FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4366184458> ?p ?o ?g. }

• W4366184458 abstract "Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. The aim of this study is to present 7 cases with rare dyslipidaemias associated with low LDL or low HDL cholesterol values, referred to our laboratory for the genetic identification of the cause of the dyslipidaemia. Methods: Lipid profile was determined for each individual in an automated equipment Integra Cobas (Roche). Molecular analysis was performed by NGS with a target panel of 57 genes involved in lipid metabolism (Sure select QXT, Agilent) and samples were run in a NextSEQ Sequencer (Illumina). Only genes associated to rare forms of low HDL-c or LDL-c were analysed for this work, namely: ABCA1 , APOA1 , LCAT, SCARB1, APOB, PCSK9, MTTP, SAR1B, and ANGPTL3 . All rare variants (MAF&lt;5%) found in these genes were confirmed by Sanger sequencing. Results and discussion: This study includes 7 index cases (IC), with the following clinical diagnoses: Fish Eye Disease (1), Hypoalphalipoproteinemia (1) and Abetalipoproteinemia (ABL) / Familial Hypobetalipoproteinemia (FHBL) (5). We have identified one IC with a compound heterozygosity in LCAT causing Fish Eye Disease and one IC with a variant in ABCA1 in homozygosity causing Tangier disease. We found variants causing homozygous FHBL in 2 IC, one of whom has an undescribed pathogenic variant in homozygosity in APOB (c.12087+1G&gt;A) and the other is a possible compound heterozygous for APOB variants c.2604+1G&gt;A and c.4651C&gt;T/p.(Gln1551*). In two patients only a variant in heterozygosity (c.3365delG/p.(Gly1122Vfs*62) and c.11095A&gt;T/p.(Arg3699*)). In the remaining patient, no variants were identified. NGS proved to be a fundamental key for genetic testing of rare lipid disorders, allowing us to find the genetic cause of disease in 6/7 patients with low HDL-c and LDL-c. Patients with these rare conditions should be identified as early as possible in order to minimize or prevent clinical manifestations. The unsolved case is still under investigation." @default.
• W4366184458 created "2023-04-19" @default.
• W4366184458 creator A5006377764 @default.
• W4366184458 creator A5017081989 @default.
• W4366184458 creator A5019876105 @default.
• W4366184458 creator A5030896335 @default.
• W4366184458 creator A5032872493 @default.
• W4366184458 creator A5035020002 @default.
• W4366184458 creator A5041743893 @default.
• W4366184458 creator A5044113713 @default.
• W4366184458 creator A5052525275 @default.
• W4366184458 creator A5074403098 @default.
• W4366184458 date "2023-04-17" @default.
• W4366184458 modified "2023-10-17" @default.
• W4366184458 title "Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal" @default.
• W4366184458 cites W1922389415 @default.
• W4366184458 cites W1964590451 @default.
• W4366184458 cites W2003971541 @default.
• W4366184458 cites W2006557858 @default.
• W4366184458 cites W2014813076 @default.
• W4366184458 cites W2017509882 @default.
• W4366184458 cites W2037458235 @default.
• W4366184458 cites W2042381594 @default.
• W4366184458 cites W2051978340 @default.
• W4366184458 cites W2067539811 @default.
• W4366184458 cites W2096327359 @default.
• W4366184458 cites W2110975556 @default.
• W4366184458 cites W2113547573 @default.
• W4366184458 cites W2120514134 @default.
• W4366184458 cites W2137333351 @default.
• W4366184458 cites W2181553438 @default.
• W4366184458 cites W2225287204 @default.
• W4366184458 cites W2334520207 @default.
• W4366184458 cites W2472741025 @default.
• W4366184458 cites W2514119365 @default.
• W4366184458 cites W2625559053 @default.
• W4366184458 cites W2729200831 @default.
• W4366184458 cites W2762638728 @default.
• W4366184458 cites W2765954021 @default.
• W4366184458 cites W2792265076 @default.
• W4366184458 cites W2901438563 @default.
• W4366184458 cites W2908689778 @default.
• W4366184458 cites W2912491890 @default.
• W4366184458 cites W2919587539 @default.
• W4366184458 cites W2972547863 @default.
• W4366184458 cites W2978430228 @default.
• W4366184458 cites W3091330129 @default.
• W4366184458 cites W400686290 @default.
• W4366184458 cites W4238536534 @default.
• W4366184458 doi "https://doi.org/10.3389/fgene.2022.1088040" @default.
• W4366184458 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37138899" @default.
• W4366184458 hasPublicationYear "2023" @default.
• W4366184458 type Work @default.
• W4366184458 citedByCount "0" @default.
• W4366184458 crossrefType "journal-article" @default.
• W4366184458 hasAuthorship W4366184458A5006377764 @default.
• W4366184458 hasAuthorship W4366184458A5017081989 @default.
• W4366184458 hasAuthorship W4366184458A5019876105 @default.
• W4366184458 hasAuthorship W4366184458A5030896335 @default.
• W4366184458 hasAuthorship W4366184458A5032872493 @default.
• W4366184458 hasAuthorship W4366184458A5035020002 @default.
• W4366184458 hasAuthorship W4366184458A5041743893 @default.
• W4366184458 hasAuthorship W4366184458A5044113713 @default.
• W4366184458 hasAuthorship W4366184458A5052525275 @default.
• W4366184458 hasAuthorship W4366184458A5074403098 @default.
• W4366184458 hasBestOaLocation W43661844581 @default.
• W4366184458 hasConcept C104317684 @default.
• W4366184458 hasConcept C126322002 @default.
• W4366184458 hasConcept C134018914 @default.
• W4366184458 hasConcept C149011108 @default.
• W4366184458 hasConcept C2777704780 @default.
• W4366184458 hasConcept C2778163477 @default.
• W4366184458 hasConcept C2779982054 @default.
• W4366184458 hasConcept C54355233 @default.
• W4366184458 hasConcept C62746215 @default.
• W4366184458 hasConcept C71924100 @default.
• W4366184458 hasConcept C86803240 @default.
• W4366184458 hasConceptScore W4366184458C104317684 @default.
• W4366184458 hasConceptScore W4366184458C126322002 @default.
• W4366184458 hasConceptScore W4366184458C134018914 @default.
• W4366184458 hasConceptScore W4366184458C149011108 @default.
• W4366184458 hasConceptScore W4366184458C2777704780 @default.
• W4366184458 hasConceptScore W4366184458C2778163477 @default.
• W4366184458 hasConceptScore W4366184458C2779982054 @default.
• W4366184458 hasConceptScore W4366184458C54355233 @default.
• W4366184458 hasConceptScore W4366184458C62746215 @default.
• W4366184458 hasConceptScore W4366184458C71924100 @default.
• W4366184458 hasConceptScore W4366184458C86803240 @default.
• W4366184458 hasLocation W43661844581 @default.
• W4366184458 hasLocation W43661844582 @default.
• W4366184458 hasLocation W43661844583 @default.
• W4366184458 hasLocation W43661844584 @default.
• W4366184458 hasOpenAccess W4366184458 @default.
• W4366184458 hasPrimaryLocation W43661844581 @default.
• W4366184458 hasRelatedWork W1973478111 @default.
• W4366184458 hasRelatedWork W2053365325 @default.
• W4366184458 hasRelatedWork W2085997836 @default.
• W4366184458 hasRelatedWork W2116775019 @default.
• W4366184458 hasRelatedWork W2129077731 @default.
• W4366184458 hasRelatedWork W2189552099 @default.

• next