Genetic and Kidney Cyst Diseases

This study identifies esrr{gamma}a's role in nephron development and ciliogenesis through prostaglandin signaling and cooperation with ppargc1a.

This study shows that upregulation of polycystins in fibrotic kidneys promotes renal fibrosis and cyst growth in ADPKD mice, and that inhibiting polycystins reduces fibrosis and cyst progression.

The paper shows that mispatterning of cilia-generated flow in the brain ventricles contributes to epilepsy and seizure susceptibility.

This paper generates Ccdc28b mutant mice and finds they exhibit social behavioral defects and autism-like features, suggesting a link between CCDC28B and autism spectrum disorder beyond its role as a modifier of Bardet-Biedl syndrome.

The paper investigates how Bicc1's interaction with ANKS3 and ANKS6 modulates RNA condensation in RNPs, showing that ANKS3 inhibits and ANKS6 enhances Bicc1's mRNA binding.

This study shows that IFT20 is essential for early chondrogenesis during endochondral ossification by regulating FGF signaling and Sox9 expression.

This study uses C. elegans to interpret the pathogenicity of ciliopathy-associated missense VUS by testing their functional impact on sensory cilia.

This study identifies WDR31 as a ciliary protein that functions redundantly with ELMOD and RP2 to regulate IFT trains via BBSome, affecting cilia morphology and IFT dynamics.

This study shows that INPP5E negatively regulates Sonic Hedgehog signaling in human cortical organoids, promoting dorsal telencephalic identity and preventing ventralization.

The paper identifies a regulatory module in C. elegans IL2 neurons that specifies ciliary identity and behavior through DAF-19M, with conserved roles in nictation and mating.

This study identifies Ccdc103's role in myeloid cell proliferation and migration independent of cilia, showing its interaction with SPAG6 and defects in zebrafish mutants.

The paper identifies a role for FGF signaling in balancing polycystin and urotensin pathways to achieve a straight body axis in zebrafish.

This study shows that ciliary signaling patterns smooth muscle, which generates mechanical forces that activate YAP to drive longitudinal growth in the developing esophagus and small intestine.

This paper identifies DYRK2 as a ciliary kinase involved in Hedgehog signal transduction, showing its role in ciliary morphology and skeletal development.

This study investigates how kinesin-2 homologs evolved different functions in mice and worms through adaptor protein interactions and regulatory switches.

The paper shows that FOXC1 affects ciliation and cilia-dependent signaling, contributing to pleiotropic phenotypes in Axenfeld-Rieger Syndrome.

This study shows that knocking down Tinagl1 in zebrafish embryos causes heart laterality defects, ciliary abnormalities, and spinal cord issues, linking it to ciliopathy and signaling pathways.

The paper identifies a cilium-independent function of BBSome in regulating the stability of the non-ciliary LITE-1 receptor in C. elegans ASH neurons.

The paper shows that multiciliated cells can trans-differentiate into secretory cells during developmental remodeling in Xenopus, induced by changes in signaling pathways.

This study identifies ANKHD1 as a driver of ADPKD by promoting proliferation and fibrosis, showing its inhibition could be therapeutically beneficial.

The paper presents a high-resolution cryo-EM structure of a human BBSome core subcomplex, revealing its open conformation and interactions with cargo and membrane components.

This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.

This paper shows that INPP5E regulates phospholipid distribution in cilia of mouse olfactory neurons, affecting odor response adaptation but not sensitivity.

The paper identifies Gpr63 as a genetic modifier of microcephaly in Ttc21b mouse mutants by linking a QTL to a missense mutation affecting ciliary localization.

The paper shows that midline cilia are necessary to establish the midline barrier, overriding Lefty1 expression in left-right asymmetry formation.

This study identifies the cell-lineage specific localization of primary cilia in the epididymis during post-natal development and confirms their association with disease-related proteins.

This study identifies C11orf70 mutations as a cause of primary ciliary dyskinesia, showing they disrupt IFT-dependent dynein arm assembly and cilia motility.