scholarly journals Characterization of NOL7 Gene Point Mutations, Promoter Methylation, and Protein Expression in Cervical Cancer

2012 ◽  
Vol 31 (1) ◽  
pp. 15-24 ◽  
Author(s):  
Colleen L. Doçi ◽  
Tanmayi P. Mankame ◽  
Alexander Langerman ◽  
Kelly R. Ostler ◽  
Rajani Kanteti ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Protein Expression ◽  
Promoter Methylation ◽  
Point Mutations

scholarly journals Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies

2021 ◽  
Vol 12 ◽  
Author(s):  
Gisela Gaina ◽  
Rolf H. A. M. Vossen ◽  
Emilia Manole ◽  
Doina Anca Plesca ◽  
Elena Ionica
Keyword(s):  
Protein Expression ◽  
Copy Number Variants ◽  
Point Mutations ◽  
Becker Muscular Dystrophy ◽  
Molecular Data ◽  
Inherited Disorders ◽  
Reading Frame ◽  
Hrm Analysis ◽  
Dystrophin Protein

Duchenne and Becker muscular dystrophy are X-linked recessive inherited disorders characterized by progressive weakness due to skeletal muscle degeneration. Different mutations in the DMD gene, which encodes for dystrophin protein, are responsible for these disorders. The aim of our study was to investigate the relationship between type, size, and location of the mutation that occurs in the DMD gene and their effect on dystrophin protein expression in a cohort of 40 male dystrophinopathy patients and nine females, possible carriers. We evaluated the expression of dystrophin by immunofluorescence and immunoblotting. The mutational spectrum of the DMD gene was established by MLPA for large copy number variants, followed by HRM analysis for point mutations and sequencing of samples with an abnormal melting profile. MLPA revealed 30 deletions (75%) and three duplications (7.5%). HRM analysis accounted for seven-point mutations (17.5%). We also report four novel small mutations (c. 8507G>T, c.3021delG, c.9563_9563+1insAGCATGTTTATGATACAGCA, c.7661-60T>A) in DMD gene. Our work shows that the DNA translational open reading frame and the location of the mutation both influence the expression of dystrophin and disease severity phenotype. The proposed algorithm used in this study demonstrates its accuracy for the characterization of dystrophinopathy patients.

scholarly journals Characterization of synthetic riboswitch in cell-free protein expression systems

RNA Biology ◽  
2021 ◽  
pp. 1-12
Author(s):  
Yaroslav Chushak ◽  
Svetlana Harbaugh ◽  
Kathryn Zimlich ◽  
Bryan Alfred ◽  
Jorge Chávez ◽  
...  
Keyword(s):  
Protein Expression ◽  
Expression Systems ◽  
Free Protein

scholarly journals Characterization of CRISPR Spacer and Protospacer Sequences in Paenibacillus larvae and Its Bacteriophages

Viruses ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 459
Author(s):  
Casey Stamereilers ◽  
Simon Wong ◽  
Philippos K. Tsourkas
Keyword(s):  
Comparative Studies ◽  
Point Mutations ◽  
Paenibacillus Larvae ◽  
Bacterial Disease ◽  
American Foulbrood ◽  
Antibiotic Resistant ◽  
Future Studies ◽  
Complete Genomes ◽  
Point Of Reference

The bacterium Paenibacillus larvae is the causative agent of American foulbrood, the most devastating bacterial disease of honeybees. Because P. larvae is antibiotic resistant, phages that infect it are currently used as alternative treatments. However, the acquisition by P. larvae of CRISPR spacer sequences from the phages could be an obstacle to treatment efforts. We searched nine complete genomes of P. larvae strains and identified 714 CRISPR spacer sequences, of which 384 are unique. Of the four epidemiologically important P. larvae strains, three of these have fewer than 20 spacers, while one strain has over 150 spacers. Of the 384 unique spacers, 18 are found as protospacers in the genomes of 49 currently sequenced P. larvae phages. One P. larvae strain does not have any protospacers found in phages, while another has eight. Protospacer distribution in the phages is uneven, with two phages having up to four protospacers, while a third of phages have none. Some phages lack protospacers found in closely related phages due to point mutations, indicating a possible escape mechanism. This study serve a point of reference for future studies on the CRISPR-Cas system in P. larvae as well as for comparative studies of other phage–host systems.

scholarly journals Mechanism of MicroRNA-375 Promoter Methylation in Promoting Ovarian Cancer Cell Malignancy

