FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1538996896> ?p ?o ?g. }

• W1538996896 endingPage "196" @default.
• W1538996896 startingPage "185" @default.
• W1538996896 abstract "Abstract. Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Péterfy M, Kastelein JJP, Johansen CT, Hegele RA, Stroes ESG, Dallinga‐Thie GM (Academic Medical Center, Amsterdam, the Netherlands; Robarts Research Institute, University of Western Ontario, London, Ontario, Canada; UCLA, University of California; Medical Genetics Institute, Cedars‐Sinai Medical Center, Los Angeles, CA, USA). Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med 2012; 272 : 185–196. Objectives. The severe forms of hypertriglyceridaemia (HTG) are caused by mutations in genes that lead to the loss of function of lipoprotein lipase (LPL). In most patients with severe HTG (TG > 10 mmol L −1 ), it is a challenge to define the underlying cause. We investigated the molecular basis of severe HTG in patients referred to the Lipid Clinic at the Academic Medical Center Amsterdam. Methods. The coding regions of LPL , APOC2 , APOA5 and two novel genes, lipase maturation factor 1 ( LMF1 ) and GPI‐anchored high‐density lipoprotein (HDL)‐binding protein 1 ( GPIHBP1 ), were sequenced in 86 patients with type 1 and type 5 HTG and 327 controls. Results. In 46 patients (54%), rare DNA sequence variants were identified, comprising variants in LPL ( n = 19), APOC2 ( n = 1), APOA5 ( n = 2), GPIHBP1 ( n = 3) and LMF1 ( n = 8). In 22 patients (26%), only common variants in LPL (p.Asp36Asn, p.Asn318Ser and p.Ser474Ter) and APOA5 (p.Ser19Trp) could be identified, whereas no mutations were found in 18 patients (21%) . In vitro validation revealed that the mutations in LMF1 were not associated with compromised LPL function. Consistent with this, five of the eight LMF1 variants were also found in controls and therefore cannot account for the observed phenotype. Conclusions. The prevalence of mutations in LPL was 34% and mostly restricted to patients with type 1 HTG. Mutations in GPIHBP1 ( n = 3), APOC2 ( n = 1) and APOA5 ( n = 2) were rare but the associated clinical phenotype was severe. Routine sequencing of candidate genes in severe HTG has improved our understanding of the molecular basis of this phenotype associated with acute pancreatitis and may help to guide future individualized therapeutic strategies." @default.
• W1538996896 created "2016-06-24" @default.
• W1538996896 creator A5013598309 @default.
• W1538996896 creator A5014444096 @default.
• W1538996896 creator A5018071189 @default.
• W1538996896 creator A5031366007 @default.
• W1538996896 creator A5035358062 @default.
• W1538996896 creator A5047023747 @default.
• W1538996896 creator A5052713620 @default.
• W1538996896 creator A5057515797 @default.
• W1538996896 creator A5060583173 @default.
• W1538996896 creator A5067704164 @default.
• W1538996896 creator A5074642861 @default.
• W1538996896 creator A5074645026 @default.
• W1538996896 creator A5077848934 @default.
• W1538996896 creator A5086185353 @default.
• W1538996896 date "2012-02-13" @default.
• W1538996896 modified "2023-10-16" @default.
• W1538996896 title "Mutations in<i>LPL</i>,<i>APOC2</i>,<i>APOA5</i>,<i>GPIHBP1</i>and<i>LMF1</i>in patients with severe hypertriglyceridaemia" @default.
• W1538996896 cites W1482300355 @default.
• W1538996896 cites W1494345508 @default.
• W1538996896 cites W1584226993 @default.
• W1538996896 cites W1839155357 @default.
• W1538996896 cites W1964299971 @default.
• W1538996896 cites W1968856381 @default.
• W1538996896 cites W1977231863 @default.
• W1538996896 cites W1982250241 @default.
• W1538996896 cites W1984259997 @default.
