Genetic and Kidney Cyst Diseases

The paper uses expansion microscopy to map the 3D microtubule organization in human airway multiciliated cells, revealing the role of NEDD1 in basal foot-dependent microtubule organization.

The paper creates a high-resolution spatial map of cilia-associated proteins in the human fallopian tube using integrated transcriptomics and proteomics.

This study shows that primary cilia in osteoblasts and osteocytes are essential for skeletal development and mechanotransduction, as demonstrated by reduced bone growth and impaired mechanical loading response in knockout mice.

The paper identifies Foxn3 as a transcriptional repressor that limits primary cilia formation in the developing retina by regulating cilia-related genes.

This study shows BICC1 interacts with PKD1 and PKD2, exacerbating ADPKD severity through RNA metabolism, using animal models, genetic studies, and human cohorts.

This study classifies ADPKD-causing missense variants in polycystin-1 into two categories based on their effects on cell surface localization or ion channel function and suggests small-molecule therapies.

This study identifies early vascular transcriptional and metabolic changes preceding microvascular rarefaction in ADPKD using mouse models and human cohorts.

This study identifies TEP-1 as a glial thioester protein essential for cilia organization and intraflagellar transport in C. elegans, linking it to AMD and EODM pathogenesis through ciliary dysfunction.

The paper shows that EB1 surges drive tubulin influx into the outer segments of Drosophila olfactory cilia, promoting cilia growth and stability.

The paper shows that cilia and BBS4 are essential for postnatal pituitary development through Hedgehog signaling.

This paper identifies a six-nucleotide miRNA motif that represses PKD1 and shows that disrupting it improves PKD1 dosage and reduces cyst growth in ADPKD models.

This study identifies ANKMY2's role in ciliary adenylyl cyclase trafficking, showing its suppression reduces cystogenesis in ADPKD models without affecting cAMP levels or cilia structure.

This study shows Notch signaling stabilizes ciliary lengths in lung multiciliated cells, with environmental factors like M. tb infection altering this regulation.

The paper identifies two proteins, Ccdc78 and Ccdc33, at the distal tip of vertebrate motile cilia, showing they are essential for cilia organization, length regulation, and function.

The paper develops a high-throughput workflow to map protein expression and subcellular localization in motile ciliated cells across five human tissues, identifying 180 proteins with varying functional evidence scores.

This study investigates Glis3's role in ADPKD, finding that its dual inactivation with Pkd1 worsens kidney disease, affecting metabolism and circadian function.

This study identifies C2CD3 as a radial organizer of the distal centriole and appendages, revealing its role in structuring the luminal ring and interacting with the DISCO complex.

The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.

This study identifies a tyrosination-dependent mechanism that enables dynein-2 to specifically bind the A-tubule of ciliary doublet microtubules, facilitating retrograde IFT.

This study shows mTORC1 signaling promotes primary cilia elongation by suppressing autophagy, with effects observed in mouse neurons.

This study shows that integrin alpha1 beta1 promotes fibrosis in a mouse model of ADPKD, as its deletion reduces kidney volume, cyst size, and fibrotic markers.

This study shows GPR88 localizes to primary cilia in specific neuronal cell types in the striatum and somatosensory cortex.

This study uses Light Sheet Fluorescence Microscopy to analyze 3D kidney morphology in ADPKD mouse models, identifying biomarkers of tissue deformation.

This study shows that SWI/SNF chromatin remodeling complexes regulate cilia stability and kidney function by modulating foxj1a and rfx2 expression in zebrafish.

The paper creates a Tulp3 quantitative allelic series in mice to determine the dose-response effects of TULP3 on viability, brain development, and kidney disease, finding limited genetic interaction with Zfp423 mutations.

The paper investigates metachronal wave dynamics in the ciliary band of Platynereis dumerelii larvae, revealing local coupling within cells and a role for the nervous system in wave coordination.

This study uses 3D in vitro models to investigate centriole and cilium formation in early mouse embryogenesis, showing their dispensability in some models and importance in others.

This study identifies Tubb6's cell type-specific role in ciliogenesis of Xenopus epidermal multiciliated cells, showing its necessity for motile cilia formation.

The paper evaluates seven GNAI1 disorder variants in C. elegans and human cells to determine their impact on ciliogenesis and neuronal function, identifying conserved and cell-specific mechanisms of dysfunction.

This study identifies Anks3 as a key regulator of cilia-dependent polycystin signaling and shows its essential role in kidney homeostasis.