Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene

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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Main Author: Diana M. Stafforini
Format: Article
Language:English
Published: MDPI AG 2009-11-01
Series:Pharmaceuticals
Subjects:
PAF acetylhydrolase
PLA2G7
single nucleotide polymorphism
mutation
vascular disease
Online Access:http://www.mdpi.com/1424-8247/2/3/94/
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spelling doaj-fe8f4848de284181aa8576d9a067bce42020-11-25T03:40:04ZengMDPI 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
collection DOAJ
language English
format Article
sources DOAJ
author Diana M. Stafforini
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
author_facet Diana M. Stafforini
author_sort Diana M. Stafforini
title 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_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_sort functional consequences of mutations and polymorphisms in the coding region of the paf acetylhydrolase (paf-ah) gene
publisher MDPI AG
series Pharmaceuticals
issn 1424-8247
publishDate 2009-11-01
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.
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
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