نتایج جستجو برای: dreifuss
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This report is substantially based on the contents of a proposal to submitted to the National Science Foundation, in response to Advanced Computational Infrastructure and Research Programs, New Technologies
The mayflies of the temperate and cold zones have well-synchronized life cycles, distinct cohorts, short emergence and flight periods. In contrast, aquatic insects from the tropical zones are characterized by multivoltine life cycles, “non-discernible cohorts” and extended flight periods throughout the year. This report is the first observation of life cycle patterns made of two species of mayf...
The new technology of next-generation sequencing is changing our perceptions of the form and function of the biological world. The emerging data reveal an array of microbes that is more vast and more central to all biological processes than previously appreciated. Further, evidence is accumulating that the alliances of microbes with one another and with constituents of the macrobiological world...
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked inherited disease characterized by early contracture of the elbows, Achilles tendons and post-cervical muscles, slow progressive muscle wasting and weakness and cardiomyopathy presenting with arrhythmia and atrial paralysis: heart block can eventually lead to sudden death. The EDMD geneencodes a novel ubiquitous protein, emerin, which deco...
A 13-year-old girl with known Emery-Dreifuss Muscular Dystrophy (EDMD) admitted to the emergency service and diagnosed as appendicitis. On physical examination, contractures of her elbows, Achilles tendons and posterior cervical muscles were noticed. She showed muscular wasting. Preoperative airway examination revealed a difficulty for endotracheal intubation. Following the induction with fenta...
Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twelve of the 14 emerin mutations caused early termination of translation. An in-frame deletion of six amino acids from the C-terminal transmembrane he...
Most report of Weaver syndrome have been sporadic cases and the genetic basis of the syndrome is uncertain. This report of an affected father and daughter provides evidence for autosomal dominant inheritance.
In ferromagnetic spin models above the critical temperature (T>T_{cr}) the partition function zeros accumulate at complex values of the magnetic field (H_{E}) with a universal behavior for the density of zeros rho(H) approximately mid R:H-H_{E}mid R:;{sigma} . The critical exponent sigma is believed to be universal at each space dimension and it is related to the magnetic scaling exponent y_{h}...
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