2011
Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S
Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. American Journal Of Physiology - Cell Physiology 2011, 301: c1325-c1343. PMID: 21849667, PMCID: PMC3233792, DOI: 10.1152/ajpcell.00054.2011.Peer-Reviewed Original ResearchConceptsMM bathCation currentBath additionBath exposureOocyte studiesExpression increasesStrong hyperpolarizationFunction mutationsIntracellular pHElevated NaMembrane potentialOocytesDistinct cellular responsesFunction phenotypesInfluxPhenotypeCellular responsesAmine transportDistinct mechanismsElicit distinct cellular responsesPatients
1999
Stomatocytosis is absent in "stomatin"-deficient murine red blood cells.
Zhu Y, Paszty C, Turetsky T, Tsai S, Kuypers F, Lee G, Cooper P, Gallagher P, Stevens M, Rubin E, Mohandas N, Mentzer W. Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. Blood 1999, 93: 2404-10. PMID: 10090952, DOI: 10.1182/blood.v93.7.2404.407k13_2404_2410.Peer-Reviewed Original ResearchMeSH KeywordsAnemia, Hemolytic, CongenitalAnimalsBlood ProteinsCarrier ProteinsCationsErythrocyte DeformabilityErythrocyte IndicesErythrocyte MembraneErythrocytes, AbnormalFemaleGenotypeHumansIon TransportMaleMembrane FluidityMembrane ProteinsMiceMice, Inbred C57BLMice, KnockoutPhenotypePhosphatidylserinesPhospholipid Transfer ProteinsPotassiumSodium