2024
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia
Cárdenas W, Conley A, Nagar S, Núñez-Ríos D, Jordan I, Lattig M. Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia. PLOS ONE 2024, 19: e0313777. PMID: 39556609, PMCID: PMC11573203, DOI: 10.1371/journal.pone.0313777.Peer-Reviewed Original ResearchConceptsAncestral originTYR haplotypeAdmixed populationsOCA2 geneOCA patientsOCA2 mutationsOculocutaneous albinismAdmixed American populationsDisease-Associated VariantsGlobal reference populationsAutosomal recessive oculocutaneous albinismNative American admixtureDisease-causing mutationsNative American originGene mutationsRecessive conditionColonization historyGenetic architectureGenetic admixtureMendelian diseasesCompound heterozygote patientsAffected family membersAssociation mappingSephardic Jewish originRecessive allelesSodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism
Kumar N, Bazgain K, Singh S, Katoch D. Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism. Oman Journal Of Ophthalmology 2024, 17: 124-126. PMID: 38524338, PMCID: PMC10957032, DOI: 10.4103/ojo.ojo_35_23.Peer-Reviewed Original ResearchRhegmatogenous retinal detachmentSodium fluorescein dyeOculocutaneous albinismRetinal detachmentBilateral diminution of visionComplex rhegmatogenous retinal detachmentAssociation of keratoconusCentral corneal thinningDiminution of visionEmulsified silicone oilCorneal thinningTransillumination defectsOcular examinationVitreous cavityLeft eyeRight eyeSurgical managementFluorescein dyeReview of literatureAdjunctEyesAlbinismExaminationKeratoconusPseudophakia
2014
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding
Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio M, Pende D, Gilmour K, Romagnoli P, Griffiths G, Aricò M. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. Journal Of Allergy And Clinical Immunology 2014, 135: 1310-1318.e1. PMID: 25312756, PMCID: PMC4418747, DOI: 10.1016/j.jaci.2014.08.039.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdolescentAlbinismCase-Control StudiesCell DegranulationCell LineChildChild, PreschoolCohort StudiesCytotoxicity, ImmunologicDNA Mutational AnalysisFemaleGene ExpressionGenetic MarkersHumansInfantLymphohistiocytosis, HemophagocyticMaleMembrane ProteinsModels, MolecularMutationPerforinPhenotypeProtein BindingProtein Conformationrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsSkin PigmentationConceptsFamilial hemophagocytic lymphohistiocytosisCellular cytotoxicityHematopoietic stem cell transplantationMunc13-4Griscelli syndrome type 2FHL-related genesInteraction of Rab27aStem cell transplantationPigment dilutionAbsence of albinismNormal pigmentationHemophagocytic lymphohistiocytosisCell transplantationClinical evidenceBiallelic mutationsRAB27A mutationsFatal disorderGenetic diagnosisOculocutaneous albinismPatientsGriscelli syndromeAffecting pigmentationType 2Rab27aMutation analysis
2009
Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
Wenham M, Grieve S, Cummins M, Jones M, Booth S, Kilner R, Ancliff P, Griffiths G, Mumford A. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica 2009, 95: 333-337. PMID: 19679886, PMCID: PMC2817039, DOI: 10.3324/haematol.2009.012286.Peer-Reviewed Original ResearchConceptsHermansky Pudlak syndrome type 2Cytotoxic T lymphocytesT lymphocytesIncreased cell surface expressionT lymphocyte dysfunctionProteins to lysosomesAdaptor protein 3Type 2Phenotype of oculocutaneous albinismDisorder associated with mutationsDense granule defectsCell-surface expression of CD63Expression of CD63Nonsense substitutionFrame-shiftClinical phenotypeOculocutaneous albinismStudy subjectsImpaired aggregationProtein 3Granule defectsReduced cytotoxicityPlateletAP3B1Reduced uptake
2003
Adaptor protein 3–dependent microtubule-mediated movement of lytic granules to the immunological synapse
Clark R, Stinchcombe J, Day A, Blott E, Booth S, Bossi G, Hamblin T, Davies E, Griffiths G. Adaptor protein 3–dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nature Immunology 2003, 4: 1111-1120. PMID: 14566336, DOI: 10.1038/ni1000.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Protein Complex 3Adaptor Protein Complex beta SubunitsAntigens, CDBase SequenceCytoplasmic GranulesHermanski-Pudlak SyndromeHumansImmune SystemMembrane Transport ProteinsMicrotubulesMolecular Sequence DataMutationPlatelet Membrane GlycoproteinsProteinsTetraspanin 30T-Lymphocytes, CytotoxicConceptsAP-3Hermansky-Pudlak syndromeLytic granulesImmunological synapseAP-3 deficiencyAdaptor protein 3Hermansky-Pudlak syndrome type 2Lysosomal sortingSecretory domainPolarized secretionAutosomal recessive diseaseCytotoxic T lymphocyte (CTL)-mediated cytotoxicityRare autosomal recessive diseasePlasma membraneProtein CD63Recessive diseaseOculocutaneous albinismProtein 3Platelet defectsSynapseType 2AdaptorMicrotubulesCTLMutations
1998
Oculocutaneous Albinism
Bolognia J. Oculocutaneous Albinism. 1998, 737-743. DOI: 10.1007/978-1-59259-726-0_79.Chapters
1985
Hermansky-Pudlak syndrome in pregnancy: Two case studies
Reiss R, Copel J, Roberts N, Hobbins J. Hermansky-Pudlak syndrome in pregnancy: Two case studies. American Journal Of Obstetrics And Gynecology 1985, 153: 564-565. PMID: 4061519, DOI: 10.1016/0002-9378(85)90475-2.Peer-Reviewed Case Reports and Technical Notes
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