Genetic and Kidney Cyst Diseases

Localized mRNA translation mediates maturation of cytoplasmic cilia in Drosophila spermatogenesis

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

Acute knockdown of extracellular matrix protein Tinagl1 disrupts heart laterality and pronephric cilia in zebrafish embryonic development

This study shows that knocking down Tinagl1 in zebrafish embryos causes heart laterality defects, ciliary abnormalities, and spinal cord issues, linking it to ciliopathy and signaling pathways.

Wampa is a dynein subunit required for axonemal assembly and male fertility in Drosophila

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.

Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia

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.

BBSome regulation of LITE-1 receptor in a cilium-independent manner in C. elegans

The paper identifies a cilium-independent function of BBSome in regulating the stability of the non-ciliary LITE-1 receptor in C. elegans ASH neurons.

A changing signaling environment induces multiciliated cell trans-differentiation during developmental remodeling

The paper shows that multiciliated cells can trans-differentiate into secretory cells during developmental remodeling in Xenopus, induced by changes in signaling pathways.

Genetic interaction of mammalian IFT-A paralogs regulates cilia disassembly, ciliary protein trafficking, Hedgehog signaling and embryogenesis

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.

Ankhd1 enhances polycystic kidney disease development via promoting proliferation and fibrosis.

This study identifies ANKHD1 as a driver of ADPKD by promoting proliferation and fibrosis, showing its inhibition could be therapeutically beneficial.

Arl13b regulates Sonic Hedgehog signaling from outside primary cilia

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.

Sensory neurons contacting the cerebrospinal fluid require the Reissner fiber to detect spinal curvature in vivo

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

Embryonic and foetal expression patterns of the ciliopathy gene CEP164

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.

Simulations of particle tracking in the oligociliated mouse node and implications for left-right symmetry breaking mechanics

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.

Loss of the Reissner Fiber and increased URP neuropeptide signaling underliescoliosis in a zebrafish ciliopathy mutant

Structure of the human BBSome core complex in the open conformation

The paper presents a high-resolution cryo-EM structure of a human BBSome core subcomplex, revealing its open conformation and interactions with cargo and membrane components.

ARMC9 and TOGARAM1 define a Joubert syndrome-associated protein module that regulates axonemal post-translational modifications and cilium stability

This study identifies a JBTS-associated protein module involving ARMC9 and TOGARAM1 that regulates ciliary stability and post-translational modifications.

Length regulation of multiple flagella that self-assemble from a shared pool of components

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.

The Role of the Wnt/PCP Formin Daam1 in Renal Ciliogenesis

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.

Chemokine signaling links cell cycle progression and cilia formation for left-right symmetry breaking

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

STK11 is required for the normal program of ciliated cell differentiation in airways

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

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

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.

Mutations In PIK3C2A Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

Mcidas mutant mice reveal a two-step process for the specification and differentiation of multiciliated cells in mammals

The paper shows that GMNC and MCIDAS function in two steps for multiciliated cell development: GMNC specifies precursors and MCIDAS drives basal body production for multiciliation.

Genomic knockout of alms1 in zebrafish recapitulates Alstrom syndrome and provides insight into metabolic phenotypes

This paper generates a zebrafish model of Alstrom syndrome by knocking out alms1, revealing metabolic defects and beta-cell dysfunction linked to obesity and diabetes.

Anti-microRNA screen uncovers miR-17 family within miR-17~92 cluster as the primary driver of kidney cyst growth

The paper identifies miR-17 family as the primary driver of kidney cyst growth in ADPKD by showing anti-miR-17 treatment reduces cyst proliferation and alters key metabolic and inflammatory pathways.

The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning Via Region-Specific Modulation Of Hedgehog/Gli Signaling.

This study investigates the role of the ciliopathy gene Ftm/Rpgrip1l in mouse forebrain development, revealing its region-specific modulation of Hedgehog/Gli signaling in the diencephalon, hypothalamus, and eyes.

GEMC1 and CCNO are required for efferent duct development and male fertility

The paper shows that GEMC1 and CCNO are essential for efferent duct development and male fertility in mice, with defects in multiciliated cell formation leading to infertility.

Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development

The paper identifies a homozygous KIF6 mutation in a child with neurocranial defects and intellectual disability, showing its role in ependymal cell cilia maintenance and neuro-cranial development through mouse and zebrafish models.

Chiral cilia orientation in the left-right organizer

The paper investigates cilia orientation asymmetry in the zebrafish left-right organizer and finds it is independent of left-right signaling and flow, instead relying on planar cell polarity.

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

The paper identifies biallelic LRRC56 mutations causing ciliary dysfunction and laterality defects in two families, linking LRRC56 to intraflagellar transport and dynein arm assembly.

INPP5E controls ciliary localization of phospholipids and odor response kinetics in a mouse model of Joubert syndrome

This paper shows that INPP5E regulates phospholipid distribution in cilia of mouse olfactory neurons, affecting odor response adaptation but not sensitivity.