article_metadata: Zachary T Sentell Lina Mougharbel Zachary W Nurcombe Sima Babayeva Marc Henein Lee Lee Chu Murielle M Akpa Chen-Fang Chung Jean-Baptiste Rivière Mihaela Pupavac Rui Li David S Rosenblatt Jacek Majewski Paul R Goodyer Elena Torban Thomas M Kitzler
article_metadata: 10.1093/hmg/ddae182
article_metadata: Hum Mol Genet
article_metadata: 2025 Feb 8;34(4):368-380.
article_metadata: c2cd3 chronic kidney disease ciliopathy hypomorphic variants nephronophthisis
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39690811/
article_metadata: Cilia / genetics Cilia / metabolism Cilia / pathology Fibroblasts / metabolism Hedgehog Proteins / genetics Hedgehog Proteins / metabolism Heterozygote
article_metadata: Cilia / genetics Cilia / metabolism Cilia / pathology Fibroblasts / metabolism Hedgehog Proteins / genetics Hedgehog Proteins / metabolism Heterozygote Case Reports Cell Line Ciliopathies / genetics Epithelial Cells / metabolism Epithelial Cells / pathology Exome Sequencing Female Humans Kidney Diseases, Cystic / genetics Kidney Diseases, Cystic / pathology Male Mutation, Missense Phenotype Signal Transduction / genetics Hedgehog Proteins SHH protein, human
article_metadata: PMC11811416
article_metadata: 39690811
article_metadata: Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis
article_metadata: 2025