Matches in SemOpenAlex for { <https://semopenalex.org/work/W2010825854> ?p ?o ?g. }
Showing items 1 to 66 of
66
with 100 items per page.
- W2010825854 endingPage "1775" @default.
- W2010825854 startingPage "1775" @default.
- W2010825854 abstract "We identified a premature chain termination mutation in two brothers with Duchenne muscular dystrophy and correlated the mutation in one of the brothers with immunologic detection of dystrophin in skeletal muscle. Southern and polymerase chain reaction (PCR) studies of genomic DNA from the affected boys showed no major gene rearrangements. However, the noted absence of a HindIII Southern fragment containing the proximal portion of exon 48 led to the identification of a point mutation that creates a new HindIII restriction site in that exon. Exon 48 was amplified by PCR from DNA of the patients and other family members and digested with HindIII to show the mutation in the two boys and also in their mother and maternal grandmother. Direct DNA sequencing demonstrated a cytosine-to-thymine transition at nucleotide 7163 of dystrophin that converts a glutamine codon (CAA) to an ochre chain termination codon (UAA). This mutation predicts a truncated dystrophin missing the distal spectrin-like repeat region, the cysteine-rich domain, and the carboxy terminal. Immunohistochemistry of skeletal muscle from one of the affected boys revealed membrane-localized dystrophin in the majority of fibers detected by anti-dystrophin antibodies against (1) the amino terminal and (2) part of the spectrin-like repeat region; both regions would be present in the truncated dystrophin predicted by the chain termination mutation. This suggests that the carboxy terminal may not be an absolute requirement for dystrophin membrane localization. Very few muscle fibers also showed peripheral immunostaining using anti-dystrophin antibodies against the carboxy terminal, suggesting gene reversion, suppression, or read-through in these rare fibers." @default.
- W2010825854 created "2016-06-24" @default.
- W2010825854 creator A5019877596 @default.
- W2010825854 creator A5044078041 @default.
- W2010825854 creator A5056775376 @default.
- W2010825854 creator A5083798632 @default.
- W2010825854 creator A5088649964 @default.
- W2010825854 date "1992-09-01" @default.
- W2010825854 modified "2023-09-25" @default.
- W2010825854 title "Premature chain termination mutation causing Duchenne muscular dystrophy" @default.
- W2010825854 doi "https://doi.org/10.1212/wnl.42.9.1775" @default.
- W2010825854 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/1513469" @default.
- W2010825854 hasPublicationYear "1992" @default.
- W2010825854 type Work @default.
- W2010825854 sameAs 2010825854 @default.
- W2010825854 citedByCount "21" @default.
- W2010825854 countsByYear W20108258542013 @default.
- W2010825854 countsByYear W20108258542020 @default.
- W2010825854 crossrefType "journal-article" @default.
- W2010825854 hasAuthorship W2010825854A5019877596 @default.
- W2010825854 hasAuthorship W2010825854A5044078041 @default.
- W2010825854 hasAuthorship W2010825854A5056775376 @default.
- W2010825854 hasAuthorship W2010825854A5083798632 @default.
- W2010825854 hasAuthorship W2010825854A5088649964 @default.
- W2010825854 hasConcept C104317684 @default.
- W2010825854 hasConcept C153911025 @default.
- W2010825854 hasConcept C176944494 @default.
- W2010825854 hasConcept C2778943923 @default.
- W2010825854 hasConcept C2780394045 @default.
- W2010825854 hasConcept C36823959 @default.
- W2010825854 hasConcept C501734568 @default.
- W2010825854 hasConcept C54355233 @default.
- W2010825854 hasConcept C78343239 @default.
- W2010825854 hasConcept C86803240 @default.
- W2010825854 hasConceptScore W2010825854C104317684 @default.
- W2010825854 hasConceptScore W2010825854C153911025 @default.
- W2010825854 hasConceptScore W2010825854C176944494 @default.
- W2010825854 hasConceptScore W2010825854C2778943923 @default.
- W2010825854 hasConceptScore W2010825854C2780394045 @default.
- W2010825854 hasConceptScore W2010825854C36823959 @default.
- W2010825854 hasConceptScore W2010825854C501734568 @default.
- W2010825854 hasConceptScore W2010825854C54355233 @default.
- W2010825854 hasConceptScore W2010825854C78343239 @default.
- W2010825854 hasConceptScore W2010825854C86803240 @default.
- W2010825854 hasIssue "9" @default.
- W2010825854 hasLocation W20108258541 @default.
- W2010825854 hasLocation W20108258542 @default.
- W2010825854 hasOpenAccess W2010825854 @default.
- W2010825854 hasPrimaryLocation W20108258541 @default.
- W2010825854 hasRelatedWork W1559470546 @default.
- W2010825854 hasRelatedWork W1561279073 @default.
- W2010825854 hasRelatedWork W1603857563 @default.
- W2010825854 hasRelatedWork W1981456950 @default.
- W2010825854 hasRelatedWork W2008433836 @default.
- W2010825854 hasRelatedWork W2030361960 @default.
- W2010825854 hasRelatedWork W2073238635 @default.
- W2010825854 hasRelatedWork W2167075467 @default.
- W2010825854 hasRelatedWork W2407435890 @default.
- W2010825854 hasRelatedWork W640096808 @default.
- W2010825854 hasVolume "42" @default.
- W2010825854 isParatext "false" @default.
- W2010825854 isRetracted "false" @default.
- W2010825854 magId "2010825854" @default.
- W2010825854 workType "article" @default.