Matches in SemOpenAlex for { <https://semopenalex.org/work/W3029073398> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W3029073398 endingPage "843" @default.
- W3029073398 startingPage "839" @default.
- W3029073398 abstract "ObjectiveTo report a case of pseudoxanthoma elasticum, and to analyze mutations of the ABCC6 gene in the family with pseudoxanthoma elasticum.MethodsClinical data were obtained from a female patient with pseudoxanthoma elasticum and analyzed. Blood samples were collected from the proband, her parents and son, as well as 100 unrelated healthy human controls. Genomic DNA was extracted from these blood samples. PCR was performed to amplify 31 exons of the ABCC6 gene followed by direct DNA sequencing. The function of the protein encoded by the ABCC6 gene was predicted.ResultsThe phenotypes of the patient's parents and son were all normal. Mutation analysis of the ABCC6 gene revealed compound heterozygous mutations c.373G > A (p.E125K) and c.3703C > T (p.R1235W) in the proband, a heterozygous mutation c.3703C > T (p.R1235W) in the proband's mother, and a heterozygous mutation c.373G > A (p.E125K) in the proband's father and son. However, neither of the above mutations was found in the 100 unrelated healthy controls. Interspecific sequence alignment showed that glutamic acid at position 125 and arginine at position 1235 of the protein encoded by the ABCC6 gene were highly evolutionarily conserved. As SIFT and Polyphen-2 softwares showed, the mutations c.373G > A (p.E125K) and c.3703C > T (p.R1235W) were both predicted to be detrimental variations.ConclusionThe compound heterozygous mutations c.373G > A (p.E125K) and c.3703C > T (p.R1235W) in the ABCC6 gene may be responsible for the occurrence of pseudoxanthoma elasticum in this patient.Key words: Pseudoxanthoma elasticum; DNA mutational analysis; Skin manifestations; Heterozygote; Genes, ABCC6" @default.
- W3029073398 created "2020-06-05" @default.
- W3029073398 creator A5017261400 @default.
- W3029073398 creator A5021693890 @default.
- W3029073398 creator A5051900636 @default.
- W3029073398 creator A5052024256 @default.
- W3029073398 creator A5085067804 @default.
- W3029073398 date "2016-12-15" @default.
- W3029073398 modified "2023-10-08" @default.
- W3029073398 title "Mutation analysis of the ABCC6 gene in a patient with pseudoxanthoma elasticum" @default.
- W3029073398 doi "https://doi.org/10.3760/cma.j.issn.0412-4030.2016.12.002" @default.
- W3029073398 hasPublicationYear "2016" @default.
- W3029073398 type Work @default.
- W3029073398 sameAs 3029073398 @default.
- W3029073398 citedByCount "0" @default.
- W3029073398 crossrefType "journal-article" @default.
- W3029073398 hasAuthorship W3029073398A5017261400 @default.
- W3029073398 hasAuthorship W3029073398A5021693890 @default.
- W3029073398 hasAuthorship W3029073398A5051900636 @default.
- W3029073398 hasAuthorship W3029073398A5052024256 @default.
- W3029073398 hasAuthorship W3029073398A5085067804 @default.
- W3029073398 hasConcept C104317684 @default.
- W3029073398 hasConcept C12125453 @default.
- W3029073398 hasConcept C142724271 @default.
- W3029073398 hasConcept C153911025 @default.
- W3029073398 hasConcept C188997412 @default.
- W3029073398 hasConcept C2778028898 @default.
- W3029073398 hasConcept C2994225774 @default.
- W3029073398 hasConcept C36823959 @default.
- W3029073398 hasConcept C501734568 @default.
- W3029073398 hasConcept C54355233 @default.
- W3029073398 hasConcept C71924100 @default.
- W3029073398 hasConcept C86803240 @default.
- W3029073398 hasConceptScore W3029073398C104317684 @default.
- W3029073398 hasConceptScore W3029073398C12125453 @default.
- W3029073398 hasConceptScore W3029073398C142724271 @default.
- W3029073398 hasConceptScore W3029073398C153911025 @default.
- W3029073398 hasConceptScore W3029073398C188997412 @default.
- W3029073398 hasConceptScore W3029073398C2778028898 @default.
- W3029073398 hasConceptScore W3029073398C2994225774 @default.
- W3029073398 hasConceptScore W3029073398C36823959 @default.
- W3029073398 hasConceptScore W3029073398C501734568 @default.
- W3029073398 hasConceptScore W3029073398C54355233 @default.
- W3029073398 hasConceptScore W3029073398C71924100 @default.
- W3029073398 hasConceptScore W3029073398C86803240 @default.
- W3029073398 hasIssue "12" @default.
- W3029073398 hasLocation W30290733981 @default.
- W3029073398 hasOpenAccess W3029073398 @default.
- W3029073398 hasPrimaryLocation W30290733981 @default.
- W3029073398 hasRelatedWork W1990082393 @default.
- W3029073398 hasRelatedWork W2108424573 @default.
- W3029073398 hasRelatedWork W2252798758 @default.
- W3029073398 hasRelatedWork W2363472797 @default.
- W3029073398 hasRelatedWork W2384559138 @default.
- W3029073398 hasRelatedWork W2415095494 @default.
- W3029073398 hasRelatedWork W2415390119 @default.
- W3029073398 hasRelatedWork W2416920726 @default.
- W3029073398 hasRelatedWork W2417530832 @default.
- W3029073398 hasRelatedWork W2892237831 @default.
- W3029073398 hasRelatedWork W2926211224 @default.
- W3029073398 hasRelatedWork W3000329363 @default.
- W3029073398 hasRelatedWork W3024917064 @default.
- W3029073398 hasRelatedWork W3028869163 @default.
- W3029073398 hasRelatedWork W3029593433 @default.
- W3029073398 hasRelatedWork W3030314441 @default.
- W3029073398 hasRelatedWork W3032164203 @default.
- W3029073398 hasRelatedWork W3032484833 @default.
- W3029073398 hasRelatedWork W3032599347 @default.
- W3029073398 hasRelatedWork W3032758942 @default.
- W3029073398 hasVolume "49" @default.
- W3029073398 isParatext "false" @default.
- W3029073398 isRetracted "false" @default.
- W3029073398 magId "3029073398" @default.
- W3029073398 workType "article" @default.