grant
Project 3- FXPOI: Mechanisms and Modifiers
Organization UNIVERSITY OF MICHIGAN AT ANN ARBORLocation ANN ARBOR, UNITED STATESPosted 11 Sept 2025Deadline 31 Aug 2030
NIHUS FederalResearch GrantFY20250-11 years old5' Untranslated Regions5'UTRASDAccelerationAddressAgeAllelesAllelomorphsAnxiety DisordersAutismAutistic DisorderBinding ProteinsBody SystemCGG repeatCGG repeat expansionCausalityChildChild YouthChildren (0-21)ChronicClimactericClinicalComplexCoronary DiseaseCoronary heart diseaseDNA mutationDataDiagnosisDiseaseDisorderEarly Infantile AutismEarly-onset osteoporosisEmotional StressEnvironmental ExposureEnvironmental FactorEnvironmental Risk FactorEscalante syndromeEstrogen deficiencyEtiologyExposure toFamilyFecundabilityFecundityFertilityFractureFragile XFragile X PremutationFragile X SyndromeGap-modifying Protein 1GenesGeneticGenetic ChangeGenetic defectGenetic mutationGenetic predisposing factorGenomicsHealthHeterogeneityHistoryHot flushesHumanIndividualInfantile AutismIntellectual disabilityIntellectual functioning disabilityIntellectual limitationKanner's SyndromeKnowledgeLengthLigand Binding ProteinLigand Binding Protein GeneMajor Depressive DisorderMartin-Bell SyndromeMartin-Bell-Renpenning syndromeMedical HistoryMensesMenstruationMental HealthMental HygieneMental disordersMental health disordersMessenger RNAModern ManMolecularMutationNeurologicNeurologicalOccupationalOrgan SystemOutcomeOvarianPIC 1 ProteinPIC1 ProteinPML-Interacting Clone ProteinPathogenicityPathway interactionsPenetrancePersonal Medical HistoryPersonal Medical History EpidemiologyPhenotypePopulationPopulation DatabasePremature ovarian insufficiencyPropertyProtein BindingProtein GMP1ProteinsProteomeProteomicsPsychiatric DiseasePsychiatric DisorderPsychological HealthQOLQuality of lifeQuestionnairesRecording of previous eventsRecordsRenpenning syndrome 2Reproductive FactorsReproductive HealthReproductive HistoryReproductive History EpidemiologyReproductive IssuesResearchResearch ResourcesResourcesRiskRisk FactorsSMT3C ProteinSUMO-1 ProteinSUMO1 geneSamplingSentrin 1SeriesSeveritiesSleepSurvey InstrumentSurveysSymptomsTestingToxic effectToxicitiesTranscriptTranslationsTransmissionUBL1 ProteinUbiquitin-like 1 Gene ProductUpdateWomanWorkX-linked mental deficiency-megalotestes syndromeX-linked mental retardation with fragile X syndromeX-linked mental retardation-fragile site 1 syndromeagesautism spectral disorderautism spectrum disorderautism-fragile X (AFRAX) syndromeautistic spectrum disorderbiobankbiorepositorybone fracturebound proteincausationclinical depressionclinical significanceclinically significantcoronary disorderdeficiency in estrogendisease causationdisease riskdisorder riskearly onseteffective interventionentire genomeenvironmental riskexperiencefamily buildingfra(X) syndromefra(X)(28) syndromefra(X)(q27) syndromefra(X)(q27-28) syndromefragile X-mental retardation syndromefragile Xq syndromefragile site mental retardation 1full genomegenetic associationgenetic risk factorgenome mutationgenome sequencingglobal gene expressionglobal transcription profilegmp1historieshot flashhuman modelimprovedinherited factorinnovateinnovationinnovativeintellectual and developmental disabilitykidslife changelife spanlifespanlimited intellectual functioningmRNAmRNA Leader Sequencesmacro-orchidism-marker X (MOMX) syndromemacro-orchidism-marker X syndromemajor depressionmajor depression disordermar(X) syndromemarker X syndromemenstrual periodmental illnessmental retardation-macroorchidism syndromemetabolism measurementmetabolomicsmetabonomicsmodel of humanmolecular biomarkermolecular markermonthly periodmonthly periodsmortalitymouse modelmultidisciplinarymurine modelneuropsychiatric diseaseneuropsychiatric disordernoveloffspringpathwaypic1polypeptideprimary infertilityprimary ovarian insufficiencypsychiatric illnesspsychological disorderrecruitreproductiveresponsesmt3csmt3h3subfertilitysumo-1sumo1synergismtherapeutic targettooltranscriptometranslationtransmission processubl1whole genomeyounger ageyoungster
Description preview
Abstract - Project 3
Up to an estimated 1 in 151 women carry a fragile X premutation (PM) allele, impacting over one million
women in the US. In addition to being at risk for having a child with fragile X syndrome (FXS), the most
common genetic form of intellectual and developmental disability and autism spectrum disorder, women with a
PM are also…
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