Matches in SemOpenAlex for { <https://semopenalex.org/work/W3125348545> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W3125348545 endingPage "101345" @default.
- W3125348545 startingPage "101345" @default.
- W3125348545 abstract "Alpha 1 Antitrypsin Deficiency (AATD) is a rare condition primarily associated with lung complications and liver disease. As disease symptoms are similar to those in other respiratory conditions, patients generally experience long delays before receiving an accurate diagnosis and treatment. AATD results from mutations in the SERPINA1 gene that encodes Alpha 1 Antitrypsin (AAT). Over 500 single-nucleotide variants have been reported in mutation databases; however, there is increasing interest in the clinical significance of rare and novel SERPINA1 variants. In this case series of four patients from a single US center, next-generation sequencing (NGS) was used to guide AATD diagnosis. Four distinct rare variants of SERPINA1 (P289S; I50N; E204K; H262Y) were identified, three of which were found in patients with advanced chronic obstructive pulmonary disease (COPD)/emphysema. Computational modeling predicted these mutations to have potentially deleterious effects, a finding supported by AAT levels that were comparable with those seen in individuals heterozygous for the most common deficiency allele (PI*MZ). The remaining mutation (E204K) was found in a patient with a cerebral aneurysm; potential links between SERPINA1 variants and neurological conditions, such as cerebral aneurysm and arterial dissections, have been previously reported in individuals with heterozygous AATD phenotypes (PI*MS and PI*MZ). Novel and rare variants, often not detected by basic AATD diagnostic tests, have the potential to contribute to the development of COPD and emphysema. Detection of these variants can be enhanced by NGS, and modeling techniques can help determine if variants are pathogenic, thereby enabling a quicker, more accurate AATD diagnosis." @default.
- W3125348545 created "2021-02-01" @default.
- W3125348545 creator A5083350753 @default.
- W3125348545 date "2021-01-01" @default.
- W3125348545 modified "2023-10-03" @default.
- W3125348545 title "Clinical presentations of four patients with rare Alpha 1 Antitrypsin variants identified in a single US center" @default.
- W3125348545 cites W1983101739 @default.
- W3125348545 cites W2025560515 @default.
- W3125348545 cites W2030994637 @default.
- W3125348545 cites W2047545735 @default.
- W3125348545 cites W2051978340 @default.
- W3125348545 cites W2065885208 @default.
- W3125348545 cites W2067069944 @default.
- W3125348545 cites W2069484087 @default.
- W3125348545 cites W2083120544 @default.
- W3125348545 cites W2086510777 @default.
- W3125348545 cites W2104238967 @default.
- W3125348545 cites W2107111755 @default.
- W3125348545 cites W2122573938 @default.
- W3125348545 cites W2135677683 @default.
- W3125348545 cites W2137554871 @default.
- W3125348545 cites W2148670040 @default.
- W3125348545 cites W2792743785 @default.
- W3125348545 cites W2806809552 @default.
- W3125348545 cites W2897167921 @default.
- W3125348545 cites W2959457049 @default.
- W3125348545 cites W4211049690 @default.
- W3125348545 doi "https://doi.org/10.1016/j.rmcr.2021.101345" @default.
- W3125348545 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7848626" @default.
- W3125348545 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33552892" @default.
- W3125348545 hasPublicationYear "2021" @default.
- W3125348545 type Work @default.
- W3125348545 sameAs 3125348545 @default.
- W3125348545 citedByCount "1" @default.
- W3125348545 countsByYear W31253485452021 @default.
- W3125348545 crossrefType "journal-article" @default.
- W3125348545 hasAuthorship W3125348545A5083350753 @default.
- W3125348545 hasBestOaLocation W31253485451 @default.
- W3125348545 hasConcept C126322002 @default.
- W3125348545 hasConcept C141071460 @default.
- W3125348545 hasConcept C185592680 @default.
- W3125348545 hasConcept C2775944032 @default.
- W3125348545 hasConcept C2779463800 @default.
- W3125348545 hasConcept C2780073493 @default.
- W3125348545 hasConcept C49453240 @default.
- W3125348545 hasConcept C54355233 @default.
- W3125348545 hasConcept C64943373 @default.
- W3125348545 hasConcept C71924100 @default.
- W3125348545 hasConcept C8010536 @default.
- W3125348545 hasConcept C86803240 @default.
- W3125348545 hasConceptScore W3125348545C126322002 @default.
- W3125348545 hasConceptScore W3125348545C141071460 @default.
- W3125348545 hasConceptScore W3125348545C185592680 @default.
- W3125348545 hasConceptScore W3125348545C2775944032 @default.
- W3125348545 hasConceptScore W3125348545C2779463800 @default.
- W3125348545 hasConceptScore W3125348545C2780073493 @default.
- W3125348545 hasConceptScore W3125348545C49453240 @default.
- W3125348545 hasConceptScore W3125348545C54355233 @default.
- W3125348545 hasConceptScore W3125348545C64943373 @default.
- W3125348545 hasConceptScore W3125348545C71924100 @default.
- W3125348545 hasConceptScore W3125348545C8010536 @default.
- W3125348545 hasConceptScore W3125348545C86803240 @default.
- W3125348545 hasLocation W31253485451 @default.
- W3125348545 hasLocation W31253485452 @default.
- W3125348545 hasLocation W31253485453 @default.
- W3125348545 hasOpenAccess W3125348545 @default.
- W3125348545 hasPrimaryLocation W31253485451 @default.
- W3125348545 hasRelatedWork W2022520514 @default.
- W3125348545 hasRelatedWork W2102391386 @default.
- W3125348545 hasRelatedWork W2335157939 @default.
- W3125348545 hasRelatedWork W2737934188 @default.
- W3125348545 hasRelatedWork W2978914220 @default.
- W3125348545 hasRelatedWork W2999710862 @default.
- W3125348545 hasRelatedWork W3090707124 @default.
- W3125348545 hasRelatedWork W3128917249 @default.
- W3125348545 hasRelatedWork W3210436790 @default.
- W3125348545 hasRelatedWork W4232818589 @default.
- W3125348545 hasVolume "32" @default.
- W3125348545 isParatext "false" @default.
- W3125348545 isRetracted "false" @default.
- W3125348545 magId "3125348545" @default.
- W3125348545 workType "article" @default.