2006
Intact T cell responses in ataxia telangiectasia
Pashankar F, Singhal V, Akabogu I, Gatti RA, Goldman FD. Intact T cell responses in ataxia telangiectasia. Clinical Immunology 2006, 120: 156-162. PMID: 16762595, DOI: 10.1016/j.clim.2006.04.568.Peer-Reviewed Original ResearchConceptsAtaxia telangiectasiaSingle-cell levelQuantitative real-time PCRReal-time PCRT patientsRecessive multisystem disorderOpportunistic infectionsCell functionT cellsAutosomal recessive multisystem disorderCell levelIntact T-cell responsesCD8 T cell subsetsSignificant immune abnormalitiesLevels of Th1T cell responsesT cell subsetsVariable immune deficiencyT cell functionFlow cytometryAnti-CD3 stimulationStimulated T cellsQuantitative defectsCellsImmune abnormalities
2000
Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature
Johnston L, Pashankar F, Camacho‐Hübner C, Savage M, Clark A. Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature. Clinical Endocrinology 2000, 52: 463-469. PMID: 10762289, DOI: 10.1046/j.1365-2265.2000.00940.x.Peer-Reviewed Original ResearchConceptsGrowth hormone insensitivityIdiopathic short staturePartial growth hormone insensitivityGrowth hormone receptorHormone insensitivityShort statureSerum IGF-I levelsHormone receptorsShort stature subjectsIGF-I levelsGH provocation testsProvocation testExon 9GH deficiencyControl populationCodon 325Protein levelsAmino acid changesPatientsHuman growth hormone receptorCentileDominant-negative variantChildrenSubjectsDominant negative mutation