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Chromosome 18 Studies

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4 papers 0 to 25 followers
By Victoria Miller Trisomy 18 Foundation
Julio A Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others...
December 2017: Journal of Pediatric Genetics
Ekaterina V Poverennaya, Ekaterina V Ilgisonis, Elena A Ponomarenko, Arthur T Kopylov, Victor G Zgoda, Sergey P Radko, Andrey V Lisitsa, Alexander I Archakov
In this work targeted (selected reaction monitoring, SRM, PASSEL: PASS00697) and panoramic (shotgun LC-MS/MS, PRIDE: PXD00244) mass-spectrometric methods as well as transcriptomic analysis of the same samples using RNA-Seq and PCR methods (SRA experiment IDs: SRX341198, SRX267708, SRX395473, SRX390071) were applied for quantification of chromosome 18 encoded transcripts and proteins in human liver and HepG2 cells. The obtained data was used for the estimation of quantitative mRNA-protein ratios for the 275 genes of the selected chromosome in the selected tissues...
December 1, 2017: Journal of Proteome Research
Ekaterina V Ilgisonis, Arthur T Kopylov, Victor G Zgoda
Proteome profiling is a type of quantitative analysis that reveals level of protein expression in the sample. Proteome profiling by using selected reaction monitoring is an approach for the Chromosome-centric Human Proteome Project (C-HPP). Here we describe dataset generated in the course of the pilot phase of Russian part of C-HPP, which was focused on human Chr 18 proteins. Proteome profiling was performed using stable isotope-labeled standards (SRM/SIS) for plasma, liver tissue and HepG2 cells. Dataset includes both positive and negative results of protein detection...
September 2016: Data in Brief
Ekaterina V Poverennaya, Arthur T Kopylov, Elena A Ponomarenko, Ekaterina V Ilgisonis, Victor G Zgoda, Olga V Tikhonova, Svetlana E Novikova, Tatyana E Farafonova, Yana Yu Kiseleva, Sergey P Radko, Igor V Vakhrushev, Konstantin N Yarygin, Sergei A Moshkovskii, Olga I Kiseleva, Andrey V Lisitsa, Alexey S Sokolov, Alexander M Mazur, Egor B Prokhortchouk, Konstantin G Skryabin, Elena S Kostrjukova, Alexander V Tyakht, Alexey Yu Gorbachev, Elena N Ilina, Vadim M Govorun, Alexander I Archakov
A gene-centric approach was applied for a large-scale study of expression products of a single chromosome. Transcriptome profiling of liver tissue and HepG2 cell line was independently performed using two RNA-Seq platforms (SOLiD and Illumina) and also by Droplet Digital PCR (ddPCR) and quantitative RT-PCR. Proteome profiling was performed using shotgun LC-MS/MS as well as selected reaction monitoring with stable isotope-labeled standards (SRM/SIS) for liver tissue and HepG2 cells. On the basis of SRM/SIS measurements, protein copy numbers were estimated for the Chromosome 18 (Chr 18) encoded proteins in the selected types of biological material...
November 4, 2016: Journal of Proteome Research
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