| scholarly article | Q13442814 |
| P50 | author | Diane C Slusarski | Q55127328 |
| Francesc R Garcia-Gonzalo | Q56264287 | ||
| Rachel H Giles | Q63372740 | ||
| Jeremy F Reiter | Q96200822 | ||
| Kevin C Corbit | Q114778446 | ||
| Allen D Seol | Q114778447 | ||
| Friedhelm Hildebrandt | Q28050923 | ||
| Edgar A. Otto | Q30348357 | ||
| P2093 | author name string | John F O'Toole | |
| Muhammad Ansar | |||
| Lisa M Baye | |||
| Peter K Jackson | |||
| Val C Sheffield | |||
| William S Lane | |||
| Heiko M Reutter | |||
| Abdul Noor | |||
| John B Vincent | |||
| J Fernando Bazan | |||
| Wendy Sandoval | |||
| Mandy Kwong | |||
| Suzie J Scales | |||
| Xiaohui Wen | |||
| Priya Kulkarni | |||
| Matthew J Brauer | |||
| Liyun Sang | |||
| Akella Radha Rama Devi | |||
| Julie J Miller | |||
| Muhammad Arshad Rafiq | |||
| Erik G Huntzicker | |||
| Daniel A Doherty | |||
| Mindan K Sfakianos | |||
| Susanne Held | |||
| P2860 | cites work | Induction of motor neurons by Sonic hedgehog is independent of floor plate differentiation | Q71725603 |
| Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells | Q73986028 | ||
| A systematic approach to mapping recessive disease genes in individuals from outbred populations | Q21145017 | ||
| Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome | Q21710711 | ||
| Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle | Q21710712 | ||
| Towards a proteome-scale map of the human protein–protein interaction network | Q21735930 | ||
| Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb | Q22253250 | ||
| Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Q24295284 | ||
| Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity | Q24297187 | ||
| Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia | Q24298711 | ||
| Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit | Q24305547 | ||
| A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution | Q24305835 | ||
| NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis | Q24306642 | ||
| The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin | Q24307506 | ||
| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome | Q24308692 | ||
| Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins | Q24310078 | ||
| Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis | Q24310102 | ||
| A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis | Q24311615 | ||
| Nephrocystin-3 is required for ciliary function in zebrafish embryos | Q24312027 | ||
| Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia | Q24315070 | ||
| Defining the human deubiquitinating enzyme interaction landscape | Q24315885 | ||
| A protein domain-based interactome network for C. elegans early embryogenesis | Q24322661 | ||
| INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse | Q24323384 | ||
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | Q24336477 | ||
| A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration | Q24337490 | ||
| Cep97 and CP110 suppress a cilia assembly program | Q24338361 | ||
| Cytoscape: a software environment for integrated models of biomolecular interaction networks | Q24515682 | ||
| Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria | Q24534179 | ||
| Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2 | Q24555759 | ||
| CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease | Q24568058 | ||
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Q24625476 | ||
| The role of primary cilia in neuronal function | Q24632925 | ||
| CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 | Q24644138 | ||
| MUSTER: Improving protein sequence profile-profile alignments by using multiple sources of structure information | Q24646301 | ||
| CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation | Q24650658 | ||
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies | Q24651557 | ||
| SMART 6: recent updates and new developments | Q24655795 | ||
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse | Q24671808 | ||
| The human disease network | Q24678240 | ||
| Small-molecule modulators of Hedgehog signaling: identification and characterization of Smoothened agonists and antagonists | Q24794838 | ||
| High-throughput generation of tagged stable cell lines for proteomic analysis | Q27331566 | ||
| The PSIPRED protein structure prediction server | Q27860953 | ||
| Vertebrate Smoothened functions at the primary cilium | Q27919682 | ||
| Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition. | Q27919686 | ||
| Identification of 23 complementation groups required for post-translational events in the yeast secretory pathway | Q27931724 | ||
| The exocyst protein Sec10 is necessary for primary ciliogenesis and cystogenesis in vitro | Q27967643 | ||
| Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). | Q28114957 | ||
| Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6 | Q28116478 | ||
| Genetic and physical interaction between the NPHP5 and NPHP6 gene products | Q28118065 | ||
| Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes | Q28119088 | ||
| Intraflagellar transport | Q28131775 | ||
| Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells | Q28140138 | ||
| Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination | Q28188363 | ||
| A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 | Q28250958 | ||
| Protein homology detection by HMM-HMM comparison | Q28292161 | ||
| Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy | Q28506100 | ||
| Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates | Q28506652 | ||
| A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling | Q28507443 | ||
| Homeobox gene Nkx2.2 and specification of neuronal identity by graded Sonic hedgehog signalling | Q28508806 | ||
| Pax6 controls progenitor cell identity and neuronal fate in response to graded Shh signaling | Q28571762 | ||
| Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia | Q28585433 | ||
| Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis | Q28586772 | ||
| Hedgehog signalling in the mouse requires intraflagellar transport proteins | Q28593010 | ||
| Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella | Q28593253 | ||
| Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms | Q29614613 | ||
| Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways | Q29614619 | ||
| CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. | Q29614822 | ||
| Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut. | Q31147995 | ||
| Kinome siRNA screen identifies regulators of ciliogenesis and hedgehog signal transduction | Q33373007 | ||
| Nephronophthisis: disease mechanisms of a ciliopathy | Q33594278 | ||
| Meckel syndrome | Q33680876 | ||
