2023
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease
Gulati A, Dahl N, Hartung E, Clark S, Moudgil A, Goodwin J, Somlo S. Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease. Kidney360 2023, 4: 387-392. PMID: 36706243, PMCID: PMC10103195, DOI: 10.34067/kid.0000000000000064.Peer-Reviewed Original Research
2019
Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD
Gulati A, Sevillano AM, Praga M, Gutierrez E, Alba I, Dahl NK, Besse W, Choi J, Somlo S. Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD. Kidney International Reports 2019, 5: 103-108. PMID: 31922066, PMCID: PMC6943786, DOI: 10.1016/j.ekir.2019.09.004.Peer-Reviewed Original Research
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
2012
Evaluation of urine biomarkers of kidney injury in polycystic kidney disease
Parikh CR, Dahl NK, Chapman AB, Bost JE, Edelstein CL, Comer DM, Zeltner R, Tian X, Grantham JJ, Somlo S. Evaluation of urine biomarkers of kidney injury in polycystic kidney disease. Kidney International 2012, 81: 784-790. PMID: 22258321, PMCID: PMC3319327, DOI: 10.1038/ki.2011.465.Peer-Reviewed Original ResearchMeSH KeywordsAcute-Phase ProteinsAdultAnimalsBiomarkersDisease ProgressionFemaleHumansInterleukin-18KidneyKidney Failure, ChronicLipocalin-2LipocalinsLongitudinal StudiesMaleMiceMice, KnockoutMice, TransgenicOncogene ProteinsPolycystic Kidney, Autosomal DominantProto-Oncogene ProteinsRatsRats, Mutant StrainsRats, Sprague-DawleyReceptors, Interleukin-18TRPP Cation ChannelsConceptsAutosomal dominant polycystic kidney diseaseTotal kidney volumeKidney volumeIL-18Polycystic kidney diseaseKidney diseaseCyst fluidRenal tubular integrityIL-18 levelsRenal Disease equationSerial urine samplesGlomerular filtration rateModification of DietExpression of Lcn2Min/yearPolycystic Kidney Disease (CRISP) studyUrine of patientsDominant polycystic kidney diseaseKidney Disease studyUrinary collecting systemMean percentage increaseSPRD rat modelUrinary NGALUrine NGALKidney injury