FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3132236220> ?p ?o ?g. }

• W3132236220 abstract "Abstract Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often nonspecific and overlapping with other disorders. Clinical genetic testing by Southern blot or triplet‐primed PCR (TP‐PCR) is technically challenging and cost prohibitive for population surveys. Methods Here, we present a high throughput, low‐cost screening tool for CTG repeat expansions using TP‐PCR followed by high resolution melt curve analysis with saturating concentrations of SYBR GreenER dye. Results We determined that multimodal melt profiles from the TP‐PCR assay are a proxy for amplicon length stoichiometry. In a screen of 10,097 newborn blood spots, melt profile analysis accurately reflected the tri‐modal distribution of common alleles from 5 to 35 CTG repeats, and identified the premutation and full expansion alleles. Conclusion We demonstrate that robust detection of expanded CTG repeats in a single tube can be achieved from samples derived from specimens with minimal template DNA such as dried blood spots (DBS). This technique is readily adaptable to large‐scale testing programs such as population studies and newborn screening programs." @default.
• W3132236220 created "2021-03-01" @default.
• W3132236220 creator A5013098751 @default.
• W3132236220 creator A5015719768 @default.
• W3132236220 creator A5021724364 @default.
• W3132236220 creator A5042651482 @default.
• W3132236220 creator A5056120626 @default.
• W3132236220 creator A5063362332 @default.
• W3132236220 creator A5068026059 @default.
• W3132236220 creator A5078124509 @default.
• W3132236220 creator A5086564211 @default.
• W3132236220 date "2021-02-24" @default.
• W3132236220 modified "2023-10-16" @default.
• W3132236220 title "High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis" @default.
• W3132236220 cites W1971507786 @default.
• W3132236220 cites W1973317443 @default.
• W3132236220 cites W1994095085 @default.
• W3132236220 cites W1995673028 @default.
• W3132236220 cites W2027733895 @default.
• W3132236220 cites W2048359227 @default.
• W3132236220 cites W2052369671 @default.
• W3132236220 cites W2084703547 @default.
• W3132236220 cites W2088045333 @default.
• W3132236220 cites W2109436341 @default.
• W3132236220 cites W2125777126 @default.
• W3132236220 cites W2126784042 @default.
• W3132236220 cites W2153621466 @default.
• W3132236220 cites W2154920982 @default.
• W3132236220 cites W2162368266 @default.
• W3132236220 cites W2166118324 @default.
• W3132236220 cites W2243973145 @default.
• W3132236220 cites W2408257228 @default.
• W3132236220 cites W2522502550 @default.
• W3132236220 cites W2556397792 @default.
• W3132236220 cites W2561538752 @default.
• W3132236220 cites W2582466564 @default.
• W3132236220 cites W2729455050 @default.
• W3132236220 cites W2736123266 @default.
• W3132236220 cites W2758877381 @default.
• W3132236220 cites W2765283293 @default.
• W3132236220 cites W2884037444 @default.
• W3132236220 cites W2886831202 @default.
• W3132236220 cites W2903255323 @default.
• W3132236220 cites W2948513810 @default.
• W3132236220 cites W2968617726 @default.
• W3132236220 cites W2980655113 @default.
• W3132236220 cites W2987322729 @default.
• W3132236220 doi "https://doi.org/10.1002/mgg3.1619" @default.
• W3132236220 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8123750" @default.
• W3132236220 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33624941" @default.
• W3132236220 hasPublicationYear "2021" @default.
• W3132236220 type Work @default.
• W3132236220 sameAs 3132236220 @default.
• W3132236220 citedByCount "3" @default.
• W3132236220 countsByYear W31322362202021 @default.
• W3132236220 countsByYear W31322362202022 @default.
• W3132236220 countsByYear W31322362202023 @default.
• W3132236220 crossrefType "journal-article" @default.
• W3132236220 hasAuthorship W3132236220A5013098751 @default.
• W3132236220 hasAuthorship W3132236220A5015719768 @default.
• W3132236220 hasAuthorship W3132236220A5021724364 @default.
• W3132236220 hasAuthorship W3132236220A5042651482 @default.
• W3132236220 hasAuthorship W3132236220A5056120626 @default.
• W3132236220 hasAuthorship W3132236220A5063362332 @default.
• W3132236220 hasAuthorship W3132236220A5068026059 @default.
• W3132236220 hasAuthorship W3132236220A5078124509 @default.
• W3132236220 hasAuthorship W3132236220A5086564211 @default.
• W3132236220 hasBestOaLocation W31322362201 @default.
• W3132236220 hasConcept C104317684 @default.
• W3132236220 hasConcept C153911025 @default.
• W3132236220 hasConcept C166252455 @default.
• W3132236220 hasConcept C180754005 @default.
• W3132236220 hasConcept C2778063965 @default.
• W3132236220 hasConcept C2908647359 @default.
• W3132236220 hasConcept C49105822 @default.
• W3132236220 hasConcept C54355233 @default.
• W3132236220 hasConcept C61320498 @default.
• W3132236220 hasConcept C71924100 @default.
• W3132236220 hasConcept C8185291 @default.
• W3132236220 hasConcept C86803240 @default.
• W3132236220 hasConcept C99454951 @default.
• W3132236220 hasConceptScore W3132236220C104317684 @default.
• W3132236220 hasConceptScore W3132236220C153911025 @default.
• W3132236220 hasConceptScore W3132236220C166252455 @default.
• W3132236220 hasConceptScore W3132236220C180754005 @default.
• W3132236220 hasConceptScore W3132236220C2778063965 @default.
• W3132236220 hasConceptScore W3132236220C2908647359 @default.
• W3132236220 hasConceptScore W3132236220C49105822 @default.
• W3132236220 hasConceptScore W3132236220C54355233 @default.
• W3132236220 hasConceptScore W3132236220C61320498 @default.
• W3132236220 hasConceptScore W3132236220C71924100 @default.
• W3132236220 hasConceptScore W3132236220C8185291 @default.
• W3132236220 hasConceptScore W3132236220C86803240 @default.
• W3132236220 hasConceptScore W3132236220C99454951 @default.
• W3132236220 hasFunder F4320307645 @default.
• W3132236220 hasFunder F4320337359 @default.
• W3132236220 hasIssue "4" @default.
• W3132236220 hasLocation W31322362201 @default.
• W3132236220 hasLocation W31322362202 @default.
• W3132236220 hasLocation W31322362203 @default.

• next