Genetic and Kidney Cyst Diseases

The paper identifies 73 gene-trait associations between ciliary genes and common laboratory traits in the UK BioBank, revealing distinct roles of ciliary subcompartments in common disease pathogenesis.

This paper establishes an adult zebrafish model of PKD using tmem67 mutants, identifies mTOR inhibition as a potential therapy, and reveals ciliary abnormalities as a primary defect.

This study creates Bbs5 mouse models to investigate ciliary function, revealing developmental origins of specific BBS phenotypes like pituitary anomalies and infertility.

This study identifies GRDN-1 as a regulator of dendrite extension and cilium positioning in C. elegans sensory neurons, showing distinct regulatory mechanisms in AQR and PQR neurons.

This study investigates immune and hematopoietic system alterations in Bardet-Biedl Syndrome patients and a mouse model, finding increased autoimmune disease incidence, elevated white blood cell counts, and B cell abnormalities.

This study uses C. elegans to analyze pathogenic missense variants in B9D2/mksr-2 associated with Joubert Syndrome, showing their impact on ciliary structure and function.

The paper introduces LUHMES, a ciliated human neuronal cell model, and shows its utility for studying cilia biology and ciliopathies across neuronal development.

This paper presents a high-throughput imaging assay for characterizing PRPF31 missense variants using CRISPR-edited cells, providing evidence for variant classification.

The paper identifies genes that regulate microtubule glutamylation and ciliary integrity in C. elegans, showing their role in preventing neuronal ciliary degeneration.

The paper identifies two RABL2A variants causing male infertility and ciliopathies by combining in silico predictions, protein stability assays, and mouse modeling.

The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.

This study reveals the molecular structure of primary cilia using cryo-electron tomography, showing a transition from a 9+0 microtubule arrangement to an unstructured bundle of microtubule singlets and actin filaments.

The paper shows strain-dependent survival differences in Zfp423 null mice, identifying a modifier locus on chromosome 5 that influences viability.

The paper uses live imaging to show Emx2 pre-patterns hair cell centriole migration, which determines hair bundle orientation in the mouse utricle.

The paper shows that mutating KIF3A's phosphorylation site T674 to Ala in mice does not reproduce the severe ciliopathy defects seen with CILK1 loss of function.

This study identifies a hypomorphic Spag17 allele in mice that causes PCD-like phenotypes, revealing differential roles of SPAG17 in motile cilia development and hydrocephalus.

The paper shows that primary cilia regulate neuronal migration through cAMP/PKA signaling at the centrosome, with genetic and imaging experiments demonstrating the role of ciliary Adenylate Cyclase 3 and centrosomal PKA.

The paper shows that localized mRNA translation mediated by RNP granules is essential for cytoplasmic cilia formation in Drosophila spermatogenesis.

This study identifies wampa as a dynein subunit critical for outer dynein arm assembly and male fertility in Drosophila, revealing its role in spermatogenesis and mitochondrial/nuclear remodeling.

The paper identifies rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia, suggesting a potential link between dynein dysfunction and these conditions.

This study investigates the roles of Thm1 and Thm2 in cilia function and embryogenesis using mouse embryonic fibroblasts, revealing their distinct and overlapping contributions to ciliary dynamics and signaling.

This study shows that ARL13B's function outside cilia is critical for Sonic Hedgehog signaling, while its role within cilia is dispensable for Shh transduction.

The paper shows that Reissner fiber is critical for CSF-contacting neurons to detect spinal curvature in zebrafish larvae.

The paper identifies widespread and defined expression patterns of CEP164 in human embryonic and foetal tissues, with similar patterns observed in mice, suggesting conserved developmental roles contributing to multi-system disease.

The paper simulates particle transport in the mouse node to assess how cilia-driven flow might lead to left-right asymmetry, finding that uniform random release best matches experimental data.

The paper develops a model of flagellar length control in Chlamydomonas reinhardtii, showing that a limiting pool of IFT proteins leads to an inverse growth-rate-length relationship and identifies coupling mechanisms that enable simultaneous length control.

This study investigates the role of Daam1 and ArhGEF19 in renal ciliogenesis using mammalian kidney cells and Xenopus embryos, finding that Daam1's formin activity is critical for cilia formation.

This study identifies Cxcr4a's role in linking cell cycle progression and cilia formation in zebrafish DFCs to establish left-right symmetry.

This study shows STK11 is essential for ciliated cell differentiation by regulating MARK3 and ERK1/2 signaling in airway progenitors.

The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.