2021 ◽  
Vol 20 ◽  
pp. 153303382098011
Author(s):  
Junjun Shu ◽  
Ling Xiao ◽  
Sanhua Yan ◽  
Boqun Fan ◽  
Xia Zou ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Protein Expression ◽  
Cell Lines ◽  
Cell Invasion ◽  
Promoter Methylation ◽  
Luciferase Reporter ◽  
Luciferase Reporter Gene ◽  
Gene Assay ◽  
Cell Malignancy

Objective: Ovarian cancer (OC) ranks one of the most prevalent fatal tumors of female genital organs. Aberrant promoter methylation triggers changes of microRNA (miR)-375 in OC. Our study aimed to evaluate the mechanism of methylated miR-375 promoter region in OC cell malignancy and to seek the possible treatment for OC. Methods: miR-375 promoter methylation level in OC tissues and cells was detected. miR-375 expression in OC tissues and cell lines was compared with that in demethylated cells. Role of miR-375 in OC progression was measured. Dual-luciferase reporter gene assay was utilized to verify the targeting relationship between miR-375 and Yes-associated protein 1 (YAP1). Then, Wnt/β-catenin pathway-related protein expression was tested. Moreover, xenograft transplantation was applied to confirm the in vitro experiments. Results: Highly methylated miR-375 was seen in OC tissues and cell lines, while its expression was decreased as the promoter methylation increased. Demethylation in OC cells brought miR-375 back to normal level, with obviously declined cell invasion, migration and viability and improved apoptosis. Additionally, miR-375 targeted YAP1 to regulate the Wnt/β-catenin pathway protein expression. Overexpressed YAP1 reversed the protein expression, promoted cell invasion, migration and viability while reduced cell apoptosis. Overexpressed miR-375 in vivo inhibited OC progression. Conclusion: Our study demonstrated that demethylated miR-375 inhibited OC growth by targeting YAP1 and downregulating the Wnt/β-catenin pathway. This investigation may offer novel insight for OC treatment.

scholarly journals Functional characterization of somatic point mutations of the human estrogen receptor α (hERα) in adenomyosis uteri

2004 ◽  
Vol 10 (12) ◽  
pp. 853-860 ◽  
Author(s):  
Martin K. Oehler ◽  
Holger Greschik ◽  
Dagmar-C. Fischer ◽  
Xiaowen Tong ◽  
Roland Schuele ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Functional Characterization ◽  
Point Mutations ◽  
Estrogen Receptor Α ◽  
Human Estrogen Receptor

scholarly journals Characterization of Polysaccharide by HPLC: Extraction and Anticancer Effects

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Liming Gao ◽  
Ya Di ◽  
Jiandong Wu ◽  
Ming Shi ◽  
Fulu Zheng
Keyword(s):  
Cervical Cancer ◽  
Health Hazard ◽  
Serum Levels ◽  
Hplc Method ◽  
Inhibit Tumor Growth ◽  
Anticancer Effects ◽  
Liver And Kidney ◽  
Shark Cartilage ◽  
Natural Medicines

Cervical cancer is a serious health hazard for women’s reproductive system cancer; the method of treatment for cervical cancer is still in surgery, chemotherapy, and radiotherapy as the basic means, but with many complications. The effects of natural medicines for cervical cancer are increasingly becoming the focus of people’s attentions. By studying the polysaccharide of cervical cancer in mice, we found that shark cartilage polysaccharide can increase the serum levels of T-SOD and GSH and decrease MDA level significantly in the tumor mice. The distribution of the drug in the tissue was determined by HPLC method; the drug can be drawn in the liver and kidney the highest, followed by the spleen, lung, and brain levels being the lowest. Polysaccharide can inhibit tumor growth in the mice which may be connected with the enhanced immunity and the antioxidant capacity.

scholarly journals Characterization of long non-coding RNA expression profiles in lymph node metastasis of early-stage cervical cancer

2016 ◽  
Vol 35 (6) ◽  
pp. 3185-3197 ◽  
Author(s):  
CHUNLIANG SHANG ◽  
WENHUI ZHU ◽  
TIANYU LIU ◽  
WEI WANG ◽  
GUANGXIN HUANG ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Lymph Node ◽  
Early Stage ◽  
Expression Profiles ◽  
Rna Expression ◽  
Node Metastasis ◽  
Non Coding Rna ◽  
Early Stage Cervical Cancer ◽  
Long Non Coding Rna

scholarly journals APC promoter methylation and protein expression in hepatocellular carcinoma

2007 ◽  
Vol 134 (5) ◽  
pp. 579-589 ◽  
Author(s):  
Antal Csepregi ◽  
Christoph Röcken ◽  
Juliane Hoffmann ◽  
Ping Gu ◽  
Stephan Saliger ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Protein Expression ◽  
Promoter Methylation
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