Matches in SemOpenAlex for { <https://semopenalex.org/work/W569450112> ?p ?o ?g. }
- W569450112 abstract "This thesis describes two groups of experiments, both relating to thecondition of distal renal tubular acidosis (dRTA).In the first, an alternative diagnostic test of dRTA to the ‘gold standard’short ammonium chloride (NH4Cl) test was assessed. This was achievedby the simultaneous oral administration of the diuretic furosemide andthe mineralocorticoid fludrocortisone to increase distal sodium deliveryand a-intercalated cell proton secretion. I evaluated 11 control subjectsand 10 patients with known dRTA by giving oral NH4Cl orfurosemide/fludrocortisone in random order on separate days. 3subjects were unable to complete the study due to vomiting after theNH4Cl, however there were no adverse effects withfurosemide/fludrocortisone administration. The urine pH decreased toless than 5.3 in the controls with both tests, whereas no patients wereable to lower their urine pH below 5.3 with either test. The simultaneousadministration of furosemide/fludrocortisone proved to be an easy,effective and well-tolerated alternative to the standard NH4Cl test for thediagnosis of dRTA.The second group were laboratory-based molecular physiologyexperiments. Anion exchanger 1 (AE1) mediates electroneutral anionexchange across cell membranes. It is the most abundant protein in thered cell membrane, but is also found in the basolateral membrane ofrenal a-intercalated cells, where it is required for urinary acidification.Point mutations have been described that convert the red cell AE1 into acation conductance. AE1 mutations can also cause hereditary dRTA. Iinvestigated the properties of four dRTA associated AE1 mutations(R586H, G609R, S613F and G701D) by heterologous expression inXenopus Laevis oocytes. These mutants proved to be functional anionexchangers, unlike the red cell mutants, but also demonstrated a cation‘leak’. I found a very large leak property in the G701D mutant, which isprevalent in SE Asia. I hypothesised that this property might confer a survival advantage. I characterised three other AR dRTA-associated AE1mutants found in SE Asia, S773P, Delta850 and A858D via similar transportexperiments in AE1-expressing Xenopus oocytes. These three SE Asianmutants also had cation leaks of similar magnitude to that seen inG701D, a property that distinguishes them as a discrete group. Theclustering of these cation-leaky AE1 mutations to malarious areas of SEAsia suggests that they may confer malaria resistance." @default.
- W569450112 created "2016-06-24" @default.
- W569450112 creator A5065503305 @default.
- W569450112 date "2010-03-28" @default.
- W569450112 modified "2023-10-14" @default.
- W569450112 title "Distal renal tubular acidosis developments in its diagnosis and pathophysiology" @default.
- W569450112 cites W128793766 @default.
- W569450112 cites W13134514 @default.
- W569450112 cites W136229152 @default.
- W569450112 cites W1482066605 @default.
- W569450112 cites W1489940206 @default.
- W569450112 cites W1490691079 @default.
- W569450112 cites W1493028585 @default.
- W569450112 cites W1494806282 @default.
- W569450112 cites W1496858589 @default.
- W569450112 cites W1505533245 @default.
- W569450112 cites W1508076157 @default.
- W569450112 cites W1510676492 @default.
- W569450112 cites W1512598370 @default.
- W569450112 cites W1515527087 @default.
- W569450112 cites W1519083075 @default.
- W569450112 cites W1522409769 @default.
- W569450112 cites W1524550442 @default.
- W569450112 cites W1533109364 @default.
- W569450112 cites W1546215558 @default.
- W569450112 cites W1548346922 @default.
- W569450112 cites W1551014578 @default.
- W569450112 cites W1551636999 @default.
- W569450112 cites W1554532255 @default.
- W569450112 cites W1555778502 @default.
- W569450112 cites W1559922603 @default.
- W569450112 cites W1560118688 @default.
- W569450112 cites W1561589021 @default.
- W569450112 cites W1568412140 @default.
- W569450112 cites W1569015609 @default.
- W569450112 cites W1570106378 @default.
- W569450112 cites W1570960267 @default.
- W569450112 cites W1580950884 @default.
- W569450112 cites W1581243106 @default.
- W569450112 cites W1581489141 @default.
- W569450112 cites W1585661349 @default.
- W569450112 cites W1587217506 @default.
- W569450112 cites W1588473506 @default.
- W569450112 cites W1589489693 @default.
- W569450112 cites W1604694310 @default.
- W569450112 cites W1610051602 @default.
- W569450112 cites W1648849217 @default.
- W569450112 cites W1755464229 @default.
- W569450112 cites W1777336985 @default.
- W569450112 cites W178674831 @default.
- W569450112 cites W1805406405 @default.
- W569450112 cites W1822034226 @default.
- W569450112 cites W1860092817 @default.
- W569450112 cites W1870391416 @default.
- W569450112 cites W1876326576 @default.
- W569450112 cites W1964246617 @default.
- W569450112 cites W1965259129 @default.
- W569450112 cites W1965307365 @default.
- W569450112 cites W1965780695 @default.
- W569450112 cites W1966708968 @default.
- W569450112 cites W1966889853 @default.
- W569450112 cites W1967226773 @default.
- W569450112 cites W1967301717 @default.
- W569450112 cites W1967660315 @default.
- W569450112 cites W1968907108 @default.
- W569450112 cites W1969283110 @default.
- W569450112 cites W1969503178 @default.
- W569450112 cites W1971353989 @default.
- W569450112 cites W1971615832 @default.
- W569450112 cites W1971789330 @default.
- W569450112 cites W1972178394 @default.
- W569450112 cites W1972393980 @default.
- W569450112 cites W1972653214 @default.
- W569450112 cites W1972977050 @default.
- W569450112 cites W1973713046 @default.
- W569450112 cites W1974022140 @default.
- W569450112 cites W1974692171 @default.
- W569450112 cites W1975970390 @default.
- W569450112 cites W1976450208 @default.
- W569450112 cites W1976644875 @default.
- W569450112 cites W197706784 @default.
- W569450112 cites W1977952966 @default.
- W569450112 cites W1980361970 @default.
- W569450112 cites W1980811217 @default.
- W569450112 cites W1981130374 @default.
- W569450112 cites W1982245021 @default.
- W569450112 cites W1983837942 @default.
- W569450112 cites W1984635589 @default.
- W569450112 cites W1984677818 @default.
- W569450112 cites W1984755904 @default.
- W569450112 cites W1985040456 @default.
- W569450112 cites W1985048947 @default.
- W569450112 cites W1985416975 @default.
- W569450112 cites W1985811899 @default.
- W569450112 cites W1986001368 @default.
- W569450112 cites W1986645079 @default.
- W569450112 cites W1986852684 @default.
- W569450112 cites W1986894681 @default.
- W569450112 cites W1986909268 @default.
- W569450112 cites W1987914193 @default.