نتایج جستجو برای: menkes
تعداد نتایج: 1314 فیلتر نتایج به سال:
21 The Menkes protein (ATP7A) is defective in the Cu deficiency disorder, Menkes 22 disease and is an important contributor to maintenance of physiological copper homeostasis. To 23 investigate more fully the role of ATP7A, transgenic mice expressing the human Menkes gene 24 ATP7A from chicken β-actin composite promoter (CAG) were produced. The transgenic mice 25 expressed ATP7A in lung, heart,...
The brindled mouse mutant (Mo(br)) is the closest animal model of the human genetic copper deficiency, Menkes disease, which is presumed to be due to a mutation at the X-linked mottled locus (Mo). The mutant mice are hypopigmented and die at around 15 days after birth, but can be saved by treatment with copper before the 10th postnatal day. Menkes disease has been shown to be due to mutations o...
We report the case of a male patient with a normal development in the first three months of life, presenting for global regression, central axial hypotonic syndrome, pyramidal syndrome, focal epileptic seizures, and a particular aspect of the hair - almost absent, short, sparse, lightly colored, at age of five months, becoming coarse, twisted (kinky hair) by the age of 21 months. Different dise...
The Menkes protein (ATP7A) is defective in the Cu deficiency disorder Menkes disease and is an important contributor to the maintenance of physiological Cu homeostasis. To investigate more fully the role of ATP7A, transgenic mice expressing the human Menkes gene ATP7A from chicken beta-actin composite promoter (CAG) were produced. The transgenic mice expressed ATP7A in lung, heart, liver, kidne...
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. Acco...
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