EXPLORATION OF PHENOTYPE IN AQUAPORIN 1 NULL HUMAN

$0M01FY2000RRNIH

Johns Hopkins University, Baltimore MD

Investigators

Linked publications & trials

Paper 39016335 Paper 38948860 Paper 38574825 Paper 38423369 Paper 38198070 Paper 37944567 Paper 37542462 Paper 37191558 Paper 36662765 Paper 36638096 Paper 36288905 Paper 36193739 Paper 35902682 Paper 35776183 Paper 35652341 Paper 35312098 Paper 35197258 Paper 35183128 Paper 35073748 Paper 34856180 Paper 34827529 Paper 34799567 Paper 34553764 Paper 34546623 Paper 34506964 Paper 34166677 Paper 34131117 Paper 34096894 Paper 34059833 Paper 33964299 Paper 33713764 Paper 33691726 Paper 33547079 Paper 33535024 Paper 33388403 Paper 33293549 Paper 33279889 Paper 33186364 Paper 33156902 Paper 32997571 Paper 32839606 Paper 32781363 Paper 32380068 Paper 32372009 Paper 31869403 Paper 31859455 Paper 31800405 Paper 31602475 Paper 31573601 Paper 31520838 Paper 31518848 Paper 31396565 Paper 31215037 Paper 31190621 Paper 31163174 Paper 31153659 Paper 31107304 Paper 31063666 Paper 31014101 Paper 31005552 Paper 30954970 Paper 30826282 Paper 30747308 Paper 30703536 Paper 30698716 Paper 30683625 Paper 30671673 Paper 30529451 Paper 30504071 Paper 30398376 Paper 30354704 Paper 30348535 Paper 30265320 Paper 30234606 Paper 30211722 Paper 30169624 Paper 30090843 Paper 30079758 Paper 29956882 Paper 29771785 Paper 29605094 Paper 29570723 Paper 29518416 Paper 29478353 Paper 29449165 Paper 29431692 Paper 29419568 Paper 29373672 Paper 29370333 Paper 29239891 Paper 29185836 Paper 29149237 Paper 29059381 Paper 29051146 Paper 28963255 Paper 28939248 Paper 28830083 Paper 28708808 Paper 28643023 Paper 28572159

Abstract

Aquaporin-1 (AQP1), the archetypal water channel protein, is abundantly expressed in a variety of tissues, including kidney, lung, eye, choroid plexus, and red blood cells. Deficiency of AQP1 was expected to produce a lethal or severe phenotype. Three humas identified with AQP1 deficiency (of six kindreds worldwide) are apparently normal. Recently, APQ1 null mice were found to be normal at baseline, but demonstrated profound defects in urine concentrating ability when water-deprived. These observations lend credence to speculation that human AQP1 "knockouts" are able to compensate for AQP1 deficiency in the unstressed state, but may manifest water transport defects when appropriately stressed. This study will assess that possibility.

View original record on NIH RePORTER →