2021
Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome
Mencher SR, Tamborlane WV, Patel AD. Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome. Case Reports In Pediatrics 2021, 2021: 9981306. PMID: 34987878, PMCID: PMC8723881, DOI: 10.1155/2021/9981306.Peer-Reviewed Original ResearchStem cell transplantAnti-Mullerian hormoneGrowth failureGriscelli syndromeCell transplantOvarian failureLate endocrine effectsPersistent growth failureLow ovarian reservePremature ovarian failurePoor weight gainInitial biochemical evaluationSevere short statureEosinophilic enterocolitisGlucocorticoid useHost diseaseUnderlying illnessOvarian reserveAutoimmune conditionsGH therapyGraves' diseasePremature menopauseInflammatory conditionsSevere immunodeficiencyHypergonadotropic hypogonadism
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
2002
The leaden Gene Product Is Required with Rab27a to Recruit Myosin Va to Melanosomes in Melanocytes
Hume A, Collinson L, Hopkins C, Strom M, Barral D, Bossi G, Griffiths G, Seabra M. The leaden Gene Product Is Required with Rab27a to Recruit Myosin Va to Melanosomes in Melanocytes. Traffic 2002, 3: 193-202. PMID: 11886590, DOI: 10.1034/j.1600-0854.2002.030305.x.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainCell NucleusCells, CulturedImmunoblottingMelanocytesMelanosomesMiceMice, Inbred BALB CMice, Inbred C3HMice, Inbred C57BLMicroscopy, ElectronMicroscopy, FluorescenceMutationMyosin Type VProtein BiosynthesisProteinsrab GTP-Binding Proteinsrab27 GTP-Binding ProteinsReverse Transcriptase Polymerase Chain ReactionSpleenSyndromeT-Lymphocytes, CytotoxicConceptsGene productsMyosin VaClasses of effector proteinsFunction of lysosome-related organellesLytic granulesPeripheral actin networkLysosome-related organellesLoss of function mutationsLocalized to melanosomesCytotoxic T lymphocytesTips of melanocyte dendritesGriscelli syndromeEffector proteinsActin networkPerinuclear clusteringT lymphocytesRab27aFunction mutationsImmunological synapseMyosinMelanocyte dendritesPromote recruitmentMelanosomesKill target cellsReduced levels
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply