2025
Gene-dose effect of the glutathione biosynthesis gene on ascorbate deficiency in mice
Strand R, Orlicky D, Chen Y. Gene-dose effect of the glutathione biosynthesis gene on ascorbate deficiency in mice. Biochemical And Biophysical Research Communications 2025, 766: 151900. PMID: 40294460, PMCID: PMC12058385, DOI: 10.1016/j.bbrc.2025.151900.Peer-Reviewed Original ResearchConceptsGene-dose effectAscorbate deficiencyTissue GSH levelsDouble-knockoutVitamin CDietary vitamin CAllele dosage effectGlutamate-cysteine ligaseMiceClinical interplayGSH levelsOxidative stressBrain tissueRedox imbalanceGCLMDosage effectBrain functionDeficiencyGlutathione biosynthesis genesIncreased vulnerabilityBrainPhenotypic outcomesModifier subunitRedox balanceGSH biosynthesis
2019
Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency
Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT. Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency. Journal Of Bone And Mineral Research 2019, 35: 528-539. PMID: 31805212, PMCID: PMC7184798, DOI: 10.1002/jbmr.3911.Peer-Reviewed Original ResearchConceptsAutosomal recessive hypophosphatemic rickets type 2ENPP1 deficiencyEarly-onset osteoporosisGene-dose effectOnset osteoporosisAsj/Bone mineral density scansBone mineralization disturbancesRenal phosphate wastingCortical boneDose effectMild osteomalaciaMineralization disturbancesFGF23 levelsMild elevationPlasma FGF23Arterial calcificationBone massPhosphate wastingSkeletal manifestationsBone fragilityThoracic spineWild-type family membersType 2Adult men
2006
The KCNE2 Potassium Channel Ancillary Subunit Is Essential for Gastric Acid Secretion*
Roepke TK, Anantharam A, Kirchhoff P, Busque SM, Young JB, Geibel JP, Lerner DJ, Abbott GW. The KCNE2 Potassium Channel Ancillary Subunit Is Essential for Gastric Acid Secretion*. Journal Of Biological Chemistry 2006, 281: 23740-23747. PMID: 16754665, DOI: 10.1074/jbc.m604155200.Peer-Reviewed Original ResearchConceptsAncillary subunitsKCNE gene familyGastric acid secretionPotassium channel alpha subunitFirst genetic evidenceSecretory cellsProton secretionChannel alpha subunitGene familyKCNE familyParietal cell morphologyAcid secretionGenetic evidenceAlpha subunitHuman cardiac arrhythmiasParietal cellsChannel complexSubunitsCell morphologyKCNE2Normal gastrointestinal functionGenesKCNQ1Gene-dose effectCells
2003
The HRAS1 variable number of tandem repeats and risk of breast cancer.
Tamimi RM, Hankinson SE, Ding S, Gagalang V, Larson GP, Spiegelman D, Colditz GA, Krontiris TG, Hunter DJ. The HRAS1 variable number of tandem repeats and risk of breast cancer. Cancer Epidemiology Biomarkers & Prevention 2003, 12: 1528-30. PMID: 14693748.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAllelesBreast NeoplasmsCase-Control StudiesDNA, NeoplasmFemaleGenes, rasGenetic Predisposition to DiseaseGenotypeHumansLogistic ModelsMiddle AgedMinisatellite RepeatsPolymerase Chain ReactionPolymorphism, GeneticProbabilityPrognosisReference ValuesRisk AssessmentSensitivity and SpecificityTandem Repeat SequencesConceptsHealth Study cohortBreast cancer casesBreast cancerCancer casesNurses' Health Study cohortIncident breast cancer casesHRAS1 VNTRHRAS1 variable numberBreast cancer riskCase-control studyGene-dose effectRare HRAS1 allelesMenopausal statusStudy cohortCancer riskOverall associationCancerHRAS1 allelesRiskRare allelesAssociationCommon allelesAllelesVariable numberCohort
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