey Protein Concentrates

M. Siu, Lilian U. Thompson

ca (code pays fourni par la source)