2020
Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement
Ohishi Y, Ammann S, Ziaee V, Strege K, Groß M, Amos C, Shahrooei M, Ashournia P, Razaghian A, Griffiths G, Ehl S, Fukuda M, Parvaneh N. Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement. Frontiers In Immunology 2020, 11: 612977. PMID: 33362801, PMCID: PMC7758216, DOI: 10.3389/fimmu.2020.612977.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAlbinismAnimalsBinding SitesCell LineChildChild, PreschoolChlorocebus aethiopsCOS CellsFemaleHumansInfantInfant, NewbornLeukocytes, MononuclearLymphohistiocytosis, HemophagocyticMaleMembrane ProteinsMutation, MissensePiebaldismPrimary Immunodeficiency Diseasesrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsConceptsGS-2Rab GTPase familyRegulates vesicular transportAnimal cell linesGTPase familyOrganelle dynamicsTissue-specific effectorsVesicular transportMissense mutationsHemophagocytic lymphohistiocytosisCellular consequencesRab27aGriscelli syndrome type 2Episodes of hemophagocytic lymphohistiocytosisMutationsBinding sitesInborn errors of immunityCell linesPartial albinismErrors of immunityHair pigmentationCytotoxic lymphocytesClinical characteristicsInborn errorsAlbinism
2006
Innate immunity defects in Hermansky-Pudlak type 2 syndrome
Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, Benassi M, Gentili F, Ferrari D, Notarangelo L, Cavadini P, Marcenaro E, Dusi S, Cassatella M, Facchetti F, Griffiths G, Moretta A, Notarangelo L, Badolato R. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood 2006, 107: 4857-4864. PMID: 16507770, DOI: 10.1182/blood-2005-11-4398.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Protein Complex 3Adaptor Protein Complex beta SubunitsAdultAntigens, CDChildChild, PreschoolFemaleGene Expression RegulationHermanski-Pudlak SyndromeHumansImmunity, CellularImmunity, InnateImmunologic Deficiency SyndromesInfantKiller Cells, NaturalLeukocyte ElastaseMaleNeutrophilsPlatelet Membrane GlycoproteinsTetraspanin 30trans-Golgi NetworkConceptsAdaptor protein 3Hermansky-PudlakHermansky-Pudlak syndrome type 2Type 2 syndromeTrans-GolgiCargo proteinsBeta3A subunitAutosomal recessive diseaseDefects of innate immunityPlasma membraneNatural killerNK cellsInnate immunityInnate immune defectsAnalysis of neutrophilsRecessive diseaseIL-2-activated NK cellsPartial albinismLevels of perforinPathogenesis of immunodeficiencyUnstimulated NK cellsProtein 3Cytolitic activityImmune defectsNeutrophil function
1970
White spots in tuberous sclerosis
Hurwitz S, Braverman I. White spots in tuberous sclerosis. The Journal Of Pediatrics 1970, 77: 587-594. PMID: 5454707, DOI: 10.1016/s0022-3476(70)80199-8.Peer-Reviewed Original Research
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply