scholarly journals Measurement of absolute copy number variation of Glutathione S-Transferase M1 gene by digital droplet PCR and association analysis in Tunisian Rheumatoid Arthritis population

2017 ◽  
Vol 32 (3) ◽  
pp. e22300
Author(s):  
Yosser Achour ◽  
Mohamed Sahbi Ben Kilani ◽  
Mariem Ben Hamad ◽  
Sameh Marzouk ◽  
Nadia Mahfoudh ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Copy Number Variation ◽  
Association Analysis ◽  
Copy Number ◽  
Glutathione S Transferase ◽  
Digital Droplet Pcr ◽  
Rheumatoid Arthritis Population ◽  
Absolute Copy Number ◽  
Number Variation ◽  
Droplet Pcr

scholarly journals Carcinosarcoma of the prostate: case report with molecular and histological characterization

2018 ◽  
Vol 33 (4) ◽  
pp. 540-544 ◽  
Author(s):  
Samanta Salvi ◽  
Valentina Casadio ◽  
Filippo Martignano ◽  
Giorgia Gurioli ◽  
Maria Maddalena Tumedei ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Copy Number ◽  
Copy Number Variations ◽  
Molecular Characteristics ◽  
Glutathione S Transferase ◽  
Molecular Alterations ◽  
Positive Expression ◽  
Molecular Pattern ◽  
Programmed Death ◽  
Number Variation

Background: We report a case of prostatic carcinosarcoma, a rare variant of prostatic cancer, which is composed of a mixture of epithelial and mesenchymal components with a generally poor outcome. Aims and methods: We aim to identify molecular alterations, in particular copy number variations of AR and c -MYC genes, methylation and expression of glutathione S-transferase P1 (GSTP1), programmed death-ligand 1 (PD-L1), AR, and phosphorylated AR expression. Results: We found a distinct molecular pattern between adenocarcinoma and carcinosarcoma, which was characterized by high AR copy number variation gain; positive expression of PD-L1, AR, and phosphorylated AR; low espression of GSTP1 in epithelial component. The sarcomatoid component had a lower gain of the AR gene, and no expression of PD-L1, AR, phosphorylated AR, or GSTP1. Both components had a gain of c-MYC copy number variation. Conclusions: Our findings suggest that carcinosarcoma has specific molecular characteristics that could be indicative for early diagnosis and treatment selection.

Association analysis of KMT2D copy number variation as a positional candidate for growth traits

Gene ◽  
2020 ◽  
Vol 753 ◽  
pp. 144799
Author(s):  
Jie Cheng ◽  
Rui Jiang ◽  
Yu Yang ◽  
Xiukai Cao ◽  
Yongzhen Huang ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Association Analysis ◽  
Copy Number ◽  
Growth Traits ◽  
Positional Candidate ◽  
Number Variation

scholarly journals Copy Number Variation of the PIGY Gene in Sheep and Its Association Analysis with Growth Traits

Animals ◽  
2020 ◽  
Vol 10 (4) ◽  
pp. 688 ◽  
Author(s):  
Ziting Feng ◽  
Xinyu Li ◽  
Jie Cheng ◽  
Rui Jiang ◽  
Ruolan Huang ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Association Analysis ◽  
Copy Number ◽  
Growth Traits ◽  
Gansu Province ◽  
Genomic Variation ◽  
Association Analyses ◽  
Qinghai Province ◽  
Real Time Quantitative Pcr ◽  
Number Variation

Copy number variation (CNV) is a type of genomic variation with an important effect on animal phenotype. We found that the PIGY gene contains a 3600 bp copy number variation (CNV) region located in chromosome 6 of sheep (Oar_v4.0 36,121,601–36,125,200 bp). This region overlaps with multiple quantitative trait loci related to phenotypes like muscle density and carcass weight. Therefore, in this study, the copy number variation of the PIGY gene was screened in three Chinese sheep breeds, namely, Chaka sheep (CKS, May of 2018, Wulan County, Qinghai Province, China), Hu sheep (HS, May of 2015, Mengjin County, Henan Province, China), and small-tailed Han sheep (STHS, May of 2016, Yongjing, Gansu Province, China). Association analyses were performed on the presence of CNV and sheep body size traits. We used real-time quantitative PCR (qPCR) to detect the CNV for association analysis. According to the results, the loss-type CNV was more common than other types in the three breeds (global average: loss = 61.5%, normal = 17.5%, and gain = 21.0%). The association analysis also showed significant effects of the PIGY gene CNV on body weight, chest circumference, and circumference of the cannon bone of sheep. Sheep with gain-type CNV had better growth traits than those with other types. The results indicate a clear relationship between the PIGY gene CNV and growth traits of sheep, suggesting the use of CNV as a new molecular breeding marker.

Copy Number Variation of the GeneNCF1Is Associated with Rheumatoid Arthritis

2012 ◽  
Vol 16 (1) ◽  
pp. 71-78 ◽  
Author(s):  
Lina M. Olsson ◽  
Annika Nerstedt ◽  
Anna-Karin Lindqvist ◽  
Åsa C.M. Johansson ◽  
Patrik Medstrand ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Number Variation

scholarly journals Measurement of absolute copy number variation reveals association with essential hypertension

2014 ◽  
Vol 7 (1) ◽  
Author(s):  
Francine Z Marques ◽  
Priscilla R Prestes ◽  
Leonardo B Pinheiro ◽  
Katrina Scurrah ◽  
Kerry R Emslie ◽  
...  
Keyword(s):  
Essential Hypertension ◽  
Copy Number Variation ◽  
Copy Number ◽  
Absolute Copy Number ◽  
Number Variation

scholarly journals Effect of MPG Gene rs2858056 Polymorphism, Copy Number Variation, and Level of Serum MPG Protein on the Risk for Rheumatoid Arthritis

PLoS ONE ◽  
2015 ◽  
Vol 10 (3) ◽  
pp. e0120699 ◽  
Author(s):  
Chung-Ming Huang ◽  
Shih-Yin Chen ◽  
Po-Hao Huang ◽  
Fuu-Jen Tsai
Keyword(s):  
Rheumatoid Arthritis ◽  
Copy Number Variation ◽  
Copy Number ◽  
Number Variation
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