Genetic and Kidney Cyst Diseases

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

This study shows that Hedgehog signaling is non-cell autonomously activated in the interstitium of cystic kidneys in Arl13b mutant mice and that inhibiting this pathway reduces cyst burden and fibrosis.

The paper identifies disruptions in the FGF23-PTH axis in a ciliopathy model and shows that combining a FGFR inhibitor with a PTH agonist rescues micrognathia.

The paper quantifies the relative rates of axonemal deployment for cilia beating machineries during the final stages of differentiation in Xenopus multiciliated cells.

This study shows that cilia regulate meiotic recombination in zebrafish by affecting double strand break repair, crossover formation, and germ cell survival.

This study shows that deleting the IFT-A gene Thm1 in ADPKD mouse models has development-specific effects on kidney cysts, inflammation, and cilia length, suggesting environmental factors influence ciliary homeostasis and disease progression.

This study shows that Bbs1 is essential for maintaining photoreceptor outer segment lipid composition and function, with loss leading to early visual deficits and retinal degeneration.

This study identifies UBE2E1 and MKS1 as components of the ubiquitin proteasome system regulating Wnt signaling at the primary cilium, linking ciliary defects to ciliopathy pathogenesis.

This study identifies Lrrcc1 and Ccdc61 as essential components of basal bodies in multiciliated cells, showing their role in ciliary function and fluid flow in Xenopus embryos.

This study shows that JNK signaling promotes cyst growth in ADPKD by enhancing cell proliferation and that inhibiting JNK reduces cyst severity.

This study investigates the role of cilia-related genes in mitochondrial dynamics during Drosophila spermatogenesis and identifies their essential function in male fertility.

The paper identifies an evolutionarily conserved genetic interaction between nphp-4 and bbs-5 mutations that exacerbates ciliopathy phenotypes across C. elegans, zebrafish, and mice.

This study shows that MCH system activation shortens brain neuronal primary cilia, while its inactivation lengthens them, revealing a causal role of MCH in cilia regulation.

The paper characterizes motile ciliated cells in zebrafish brain ventricles, showing their developmental origins, functional roles in CSF flow, and impact on ventricular morphology.

The paper shows APP localizes to cilia in vertebrates and is essential for ciliogenesis and brain development in zebrafish.

The paper identifies TTC30A/B as a key gene in ciliary chondrodysplasia and nephronophthisis-like disease using CRISPR/Cas9 in Xenopus tropicalis models.

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.

The paper identifies and functionally characterizes MIPs lost in RIB72A/B knockout Tetrahymena cells using proteomics and cryo-electron tomography.

This study shows that ciliary and extraciliary Gpr161 pools repress hedgehog signaling differently in various tissues, affecting developmental outcomes.

This study investigates whether Pkd1 mutation affects peroxisome structure or lipid metabolism in ADPKD models, finding no significant disruptions in peroxisome biogenesis or fatty acid metabolism.

The paper investigates the role of ARL13B in cerebellar development using mouse models, showing its critical role in cerebellar vermis hypoplasia and superior cerebellar peduncle targeting, likely through Hedgehog signaling.

The paper develops a strategy to fluorescently tag MCHR1, a ciliary GPCR, in vivo using CRISPR/Cas9, revealing its localization to neuronal cilia and identifying a new knockout line with altered synaptic strength.

This study shows that CEP164 is essential for multiciliogenesis in efferent ducts, leading to male infertility due to sperm agglutination and duct obstruction.

This study shows that Thm1 deletion in juvenile Pkd2 mice worsens biliary development and PLD, while adult Thm1 deletion has no effect, highlighting distinct roles of IFT-A and IFT-B in liver disease.

This study shows Quinomycin A reduces cyst progression in PKD by inhibiting Notch signaling and normalizing cilia lengths in a mouse model and human cells.

The paper investigates hair cell defects in zebrafish alms1 mutants and finds no hair cell phenotypes despite their metabolic similarities to Alstrom Syndrome.

This study identifies Thm2 as a novel locus that interacts with Thm1 and sensitizes to Hedgehog signaling in postnatal skeletal development, leading to osteochondrodysplasia.

This study shows that ciliary neuropeptidergic signaling dynamically modulates excitatory synapses in postnatal neocortical pyramidal neurons, with SSTR3 playing a key role.

The paper identifies two factors, Q22YU3 and Q22MS1, that package axonemal outer dynein arms for ciliary targeting in Tetrahymena.