2018
Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis
Park E, Cho M, Hyun H, Shin J, Lee J, Park Y, Choi H, Kang H, Cheong H. Genotype–Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney & Blood Pressure Research 2018, 43: 513-521. PMID: 29627839, DOI: 10.1159/000488698.Peer-Reviewed Original ResearchMeSH KeywordsAcidosis, Renal TubularAdolescentAnion Exchange Protein 1, ErythrocyteChildChild, PreschoolDNA Mutational AnalysisFemaleGenetic Association StudiesGrowthHearing Loss, SensorineuralHumansKidney Tubules, DistalMaleMutationNephrocalcinosisRepublic of KoreaVacuolar Proton-Translocating ATPasesConceptsDistal renal tubular acidosisRenal tubular acidosisSLC4A1 mutationsATP6V1B1 mutationsRenal functionTubular acidosisPrimary distal renal tubular acidosisLong-term follow-upPersistent growth retardationSensorineural hearing lossDecreased renal functionSevere metabolic acidosisLong-term prognosisMilder disease severityGenotype-phenotype correlationGenotype-phenotype analysisATP6V0A4 mutationsHearing lossPediatric patientsMetabolic acidosisNovel mutationsFollow-upGenetic testingGrowth retardationPathogenic mutationsIdentification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis
Zhou X, Chen Y, Mok K, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu A, Guo Q, Ip N, Saykin A, Toga A, Borowski B, Ward C, DeCarli C, Mathis C, Jack C, Harvey D, Holtzman D, Jones D, Gessert D, Lilly E, Reiman E, Franklin E, Hefti F, Sorensen G, Jimenez G, Fillit H, Gunter J, Salazar J, Hsiao J, Morris J, Trojanowki J, Neu K, Kantarci K, Faber K, Harless K, Chen K, Nho K, Beckett L, Thal L, Thal L, Shaw L, Kuller L, Shen L, Hergesheimer L, Taylor-Reinwald L, Mesulam M, Korecka M, Raichle M, Carrillo M, Albert M, Senjem M, Bernstein M, Donohue M, Weiner M, Figurski M, Buckholtz N, Fox N, Cairns N, Schuff N, Foster N, Aisen P, Thompson P, Davies P, Snyder P, Snyder P, Vemuri P, Frank R, Koeppe R, Green R, Petersen R, Walter S, Paul S, Potkin S, Kim S, Foroud T, Montine T, Lee V, Jagust W, Potter W, Cabrera Y, Khachaturian Z, Fleisher A, Pierce A, Mintz A, Lerner A, Norbash A, Levey A, Rosen A, Smith A, Ulysse A, Budson A, Kertesz A, Oliver A, Hake A, Burke A, Sarrael A, Porsteinsson A, Lamb A, Lee A, Raj B, Lane B, Yanez B, Ances B, Mudge B, Lind B, Stefanovic B, Goldstein B, Bonakdarpour B, Matthews B, Ott B, Reynolds B, Miller B, Spann B, Sadowsky C, Bernick C, Smith C, Onyike C, Heyn C, Hosein C, Leach C, Belden C, van Dyck C, Clark C, Wu C, Albers C, Brand C, Bodge C, Tatsuoka C, Carlsson C, Mathews D, D’Agostino D, Silverman D, Marson D, Wolk D, Bachman D, Clark D, Geldmacher D, Hart D, Knopman D, Perry D, Winkfield D, Miller D, Kerwin D, Drost D, Simpson D, Munic D, Scharre D, Bartha R, Celmins D, Zimmerman E, Teng E, Coleman E, Zamrini E, Mitsis E, Finger E, Oates E, Sosa E, Woo E, Rogalski E, Fletcher E, Parfitt F, Thai G, Marshall G, Conrad G, Tremont G, Bartzokis G, Hsiung G, Chiang G, Pearlson G, Jicha G, Vanderswag H, Grossman H, Capote H, Bergman H, Chertkow H, Feldman H, Rosen H, Koleva H, Shim H, Rachinsky I, Mintzer J, Ziolkowski J, Brewer J, Lah J, Singleton-Garvin J, Cellar J, Brosch J, Tinklenberg J, Karlawish J, Villanueva-Meyer J, Kaye J, Burns J, Petrella J, Yesavage J, Allard J, Lord J, Hetelle J, Brockington J, Morris J, Olichney J, Rogers J, Quinn J, Kass J, Taylor J, Heidebrink J, Anderson K, Blank K, Smith K, Bell K, Johnson K, Tingus K, DeMarco K, Sink K, Johnson K, Makino K, Spicer K, Nam K, Martin K, Poki-Walker K, Johnson K, Fargher K, Lipowski K, Womack K, Flashman L, Honig L, Apostolova L, Teodoro L, Silbert L, Ravdin L, Schneider L, Daiello L, Ismail M, Seltzer M, Mesulam M, Carroll M, Kataki M, Greig-Custo M, Love M, Mintun M, Farlow M, Sadowski M, Creech M, Hynes M, Quiceno M, Oakley M, Becerra M, Witbracht M, Keltz M, Lamar M, Yang M, Borrie M, Lin M, Assaly M, Rainka M, Dang M, Sheikh M, Gaikwad M, Chowdhury M, Trncic N, Johnson N, Kowalksi N, Pacini N, Kowall N, Graff-Radford N, Relkin N, Oyonumo N, Pomara N, James O, Ogunlana O, Lopez O, Carmichael O, Doraiswamy P, Fatica P, Johnson P, Samuels P, Malloy P, Ogrocki P, Maillard P, Hardy P, Tariot P, Lu P, Varma P, Doody R, Carter R, Shah R, Griffith R, Yeh R, Duara R, Tarawneh R, Turner R, Hernando