Genetic and Kidney Cyst Diseases

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Respiratory ciliary abnormalities in heterotaxy beyond primary ciliary dyskinesia: functional and ultrastructural characterisation
medRxiv · 16 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.17.26348660
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Heterogeneity in cilia patterning enables multiple flow functions in Paramecium
bioRxiv · 16 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.02.19.706812
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Pericentrin contains internal adaptor-like sequences that activate dynein directly
bioRxiv · 15 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.22.727342
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Automated Variant Prioritization in Suspected Genetic Kidney Disease
medRxiv · 13 Oct 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.09.29.25336840
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Proteomic mapping of novel tubulin post-translational modifications in Trypanosoma cruzi cytoskeleton
bioRxiv · 9 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.04.09.717369
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Generation of human induced pluripotent stem cell line (CMCi015-A) from a patient with nephronophthisis harboring compound heterozygous loss-of-function variants in the NPHP4 gene.
Stem cell research · 1 Oct 2026 · Case Reports
A human induced pluripotent stem cell line from a nephronophthisis patient with NPHP4 variants exhibits pluripotency and differentiation capacity.
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Endosulfan rewires GSK3β to disrupt primary cilia-dependent Hedgehog signalling
bioRxiv · 30 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.07.03.736336
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Breaking the species barrier: recurrent genomic introgressions from very distant lineages in a ciliate
bioRxiv · 30 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.02.20.707023
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The mutational and clinical spectrum of EYS-associated retinitis pigmentosa in an Eastern European and Northern Asian cohort: two recurrent founder alleles.
Frontiers in Genetics · 28 Sept 2026 · Journal Article
Two recurrent founder alleles account for 39.2% of EYS variants in an Eastern European and Northern Asian cohort with retinitis pigmentosa.
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https://jclub.com.au/a/42861385
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DIRECTION-AWARE INTEGRATED BIOINFORMATICS ANALYSIS REVEALS CONCORDANT AND DISCORDANT MOLECULAR SIGNATURES LINKING TYPE 2 DIABETES MELLITUS AND POLYCYSTIC OVARY SYNDROME
bioRxiv · 25 Sept 2026 · Preprint
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Spatial separation provides the force-coupling mechanism for the spindle assembly checkpoint
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.24.754109
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Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state.
Cell Reports · 22 Sept 2026 · Journal Article
Ciliopathy iPSC-derived RPE uniformly exhibit mesenchymal drift driven by TGF-β signaling, revealing a common pathogenic cell state across diverse genetic mutations.
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https://jclub.com.au/a/42667617
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Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective.
Frontiers in Genetics · 21 Sept 2026 · Review
Genetic and experimental evidence shows podocyte dysfunction across multiple pathways converges to cause glomerular proteinuria, emphasizing a multi-layer network of cellular homeostasis failure.
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Defective neuronal differentiation in Lowe syndrome is associated with mitochondrial dysfunction and impaired cilia-related Sonic Hedgehog signaling.
eLife · 18 Sept 2026 · Journal Article
OCRL deficiency in Lowe syndrome causes mitochondrial dysfunction, impaired cilia-related Sonic Hedgehog signaling, and disrupted neuronal differentiation across multiple models.
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https://jclub.com.au/a/42758533
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Transient activation of ciliary CCR2 signaling promotes the initiation of adipogenesis.
Nature Communications · 17 Sept 2026 · Journal Article
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https://jclub.com.au/a/42893979
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CiliaIO: Machine learning reveals spatial patterns of cilia beating dynamics in the zebrafish spinal cord
bioRxiv · 4 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2025.12.10.693099
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Astrocytic PI3Kα controls synaptic plasticity and cognitive function via serine metabolism.
Nature Communications · 4 Sept 2026 · Journal Article
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https://jclub.com.au/a/42834036
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CRISPR activation of endogenous PKD1 increases polycystin-1 levels and suppresses cellular features of ADPKD
bioRxiv · 2 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.23.727418
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Cilia beating of ependymal cells regulates adult neural stem cell quiescence via mechanical forces mediated by PKD1/2-TRPM3.
Neuron · 2 Sept 2026 · Journal Article
Cilia beating of ependymal cells maintains adult neural stem cell quiescence through PKD1/2-TRPM3-mediated mechanical forces, with brief inhibition activating stem cells in vivo.
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https://jclub.com.au/a/42134321
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Basal body docking failure triggers centriole clustering and elimination in mammalian spermatogenesis.
EMBO Reports · 1 Sept 2026 · Journal Article
Disruption of basal body docking causes centriole clustering and elimination, leading to male infertility in mammalian spermatogenesis, with 100% of affected cells showing these defects.
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https://jclub.com.au/a/42471456
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Amygdala astrocyte primary cilium mechanisms contribute to stress behaviours.
Nature · 1 Sept 2026 · Journal Article
Amygdala astrocyte primary cilia disruption during stress impairs behavior, but restoring cilia improves stress responses and molecular markers.
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https://jclub.com.au/a/42557328
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Generation of an induced pluripotent stem cell line, LGMi002-A, from a Bardet-Biedl Syndrome patient with a BBS5 homozygous pathogenic variant.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42364509
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Emerging evidence for a cooperative pathway of Hedgehog release.
Nature Reviews Molecular Cell Biology · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42162315
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GRAF1-dependent endocytotic processes and the Golgi apparatus contribute to previously unrecognized intermediate stages of early ciliogenesis.
Nature Communications · 29 Aug 2026 · Journal Article
GRAF1-dependent endocytotic processes and the Golgi apparatus jointly facilitate early stages of ciliogenesis, revealing new intermediate structures in cilia assembly.
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