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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite population, characterised by earlyExpand
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Mutation in Folate Metabolism Causes Epigenetic Instability and Transgenerational Effects on Development
The importance of maternal folate consumption for normal development is well established, yet the molecular mechanism linking folate metabolism to development remains poorly understood. The enzymeExpand
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Cloning and Characterization of Human Guanine Deaminase
Mouse erythrocyte guanine deaminase has been purified to homogeneity. The native enzyme was dimeric, being comprised of two identical subunits of approximately 50,000 Da. The protein sequence wasExpand
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Electron transfer flavoprotein
A19-year-old woman with mild myopathie symptoms from age 6 and fasting intolerance presented with a Reye-like syndrome and a myopathy. Investigations disclosed a lipid storage myopathy, type IIExpand
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Toward an evolutionary theory of dreaming.
  • F. Snyder
  • Psychology, Medicine
  • The American journal of psychiatry
  • 1 August 1966
The basic mystery of the biological condition associated with human dreaming, the REM State, is how the purposes of survival are served by such intervals of remarkable nervous excitation whichExpand
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A de novo case of trisomy 10p: Gene dosage studies of hexokinase, inorganic pyrophosphatase and adenosine kinase
SummaryA female infant with multiple congenital anomalies is presented. Cytogenetic study revealed the presence of a de novo, supernumerary, small telocentric chromosome exhibiting the bandingExpand
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Identification, expression, and characterization of Escherichia coli guanine deaminase.
Using the human cDNA sequence corresponding to guanine deaminase, the Escherichia coli genome was scanned using the Basic Local Alignment Search Tool (BLAST), and a corresponding 439-residue openExpand
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Family practice physicians' beliefs, attitudes, and practices regarding obesity.
This study examined 318 family practice physicians' beliefs, attitudes, and practices regarding obese patients. Most physicians surveyed were aware of the health effects of obesity and that normalExpand
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Kinetic considerations for the regulation of adenosine and deoxyadenosine metabolism in mouse and human tissues based on a thymocyte model.
Metabolic regulation at a branch point may be determined primarily by relative enzyme activities and affinity for common substrate. Adenosine and deoxyadenosine are both phosphorylated and deaminatedExpand
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Gene amplification and dual point mutations of mouse IMP dehydrogenase associated with cellular resistance to mycophenolic acid.
Mouse neuroblastoma cells (NB) selected for 10,000-fold increased resistance to mycophenolic acid (NB-Myco) showed a 200-500-fold increase in IMP dehydrogenase protein, and the enzyme (IMP: NAD+Expand
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