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- 1. 腎集合管ナトリウムチャンネルの遺伝的障害:リドル症候群および偽性低アルドステロン症1型genetic disorders of the collecting tubule sodium channel liddles syndrome and pseudohypoaldosteronism type 1 [show details]
…"gain-of-function" that mimics the effects of hyperaldosteronism . Expression of these abnormal genes in the Xenopus oocyte is associated with a marked increase in sodium transport and loss of inhibition of channel …
- 2. 鉄のバランス調節regulation of iron balance [show details]
…associated with a marked impairment in intestinal iron transport . Parallel functional studies in Xenopus oocytes found a single cDNA that stimulated iron transport. This divalent metal transporter protein …
- 3. 新生児てんかん症候群neonatal epilepsy syndromes [show details]
…mutations may result in a dominant-negative effect on voltage-gated potassium channels, which in a xenopus model system could be partially reversed by retigabine . Clinically, patients with KCNQ2 mutations…
- 4. 尿酸の産生と排泄のバランスurate balance [show details]
…GLUT9 is inhibited by the uricosuric agents, probenecid and benzbromarone . GLUT9, when expressed in Xenopus laevis oocytes, has strong uric acid transporting ability and had previously been identified as…
- 5. 赤血球産生調節regulation of erythropoiesis [show details]
…TAL1 , thereby suggesting a physiologic interaction in vivo. GATA2 is expressed in the regions of Xenopus and Zebrafish embryos that are fated to become hematopoietic, and is highly expressed in progenitor…
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