FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W10393762> ?p ?o ?g. }

• W10393762 endingPage "47" @default.
• W10393762 startingPage "40" @default.
• W10393762 abstract "The aim of this study was to investigate, in a set of 93 mutation-negative long QT syndrome (LQTS) probands, the frequency of copy number variants (CNVs) in LQTS genes.LQTS is an inherited cardiac arrhythmia characterized by a prolonged heart rate-corrected QT (QTc) interval associated with sudden cardiac death. Recent studies suggested the involvement of duplications or deletions in the occurrence of LQTS. However, their frequency remains unknown in LQTS patients.Point mutations in KCNQ1, KCNH2, and SCN5A genes were excluded by denaturing high-performance liquid chromatography or direct sequencing. We applied Multiplex Ligation-dependent Probe Amplification (MLPA) to detect CNVs in exons of these 3 genes. Abnormal exon copy numbers were confirmed by quantitative multiplex PCR of short fluorescent fragment (QMPSF). Array-based comparative genomic hybridization (array CGH) analysis was performed using Agilent Human Genome 244K Microarrays to further map the genomic rearrangements.We identified 3 different deletions in 3 unrelated families: 1 in KCNQ1 and 2 involving KCNH2. We showed in the largest family that the deletion involving KCNH2 is fully penetrant and segregates with the long QT phenotype in 7 affected members.Our study demonstrates that CNVs in KCNQ1 and KCNH2 explain around 3% of LQTS in patients with no point mutation in these genes. This percentage is likely higher than the frequency of point mutations in ANKB, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, and SNTA1 together. Thus, we propose that CNV screening in KCNQ1 and KCNH2 may be performed routinely in LQTS patients." @default.
• W10393762 created "2016-06-24" @default.
• W10393762 creator A5001760407 @default.
• W10393762 creator A5001969191 @default.
• W10393762 creator A5028957773 @default.
• W10393762 creator A5031579548 @default.
• W10393762 creator A5033176863 @default.
• W10393762 creator A5034392769 @default.
• W10393762 creator A5035850931 @default.
• W10393762 creator A5041253450 @default.
• W10393762 creator A5048324485 @default.
• W10393762 creator A5063719536 @default.
• W10393762 creator A5082072253 @default.
• W10393762 creator A5086453139 @default.
• W10393762 creator A5087779516 @default.
• W10393762 date "2011-01-01" @default.
• W10393762 modified "2023-10-16" @default.
• W10393762 title "Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome" @default.
• W10393762 cites W1973522972 @default.
• W10393762 cites W1980463871 @default.
• W10393762 cites W1990470391 @default.
• W10393762 cites W1991662012 @default.
• W10393762 cites W1996889313 @default.
• W10393762 cites W2008125074 @default.
• W10393762 cites W2010302358 @default.
• W10393762 cites W2010349522 @default.
• W10393762 cites W2015087800 @default.
• W10393762 cites W2019973925 @default.
• W10393762 cites W2024354411 @default.
• W10393762 cites W2034867162 @default.
• W10393762 cites W2036828279 @default.
• W10393762 cites W2039021768 @default.
• W10393762 cites W2040158277 @default.
• W10393762 cites W2055012964 @default.
• W10393762 cites W2065288202 @default.
• W10393762 cites W2067320779 @default.
• W10393762 cites W2072329540 @default.
• W10393762 cites W2074705578 @default.
• W10393762 cites W2081072082 @default.
• W10393762 cites W2081529440 @default.
• W10393762 cites W2090894083 @default.
• W10393762 cites W2114460071 @default.
• W10393762 cites W2115923216 @default.
• W10393762 cites W2124865340 @default.
• W10393762 cites W2129910735 @default.
• W10393762 cites W2138773108 @default.
• W10393762 cites W2144423360 @default.
• W10393762 cites W2151361417 @default.
• W10393762 cites W2155707112 @default.
• W10393762 cites W2157788198 @default.
• W10393762 doi "https://doi.org/10.1016/j.jacc.2010.08.621" @default.
• W10393762 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21185499" @default.
• W10393762 hasPublicationYear "2011" @default.
• W10393762 type Work @default.
• W10393762 sameAs 10393762 @default.
• W10393762 citedByCount "71" @default.
• W10393762 countsByYear W103937622012 @default.
• W10393762 countsByYear W103937622013 @default.
• W10393762 countsByYear W103937622014 @default.
• W10393762 countsByYear W103937622015 @default.
• W10393762 countsByYear W103937622016 @default.
• W10393762 countsByYear W103937622017 @default.
• W10393762 countsByYear W103937622018 @default.
• W10393762 countsByYear W103937622019 @default.
• W10393762 countsByYear W103937622020 @default.
• W10393762 countsByYear W103937622021 @default.
• W10393762 countsByYear W103937622022 @default.
• W10393762 crossrefType "journal-article" @default.
• W10393762 hasAuthorship W10393762A5001760407 @default.
• W10393762 hasAuthorship W10393762A5001969191 @default.
• W10393762 hasAuthorship W10393762A5028957773 @default.
• W10393762 hasAuthorship W10393762A5031579548 @default.
• W10393762 hasAuthorship W10393762A5033176863 @default.
• W10393762 hasAuthorship W10393762A5034392769 @default.
• W10393762 hasAuthorship W10393762A5035850931 @default.
• W10393762 hasAuthorship W10393762A5041253450 @default.
• W10393762 hasAuthorship W10393762A5048324485 @default.
• W10393762 hasAuthorship W10393762A5063719536 @default.
• W10393762 hasAuthorship W10393762A5082072253 @default.
• W10393762 hasAuthorship W10393762A5086453139 @default.
• W10393762 hasAuthorship W10393762A5087779516 @default.
• W10393762 hasBestOaLocation W103937621 @default.
• W10393762 hasConcept C104317684 @default.
• W10393762 hasConcept C118441451 @default.
• W10393762 hasConcept C120599132 @default.
• W10393762 hasConcept C120821319 @default.
• W10393762 hasConcept C124942203 @default.
• W10393762 hasConcept C126322002 @default.
• W10393762 hasConcept C141231307 @default.
• W10393762 hasConcept C176944494 @default.
• W10393762 hasConcept C188997412 @default.
• W10393762 hasConcept C2779703243 @default.
• W10393762 hasConcept C36823959 @default.
• W10393762 hasConcept C501734568 @default.
• W10393762 hasConcept C54355233 @default.
• W10393762 hasConcept C71924100 @default.
• W10393762 hasConcept C86803240 @default.
• W10393762 hasConceptScore W10393762C104317684 @default.

• next