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ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy.
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This study shows that WASp plays a critical role in thymic output, which highly correlates with the subcellular location and level of F-actin in T cells.
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Genes associated with Nemaline Myopathy were sequenced. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the novel variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process.
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Myopathy-inducing mutation H40Y in ACTA1 hampers actin filament structure and function.
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Our study demonstrates that high ActA level is an independent prognosis factor of survival in cancer patients. More than a basic marker of the severity of the neoplastic disease or of the inflammatory process, ActA seems to influence survival by contributing to the development of cachexia and loss of skeletal muscle mass.
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The study confirmed ACTA1 mutations in four patients, including one with intranuclear rods, one with large intracytoplasmic aggregates, and two with nemaline intracytoplasmic rods.
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Study shows that clinically severe ACTA1-related myopathy can present with muscle morphological findings suggestive of cytoplasmic body myopathy in the absence of definite nemaline rods.
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Shorter than normal thin filament length contributes to the impaired force generation in patients with thin filament myopathy, but only in those who harbor specific mutations in NEB or ACTA1.
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Over-expression of TNC, SMA, and vimentin were significantly correlated with the lower overall survival in prostate cancer patients.
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ANA and ASMA evaluation in patients with liver transplantation and no history of autoimmune disease has no clinical relevance, since it varies in time and is not related to any risk factors or liver injury. Routine autoimmunity evaluation should be avoided.
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Upon actin engagement, the N-terminal "strap" and helix 1 are displaced from the vinculin tail helical bundle to mediate actin bundling.
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This study reported the new information on the frequency and phenotypes of congenital myopathy caused by ACTA1 mutations in subjects >/=5 years of age.
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The authors propose that Lpd delivers Ena/VASP proteins to growing barbed ends and increases their actin polymerase activity by tethering them to actin filaments.
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Mutations in ACTA1 can cause pathologic features consistent with myofibrillar myopathy.
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TIMP-1 significantly increased levels of alpha-SMA.
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novel homozygous recessive missense variant (c.460G>C, P.(Val154Leu)) was found in two brothers with infantile-onset congenital muscular dystrophy with rigid spine.
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Myopathy associated with zebra bodies is part of the spectrum of myopathies associated with the ACTA1 gene.
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New scapuloperoneal phenotype associated with an ACTA1 mutation.
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Antisynthetase syndrome-associated myositis is characterized by distinctive myonuclear actin filament inclusions.
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The predominant pathway mediated by Australian bat lyssavirus G envelope for internalization into HEK293T cells is clathrin-and actin-dependent also requiring Rab5.