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 PAF-AH/PLA(2)G7/LpPLA(2) 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...

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Autor principal: Stafforini, Diana M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International 2009
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978535/
https://www.ncbi.nlm.nih.gov/pubmed/27713227
http://dx.doi.org/10.3390/ph2030094
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author Stafforini, Diana M.
author_facet Stafforini, Diana M.
author_sort Stafforini, Diana M.
collection PubMed
description In the past several years a number of alterations in the PAF-AH/PLA(2)G7/LpPLA(2) 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.
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spelling pubmed-39785352014-04-10 Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene Stafforini, Diana M. Pharmaceuticals (Basel) Review In the past several years a number of alterations in the PAF-AH/PLA(2)G7/LpPLA(2) 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. Molecular Diversity Preservation International 2009-11-20 /pmc/articles/PMC3978535/ /pubmed/27713227 http://dx.doi.org/10.3390/ph2030094 Text en © 2009 by the authors; licensee Molecular Diversity Preservation International, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0/ This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Review
Stafforini, Diana M.
Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene
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 Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978535/
https://www.ncbi.nlm.nih.gov/pubmed/27713227
http://dx.doi.org/10.3390/ph2030094
work_keys_str_mv AT stafforinidianam functionalconsequencesofmutationsandpolymorphismsinthecodingregionofthepafacetylhydrolasepafahgene

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