Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene
In the past several years a number of alterations in the PAFAH/PLA2G7/LpPLA2 gene have been described. These include inactivating mutations, polymorphisms in the coding region, and other genetic changes located in promoter and intronic regions of the gene. The consequences associated with these gene...
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| Format: | Article |
| Language: | English |
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MDPI AG
2009-11-01
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| Series: | Pharmaceuticals |
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| Online Access: | http://www.mdpi.com/1424-8247/2/3/94/ |
| _version_ | 1818145638886408192 |
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| author | Diana M. Stafforini |
| author_facet | Diana M. Stafforini |
| author_sort | Diana M. Stafforini |
| collection | DOAJ |
| description | In the past several years a number of alterations in the PAFAH/PLA2G7/LpPLA2 gene have been described. These include inactivating mutations, polymorphisms in the coding region, and other genetic changes located in promoter and intronic regions of the gene. The consequences associated with these genetic variations have been evaluated from different perspectives, including in vitro biochemical and molecular studies and clinical analyses in human subjects. This review highlights the current state of the field and suggests new approaches that can be used to evaluate functional consequences associated with mutations and polymorphisms in the PAF-AH gene. |
| first_indexed | 2024-12-11T12:06:39Z |
| format | Article |
| id | doaj.art-fe8f4848de284181aa8576d9a067bce4 |
| institution | Directory Open Access Journal |
| issn | 1424-8247 |
| language | English |
| last_indexed | 2024-12-11T12:06:39Z |
| publishDate | 2009-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pharmaceuticals |
| spelling | doaj.art-fe8f4848de284181aa8576d9a067bce42022-12-22T01:07:55ZengMDPI AGPharmaceuticals1424-82472009-11-01239411710.3390/ph2030094Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) GeneDiana M. StafforiniIn the past several years a number of alterations in the PAFAH/PLA2G7/LpPLA2 gene have been described. These include inactivating mutations, polymorphisms in the coding region, and other genetic changes located in promoter and intronic regions of the gene. The consequences associated with these genetic variations have been evaluated from different perspectives, including in vitro biochemical and molecular studies and clinical analyses in human subjects. This review highlights the current state of the field and suggests new approaches that can be used to evaluate functional consequences associated with mutations and polymorphisms in the PAF-AH gene.http://www.mdpi.com/1424-8247/2/3/94/PAF acetylhydrolasePLA2G7single nucleotide polymorphismmutationvascular disease |
| spellingShingle | Diana M. Stafforini Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene Pharmaceuticals PAF acetylhydrolase PLA2G7 single nucleotide polymorphism mutation vascular disease |
| title | Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene |
| title_full | Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene |
| title_fullStr | Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene |
| title_full_unstemmed | Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene |
| title_short | Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene |
| title_sort | functional consequences of mutations and polymorphisms in the coding region of the paf acetylhydrolase paf ah gene |
| topic | PAF acetylhydrolase PLA2G7 single nucleotide polymorphism mutation vascular disease |
| url | http://www.mdpi.com/1424-8247/2/3/94/ |
| work_keys_str_mv | AT dianamstafforini functionalconsequencesofmutationsandpolymorphismsinthecodingregionofthepafacetylhydrolasepafahgene |