R, Sperling R, Carson R, El Khouli R, Santulli R, Killiany R, Rodriguez R, Swerdlow R, Borges-Neto S, Black S, Weintraub S, Asthana S, Vaishnavi S, Dolen S, Mason S, Kremen S, Herring S, Sirrel S, Kittur S, Pawluczyk S, Schneider S, Kielb S, Reeder S, Correia S, Pasternack S, Pasternak S, Salloway S, Johnson S, Chao S, Arnold S, Schultz S, Rountree S, Lee T, Wong T, Villena T, Obisesan T, Pavlik V, Bates V, Sossi V, Shibley V, Brooks W, Pavlosky W, Stern Y, Simon A, Dongre A, Dean B, Navia B, Spellman D, Lee D, Shera D, Siemers E, Pickering E, Swenson F, Immerman F, Nomikos G, Soares H, Wan H, Seeburger J, Waring J, Trojanowski J, Siuciak J, Duffin K, Shaw L, Wang L, Thambisetty M, Walton M, Savage M, Ferm M, Kuhn M, Buckholtz N, Zagouras P, Cole P, Hendrickson R, Xie S, Allauzen S, Koroshetz W, Potter W. Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: 1697-1706. PMID: 29432188, PMCID: PMC5828602, DOI: 10.1073/pnas.1715554115.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseChinese populationAD subjectsDisease pathogenesisImmune systemPlasma biomarker levelsEarly disease onsetMinor allele carriersAlzheimer's disease (AD) pathogenesisGenetic risk factorsImmune-related pathwaysCommon variantsGenotype-phenotype analysisDisease onsetRisk factorsBiomarker levelsLeading causeOnset ageAllele carriersAD riskAD cohortPossible risk effectsFunctional effectsExpression levelsRegulatory effects
2016
Genotype–phenotype analysis of pediatric patients with WT1 glomerulopathy
Ahn Y, Park E, Kang H, Kim S, Cho H, Shin J, Lee J, Park Y, Kim K, Ha I, Cheong H. Genotype–phenotype analysis of pediatric patients with WT1 glomerulopathy. Pediatric Nephrology 2016, 32: 81-89. PMID: 27300205, DOI: 10.1007/s00467-016-3395-4.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentChildChild, PreschoolDisorders of Sex DevelopmentDrug ResistanceFemaleGenotypeGlomerulonephritisGonadoblastomaHumansInfantInfant, NewbornKidney Failure, ChronicMaleMutationMutation, MissenseNephrotic SyndromeOvarian NeoplasmsPhenotypeRepublic of KoreaSurvival AnalysisTreatment OutcomeWilms TumorWT1 ProteinsConceptsSteroid-resistant nephrotic syndromeDisorders of sexual developmentEnd-stage renal diseaseWT1 mutationsNephrotic syndromeChildhood-onset steroid-resistant nephrotic syndromeSplicing mutationAnalysis of pediatric patientsProgression to end-stage renal diseaseAnalyzed genotype-phenotype correlationsMissense mutationsPediatric SRNS patientsDevelopment of malignancyGenotype-phenotype correlationGenotype-phenotype analysisGenotype-specific risksSRNS patientsXX karyotypeXY karyotypeWilms tumorMutation groupPediatric patientsDiaphragmatic defectRenal diseaseGenetic diagnosis
2007
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations
Trizzino A, Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter J, Griffiths G, Santoro A, Filipovich A, Aricò M, group F. Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. Journal Of Medical Genetics 2007, 45: 15. PMID: 17873118, DOI: 10.1136/jmg.2007.052670.Peer-Reviewed Original ResearchConceptsNatural killer activityAssociated with younger ageGenotype-phenotype analysisPerforin expressionNK activityPRF1 mutationsCytotoxic functionHistiocyte SocietyJapanese patientsGene mutationsIn-frame deletionKiller activityNonsense mutationFlow cytometryPatientsMissense mutationsG-->AType 2Younger ageMutationsPRF1MissenseNonsenseAgeData pooling
2003
Genotype–phenotype analysis for the polymorphic CA repeat in the insulin-like growth factor-I (IGF-I) gene
Kato I, Eastham J, Li B, Smith M, Yu H. Genotype–phenotype analysis for the polymorphic CA repeat in the insulin-like growth factor-I (IGF-I) gene. European Journal Of Epidemiology 2003, 18: 203-209. PMID: 12800944, DOI: 10.1023/a:1023379100539.Peer-Reviewed Original ResearchConceptsPlasma IGF-I levelsIGF-I levelsInsulin-like growthPlasma IGFHospital-based case-control studyCase-control studyGenotype-phenotype analysisCA repeat lengthInverse associationOverall functional significanceProstate cancerStudy subjectsHealthy individualsChance findingWhite womenIGFRacial subgroupsDirect sequencingPositive associationCancerBlack menNumber of CaFunctional significanceAssociationPolymorphic CA
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