2018
Celecoxib Ameliorates Seizure Susceptibility in Autosomal Dominant Lateral Temporal Epilepsy
Zhou L, Zhou L, Su L, Cao S, Xie Y, Wang N, Shao C, Wang Y, Zhou J, Cowell J, Shen Y. Celecoxib Ameliorates Seizure Susceptibility in Autosomal Dominant Lateral Temporal Epilepsy. Journal Of Neuroscience 2018, 38: 3346-3357. PMID: 29491011, PMCID: PMC5884462, DOI: 10.1523/jneurosci.3245-17.2018.Peer-Reviewed Original ResearchConceptsLeucine-rich glioma-inactivated 1Autosomal dominant lateral temporal epilepsyIntrinsic excitability of pyramidal neuronsExcitability of pyramidal neuronsGlioma-inactivated 1Seizure susceptibilityPyramidal neuronsIntrinsic excitabilityLateral temporal epilepsyGlutamatergic transmissionInherited syndromeTemporal epilepsyNonsynaptic epileptiform activityCytosolic phospholipase A<sub>2</sub>Nonsteroidal anti-inflammatory drugsCortical pyramidal neuronsAnti-inflammatory drugsKv1.2 expressionEpileptiform activityMutant miceFDA-approved drugsPathogenic basisCOX2 inhibitionCortical neuronsCelecoxib
2015
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
Cetica V, Sieni E, Pende D, Danesino C, De Fusco C, Locatelli F, Micalizzi C, Putti M, Biondi A, Fagioli F, Moretta L, Griffiths G, Luzzatto L, Aricò M. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. Journal Of Allergy And Clinical Immunology 2015, 137: 188-196.e4. PMID: 26342526, PMCID: PMC4699615, DOI: 10.1016/j.jaci.2015.06.048.Peer-Reviewed Original ResearchConceptsFamilial hemophagocytic lymphohistiocytosisHemophagocytic lymphohistiocytosisCases of familial hemophagocytic lymphohistiocytosisBiallelic pathogenic mutationsAffecting mostly childrenYears of experienceLife-threatening diseasePerforin expressionGenes PRF1Gene dosage effectMonoallelic mutationsRare conditionItalian RegistryGenetic abnormalitiesGenetic predispositionGenetic diagnosisPathogenic basisHyperinflammatory featuresPathogenic mutationsPatientsCytotoxicity assayExogenous triggersGenetic factorsLymphohistiocytosisRegistry
2004
PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells
Zhang MZ, Mai W, Li C, Cho SY, Hao C, Moeckel G, Zhao R, Kim I, Wang J, Xiong H, Wang H, Sato Y, Wu Y, Nakanuma Y, Lilova M, Pei Y, Harris RC, Li S, Coffey RJ, Sun L, Wu D, Chen XZ, Breyer MD, Zhao ZJ, McKanna JA, Wu G. PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cells. Proceedings Of The National Academy Of Sciences Of The United States Of America 2004, 101: 2311-2316. PMID: 14983006, PMCID: PMC356947, DOI: 10.1073/pnas.0400073101.Peer-Reviewed Original ResearchConceptsAutosomal recessive polycystic kidney diseasePolycystic kidney diseaseKidney diseaseEpithelial cellsRecessive polycystic kidney diseaseHuman autosomal recessive polycystic kidney diseaseCultured renal cellsHepatic disease 1 (PKHD1) genePulmonary bronchiPCK rat kidneysRat modelDisease associatesPCK ratsPolycystic kidneysRenal epithelial cellsType 2Pathogenic basisRenal cellsRat kidneyPrimary ciliaHepatic cellsPolyclonal AbKidneyGene productsRats
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