Why is "Ciliopathy" trending?

Search Interest Perspective

• Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes - Nature
• Study Identifies Gene Linked to Rare Ciliopathy Disorders - Northwestern University
• Broadening horizons: new links between cilia and heart development and disease - Frontiers
• Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis - Nature
• Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules - Science | AAAS
• A ciliopathy complex builds distal appendages to initiate ciliogenesis - Rockefeller University Press
• NIH researchers develop gene therapy for rare ciliopathy - National Institutes of Health (NIH) | (.gov)
• A child with congenital short gut associated with DYNC2LI1 ciliopathy - Ovid
• Multicellular modeling of ciliopathy by combining iPS cells and microfluidic airway-on-a-chip technology - Science | AAAS
• Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers - Nature
• Tulp3 deficiency results in ciliopathy phenotypes during zebrafish embryogenesis - Nature
• The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture - Nature
• Modelling ciliopathy phenotypes in human tissues derived from pluripotent stem cells with genetically ablated cilia - Nature
• INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex - Nature
• Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation - Nature
• Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration - Nature
• Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA - Nature
• A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance - Nature
• Expanding the clinical and molecular spectrum of TBC1D32 -related ciliopathy: case reports and literature Review - Nature
• TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome - Nature
• Ciliopathy protein HYLS1 coordinates the biogenesis and signaling of primary cilia by activating the ciliary lipid kinase PIPKIγ - Science | AAAS
• The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery - Nature
• Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis - Nature
• The ciliopathy protein TALPID3/KIAA0586 acts upstream of Rab8 activation in zebrafish photoreceptor outer segment formation and maintenance - Nature
• A mutation in VPS15 PIK3R4) causes a ciliopathy and affects IFT20 release from the cis -Golgi - Nature
• An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes - Nature
• Cilium transition zone proteome reveals compartmentalization and differential dynamics of ciliopathy complexes - PNAS
• Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis - Nature
• A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy - Nature
• Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus - Science | AAAS
• The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling - jneurosci.org
• A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain - Nature
• Cilia-free stem cells offer new path to study rare diseases - UW Medicine | Newsroom
• Sudden acquired retinal degeneration syndrome may be an acquired primary ciliopathy, phenotypically similar to human Alström and Bardet-Biedl syndromes - Frontiers
• Organoids Derived from Cilia-Free Stem Cells Model Ciliopathy Phenotypes - genengnews.com
• Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition - Nature
• Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy - Nature
• Non-classical functions of nuclear pore proteins in ciliopathy - Frontiers
• Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model - Nature
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum - Nature
• The relevance of primary cilia in neurological disorders - The Lancet
• The nonmotile ciliopathies - Nature
• Diagnosis of TBC1D32‐associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy - Wiley Online Library
• Ciliopathies - nejm.org
• Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis | European Journal of Human Genetics - Nature
• Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies | Communications Medicine - Nature
• Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122 - Wiley Online Library
• A novel TTC26 variant in a patient with hexadactyly, pituitary stalk interruption, hepatopathy, nephropathy, and bilateral lip‐palate cleft: A case report and expansion of the phenotype - Wiley Online Library
• New liver and kidney disease identified - Medical Xpress
• A differential requirement for ciliary transition zone proteins in human and mouse neural progenitor fate specification - Nature
• Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome | European Journal of Human Genetics - Nature
• Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome - Frontiers
• Loss of Sprouty Produces a Ciliopathic Skeletal Phenotype in Mice Through Upregulation of Hedgehog Signaling - Wiley Online Library
• Primary cilia restrict autoinflammation by mediating PD-L1 expression - EurekAlert!
• Primary Cilia Are Critical Regulators of White Adipose Tissue Expansion - Frontiers
• Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis - Nature
• Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa | European Journal of Human Genetics - Nature
• Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project - Frontiers
• Signaling through the Primary Cilium - Frontiers
• New functions of B9D2 in tight junctions and epithelial polarity - Nature
• neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model - Nature
• Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy - Nature
• Cilia in the choroid plexus: their roles in hydrocephalus and beyond - Frontiers
• Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene - Nature
• Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts - Nature
• Ciliopathies: Coloring outside of the lines - Strong - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
• C. elegans PPEF-type phosphatase (Retinal degeneration C ortholog) functions in diverse classes of cilia to regulate nematode behaviors | Scientific Reports - Nature
• Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies - Nature
• Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy - Nature
• On the Wrong Track: Alterations of Ciliary Transport in Inherited Retinal Dystrophies - Frontiers
• Developmental disruptions underlying brain abnormalities in ciliopathies - Nature
• Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects - Nature
• Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies - Nature
• Primary Cilia in the Skin: Functions in Immunity and Therapeutic Potential - Frontiers
• New Liver & Kidney Disease Identified - Clinical Lab Products
• Primary cilia and actin regulatory pathways in renal ciliopathies - Frontiers
• The many faces of KIF7 - Human Genome Variation - Nature
• Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity - Nature
• Scientists discover why a rare syndrome is giving people diseases linked to another group of genetic disorders - Asia Research News |
• Hypothalamic primary cilium: A hub for metabolic homeostasis - Nature
• Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents - Nature
• The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans - Nature
• A Revolutionary Discovery Could Help People With Unexplained Liver and Kidney Issues - SciTechDaily
• Ciliopathies: Tiny filament projections from cells send out false signals - EurekAlert!
• Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function - Nature
• Clinical and experimental evidence suggest a link between KIF7 and C5orf42 -related ciliopathies through Sonic Hedgehog signaling - Nature
• Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome - Nature
• Welcome - JCI.org
• PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia - Nature
• Ciliopathies: Tiny filament projections from cells send out false signals - Phys.org
• The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis - Frontiers
• Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review. - Physician's Weekly
• Identification of Elongated Primary Cilia with Impaired Mechanotransduction in Idiopathic Scoliosis Patients - Nature
• Primary cilia suppress Ripk3-mediated necroptosis - Nature
• Atypical phenotype of a patient with Bardet–Biedl syndrome type 4 - Wiley Online Library
• CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium - Nature
• Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications - Wiley & Sons
• Investigating genetic kidney failure in young people - UMC Utrecht
• Cilia interactome with predicted protein–protein interactions reveals connections to Alzheimer’s disease, aging and other neuropsychiatric processes | Scientific Reports - Nature
• Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility - Nature