Featured Publications
Genetic Analysis of Severe Polycystic Liver Disease in Japan
Mizuno H, Besse W, Sekine A, Long K, Kurihara S, Oba Y, Yamanouchi M, Hasegawa E, Suwabe T, Sawa N, Ubara Y, Somlo S, Hoshino J. Genetic Analysis of Severe Polycystic Liver Disease in Japan. Kidney360 2024, 5: 1106-1115. PMID: 38689396, PMCID: PMC11371350, DOI: 10.34067/kid.0000000000000461.Peer-Reviewed Original ResearchSevere polycystic liver diseaseAutosomal dominant polycystic kidney diseaseDisease genesPolycystic liver diseasePKD2 patientsGenetic analysisWhole-exome sequencingSuspected pathogenic variantsLiver diseaseSpectrum of phenotypesPKD2 variantsExome sequencingAutosomal dominant polycystic kidney disease cohortPathogenic variantsPKD2PKD1Genetic etiologyDominant polycystic kidney diseaseGenesPolycystic kidney diseaseKidney cystsNo significant differenceKidney volumePLD patientsKidney disease
2005
Variation in IL-1β gene expression is a major determinant of genetic differences in arthritis aggressivity in mice
Ohmura K, Johnsen A, Ortiz-Lopez A, Desany P, Roy M, Besse W, Rogus J, Bogue M, Puech A, Lathrop M, Mathis D, Benoist C. Variation in IL-1β gene expression is a major determinant of genetic differences in arthritis aggressivity in mice. Proceedings Of The National Academy Of Sciences Of The United States Of America 2005, 102: 12489-12494. PMID: 16113081, PMCID: PMC1194932, DOI: 10.1073/pnas.0504325102.Peer-Reviewed Original ResearchConceptsInbred strainsWhole-genome scanQuantitation of transcriptsInterleukin-1 gene familyConventional inbred strainsWild-derived strainsComplex genetic controlSequence haplotypesGenomic regionsGenetic lociNoncoding polymorphismsCandidate genesGenetic analysisGenetic differencesBALB/c haplotypeGenetic controlGene expressionIL-1B gene expressionBreeding strategiesBreeding schemesIL1B geneGenesSerum-transfer arthritisStrainHigh-responder BALB/c