2014
DOI: 10.1073/pnas.1324242111
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Abstract: Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic modifiers of muscular dystrophy and its associated cardiomyopathy, we used quantitative trait locus mapping and whole genome sequencing in a mouse model. This approach uncovered a modifier locus on chromosome 11 associated with sarcolemmal membrane damage and heart mass. Whole genome and RNA sequencing identified Anxa6, encoding annexin A6, as a modifier ge… Show more

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Cited by 120 publications
(155 citation statements)
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“…Although there are many genetic differences between these strains, the C57BL/6J strain carries the same Anxa6 allele described in the DBA2J background that produces low-level expression of truncated annexin A6. 15 We now show that the Dysf B6 strain carries Anxa6 gene polymorphisms and the alternatively spliced Anxa6 transcript seen in the DBA2J background. This alternatively spliced Anxa6 transcript resulted in the expression of a truncated form of annexin A6, A6N32.…”
mentioning
confidence: 61%
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“…Although there are many genetic differences between these strains, the C57BL/6J strain carries the same Anxa6 allele described in the DBA2J background that produces low-level expression of truncated annexin A6. 15 We now show that the Dysf B6 strain carries Anxa6 gene polymorphisms and the alternatively spliced Anxa6 transcript seen in the DBA2J background. This alternatively spliced Anxa6 transcript resulted in the expression of a truncated form of annexin A6, A6N32.…”
mentioning
confidence: 61%
“…15 Flexor digitorum brevis fibers were transfected using methods similar to the in vivo electroporation methods described in detail previously. 33,34 Briefly, the footpad was injected with 10 mL of hyaluronidase (8 U).…”
Section: Electroporation Fiber Preparation and Laser Damage Assaymentioning
confidence: 99%
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