2025
PTEN inactivating mutations are associated with hormone receptor loss during breast cancer recurrence
Zhan H, Antony V, Tang H, Theriot J, Liang Y, Hui P, Krishnamurti U, DiGiovanna M. PTEN inactivating mutations are associated with hormone receptor loss during breast cancer recurrence. Breast Cancer Research And Treatment 2025, 211: 441-447. PMID: 40063317, DOI: 10.1007/s10549-025-07660-3.Peer-Reviewed Original ResearchConceptsPten inactivating mutationsBreast cancerER+/HER2- tumorsRecurrent tumorsER+/HER2- breast cancer patientsInactivating mutationsAssociated with worse clinical outcomesTreatment historyER+/HER2- breast cancerTriple negative phenotypeBreast cancer recurrenceBreast cancer patientsHormone receptor lossResultsThe average timeHR+ tumorsDistant recurrenceHR statusER expressionRecurrent diseaseTumor histologyTumor recurrenceHER2 expressionHormone independencePatient ageClinicopathological characteristics
2024
Novel treatment for PXE: Recombinant ENPP1 enzyme therapy
Jacobs I, Obiri-Yeboah D, Stabach P, Braddock D, Li Q. Novel treatment for PXE: Recombinant ENPP1 enzyme therapy. Molecular Therapy 2024, 32: 3815-3820. PMID: 39342427, PMCID: PMC11573614, DOI: 10.1016/j.ymthe.2024.09.028.Peer-Reviewed Original ResearchAbcc6<sup>-/-</sup> micePseudoxanthoma elasticumAbcc6<sup>-/-</sup> mouse model of pseudoxanthoma elasticumPPI levelsMouse model of pseudoxanthoma elasticumModel of pseudoxanthoma elasticumEnzyme therapyEctopic calcificationPlasma PPi levelsMuzzle skinDose-dependent elevationHepatic efflux transportersPrevent ectopic calcificationPlasma PPiABCC6 geneATP secretionTherapeutic optionsDose-dependentlyEfflux transportersInactivating mutationsENPP1 activitySubcutaneous injectionWeeks of ageNovel treatmentCalcification disordersIL-27 Gene Therapy Ameliorates IPEX Syndrome Caused by Germline Mutation of Foxp3 Gene: A Major Role for Induction of IL-10.
Liu J, Jabbari A, Lin C, Akkanapally V, Frankel W, Basu S, He K, Zheng P, Liu Y, Bai X. IL-27 Gene Therapy Ameliorates IPEX Syndrome Caused by Germline Mutation of Foxp3 Gene: A Major Role for Induction of IL-10. The Journal Of Immunology 2024, 213: 559-566. PMID: 38975727, PMCID: PMC11333164, DOI: 10.4049/jimmunol.2400056.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDependovirusDiabetes Mellitus, Type 1DiarrheaForkhead Transcription FactorsGenetic Diseases, X-LinkedGenetic TherapyGerm-Line MutationHumansImmune System DiseasesInterleukin-10Interleukin-27InterleukinsIntestinal DiseasesLymphocyte ActivationMiceMice, Inbred C57BLMice, KnockoutT-Lymphocytes, RegulatoryConceptsScurfy miceIL-10Gene therapySingle doseGermline mutationsIL-27X-linked (IPEX) syndromeAllogeneic stem cell transplantationInactivating mutationsNaive T cell activationTherapeutic effectRegulatory T cell developmentMutations of FOXP3IL-10 deficiencyRegulatory T cellsStem cell transplantationDownregulation of CD62LT cell activationInduction of IL-10T cell developmentFatal autoimmune diseaseEffector moleculesUpregulation of CD44FOXP3 mutationsIL-10 inductionStructure and mechanism of the human CTDNEP1–NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology
