2019
Dual Sensing of Physiologic pH and Calcium by EFCAB9 Regulates Sperm Motility
Hwang JY, Mannowetz N, Zhang Y, Everley RA, Gygi SP, Bewersdorf J, Lishko PV, Chung JJ. Dual Sensing of Physiologic pH and Calcium by EFCAB9 Regulates Sperm Motility. Cell 2019, 177: 1480-1494.e19. PMID: 31056283, PMCID: PMC8808721, DOI: 10.1016/j.cell.2019.03.047.Peer-Reviewed Original Research
2000
Functional impairment of lens aquaporin in two families with dominantly inherited cataracts
Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P. Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. Human Molecular Genetics 2000, 9: 2329-2334. PMID: 11001937, DOI: 10.1093/oxfordjournals.hmg.a018925.Peer-Reviewed Original ResearchConceptsAQP0 proteinMutant proteinsWater channel activityDominant-negative behaviorOocyte plasma membraneOocyte expression systemXenopus laevis oocyte expression systemLens aquaporinsDifferent point mutationsPlasma membraneExpression systemSevere defectsPoint mutationsMissense mutationsProteinChannel activityAQP2 proteinRecessive traitFunctional defectsPathophysiological relevanceMutationsCongenital cataractFamilyCataract formationAQP0