FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1570578677> ?p ?o ?g. }

• W1570578677 endingPage "288" @default.
• W1570578677 startingPage "282" @default.
• W1570578677 abstract "Dilated cardiomyopathy (DCM) represents the most prevalent form of primary cardiomyopathy, and is the most common reason for heart transplantation and a major cause of congestive heart failure. Aggregating evidence demonstrates that genetic defects are associated with DCM, and a great number of mutations in >50 genes have been linked to DCM. However, DCM is a genetically heterogeneous disorder and the genetic components underpinning DCM in a significant proportion of patients remain unknown. In the present study, the coding exons and flanking exon‑intron boundaries of the T-Box 5 (TBX5) gene, which encodes a T‑box transcription factor required for normal cardiac development, were sequenced in 146 unrelated patients with sporadic DCM. The functional characteristics of the mutant TBX5 were assayed in contrast to its wild‑type counterpart by using a dual‑luciferase reporter assay system. As a result, a novel heterozygous TBX5 mutation, p.A143T, was identified in a patient with sporadic DCM. The missense mutation, which was absent in 400 control chromosomes, altered the amino acid that was completely conserved evolutionarily among species. Biological analyses revealed that the A143T mutation of TBX5 was associated with significantly decreased transcriptional activity on the promoter of the target gene atrial natriuretic factor (ANF), when compared to its wild‑type counterpart. Furthermore, the A143T mutation abolished the synergistic activation of the ANF promoter between TBX5 and GATA binding protein 4 (GATA4), another crucial transcriptional factor for heart development. To the best of our knowledge, this is the first report on the association of a TBX5 loss‑of‑function mutation with an enhanced susceptibility to sporadic DCM, providing novel insight into the molecular mechanisms of the pathogenesis of DCM and suggesting potential implications for the prenatal prophylaxis and personalized treatment of this commonest primary myocardial disease." @default.
• W1570578677 created "2016-06-24" @default.
• W1570578677 creator A5008057183 @default.
• W1570578677 creator A5017298347 @default.
• W1570578677 creator A5037886261 @default.
• W1570578677 creator A5054804924 @default.
• W1570578677 creator A5067595969 @default.
• W1570578677 creator A5073035665 @default.
• W1570578677 date "2015-05-11" @default.
• W1570578677 modified "2023-10-17" @default.
• W1570578677 title "A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy" @default.
• W1570578677 cites W1489130191 @default.
• W1570578677 cites W1597246968 @default.
• W1570578677 cites W1602684793 @default.
• W1570578677 cites W1878240916 @default.
• W1570578677 cites W1965682484 @default.
• W1570578677 cites W1973431915 @default.
• W1570578677 cites W1976209171 @default.
• W1570578677 cites W1976302894 @default.
• W1570578677 cites W1984059067 @default.
• W1570578677 cites W1987919349 @default.
• W1570578677 cites W1989457690 @default.
• W1570578677 cites W1991507611 @default.
• W1570578677 cites W1995633985 @default.
• W1570578677 cites W1997271589 @default.
• W1570578677 cites W2000533326 @default.
• W1570578677 cites W2011112539 @default.
• W1570578677 cites W2011541662 @default.
• W1570578677 cites W2013811753 @default.
• W1570578677 cites W2015213635 @default.
• W1570578677 cites W2016034885 @default.
• W1570578677 cites W2022233878 @default.
• W1570578677 cites W2023317230 @default.
• W1570578677 cites W2023531589 @default.
• W1570578677 cites W2023538745 @default.
• W1570578677 cites W2030358491 @default.
• W1570578677 cites W2030639394 @default.
• W1570578677 cites W2035459272 @default.
• W1570578677 cites W2036768270 @default.
• W1570578677 cites W2037841257 @default.
• W1570578677 cites W2040686597 @default.
• W1570578677 cites W2040866440 @default.
• W1570578677 cites W2045368367 @default.
• W1570578677 cites W2045998016 @default.
• W1570578677 cites W2053024599 @default.
• W1570578677 cites W2053869099 @default.
• W1570578677 cites W2054913890 @default.
• W1570578677 cites W2055984563 @default.
• W1570578677 cites W2057896754 @default.
• W1570578677 cites W2058806842 @default.
• W1570578677 cites W2060061733 @default.
• W1570578677 cites W2060835874 @default.
• W1570578677 cites W2061884629 @default.
• W1570578677 cites W2063512604 @default.
• W1570578677 cites W2065411420 @default.
• W1570578677 cites W2066695771 @default.
• W1570578677 cites W2070135723 @default.
• W1570578677 cites W2074866999 @default.
• W1570578677 cites W2075419339 @default.
• W1570578677 cites W2076051100 @default.
• W1570578677 cites W2076532964 @default.
• W1570578677 cites W2083524331 @default.
• W1570578677 cites W2085826645 @default.
• W1570578677 cites W2093232151 @default.
• W1570578677 cites W2110877055 @default.
• W1570578677 cites W2126324117 @default.
• W1570578677 cites W2131266444 @default.
• W1570578677 cites W2138094453 @default.
• W1570578677 cites W2147351679 @default.
• W1570578677 cites W2147543192 @default.
• W1570578677 cites W2151507113 @default.
• W1570578677 cites W2170095847 @default.
• W1570578677 cites W2316870109 @default.
• W1570578677 cites W2318201098 @default.
• W1570578677 cites W2332332848 @default.
• W1570578677 cites W2807963669 @default.
• W1570578677 cites W4245289631 @default.
• W1570578677 doi "https://doi.org/10.3892/ijmm.2015.2206" @default.
• W1570578677 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25963046" @default.
• W1570578677 hasPublicationYear "2015" @default.
• W1570578677 type Work @default.
• W1570578677 sameAs 1570578677 @default.
• W1570578677 citedByCount "29" @default.
• W1570578677 countsByYear W15705786772015 @default.
• W1570578677 countsByYear W15705786772016 @default.
• W1570578677 countsByYear W15705786772017 @default.
• W1570578677 countsByYear W15705786772018 @default.
• W1570578677 countsByYear W15705786772019 @default.
• W1570578677 countsByYear W15705786772020 @default.
• W1570578677 countsByYear W15705786772021 @default.
• W1570578677 countsByYear W15705786772022 @default.
• W1570578677 crossrefType "journal-article" @default.
• W1570578677 hasAuthorship W1570578677A5008057183 @default.
• W1570578677 hasAuthorship W1570578677A5017298347 @default.
• W1570578677 hasAuthorship W1570578677A5037886261 @default.
• W1570578677 hasAuthorship W1570578677A5054804924 @default.
• W1570578677 hasAuthorship W1570578677A5067595969 @default.
• W1570578677 hasAuthorship W1570578677A5073035665 @default.

• next