scholarly journals Signatures Of Tspan8 Variants Associated With Human Metabolic Regulation And Diseases

2020 ◽  
Author(s):  
Tisham De ◽  
Angela Goncalves ◽  
Doug Speed ◽  
Phillipe Froguel ◽  
Daniel Gaffney ◽  
...  
Keyword(s):  
Metabolic Regulation ◽  
Metabolic Diseases ◽  
Functional Characterization ◽  
H Nmr ◽  
Number Variation ◽  
Exon 11 ◽  
Induced Pluripotent ◽  
Obesity And Cancer ◽  
Complex Human Traits

AbstractHere, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, CNV association with complex human traits such as 1H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 as a new locus associated with metabolomic regulation and show that its biology is associated with several metabolic diseases such as type 2 diabetes (T2D), obesity and cancer. Our results further demonstrate the power of multivariate association models over univariate methods and define new metabolomic signatures for several new genomic loci, which can act as a catalyst for new diagnostics and therapeutic approaches.

scholarly journals Structural and functional characterization of cytochrome c 3 from D. desulfuricans ATCC 27774 by 1 H-NMR

FEBS Letters ◽  
1996 ◽  
Vol 390 (1) ◽  
pp. 59-62 ◽  
Author(s):  
Ricardo O. Louro ◽  
Isabel Pacheco ◽  
David L. Turner ◽  
Jean LeGall ◽  
António V. Xavier
Keyword(s):  
Cytochrome C ◽  
Functional Characterization ◽  
H Nmr

scholarly journals Transcriptomic Landscape and Functional Characterization of Induced Pluripotent Stem Cell–Derived Cerebral Organoids in Schizophrenia

2020 ◽  
Vol 77 (7) ◽  
pp. 745 ◽  
Author(s):  
Annie Kathuria ◽  
Kara Lopez-Lengowski ◽  
Smita S. Jagtap ◽  
Donna McPhie ◽  
Roy H. Perlis ◽  
...  
Keyword(s):  
Stem Cell ◽  
Pluripotent Stem Cell ◽  
Functional Characterization ◽  
Induced Pluripotent Stem Cell ◽  
Induced Pluripotent

scholarly journals sRNA Target Prediction Organizing Tool (SPOT) Integrates Computational and Experimental Data To Facilitate Functional Characterization of Bacterial Small RNAs

mSphere ◽  
2019 ◽  
Vol 4 (1) ◽  
Author(s):  
Alisa M. King ◽  
Carin K. Vanderpool ◽  
Patrick H. Degnan
Keyword(s):  
Experimental Data ◽  
Stress Responses ◽  
Small Rnas ◽  
Metabolic Regulation ◽  
Functional Characterization ◽  
Target Prediction ◽  
Structure Stability ◽  
Accurate Identification ◽  
Mrna Targets

Small RNAs (sRNAs) regulate gene expression in diverse bacteria by interacting with mRNAs to change their structure, stability, or translation. Hundreds of sRNAs have been identified in bacteria, but characterization of their regulatory functions is limited by difficulty with sensitive and accurate identification of mRNA targets. Thus, new robust methods of bacterial sRNA target identification are in demand. Here, we describe our small RNA target prediction organizing tool (SPOT), which streamlines the process of sRNA target prediction by providing a single pipeline that combines available computational prediction tools with customizable results filtering based on experimental data. SPOT allows the user to rapidly produce a prioritized list of predicted sRNA-target mRNA interactions that serves as a basis for further experimental characterization. This tool will facilitate elucidation of sRNA regulons in bacteria, allowing new discoveries regarding the roles of sRNAs in bacterial stress responses and metabolic regulation.

scholarly journals Identification and functional characterization of a cytoplasmic nucleophosmin leukaemic mutant generated by a novel exon-11 NPM1 mutation

Leukemia ◽  
2007 ◽  
Vol 21 (5) ◽  
pp. 1099-1103 ◽  
Author(s):  
E Albiero ◽  
D Madeo ◽  
N Bolli ◽  
I Giaretta ◽  
E Di Bona ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Npm1 Mutation ◽  
Exon 11 ◽  
Novel Exon

scholarly journals Characterization of Functional Human Skeletal Myotubes and Neuromuscular Junction Derived—From the Same Induced Pluripotent Stem Cell Source

2020 ◽  
Vol 7 (4) ◽  
pp. 133
Author(s):  
Xiufang Guo ◽  
Agnes Badu-Mensah ◽  
Michael C. Thomas ◽  
Christopher W. McAleer ◽  
James J. Hickman
Keyword(s):  
Stem Cell ◽  
Pluripotent Stem Cell ◽  
Disease Modeling ◽  
Neuromuscular Junctions ◽  
Functional Characterization ◽  
Induced Pluripotent Stem Cell ◽  
Patient Specific ◽  
Type I ◽  
Induced Pluripotent

In vitro generation of functional neuromuscular junctions (NMJs) utilizing the same induced pluripotent stem cell (iPSC) source for muscle and motoneurons would be of great value for disease modeling and tissue engineering. Although, differentiation and characterization of iPSC-derived motoneurons are well established, and iPSC-derived skeletal muscle (iPSC-SKM) has been reported, there is a general lack of systemic and functional characterization of the iPSC-SKM. This study performed a systematic characterization of iPSC-SKM differentiated using a serum-free, small molecule-directed protocol. Morphologically, the iPSC-SKM demonstrated the expression and appropriate distribution of acetylcholine, ryanodine and dihydropyridine receptors. Fiber type analysis revealed a mixture of human fast (Type IIX, IIA) and slow (Type I) muscle types and the absence of animal Type IIB fibers. Functionally, the iPSC-SKMs contracted synchronously upon electrical stimulation, with the contraction force comparable to myofibers derived from primary myoblasts. Most importantly, when co-cultured with human iPSC-derived motoneurons from the same iPSC source, the myofibers contracted in response to motoneuron stimulation indicating the formation of functional NMJs. By demonstrating comparable structural and functional capacity to primary myoblast-derived myofibers, this defined, iPSC-SKM system, as well as the personal NMJ system, has applications for patient-specific drug testing and investigation of muscle physiology and disease.

Sign in / Sign up

Export Citation Format

Share Document