2018
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation
Gulati A, Bale AE, Dykas DJ, Bia MJ, Danovitch GM, Moeckel GW, Somlo S, Dahl NK. TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD—A Novel Presentation. American Journal Of Kidney Diseases 2018, 72: 895-899. PMID: 29941221, DOI: 10.1053/j.ajkd.2018.05.006.Peer-Reviewed Original ResearchConceptsRenal thrombotic microangiopathyThrombotic microangiopathyTREX1 mutationsRetinal microangiopathyChronic kidney diseaseRepair exonuclease 1Whole-exome sequencingSignificant brainSymptomatic brainTREX1 variantsKidney involvementClinical presentationKidney diseaseCerebral leukodystrophyComplement dysregulationMicroangiopathyClinical importanceDiverse causesComplement regulationNovel presentationSubstantial proportionBrainSignificant proportionGenetic determinantsCause
2014
The Kidney Research National Dialogue: Gearing Up to Move Forward
Bonventre JV, Boulware LE, Dember LM, Freedman BI, Furth SL, Holzman LB, Ketchum CJ, Little MH, Mehrotra R, Moe SM, Sands JM, Sedor JR, Somlo S, Star RA, Rys-Sikora KE. The Kidney Research National Dialogue: Gearing Up to Move Forward. Clinical Journal Of The American Society Of Nephrology 2014, 9: 1806-1811. PMID: 25225184, PMCID: PMC4186514, DOI: 10.2215/cjn.07310714.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBiomedical ResearchCareer ChoiceCooperative BehaviorDiffusion of InnovationEducation, MedicalHealth PrioritiesHumansInterdisciplinary CommunicationInternational CooperationKidney DiseasesNational Institute of Diabetes and Digestive and Kidney Diseases (U.S.)NephrologyPrognosisRisk FactorsUnited StatesConceptsKidney Research National DialogueKidney functionKidney diseaseNational InstituteInterventional studyTreatment strategiesClinical investigationTrial designResponsive outcomesDiseaseNephrology workforceCommunity implementationDiabetesFoster translationDigestiveEntire seriesKidney biologyAdditional reviewKidney researchNational dialogueSeries of commentariesFuture research effortsDiagnosisDiscovery researchPreventionFilling the Holes in Cystic Kidney Disease Research
Guay-Woodford LM, Henske E, Igarashi P, Perrone RD, Reed-Gitomer B, Somlo S, Torres VE, Ketchum CJ, Star RA, Flessner MF, Rasooly RS. Filling the Holes in Cystic Kidney Disease Research. Clinical Journal Of The American Society Of Nephrology 2014, 9: 1799-1801. PMID: 24903391, PMCID: PMC4186512, DOI: 10.2215/cjn.03410414.Peer-Reviewed Original ResearchConceptsKidney diseaseCystic kidney diseaseKidney Research National DialoguePublic health problemKidney disease researchKidney functionDisease progressionCystic diseaseHealth problemsDiseaseCyst formationNational InstituteDisease researchVariable responseDiabetesPathogenesisDigestiveProgressionPrevention