Results 121 to 130 of about 127,703 (256)
Biventricular Pressure‐Volume Loop Analysis in an LVAD Patient Optimized With Impella RP Flex
ABSTRACT Right ventricular (RV) failure after left ventricular assist device (LVAD) implantation is a serious complication which may necessitate temporary mechanical support in refractory cases. Here we describe a 63‐year‐old man with end‐stage ischemic cardiomyopathy and severe combined pre‐ and post‐capillary pulmonary hypertension who developed ...
Sara S. Inglis +3 more
wiley +1 more source
ABSTRACT The cytoskeleton of striated muscle integrates force transmission, mechanotransduction, and sarcolemmal stability through coordinated networks of sarcomeres, costameres, and intermediate filaments. Together, these systems establish mechanical continuity between the contractile apparatus, the sarcolemma, and the extracellular matrix.
Houda Cohen +3 more
wiley +1 more source
ABSTRACT We here describe mouse models with complementary homozygous Svil mutations. In skeletal muscle, Svil‐Mut mice express the Svil‐encoded N‐terminus fused to the βgal‐neo gene‐trap tag and lack the highly conserved archvillin C‐terminus; Svil‐KO mice lack expression of all known Svil‐encoded proteins; and Svil‐LoxP mice contain loxP sites for ...
Tara C. Smith +9 more
wiley +1 more source
GNE Myopathy with Congenital Thrombocytopenia [PDF]
GNE myopathy is a distal dominant myopathy with characteristic sparing of quadriceps, which is known to be caused by mutation of the GNE gene. Recently, there were some reports of thrombocytopenia that concurred with GNE myopathy. We also present a case
최영철 +4 more
core
'Cap myopathy' : case report of a family
We report the observation of an 18-year-old girl, whose clinical presentation was very suggestive of a congenital myopathy with neonatal onset. A congenital myopathy had been already diagnosed in her brother and in addition her half-cousin died diagnosed
Barois, A., +7 more
core +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
Secretopathies emerge as a new class of neurocristopathies
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira +3 more
wiley +1 more source
This paper delves into the progressive concept of atrial myopathy, shedding light on its development and its impact on atrial characteristics. It extensively explores the intricate connections between atrial myopathy, atrial fibrillation (AF), and ...
Khan, Rahmeen Pervaiz +3 more
core +1 more source
Brazilian processing plants have identified the so-calledspaghetti breast myopathy characterized by muscular dystrophy of unknown etiology. This study aimed at estimating the incidence of spaghetti breast myopathyin broilers from three commercial genetic
FS Montagna +4 more
doaj +1 more source
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard +3 more
wiley +1 more source

