Genetic and Kidney Cyst Diseases

This study shows the MCC cell cycle variant accelerates centriole biogenesis by overlapping two cycles to produce multiple mature centrioles without cell division.

This study shows vimentin is present at the primary cilium and its depletion causes structural and morphological defects in cilia and centriolar organization.

ciliR is an R package that measures ciliary beat frequency using fast-Fourier transformation, validated against manual counting and other methods, showing comparable accuracy.

This study identifies Edf1 as an essential transcription activator for multiciliogenesis, showing its role in ciliary gene expression and its impact on hydrocephalus in mice.

The paper identifies cell-specific tubulin and IFT cargo proteins that generate a non-canonical transition zone in cilia through microtubule loss and reorganization.

The paper investigates how reduced dosage of dynein arm preassembly factors affects cilia regeneration in Chlamydomonas reinhardtii, finding that double heterozygosity limits dynein arm assembly.

The paper investigates the impact of hypertension on the positive predictive value (PPV) for polycystic kidney disease in carriers of PKD1 and PKD2 variants.

This study shows that renal fibrosis induced by injury promotes cyst formation and growth in adult ADPKD mice, and targeting EZH2 can reduce fibrosis and cyst growth.

This study shows that losing cilia after neurulation in zebrafish affects brain development and reduces neuronal activity.

The paper identifies 57 high-confidence LC8 partners in the ciliary-centrosomal system, revealing motif evolution and expansion of the LC8 interactome.

The paper investigates how cilia motility influences the formation of left-right asymmetry in the basal bodies of mouse node cilia, showing it occurs independently of fluid flow and visceral organ laterality.

This study shows that GDF15 regulates primary cilia morphology in the murine ventricular-subventricular zone, affecting progenitor proliferation through ciliary signaling.

The paper identifies subtype variations in radial spokes of Tetrahymena cilia, revealing Rsp3 paralogs-dependent structures and novel associated enzymes involved in ADP/ATP regulation and phosphorylation.

This study maps cilia length and orientation across mouse brain regions over 24 hours, revealing region-specific circadian rhythms and non-random orientation patterns.

This study investigates the role of cilia in structural birth defects by analyzing Ift140 deficiency in mice, revealing both cell autonomous and non-cell autonomous mechanisms in craniofacial and heart development.

This study shows that disrupting centrosome biogenesis in nephron progenitor cells causes kidney developmental defects and fibrocystic disease through reduced cell populations, premature differentiation, and altered signaling pathways.

This study shows that impaired centrosome biogenesis in kidney stromal progenitors reduces interstitial cell abundance and accelerates fibrosis after injury.

CilioGenics integrates multiple methodologies to predict novel ciliary genes, identifying 256 new candidates with 31 experimentally validated.

This study identifies the prevalence of a conventional PKD1 variant in cats and discovers four new PKD1 variants in exon 15 associated with ADPKD.

The paper identifies drug targets and repurposing candidates for ADPKD by analyzing gene expression signatures from mouse Pkd2 models using signature reversion.

This study shows that inhibiting centrosome clustering reduces cyst growth and improves kidney function in ADPKD by activating p53-mediated apoptosis.

This study investigates allelic and gene dosage effects of UMOD mutations in ADTKD, showing toxic aggregates and ER stress contribute to kidney disease progression.

This study shows that fibronectin deficiency in newborn mice causes renal cyst formation and structural damage, highlighting its role in kidney development and function.

The paper investigates how astrocytes respond to neuronal primary cilia loss in aging brains, finding that aging exacerbates reduced lysosomal capacity and ciliation in astrocytes.

The paper generates a new mouse model to study Polycystin-1's mitochondrial localization and function, identifying Nnt as a binding partner and showing NAC treatment benefits in Nnt+/+ mice.

This study investigates the role of CEP164 in photoreceptor cilia formation and function by deleting it at different developmental stages in mice, showing that CEP164 is critical for IFT-B recruitment and ciliary maintenance.

This study investigates how alternative splicing, specifically nonsense-associated altered splicing (NAS), affects the pathogenesis of CEP290-related ciliopathies by analyzing splicing patterns and ciliogenesis in induced pluripotent stem cells.

This study identifies C21orf2 mutations in ALS as causing cilia dysfunction and impaired sonic hedgehog signaling in motor neurons.

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