Genetic and Kidney Cyst Diseases

IFT-A deficiency in juvenile mice impairs biliary development and exacerbates ADPKD liver disease

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.

Quinomycin A reduces cyst progression in Polycystic Kidney 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.

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants

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

Thm2 interacts with paralog, Thm1, and sensitizes to Hedgehog signaling in postnatal skeletogenesis

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

Ciliary neuropeptidergic signaling dynamically regulates excitatory synapses in postnatal neocortical pyramidal neurons

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

Shulin packages axonemal outer dynein arms for ciliary targeting

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

Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis

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.

mtor Haploinsufficiency Ameliorates Renal Cyst Formation in Adult Zebrafish tmem67 Mutants

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.

The C. elegans DAF-19M module: a shift from general ciliogenesis to ciliary and behavioral specialization

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.

A Bbs5 mouse model reveals pituitary cilia contributions to developmental abnormalities.

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

Girdin regulates dendrite morphogenesis and cilium position in two specialized sensory neuron types in C. elegans

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.

Altered hematopoietic system and self-tolerance in Bardet-Biedl Syndrome

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.

Cilia-independent requirements for Ccdc103 promoting proliferation and migration of myeloid cells

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.

Interpreting the pathogenicity of Joubert Syndrome missense variants in Caenorhabditis elegans

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.

Differentiation of ciliated human midbrain-derived LUHMES neurons

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

High-throughput PRPF31 variant characterisation pipeline consistent with ACMG/AMP clinical variant interpretation guidelines

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

Mutation of NEKL-4/NEK10 and TTLL genes opposes loss of the CCPP-1 deglutamylase and prevents neuronal ciliary degeneration

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

Variants in RABL2A causing male infertility and ciliopathy

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

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

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

The molecular structure of primary cilia revealed by cryo-electron tomography

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.

Strain-dependent modifier genes determine survival in Zfp423 mice

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

Live imaging of hair bundle polarity acquisition in the mouse utricle demonstrates a critical timeline for transcription factor Emx2

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

Phosphosite T674A mutation in kinesin family member 3A fails to reproduce tissue and ciliary defects characteristic of CILK1 loss of function

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.

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

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.

Reduced Fgf signaling during early zebrafish development causes ciliopathy-associated phenotypes

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

Primary cilium-dependent cAMP/PKA signaling at the centrosome regulates neuronal migration

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.

Ciliary signaling-patterned smooth muscle drives tubular elongation

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.

DYRK2 is a ciliary kinase involved 1 in vertebrate Hedgehog signal transduction

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

Retracing the evolution of kinesin-2 deployment from mouse to worm

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

Pleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling

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