Nephronophthisis(NPH),an autosomal recessive tubulo-interstitial nephropathy,is characterized by interstitial inflammation and progressive kidney fibrosis.To date,mutations in more than 25 NPHP genes have been associa...Nephronophthisis(NPH),an autosomal recessive tubulo-interstitial nephropathy,is characterized by interstitial inflammation and progressive kidney fibrosis.To date,mutations in more than 25 NPHP genes have been associated with NPH,resulting in a wide genetic heterogeneity and overlapping clinical phenotypes.展开更多
基金supported by the European Union’s Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie Innovative Training Networks SCILS(No.861329)the Ministere de l’Education Nationale,de la Recherche et de la Technologie(MENRT)+3 种基金supported by the Deutsche Forschungsgemeinschaft(DFG,Nos.KU-1504/8-1,KU-1504/9-1,DFG CRC 1453)supported by the EMBO(No.ALTF927-2013)support from the Institut National de la Santeet de la Recherche Me´dicale(INSERM),the MENRT and the Agence Nationale de la Recherche(ANR,Nos.ANR-10-IAHU-01,ANR 17-RHUS-0002)supported by the ERAEDTA(No.ALTF84-2011).
文摘Nephronophthisis(NPH),an autosomal recessive tubulo-interstitial nephropathy,is characterized by interstitial inflammation and progressive kidney fibrosis.To date,mutations in more than 25 NPHP genes have been associated with NPH,resulting in a wide genetic heterogeneity and overlapping clinical phenotypes.
