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Results 1 - 10 of 47 for respiratory
  1. The ETHE1 gene provides instructions for making an enzyme that is active in mitochondria, which are the energy-producing centers in cells. The ETHE1 enzyme ...
  2. The NCF1 gene provides instructions for making a protein called neutrophil cytosolic factor 1 (also known as p47-phox). This protein is one part (subunit) ...
  3. ... been found to cause spinal muscular atrophy with respiratory distress type 1 (SMARD1). SMARD1 is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Most mutations that ...
  4. ... been found to cause hereditary myopathy with early respiratory failure (HMERF), an inherited disease that affects muscles ... muscles) and muscles that are needed for breathing (respiratory muscles). These variants change single DNA building blocks ( ...
  5. ... progressive vision loss, affected individuals can have chronic respiratory and sinus infections, recurrent ear infections (otitis media), ... in multiple tissues, including the inner ear and respiratory tract. Malfunctioning cilia in these tissues may underlie ...
  6. ... rhinovirus (the virus that causes the common cold), respiratory syncytial virus (RSV), and the influenza (flu) virus, ... severe viral infections in the lungs and airways (respiratory tract). Infections are most commonly caused by rhinovirus, ...
  7. ... base of cilia in cells of the kidneys, respiratory tract, and the light-sensitive tissue at the ... localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc ...
  8. ... Nishino I, Nonaka I, Goto Y. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann ... McDermott M, Muntoni F, Poulton J. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial ...
  9. ... people with isolated problems affecting the digestive or respiratory system. For example, CFTR mutations have been found ... headache, fever, and nasal congestion or drainage. Other respiratory problems, including several conditions that partially block the ...
  10. ... RW. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS ... Fisher N, Ransac S, Mazat JP, Brasseur G. Respiratory complex III dysfunction in humans and the use ...
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