2012
Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice
Yuen T, Iqbal J, Zhu LL, Sun L, Lin A, Zhao H, Liu J, Mistry PK, Zaidi M. Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice. Biochemical And Biophysical Research Communications 2012, 422: 573-577. PMID: 22588172, PMCID: PMC3377787, DOI: 10.1016/j.bbrc.2012.05.027.Peer-Reviewed Original ResearchConceptsMacrophage-directed therapiesConnectivity mappingAutoimmune diathesisDisease miceImmune cellsNew agentsMice resultsLiver cellsGlucocerebrosidase geneDrug pairsInstitute databaseDisease phenotypeMiceDisease-drug pairsDiverse populationsCMAPCellsGammopathyDysfunctionTherapyDiathesisFuture testingAlbendazoleDisease
1992
Genetic diagnosis of Gaucher's disease
Mistry PK, Smith SJ, Ali M, Cox T, Hatton C, McIntyre N. Genetic diagnosis of Gaucher's disease. The Lancet 1992, 339: 889-892. PMID: 1348297, DOI: 10.1016/0140-6736(92)90928-v.Peer-Reviewed Original ResearchConceptsWild-type alleleMolecular basisGene analysisPoint mutationsMutationsGaucher diseaseAshkenazi Jewish descentAmplification refractory mutation systemGlucocerebrosidase geneGenetic counsellingAllelesCommon mutationsGenetic diagnosisPolymerase chain reactionUnrelated patientsPseudogenesDiverse ethnic originsGlucocerebrosidaseGenesChain reactionMutation systemJewish descentPrimersRefractory mutation system