scholarly journals Functional study of SCCD pathogenic gene UBIAD1 (Review)

2021 ◽  
Vol 24 (4) ◽  
Author(s):  
Jumin Xie ◽  
Lingxing Li
Keyword(s):  
Functional Study ◽  
Pathogenic Gene

Acquired Haemophilia: Functional Study of Antibodies to Factor VIII

1981 ◽  
Vol 45 (03) ◽  
pp. 285-289 ◽  
Author(s):  
J P Allain ◽  
A Gaillandre ◽  
D Frommel
Keyword(s):  
Factor Viii ◽  
Functional Study ◽  
Factor Viii Inhibitor ◽  
Acquired Haemophilia ◽  
Viii Inhibitor ◽  
Kinetics Of ◽  
Antibody Function ◽  
Native Plasma

SummaryFactor VIII complex and its interaction with antibodies to factor VIII have been studied in 17 non-haemophilic patients with factor VIII inhibitor. Low VIII:C and high VIIIR.Ag levels were found in all patients. VIII:WF levels were 50% of those of VTIIRrAg, possibly related to an increase of poorly aggregated and electrophoretically fast moving VIIIR:Ag oligomers.Antibody function has been characterized by kinetics of VIII :C inactivation, saturability by normal plasma and the slope of the affinity curve. Two major patterns were observed:1) Antibodies from 6 patients behaved similarly to those from haemophiliacs by showing second order inhibition kinetics, easy saturability and steep affinity slope (> 1).2) Antibodies from other patients, usually with lower titres, inactivated VIII :C according to complex order kinetics, were not saturable, and had a less steep affinity slope (< 0.7). In native plasma, or after mixing with factor VIII concentrate, antibodies of the second group did not form immune complexes with the whole factor VIII molecular complex. However, dissociation procedures did release some antibodies from apparently low molecular weight complexes formed in vivo or in vitro. For appropriate management of non-haemophilic patients with factor VIII inhibitor, it is important to determine the functional properties of their antibodies to factor VIII.

Unearthing Houses in Porphyreon and Chhim. Structure, Spatial Development, and Decoration of Domestic Spaces in Late Antique Phoenicia

2020 ◽  
pp. 173-195
Author(s):  
Tomasz Waliszewski ◽  
Julia Burdajewicz
Keyword(s):  
Social Structure ◽  
Late Antiquity ◽  
Research Team ◽  
Wall Painting ◽  
Domestic Architecture ◽  
Functional Study ◽  
Late Antique ◽  
Rural Settlements ◽  
Domestic Spaces ◽  
Residential Architecture

Porphyreon (Jiyeh/Nebi Younis) and Chhim were large rural settlements situated on the coast of modernday Lebanon, north of the Phoenician city of Sidon. As attested by the remains of residential architecture, they were thriving during the Roman Period and late Antiquity (1st–7th centuries AD). This article presents the preliminary observations on the domestic architecture uncovered at both sites, their spatial and social structure, as well as their furnishing and decoration, based on the fieldwork carried out in recent years by the joint PolishLebanese research team. The focus will be put on the wall painting fragments found in considerable numbers in Porphyreon. The iconographical and functional study of the paintings betrays to what extent the inhabitants of rural settlements in the coastal zone of the Levant were inclined to imitate the decoration of the urban houses known to them from the nearby towns, such as Berytus, but also from religious contexts represented by churches.

Functional Study of the Human BRCA2 Tumor Suppressor

2005 ◽  
Author(s):  
Bing Xia ◽  
David M. Livingston
Keyword(s):  
Tumor Suppressor ◽  
Functional Study

Pathogenic Genes Selection Model of Genetic Disease based on Network Motifs Slicing Feedback

2019 ◽  
Vol 16 (5) ◽  
pp. 392-401
Author(s):  
Shengli Zhang ◽  
Zekun Tong ◽  
Haoyu Yin ◽  
Yifan Feng
Keyword(s):  
Genetic Disease ◽  
Drug Targets ◽  
Selection Model ◽  
Network Motifs ◽  
Gene Set ◽  
Pathway Network ◽  
Gene Pathway ◽  
Pathogenic Genes ◽  
Pathogenic Gene ◽  
Selection Of

Background: Finding the pathogenic gene is very important for understanding the pathogenesis of the disease, locating effective drug targets and improving the clinical level of medical treatment. However, the existing methods for finding the pathogenic genes still have limitations, for instance the computational complexity is high, and the combination of multiple genes and pathways has not been considered to search for highly related pathogenic genes and so on. Methods: We propose a pathogenic genes selection model of genetic disease based on Network Motifs Slicing Feedback (NMSF). We find a point set which makes the conductivity of the motif minimum then use it to substitute for the original gene pathway network. Based on the NMSF, we propose a new pathogenic genes selection model to expand pathogenic gene set. Results: According to the gene set we have obtained, selection of key genes will be more accurate and convincing. Finally, we use our model to screen the pathogenic genes and key pathways of liver cancer and lung cancer, and compare the results with the existing methods. Conclusion: The main contribution is to provide a method called NMSF which simplifies the gene pathway network to make the selection of pathogenic gene simple and feasible. The fact shows our result has a wide coverage and high accuracy and our model has good expeditiousness and robustness.

Bioinformatics Analysis and Validation of Differentially Expressed MicroRNAs with Their Target Genes Involved in GLP-1RA Facilitated Osteogenesis

2020 ◽  
Vol 15 ◽  
Author(s):  
Na Wang ◽  
Yukun Li ◽  
Sijing Liu ◽  
Liu Gao ◽  
Chang Liu ◽  
...  
Keyword(s):  
High Throughput Sequencing ◽  
Target Genes ◽  
Bioinformatics Analysis ◽  
Differentially Expressed ◽  
Functional Study ◽  
Regulation Network ◽  
Glucagon Like Peptide 1 ◽  
G Protein Coupled ◽  
Lower Expression

Background: Recent studies revealed that the hypoglycemic hormone, glucagon-like peptide-1 (GLP-1), acted as an important modulator in osteogenesis of bone marrow derived mesenchymal stem cells (BMSCs). Objectives: The aim of this study was to identify the specific microRNA (miRNA) using bioinformatics analysis and validate the presence of differentially expressed microRNAs with their target genes after GLP-1 receptor agonist (GLP-1RA) administration involved in ostogenesis of BMSCs. Methods: MiRNAs were extracted from BMSCs after 5 days’ treatment and sent for high-throughput sequencing for differentially expressed (DE) miRNAs analyses. Then the expression of the DE miRNAs verified by the real-time RT-PCR analyses. Target genes were predicted, and highly enriched GOs and KEGG pathway analysis were conducted using bioinformatics analysis. For the functional study, two of the target genes, SRY (sex determining region Y)-box 5 (SOX5) and G protein-coupled receptor 84 (GPR84), were identified. Results: A total of 5 miRNAs (miRNA-509-5p, miRNA-547-3p, miRNA-201-3p, miRNA-201-5p, and miRNA-novel-272-mature) were identified differentially expressed among groups. The expression of miRNA-novel-272-mature were decreased during the osteogenic differentiation of BMSCs, and GLP-1RA further decreased its expression. MiRNA-novel-272-mature might interact with its target mRNAs to enhance osteogenesis. The lower expression of miRNA-novel-272-mature led to an increase in SOX5 and a decrease in GPR84 mRNA expression, respectively. Conclusions: Taken together, these results provide further insights to the pharmacological properties of GLP-1RA and expand our knowledge on the role of miRNAs-mRNAs regulation network in BMSCs’ differentiation.

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