Genetic and Kidney Cyst Diseases

This paper develops a microstructure-based model of primary cilia, distinguishing structural and sensing components, and finds that membrane curvature, not stretching, may activate transmembrane proteins.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

The paper assesses the molecular phenotype of SEC61A1 R236C mutation in two patient-derived cellular models, finding reduced autophagy, cAMP synthesis, and increased calcium leakiness, with similar overall effects across cell types.

This study identifies XAP5 and XAP5L as antagonistic transcription factors that regulate ciliary gene expression during spermatogenesis, with XAP5 promoting and XAP5L inhibiting ciliary transcription factors at different stages.

This study identifies Poc1 as a basal body protein that stabilizes triplet microtubules and interconnections, enhancing resistance to ciliary forces.

The paper identifies the MBO2 complex as a regulator of inner arm dynein b assembly in cilia and reveals its structural organization on doublet microtubules.

This study identifies BLTP2 as a negative regulator of ciliogenesis, functioning as a lipid transfer protein between ER and tubular endosomes.

This study identifies CEP170 as a protein interacting with dynein-2, showing its role in dynein-2 assembly and cilia function through effects on intraflagellar transport and Hedgehog signaling.

This study shows Rab35 is essential for embryonic development and kidney/ureter homeostasis by regulating epithelial cell junctions, leading to hydronephrosis in mice.

This study investigates cilia length regulation in zebrafish by analyzing intraflagellar transport (IFT) speed and particle size, finding that longer cilia have faster IFT and that reducing IFT particle size shortens cilia.

This study identifies two modules, Cep131-Cep162 and Cby-Fam92, that cooperatively maintain Cep290 at the basal body and initiate ciliogenesis.

The paper investigates how primary cilia influence human neuron differentiation via the WNT signaling pathway, identifying a critical 'ciliary time window' for axon development.

The paper identifies RBL2 as a repressor of Multicilin's transcriptional activity, showing it inhibits multiciliogenesis in airway epithelial cells.

The paper investigates the role of Kif6 in ependymal cilia motility and polarity, finding that its loss causes decreased cilia movement and hydrocephalus in mice.

The paper uses cryo-electron tomography to reveal structural features of photoreceptor cilia in mouse retinas, including the basal body, Y-links, and ciliary necklace.

This study identifies TTLL12 as a novel microtubule regulator required for primary ciliary axoneme formation in polarized epithelial cells.

The paper shows that CXCL12 modulates the ciliary cAMP/cGMP ratio to control cell polarity and directed migration in cortical interneurons.

The paper investigates the role of BBS1 in suppressing mesenchymal cell identities in epithelial cells, showing clonal variability and dysregulation of EMT genes across tissues.

This study identifies RIC-8's role in cilia morphogenesis in C. elegans sensory neurons and uncovers its interaction with AGS-3 and ODR-3.

The paper functionally characterizes human genetic variants by creating and analyzing matching variants in C. elegans using CRISPR/Cas9.

The paper shows that choroid plexus cilia undergo axoneme resorption through microtubule destabilization, controlled by polyglutamylation and spastin, and is conserved in human samples.

This study identifies MiniBAR as a dual Rac and Rab effector essential for ciliogenesis, showing its role in coordinating actin dynamics and membrane trafficking.

The paper identifies a frameshift mutation in Pkhd1 causing a cystic liver phenotype in mice and shows alternative splicing leads to reduced Pkhd1 protein levels and attenuated renal cystic disease.

The paper identifies concurrent loss of ciliary genes WDR93 and CFAP46 in multiple bird species and discusses implications for host-pathogen interactions and pathogen surveillance.

This study shows that AK7 deficiency in Xenopus leads to ciliary defects, reduced centriole numbers, and impaired mucociliary flow, linking AK7 to primary ciliary dyskinesia.

This study identifies FKH-8 as a master regulator of the primary ciliome in C. elegans, showing its role in gene expression, cilium morphology, and sensory behaviors.

The paper shows that leftward transfer of PKD1L1 polycystin channels initiates left-dominant calcium signaling in mouse embryos, linking nodal flow to laterality.

The paper investigates the role of fluid mechanics in left-right symmetry breaking during zebrafish embryo development and finds that mechanosensing, not fluid content, drives this process.

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

This study shows that ARL13B in cilia inhibits kidney cyst formation in mice, and this function is independent of its role as a GEF for ARL3.