2014
Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology
Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. Journal Of Hepatology 2014, 61: 1056-1063. PMID: 25016221, PMCID: PMC4203706, DOI: 10.1016/j.jhep.2014.06.038.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCarboxylic Ester HydrolasesChildCholestasisDNA Mutational AnalysisEnd Stage Liver DiseaseExomeFatal OutcomeFemaleGenes, RecessiveHepatolenticular DegenerationHeterozygoteHomozygoteHumansInfant, NewbornLiver FailureLiver Failure, AcuteMaleMembrane ProteinsMitochondrial ProteinsMolecular Sequence DataPedigreeReceptor, Notch2RNA Splice SitesSequence Homology, Amino AcidConceptsFatal acute liver failureWhole-exome sequencingAdvanced liver diseaseAcute liver failureIndeterminate etiologyYear old femaleLiver failureLiver diseaseMetabolic liver diseasePatient 3Treatment optionsPhenotypic spectrumPediatric liver failureDecompensated liver cirrhosisManagement of childrenOptimal treatment optionsAge 3 monthsNovel inborn errorLiver transplantAtypical presentationLiver cirrhosisHepatocerebral mitochondrial DNA depletion syndromePatient 1Patient 2Unknown etiology
2013
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB. Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity. American Journal Of Human Genetics 2013, 92: 245-251. PMID: 23332917, PMCID: PMC3567281, DOI: 10.1016/j.ajhg.2012.12.012.Peer-Reviewed Original Research
1995
Osteopontin Is Not a Marker for Proliferating Human Vascular Smooth Muscle Cells
Newman C, Bruun B, Porter K, Mistry P, Shanahan C, Weissberg P. Osteopontin Is Not a Marker for Proliferating Human Vascular Smooth Muscle Cells. Arteriosclerosis Thrombosis And Vascular Biology 1995, 15: 2010-2018. PMID: 7583583, DOI: 10.1161/01.atv.15.11.2010.Peer-Reviewed Original ResearchConceptsHuman vascular smooth muscle cellsOP gene expressionVascular smooth muscle cellsRat vascular smooth muscle cellsGene expressionRodent vascular smooth muscle cellsAsp cell-binding sequenceSmooth muscle cellsCell-binding sequenceOP mRNAMuscle cellsNorthern blot analysisCultured human vascular smooth muscle cellsNormal growth mediumMRNA expressionFibroblast growth factorBasic fibroblast growth factorBalloon carotid injuryCultured rat vascular smooth muscle cellsCultured human macrophagesLipid loadingGrowth mediumTGF beta 1Situ hybridization studiesSaphenous vein
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