2020
The M1 muscarinic acetylcholine receptor in the crypt stem cell compartment mediates intestinal mucosal growth
Greig CJ, Armenia SJ, Cowles RA. The M1 muscarinic acetylcholine receptor in the crypt stem cell compartment mediates intestinal mucosal growth. Experimental Biology And Medicine 2020, 245: 1194-1199. PMID: 32611198, PMCID: PMC7437377, DOI: 10.1177/1535370220938375.Peer-Reviewed Original ResearchConceptsMuscarinic acetylcholine receptorsM1 muscarinic acetylcholine receptorAcetylcholine receptorsStem cell compartmentPotential future therapeutic targetsCell compartmentIntestinal mucosal homeostasisIntestinal mucosal growthFuture therapeutic targetsMucosal homeostasisMucosal growthTherapeutic targetSpecific subtypesProliferative parametersReceptorsFuture studiesDemonstrate increasesCritical roleNovel informationCompartmentsSubtypes
2017
Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome
Hirschtritt M, Darrow S, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman C, Cath D, Greenberg E, Lyon G, Yu D, McGrath L, McMahon W, Lee P, Delucchi K, Scharf J, Mathews C. Genetic and phenotypic overlap of specific obsessive-compulsive and attention-deficit/hyperactive subtypes with Tourette syndrome. Psychological Medicine 2017, 48: 279-293. PMID: 28651666, PMCID: PMC7909616, DOI: 10.1017/s0033291717001672.Peer-Reviewed Original ResearchConceptsAttention-deficit/hyperactivity disorderSymmetry/exactnessTourette syndromeLatent class analysisSymptom patternsADHD symptomsHigher psychiatric comorbidity ratesPsychiatric comorbidity ratesExploratory factor analysisHyperactive subtypeComorbidity ratesTS patientsClinical relevanceSpecific subtypesSum scoreUnique phenotypicHyperactivity disorderSymptomsPhenotypic overlapThree-class solutionTraditional diagnostic boundariesAggressive urgesSyndromeSubtypesDiagnostic boundaries
2016
Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate
Silberberg SN, Taher L, Lindtner S, Sandberg M, Nord AS, Vogt D, Mckinsey GL, Hoch R, Pattabiraman K, Zhang D, Ferran JL, Rajkovic A, Golonzhka O, Kim C, Zeng H, Puelles L, Visel A, Rubenstein JLR. Subpallial Enhancer Transgenic Lines: a Data and Tool Resource to Study Transcriptional Regulation of GABAergic Cell Fate. Neuron 2016, 92: 59-74. PMID: 27710791, PMCID: PMC5063253, DOI: 10.1016/j.neuron.2016.09.027.Peer-Reviewed Original ResearchConceptsGABAergic cell fateEnhancer activityTranscriptional regulationCell fateNovel molecular mechanismStable transgenic mouse linesTranscriptional circuitryTransgenic linesTranscription factorsTranscriptional mechanismsDifferent enhancer elementsFate mapEnhancer elementsMolecular mechanismsTransgenic mouse lineForebrain developmentDistinct domainsMouse linesRegulationAmygdala neuronsBasal gangliaFateSpecific subtypesMutantsUnique tool
2014
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il’yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML, Consortium T. Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma. Journal Of The National Cancer Institute 2014, 107: dju384. PMID: 25482530, PMCID: PMC4296199, DOI: 10.1093/jnci/dju384.Peer-Reviewed Original ResearchConceptsShelterin complex genesDNA bindingComplex genesFamilial gliomaWhole-exome sequencingPOT1 mutationsCommon brain tumorTreatment of gliomaGenetic contributionAdditional mutationsOrigin of gliomasMutationsPOT1TPP1Exome sequencingHistological subtypesMalignancy gradeSeparate cohortBrain tumorsSpecific subtypesFuture diagnosticsGermline mutationsGliomasFamilySubtypesRegulatory T cells in autoimmune neuroinflammation
Kleinewietfeld M, Hafler DA. Regulatory T cells in autoimmune neuroinflammation. Immunological Reviews 2014, 259: 231-244. PMID: 24712469, PMCID: PMC3990868, DOI: 10.1111/imr.12169.Peer-Reviewed Original ResearchConceptsRegulatory T cellsT cellsAutoimmune neuroinflammationMultiple sclerosisRegulatory type 1 (Tr1) cellsForkhead box protein 3Natural Treg cellsBox protein 3Experimental animal modelsT helper cell lineagesType 1 cellsTr1 cellsTreg cellsPeripheral toleranceAnimal modelsSpecific subtypesNeuroinflammationProtein 3SubtypesCell typesCell lineagesCellsTregsSclerosis
2011
P2-02-09: TP53 Mutation Patterns in Breast Cancer Subgroups.
Dumay A, Feugeas J, Wittmer E, Lehmann-Che J, Bertheau P, Espié M, de C, André F, Sotiriou C, Pusztai L, de T. P2-02-09: TP53 Mutation Patterns in Breast Cancer Subgroups. Cancer Research 2011, 71: p2-02-09-p2-02-09. DOI: 10.1158/0008-5472.sabcs11-p2-02-09.Peer-Reviewed Original ResearchLuminal tumorsMolecular apocrineBreast cancerTP53 mutationsDifferent molecular subclassesLuminal B subgroupMolecular apocrine tumoursTruncating mutationsBreast cancer subgroupsBreast cancer subclassesTP53 mutation frequencyFunctional assaysMutation typeTP53 mutation patternsHigh rateTumor protein 53Missense mutationsApocrine tumorsBasal tumorsLuminal subgroupCancer subgroupsP53 gene inactivationMolecular subclassesBreast tumorsSpecific subtypesAngiotensin II Stimulates H+-ATPase Activity in Intercalated Cells from Isolated Mouse Connecting Tubules and Cortical Collecting Ducts
Wagner CA, Mohebbi N, Uhlig U, Giebisch GH, Breton S, Brown D, Geibel JP. Angiotensin II Stimulates H+-ATPase Activity in Intercalated Cells from Isolated Mouse Connecting Tubules and Cortical Collecting Ducts. Cellular Physiology And Biochemistry 2011, 28: 513-520. PMID: 22116365, PMCID: PMC3709473, DOI: 10.1159/000335112.Peer-Reviewed Original ResearchMeSH KeywordsAngiotensin IIAnimalsAnion Transport ProteinsBicarbonatesCell MembraneChloridesColchicineHydrogen-Ion ConcentrationImmunohistochemistryKidney CortexKidney Tubules, CollectingMacrolidesMaleMiceMice, Inbred C57BLReceptors, AngiotensinSaralasinSodiumSulfate TransportersVacuolar Proton-Translocating ATPasesConceptsCNT/CCDAngiotensin IICortical collecting ductsBicarbonate secretionChloride absorptionCollecting ductsType 1 angiotensin II receptorAngiotensin II stimulatesAngiotensin II receptorsAcid-base statusConnecting tubuleATPase activityII receptorsSpecific subtypesNephron segmentsIndependent intracellularAcid extrusionType BSecretionTubulesDuct systemDuctPendrinPresent studyCells
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