2016
Platelet WDR1 suppresses platelet activity and is associated with cardiovascular disease
Montenont E, Echagarruga C, Allen N, Araldi E, Suarez Y, Berger JS. Platelet WDR1 suppresses platelet activity and is associated with cardiovascular disease. Blood 2016, 128: 2033-2042. PMID: 27609643, PMCID: PMC5073182, DOI: 10.1182/blood-2016-03-703157.Peer-Reviewed Original ResearchConceptsPlatelet activityCardiovascular diseaseMEG-01 cellsHyperreactive platelet phenotypeBasal intracellular calcium concentrationPathogenesis of atherothrombosisSex-matched controlsIntracellular calcium concentrationMessenger RNAMEG-01Healthy controlsClinical significancePlatelet-related genesPlatelet phenotypeBasal stateMegakaryoblastic cell line MEG-01Human megakaryoblastic cell line MEG-01Thrombin activationDiseaseCalcium concentrationKD phenotypeProtein levelsF-actin contentPlatelet messenger RNAPlatelet RNA
2002
A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease
Castillo S, Reyes G, Tejedor D, Mozas P, Suarez Y, Lasuncion M, Cenarro A, Civeira F, Alonso R, Mata P, Pocovi M, Group of FH O. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. Human Mutation 2002, 20: 477-477. PMID: 12442279, DOI: 10.1002/humu.9087.Peer-Reviewed Original ResearchConceptsDouble mutant alleleLDL receptor geneFamilial hypercholesterolemiaHomozygous patientsReceptor geneSpanish FH patientsCholesterol-lowering treatmentLDL cholesterol reductionPlasma cholesterol levelsAbility of LDLMitogen-stimulated lymphocytesCholesterol levelsCholesterol reductionFH patientsCardiovascular diseasePatientsHomozygous FHHeterozygous patientsUnrelated patientsCytometric analysisHypercholesterolemiaLDL bindingDefective LDL bindingCell proliferationGenetic disorders