• W1538996896 cites W1990139391 @default.
• W1538996896 cites W1992489448 @default.
• W1538996896 cites W2009321867 @default.
• W1538996896 cites W2017234746 @default.
• W1538996896 cites W2020548983 @default.
• W1538996896 cites W2022942222 @default.
• W1538996896 cites W2036747551 @default.
• W1538996896 cites W2040981503 @default.
• W1538996896 cites W2045832599 @default.
• W1538996896 cites W2046730124 @default.
• W1538996896 cites W2055194080 @default.
• W1538996896 cites W2059960371 @default.
• W1538996896 cites W2063780291 @default.
• W1538996896 cites W2072967808 @default.
• W1538996896 cites W2075874339 @default.
• W1538996896 cites W2080036080 @default.
• W1538996896 cites W2089666854 @default.
• W1538996896 cites W2094162310 @default.
• W1538996896 cites W2094317372 @default.
• W1538996896 cites W2101002597 @default.
• W1538996896 cites W2104403055 @default.
• W1538996896 cites W2112343871 @default.
• W1538996896 cites W2122122860 @default.
• W1538996896 cites W2122257015 @default.
• W1538996896 cites W2122475146 @default.
• W1538996896 cites W2135142672 @default.
• W1538996896 cites W2145127625 @default.
• W1538996896 cites W2145856453 @default.
• W1538996896 cites W2147290434 @default.
• W1538996896 cites W2149487645 @default.
• W1538996896 cites W2150779000 @default.
• W1538996896 cites W2154326493 @default.
• W1538996896 cites W2160938004 @default.
• W1538996896 cites W2162588312 @default.
• W1538996896 cites W2167666811 @default.
• W1538996896 cites W2168084616 @default.
• W1538996896 cites W2412390264 @default.
• W1538996896 doi "https://doi.org/10.1111/j.1365-2796.2012.02516.x" @default.
• W1538996896 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3940136" @default.
• W1538996896 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22239554" @default.
• W1538996896 hasPublicationYear "2012" @default.
• W1538996896 type Work @default.
• W1538996896 sameAs 1538996896 @default.
• W1538996896 citedByCount "189" @default.
• W1538996896 countsByYear W15389968962012 @default.
• W1538996896 countsByYear W15389968962013 @default.
• W1538996896 countsByYear W15389968962014 @default.
• W1538996896 countsByYear W15389968962015 @default.
• W1538996896 countsByYear W15389968962016 @default.
• W1538996896 countsByYear W15389968962017 @default.
• W1538996896 countsByYear W15389968962018 @default.
• W1538996896 countsByYear W15389968962019 @default.
• W1538996896 countsByYear W15389968962020 @default.
• W1538996896 countsByYear W15389968962021 @default.
• W1538996896 countsByYear W15389968962022 @default.
• W1538996896 countsByYear W15389968962023 @default.
• W1538996896 crossrefType "journal-article" @default.
• W1538996896 hasAuthorship W1538996896A5013598309 @default.
• W1538996896 hasAuthorship W1538996896A5014444096 @default.
• W1538996896 hasAuthorship W1538996896A5018071189 @default.
• W1538996896 hasAuthorship W1538996896A5031366007 @default.
• W1538996896 hasAuthorship W1538996896A5035358062 @default.
• W1538996896 hasAuthorship W1538996896A5047023747 @default.
• W1538996896 hasAuthorship W1538996896A5052713620 @default.
• W1538996896 hasAuthorship W1538996896A5057515797 @default.
• W1538996896 hasAuthorship W1538996896A5060583173 @default.
• W1538996896 hasAuthorship W1538996896A5067704164 @default.
• W1538996896 hasAuthorship W1538996896A5074642861 @default.
• W1538996896 hasAuthorship W1538996896A5074645026 @default.
• W1538996896 hasAuthorship W1538996896A5077848934 @default.

• next