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| http://purl.uniprot.org/citations/35025710 | http://www.w3.org/2000/01/rdf-schema#comment | "IntroductionAlpha-1 antitrypsin deficiency occurs in individuals with deleterious genetic mutations on both chromosomes (maternal and paternal) in SERPINA1, the gene encoding the alpha-1 antitrypsin protein. There has been substantial progress in understanding the genetic variation that underlies the heterogeneous penetrance of lung disease in alpha-1 antitrypsin deficiency.Areas coveredThis review will cover SERPINA1 gene structure and genetic variation, population genetics, genome-wide genetic modifiers of lung disease, alternative mechanisms of disease, and emerging therapeutics - including gene and cell therapy - related to alpha-1 antitrypsin deficiency-associated lung disease.Expert opinionThere remains ample opportunity to employ precision medicine in the diagnosis, prognosis, and therapy of alpha-1 antitrypsin deficiency-associated lung disease. In particular, a genome-wide association study and subsequent polygenic risk score is an important first step in identifying genome-wide genetic modifiers contributing to the variability of lung disease in severe alpha-1 antitrypsin deficiency."xsd:string |
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| http://purl.uniprot.org/citations/35025710 | http://purl.uniprot.org/core/author | "Hobbs B.D."xsd:string |
| http://purl.uniprot.org/citations/35025710 | http://purl.uniprot.org/core/author | "Ghosh A.J."xsd:string |
| http://purl.uniprot.org/citations/35025710 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35025710 | http://purl.uniprot.org/core/name | "Expert Rev Respir Med"xsd:string |
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| http://purl.uniprot.org/citations/35025710 | http://purl.uniprot.org/core/title | "Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches."xsd:string |
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