Gao S, Rodríguez J, Bahmanyar S, Airola M. Structure and mechanism of the human CTDNEP1–NEP1R1 membrane protein phosphatase complex necessary to maintain ER membrane morphology. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2321167121. PMID: 38776370, PMCID: PMC11145253, DOI: 10.1073/pnas.2321167121.Peer-Reviewed Original ResearchConceptsProtein phosphatase complexPhosphatase complexER membrane biogenesisHigh-resolution crystal structuresProtein serine/threonine phosphatasesCancer-associated mutationsDevelopment of medulloblastomaMembrane biogenesisSubstrate recognitionER expansionActive siteRegulatory subunitSubstrate peptideMammalian cellsSerine/threonine phosphataseIdentical phenotypesArg residuesMolecular detailsSubunit 1Phosphatase 1Inactivating mutationsPeptide sequencesAggressive childhood cancerMutationsPhosphatase activityLKB1 prevents ILC2 exhaustion to enhance antitumor immunity
Niu H, Zhang H, Wang D, Zhao L, Zhang Y, Zhou W, Zhang J, Su X, Sun J, Su B, Qiu J, Shen L. LKB1 prevents ILC2 exhaustion to enhance antitumor immunity. Cell Reports 2024, 43: 113579. PMID: 38670109, DOI: 10.1016/j.celrep.2023.113579.Peer-Reviewed Original ResearchAntitumor immunityPD-1Tumor immunityExpression of programmed cell death protein 1Group 2 innate lymphoid cellsBlockade of PD-1Cell death protein 1Lung melanoma metastasesAntitumor immune responseRegulating tumor immunityNuclear factor of activating T cells pathwayT-cell pathwayLiver kinase B1ILC2 functionMelanoma metastasesILC2sLymphoid cellsAllergic inflammationImmune homeostasisEffector functionsInactivating mutationsImmune responseHuman cancersCell pathwaysProtein 1
2018
[18F]Fluorocholine and [18F]Fluoroacetate PET as Imaging Biomarkers to Assess Phosphatidylcholine and Mitochondrial Metabolism in Preclinical Models of TSC and LAM
Verwer E, Kavanagh T, Mischler W, Feng Y, Takahashi K, Wang S, Shoup T, Neelamegam R, Yang J, Guehl N, Ran C, Massefski W, Cui Y, El-Chemaly S, Sadow P, Oldham W, Kijewski M, Fakhri G, Normandin M, Priolo C. [18F]Fluorocholine and [18F]Fluoroacetate PET as Imaging Biomarkers to Assess Phosphatidylcholine and Mitochondrial Metabolism in Preclinical Models of TSC and LAM. Clinical Cancer Research 2018, 24: 5925-5938. PMID: 30054282, PMCID: PMC6816044, DOI: 10.1158/1078-0432.ccr-17-3693.Peer-Reviewed Original ResearchMeSH KeywordsAgedAnimalsBiomarkersCholineDisease Models, AnimalFemaleFluoroacetatesHeterograftsHumansImage Processing, Computer-AssistedImmunohistochemistryLipid MetabolismLymphangioleiomyomatosisMaleMiceMice, TransgenicMitochondriaOxygen ConsumptionPhosphatidylcholinesPositron-Emission TomographyRatsTuberous SclerosisConceptsTuberous sclerosis complexMetabolic imaging biomarkersPreclinical modelsImaging biomarkersTSC2-deficient cellsStandardized uptake valueTuberous sclerosis complex manifestationsModels of tuberous sclerosis complexAutosomal dominant disorderPotential clinical interestBenign tumorsOvariectomized miceUptake valueSubcutaneous tumorsPreclinical studiesPulmonary nodulesCystic destructionLymphangioleiomyomatosisDominant disorderProliferative lesionsInactivating mutationsTumorMetabolic reprogrammingNeurocognitive impairmentPET imaging
2017
NOD2 deficiency exacerbates imiquimod-induced, psoriasis-like dermatitis
Singh T, Cipolla E, Singh S, Farber J. NOD2 deficiency exacerbates imiquimod-induced, psoriasis-like dermatitis. The Journal Of Immunology 2017, 198: 75.17-75.17. DOI: 10.4049/jimmunol.198.supp.75.17.Peer-Reviewed Original ResearchNucleotide-Binding Oligomerization DomainNod2-/- micePsoriasis-like dermatitisToll-like receptorsIL-22Levels of mRNAPattern recognition proteinsIL-17AUp-regulation of NOD2Inhibition of Toll-like receptorImiquimod-treated skinRecognition proteinsDecreased levels of mRNAOligomerization domainAutoimmune skin diseaseIncreased levels of mRNAWild-type controlsExpression of mRNAInactivating mutationsAntibacterial defenseImiquimod-inducedNOD2 deficiencyNOD2 functionT cellsIL-1ra
