FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2080400903> ?p ?o ?g. }

• W2080400903 endingPage "1066" @default.
• W2080400903 startingPage "1060" @default.
• W2080400903 abstract "Metabolic syndrome (MS) is a complex disorder characterized by a group of metabolic abnormalities. In the present study, the case of an 18‑year‑old male who presented with MS characteristics with central obesity (overweight and a waist circumference of 95 cm) and dyslipidemia (high TG, low HDL levels and low apoA‑I/apoB‑100) was reported. The patient's family has maternally inherited diabetes and a number of the patient's maternal relatives present MS features. For the investigation of the mitochondrial DNA variants in the patient and the patient's family, genomic DNA of all the family members were extracted from peripheral blood using routine methods. Amplification of mitochondrial DNA in 24 overlapping fragments by PCR, direct sequencing and denaturing high‑performance liquid chromatography was utilized for genetic analysis. Sequences were compared to the reference sequence to identify variants. Bioinformatic methods and databases were used to analyze conservation of the variants and to predict the protein secondary structure. With the exception of the patient, five relatives were diagnosed with MS. Moreover, 5 of the 8 family members had been diagnosed with diabetes, hearing loss and mild kidney impairment according to serum biochemical analysis. Further molecular genetic analysis indicated that the MS‑associated variant T16189C was detected in this family. Notably, a heteroplasmic mutation A8890G was detected in the patient in the mitochondrial ATP6 gene, which codes the ATP synthase subunit 6 (ATPase6). A8890G changed the highly conserved ATPase6 Lys122 into Glu122 in the mitochondrial inner membrane. However, this mutation was not detected in other family members. In conclusion, the mutation A8890G may affect the function of ATPase 6 and the production of ATP, thus contributing to juvenile‑onset MS. It was not detected in other family members possibly due to the mitochondrial genetic segregation or production of a new germline mutation in the juvenile‑onset patient." @default.
• W2080400903 created "2016-06-24" @default.
• W2080400903 creator A5024986601 @default.
• W2080400903 creator A5066889912 @default.
• W2080400903 creator A5080792207 @default.
• W2080400903 creator A5081676218 @default.
• W2080400903 date "2013-08-06" @default.
• W2080400903 modified "2023-10-14" @default.
• W2080400903 title "A novel heteroplasmic mitochondrial DNA mutation, A8890G, in a patient with juvenile-onset metabolic syndrome: A case report" @default.
• W2080400903 cites W1650754258 @default.
• W2080400903 cites W1925459337 @default.
• W2080400903 cites W1950253279 @default.
• W2080400903 cites W1964051078 @default.
• W2080400903 cites W1968493182 @default.
• W2080400903 cites W1970494913 @default.
• W2080400903 cites W1971123820 @default.
• W2080400903 cites W1971174787 @default.
• W2080400903 cites W1975396627 @default.
• W2080400903 cites W1983297804 @default.
• W2080400903 cites W1988276497 @default.
• W2080400903 cites W2008283534 @default.
• W2080400903 cites W2016254652 @default.
• W2080400903 cites W2018330219 @default.
• W2080400903 cites W2036267091 @default.
• W2080400903 cites W2037204981 @default.
• W2080400903 cites W2045078992 @default.
• W2080400903 cites W2053478411 @default.
• W2080400903 cites W2059639837 @default.
• W2080400903 cites W2059798983 @default.
• W2080400903 cites W2062926010 @default.
• W2080400903 cites W2063696414 @default.
• W2080400903 cites W2064422331 @default.
• W2080400903 cites W2069098047 @default.
• W2080400903 cites W2075835114 @default.
• W2080400903 cites W2088606088 @default.
• W2080400903 cites W2093282886 @default.
• W2080400903 cites W2101260083 @default.
• W2080400903 cites W2106464604 @default.
• W2080400903 cites W2107732097 @default.
• W2080400903 cites W2109291482 @default.
• W2080400903 cites W2114814810 @default.
• W2080400903 cites W2124207622 @default.
• W2080400903 cites W2144675621 @default.
• W2080400903 cites W2155010384 @default.
• W2080400903 cites W2162135801 @default.
• W2080400903 cites W2163405837 @default.
• W2080400903 cites W4317707738 @default.
• W2080400903 doi "https://doi.org/10.3892/mmr.2013.1616" @default.
• W2080400903 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23921547" @default.
• W2080400903 hasPublicationYear "2013" @default.
• W2080400903 type Work @default.
• W2080400903 sameAs 2080400903 @default.
• W2080400903 citedByCount "11" @default.
• W2080400903 countsByYear W20804009032015 @default.
• W2080400903 countsByYear W20804009032017 @default.
• W2080400903 countsByYear W20804009032018 @default.
• W2080400903 countsByYear W20804009032019 @default.
• W2080400903 countsByYear W20804009032020 @default.
• W2080400903 countsByYear W20804009032022 @default.
• W2080400903 countsByYear W20804009032023 @default.
• W2080400903 crossrefType "journal-article" @default.
• W2080400903 hasAuthorship W2080400903A5024986601 @default.
• W2080400903 hasAuthorship W2080400903A5066889912 @default.
• W2080400903 hasAuthorship W2080400903A5080792207 @default.
• W2080400903 hasAuthorship W2080400903A5081676218 @default.
• W2080400903 hasBestOaLocation W20804009031 @default.
• W2080400903 hasConcept C104317684 @default.
• W2080400903 hasConcept C181561989 @default.
• W2080400903 hasConcept C24586158 @default.
• W2080400903 hasConcept C501734568 @default.
• W2080400903 hasConcept C54355233 @default.
• W2080400903 hasConcept C86803240 @default.
• W2080400903 hasConceptScore W2080400903C104317684 @default.
• W2080400903 hasConceptScore W2080400903C181561989 @default.
• W2080400903 hasConceptScore W2080400903C24586158 @default.
• W2080400903 hasConceptScore W2080400903C501734568 @default.
• W2080400903 hasConceptScore W2080400903C54355233 @default.
• W2080400903 hasConceptScore W2080400903C86803240 @default.
• W2080400903 hasIssue "4" @default.
• W2080400903 hasLocation W20804009031 @default.
• W2080400903 hasLocation W20804009032 @default.
• W2080400903 hasOpenAccess W2080400903 @default.
• W2080400903 hasPrimaryLocation W20804009031 @default.
• W2080400903 hasRelatedWork W2070231746 @default.
• W2080400903 hasRelatedWork W2111175944 @default.
• W2080400903 hasRelatedWork W2111976489 @default.
• W2080400903 hasRelatedWork W2115003961 @default.
• W2080400903 hasRelatedWork W2141451746 @default.
• W2080400903 hasRelatedWork W2149600853 @default.
• W2080400903 hasRelatedWork W2407126217 @default.
• W2080400903 hasRelatedWork W3198736242 @default.
• W2080400903 hasRelatedWork W4237773376 @default.
• W2080400903 hasRelatedWork W4281561929 @default.
• W2080400903 hasVolume "8" @default.
• W2080400903 isParatext "false" @default.
• W2080400903 isRetracted "false" @default.
• W2080400903 magId "2080400903" @default.
• W2080400903 workType "article" @default.