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Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Zusätzlich bieten wir Ihnen Myopalladin Antikörper (33) und Myopalladin Kits (8) und viele weitere Produktgruppen zu diesem Protein an.
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Targeted sequencing revealed trigenic mutations: c.700G>A/p.E234K in DES, c.2966G>A/p.R989H in MYPN, and c.5918G>C/p.R1973P in CACNA1C in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome.
Homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy.
results suggest that MYPN screening should be considered in individuals with mild nemaline myopathy, especially when cardiac problems or intranuclear rods are present
Heterozygote Mypn(WT/Q526X) knock-in mice develop RCM due to persistence of mutant Mypn(Q526X) protein in the nucleus.
the clinical significance of myopalladin for the functional integrity of the sarcomeric apparatus and the protection against dilated cardiomyopathy
Two nonsense and 13 missense MYPN variants were identified in subjects with hypertrophic, dilated and/or restrictive cardiomyopathy.
mutations in PDLIM3 and MYPN are infrequent in hypertrophic cardiomyopathies
myopalladin plays a signaling role in targeting and orienting nebulin during sarcomere assembly
myopalladin gene is a new gene associated with dilated cardiomyopathy and observed mutations in 3-4% of cases in a population. of European descent.
Two polymorphisms previously identified and described in the 3'UTR of MYPN and TTN genes in a group of Italian Large White (ILW) and Italian Duroc (ID) pigs, were analysed.
Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants.
, sarcomeric protein myopalladin, 145 kDa (MYOP)