2011
DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors
Jiao Y, Shi C, Edil B, de Wilde R, Klimstra D, Maitra A, Schulick R, Tang L, Wolfgang C, Choti M, Velculescu V, Diaz L, Vogelstein B, Kinzler K, Hruban R, Papadopoulos N. DAXX/ATRX, MEN1, and mTOR Pathway Genes Are Frequently Altered in Pancreatic Neuroendocrine Tumors. Science 2011, 331: 1199-1203. PMID: 21252315, PMCID: PMC3144496, DOI: 10.1126/science.1200609.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingCarcinoma, Pancreatic DuctalChromatin Assembly and DisassemblyClass I Phosphatidylinositol 3-KinasesCo-Repressor ProteinsDNA HelicasesGenes, Tumor SuppressorHumansMolecular ChaperonesMutationNeuroendocrine TumorsNuclear ProteinsPancreatic NeoplasmsPhosphatidylinositol 3-KinasesPrognosisProto-Oncogene ProteinsPTEN PhosphohydrolaseSequence Analysis, DNASignal TransductionTOR Serine-Threonine KinasesTuberous Sclerosis Complex 2 ProteinTumor Suppressor ProteinsX-linked Nuclear ProteinConceptsPancreatic neuroendocrine tumorsMutated genesHistone methyltransferase complexNeuroendocrine tumorsDeath domain-associated proteinAssociated with better prognosisSomatic inactivating mutationsMethyltransferase complexChromatin remodelingRemodeling complexExome sequencingPathway genesGenetic basisMTOR pathway genesClinically important formEncoding meninInactivating mutationsGenesMutationsBetter prognosisStratify patientsMTOR inhibitorsPanNETsPancreatic neoplasiaTumor
2006
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction.
Rosenthal S, Feldman B, Vargas G, Gitelman S. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a paradigm for activating mutations causing endocrine dysfunction. Pediatric Endocrinology Reviews : PER 2006, 4 Suppl 1: 66-70. PMID: 17261972.Peer-Reviewed Original ResearchConceptsActivating mutationsLevels of arginine vasopressinMutations of G protein-coupled receptorsAntidiuretic hormone secretionNephrogenic diabetes insipidusV2 vasopressin receptorNephrogenic syndromeV2R mutationsDiabetes insipidusArginine vasopressinClinical presentationAntidiuretic hormoneVasopressin signalingG protein-coupled receptorsEndocrine dysfunctionVasopressin receptorsHormone secretionInactivating mutationsGain-of-functionUndetectable levelsNSIADVasopressinAntidiuresisMutationsPatients
2004
Inactivating mutations of proapoptotic Bad gene in human colon cancers
Lee J, Soung Y, Kim S, Nam S, Kim C, Cho Y, Lee J, Kim H, Park W, Kim S, Lee J, Yoo N, Lee S. Inactivating mutations of proapoptotic Bad gene in human colon cancers. Carcinogenesis 2004, 25: 1371-1376. PMID: 15033904, DOI: 10.1093/carcin/bgh145.