• A global analysis of IFT-A function reveals specialization for transport of membrane-associated proteins into cilia
• Can a hand radiograph indicate a special diagnosis in a child with chronic kidney disease? Answers
• Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease
• Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur
• Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
• Early-onset severe retinal dystrophy as the initial presentation of IFT140-related skeletal ciliopathy
• Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
• Hereditary sclerosing glomerulopathy in the conorenal syndrome
• IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report
• IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association
• Mainzer-Saldino syndrome caused by IFT140 gene variation
• Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations
• Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype
• Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome
• Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
• Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
• Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease--the conorenal syndromes
• Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
• Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses
• The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy
• Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140