{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Getwan M"],"funding":["Swiss National Science Foundation","Deutsche Forschungsgemeinschaft","HHS | NIH | National Institute of Diabetes and Digestive and Kidney Diseases","EC | Horizon 2020"],"pagination":["e2106770118"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8488674"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["118(39)"],"pubmed_abstract":["Skeletal ciliopathies (e.g., Jeune syndrome, short rib polydactyly syndrome, and Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other organ manifestations. Despite recent progress in genetic mapping of causative loci, a common molecular mechanism of cartilage defects and cystic kidneys has remained elusive. Targeting two ciliary chondrodysplasia loci (ift80 and ift172) by CRISPR/Cas9 mutagenesis, we established models for skeletal ciliopathies in Xenopus tropicalis Froglets exhibited severe limb deformities, polydactyly, and cystic kidneys, closely matching the phenotype of affected patients. A data mining-based in silico screen found ttc30a to be related to known skeletal ciliopathy genes. CRISPR/Cas9 targeting replicated limb malfor"],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pubmed_title":["Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease."],"pmcid":["PMC8488674"],"funding_grant_id":["310030_189102/1","Li 1817/2-1","NCCR Kidney.CH","754825","431984000","310030","192904750","KO 3598-5/1","189102","390939984","R01DK068306"],"pubmed_authors":["Hoppmann A","Hildebrandt F","Diehl R","Lausch E","Kottgen A","Getwan M","Deutsch K","Schlosser P","Lienkamp SS","Grand K","Schroda S","Song W","Heeg F"],"additional_accession":[]},"is_claimable":false,"name":"Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.","description":"Skeletal ciliopathies (e.g., Jeune syndrome, short rib polydactyly syndrome, and Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other organ manifestations. Despite recent progress in genetic mapping of causative loci, a common molecular mechanism of cartilage defects and cystic kidneys has remained elusive. Targeting two ciliary chondrodysplasia loci (ift80 and ift172) by CRISPR/Cas9 mutagenesis, we established models for skeletal ciliopathies in Xenopus tropicalis Froglets exhibited severe limb deformities, polydactyly, and cystic kidneys, closely matching the phenotype of affected patients. A data mining-based in silico screen found ttc30a to be related to known skeletal ciliopathy genes. CRISPR/Cas9 targeting replicated limb malfor","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Sep","modification":"2025-04-18T15:40:45.017Z","creation":"2025-04-07T02:24:19.781Z"},"accession":"S-EPMC8488674","cross_references":{"pubmed":["34548398"],"doi":["10.1073/pnas.2106770118"]}}