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAlternative SplicingApoptosisbcl-Associated Death Proteinbcl-X ProteinCarrier ProteinsCell LineCell Line, TumorColonic NeoplasmsDose-Response Relationship, DrugElectrophoresis, Polyacrylamide GelExonsHumansImmunoblottingImmunohistochemistryMutagenesis, Site-DirectedMutationMutation, MissensePlasmidsPolymorphism, Single-Stranded ConformationalPrecipitin TestsProtein Structure, TertiaryProto-Oncogene Proteins c-bcl-2Sequence Analysis, DNATransfectionConceptsCell death functionProapoptotic memberBad genesSomatic mutationsSplice siteBAD mutantsBad mutationsMembers of Bcl-2 familyBcl-2Inactivating mutationsProapoptotic member of Bcl-2 familyBcl-xL/Bcl-2-associated death promoterBcl-2 familyFunction of BADGenetic alterationsWild-type BADIntrinsic apoptosis pathwayDeregulation of apoptosisCo-immunoprecipitation assaysHuman cancersSomatic missense mutationsColon cancerApoptosis-related genesDevelopment of human cancersMechanisms of cancer development
2003
Inactivating mutations of CASPASE-7 gene in human cancers
Soung Y, Lee J, Kim H, Park W, Kim S, Lee J, Park J, Cho Y, Kim C, Park Y, Nam S, Jeong S, Kim S, Lee J, Yoo N, Lee S. Inactivating mutations of CASPASE-7 gene in human cancers. Oncogene 2003, 22: 8048-8052. PMID: 12970753, DOI: 10.1038/sj.onc.1206727.Peer-Reviewed Original ResearchConceptsCaspase-7 geneCaspase-7Inactivating mutationsSplice siteWild-type caspase-7Human solid cancersGenetic alterationsDetection of somatic mutationsHuman cancersT cellsSolid cancersDevelopment of human cancersApoptotic functionCoding regionSomatic mutationsGenesMutationsEsophageal carcinomaHead/neck carcinomasGene mutationsColon carcinomaHuman malignanciesUrinary bladderCarcinomaApoptosisInactivating mutations of caspase-8 gene in colorectal carcinomas
Kim H, Lee J, Soung Y, Park W, Kim S, Lee J, Park J, Cho Y, Kim C, Jeong S, Nam S, Kim S, Lee J, Yoo N, Lee S. Inactivating mutations of caspase-8 gene in colorectal carcinomas. Gastroenterology 2003, 125: 708-715. PMID: 12949717, DOI: 10.1016/s0016-5085(03)01059-x.Peer-Reviewed Original ResearchConceptsCaspase-8 geneCaspase-8 mutationCaspase-8Death receptor-induced apoptosisActivation of caspase-8Apoptosis activationInactivating mutationsSingle-strand conformation polymorphismSomatic mutationsReceptor-induced apoptosisDetection of somatic mutationsDysregulation of apoptosisDominant-negative inhibitionInitiator caspasesCaspase cascadeApoptotic functionColorectal carcinomaDNA sequencesCoding regionConformation polymorphismNonsense mutationMissense mutationsPathogenesis of cancer developmentLate stages of colorectal carcinogenesisMutants
2002
Alterations of Fas-pathway genes associated with nodal metastasis innon-small cell lung cancer
Shin M, Kim H, Lee S, Lee J, Song Y, Kim Y, Park W, Kim S, Lee S, Park J, Lee J, Xiao W, Jo K, Wang Y, Lee K, Park Y, Kim S, Lee J, Yoo N. Alterations of Fas-pathway genes associated with nodal metastasis innon-small cell lung cancer. Oncogene 2002, 21: 4129-4136. PMID: 12037669, DOI: 10.1038/sj.onc.1205527.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAllelesApoptosisBase SequenceCarcinoma, Non-Small-Cell LungCarrier ProteinsCaspase 10Caspase 8Caspase 9CaspasesDNA Primersfas ReceptorFas-Associated Death Domain ProteinHumansLoss of HeterozygosityLung NeoplasmsLymphatic MetastasisMutagenesis, Site-DirectedConceptsFas-mediated apoptosisPathways of Fas-mediated apoptosisNon-small cell lung cancerResistance to Fas-mediated apoptosisTumor-derived mutantsProximal pathwayCancer cell deathApoptosis inductionWild typeInactivating mutationsTransfection studiesCell deathMetastasis of non-small cell lung cancerSomatic mutationsGenesCell lung cancerMutationsRegional lymph nodesApoptosisCancer cellsCancer metastasisMetastasis lesionsPrimary lesionLymph nodesLung cancer
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