2021
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease
Kubo S, Fritz J, Raquer-McKay H, Kataria R, Vujkovic-Cvijin I, Al-Shaibi A, Yao Y, Zheng L, Zou J, Waldman A, Jing X, Farley T, Park A, Oler A, Charles A, Makhlouf M, AbouMoussa E, Hasnah R, Saraiva L, Ganesan S, Al-Subaiey A, Matthews H, Flano E, Lee H, Freeman A, Sefer A, Sayar E, Çakır E, Karakoc-Aydiner E, Baris S, Belkaid Y, Ozen A, Lo B, Lenardo M. Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease. Nature Immunology 2021, 23: 75-85. PMID: 34937930, PMCID: PMC11060421, DOI: 10.1038/s41590-021-01093-y.Peer-Reviewed Original ResearchMeSH KeywordsA549 CellsADAM17 ProteinAnimalsCarrier ProteinsChildChild, PreschoolCitrobacter rodentiumColitisCytokinesEnterobacteriaceae InfectionsFemaleHEK293 CellsHumansInfant, NewbornMacrophagesMaleMiceMice, Inbred C57BLMutationPrimary Immunodeficiency DiseasesPseudomonas aeruginosaPseudomonas InfectionsSignal TransductionConceptsIRhom2 deficiencyLoss-of-function mutationsLocal microbial environmentLoss of iRhom2Diverse clinical phenotypesRecurrent respiratory infectionsWild-type miceRelease of cytokinesTumor necrosis factorHemorrhagic colitisCitrobacter rodentiumADAM17 metalloproteinaseFecal microbiotaSuperfamily membersRecurrent infectionsRecurrent pneumoniaTumor necrosisLung involvementColonic involvementHuman immunodeficiencyInflammatory colitisMicrobial environmentOral speciesPseudomonas aeruginosaColitis patients
2019
Understanding risk and resilience in maltreated children
Kaufman J, Montalvo-Ortiz J, Lee R. Understanding risk and resilience in maltreated children. 2019, 304-323. DOI: 10.1093/oso/9780198793014.003.0021.ChaptersHistory of abuseMaltreated youthRelevant empirical workFunctional brain changesPsychiatric disordersMeta-analytic studyMultiple brain regionsCognitive processesSubstance use disordersMaltreated childrenBrain measuresGenetic factorsPoor treatment responseDistinct psychiatric disordersResiliency StudyNeural plasticityBrain regionsChild abuseChild maltreatmentBrain changesEnrichment experiencesDiverse clinical phenotypesUse disordersPositive supportClinical interventions
2017
Application of “Omics” and Systems Biology to Sarcoidosis Research
Crouser ED, Fingerlin TE, Yang IV, Maier LA, Nana-Sinkam P, Collman RG, Kaminski N. Application of “Omics” and Systems Biology to Sarcoidosis Research. Annals Of The American Thoracic Society 2017, 14: s445-s451. PMID: 29053026, PMCID: PMC5822413, DOI: 10.1513/annalsats.201707-567ot.Peer-Reviewed Original ResearchConceptsSystems biology researchBiology researchSystems biologyDistinct genetic mechanismsNumerous genetic mutationsField of sarcoidosisGenetic mechanismsDiverse clinical phenotypesOmicsMechanistic underpinningsComprehensive profilingPolygenic diseaseGenetic mutationsDiverse diseasesBiologyAdvanced computational approachesEnormous data setsComputational approachClinical phenotypeOrganismsPolygenicMutationsDisease-related mortalityPhenotypeLife-altering symptoms
2014
FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family
Gündüz A, Eken A, Bilgiç B, Hanagasi HA, Bilgüvar K, Günel M, Başak A, Ertan S. FBXO7–R498X mutation: Phenotypic variability from chorea to early onset parkinsonism within a family. Parkinsonism & Related Disorders 2014, 20: 1253-1256. PMID: 25169713, DOI: 10.1016/j.parkreldis.2014.07.016.Peer-Reviewed Original ResearchConceptsEarly-onset parkinsonismPostural instabilityIndex caseFBXO7 mutationsPallido-pyramidal syndromeTremor-dominant parkinsonismIntrafamilial phenotypic variationDiverse clinical phenotypesMild parkinsonismClinical spectrumSevere apathyAtypical featuresParkinsonismOnset parkinsonismClinical phenotypeConsanguineous parentsMonogenic causesChoreaExomic sequencingSpeech problemsElder sisterGenetic findingsKurdish originPatientsMaternal grandfather
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