| The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome | Q33909988 | ||
| Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. | Q33920052 | ||
| MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome | Q34485076 | ||
| The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. | Q34485086 | ||
| The roles of cilia in developmental disorders and disease | Q34571559 | ||
| Nephronophthisis-associated ciliopathies | Q34629900 | ||
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome | Q34636894 | ||
| The C. elegans homologs of nephrocystin-1 and nephrocystin-4 are cilia transition zone proteins involved in chemosensory perception | Q34651267 | ||
| Opinion: Building epithelial architecture: insights from three-dimensional culture models | Q34718096 | ||
| Pattern formation in the vertebrate neural tube: a sonic hedgehog morphogen-regulated transcriptional network | Q34795340 | ||
| The renal cell primary cilium functions as a flow sensor | Q35200478 | ||
| Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease | Q36156370 | ||
| Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? | Q36337939 | ||
| The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle | Q36529285 | ||
| Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis | Q36631120 | ||
| Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy | Q37111349 | ||
| HNF-3 beta as a regulator of floor plate development | Q38312151 | ||
| Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas | Q46753643 | ||
| Joubert syndrome (and related disorders) (OMIM 213300). | Q48232417 | ||
| Local modeling of global interactome networks | Q48482764 | ||
| Origin and shaping of the laterality organ in zebrafish. | Q51952307 | ||
| P4510 | describes a project that uses | Cytoscape | Q3699942 |
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | ciliopathy | Q203031 |
| MKS complex | Q21110523 | ||
| Nephrocystin 1 | Q21113785 | ||
| Nephrocystin 4 | Q21118162 | ||
| RPGRIP1 like | Q21118164 | ||
| P304 | page(s) | 513-28 | |
| P577 | publication date | 2011-05-13 | |
| P1433 | published in | Cell | Q655814 |
| P1476 | title | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | |
| P478 | volume | 145 |
| Q28591854 | 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide |
| Q46720230 | 3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders |
| Q92617626 | A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling |
| Q35919552 | A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4. |
| Q28000085 | A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain |
| Q34625473 | A migrating ciliary gate compartmentalizes the site of axoneme assembly in Drosophila spermatids |
| Q24296671 | A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened |
| Q34260840 | A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells |
| Q29026303 | A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia |
| Q37937749 | A systems-biology approach to understanding the ciliopathy disorders |
| Q98718301 | A transient role of the ciliary gene Inpp5e in controlling direct versus indirect neurogenesis in cortical development |
| Q28000057 | A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition |
| Q37205532 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 |
| Q35180480 | ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning |
| Q28000117 | ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting |
| Q57023929 | ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition |
| Q26824716 | ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies |
| Q28591420 | Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome |
| Q27318730 | Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain |
| Q27319882 | Acute versus chronic loss of mammalian Azi1/Cep131 results in distinct ciliary phenotypes |
| Q24297497 | An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium |
| Q29147481 | An organelle-specific protein landscape identifies novel diseases and molecular mechanisms |
| Q36342477 | Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome |
| Q28578791 | Anks3 interacts with nephronophthisis proteins and is required for normal renal development |
| Q38763176 | Anticystogenic activity of a small molecule PAK4 inhibitor may be a novel treatment for autosomal dominant polycystic kidney disease |
| Q37994015 | Apicobasal polarity in the kidney |
| Q24337670 | Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites |
| Q92545417 | Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening |
| Q24317466 | BBS mutations modify phenotypic expression of CEP290-related ciliopathies |
| Q35195922 | Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks. |
| Q39137512 | Birt-Hogg-Dube syndrome is a novel ciliopathy |
| Q40147015 | C5orf42 is the major gene responsible for OFD syndrome type VI. |
| Q24339550 | CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base |
| Q27301023 | CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies |
| Q28000138 | CP110 and its network of partners coordinately regulate cilia assembly |
| Q27301019 | CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation |
| Q58791437 | Cardiovascular and inflammatory mechanisms in healthy humans exposed to air pollution in the vicinity of a steel mill |
| Q24339426 | Casein kinase 1δ functions at the centrosome and Golgi to promote ciliogenesis |
| Q34504028 | Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function |
| Q52323114 | Cell type-specific regulation of ciliary transition zone assembly in vertebrates. |
| Q37201496 | Cell- and subunit-specific mechanisms of CNG channel ciliary trafficking and localization in C. elegans |
| Q35694638 | Centrin depletion causes cyst formation and other ciliopathy-related phenotypes in zebrafish |
| Q33769568 | Centrioles initiate cilia assembly but are dispensable for maturation and maintenance in C. elegans. |
| Q28594586 | Centrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesis |
| Q50421643 | Centrosomal protein Dzip1l binds Cby, promotes ciliary bud formation, and acts redundantly with Bromi to regulate ciliogenesis in the mouse |
| Q30900495 | Changes in mangrove species assemblages and future prediction of the Bangladesh Sundarbans using Markov chain model and cellular automata. |
| Q40424373 | Characterizing the morbid genome of ciliopathies. |
| Q38171918 | Cilia and coordination of signaling networks during heart development |
| Q42630072 | Cilia develop long-lasting contacts, with other cilia |
| Q26829929 | Cilia functions in development |
| Q99710859 | Cilia interactome with predicted protein-protein interactions reveals connections to Alzheimer's disease, aging and other neuropsychiatric processes |
| Q36564463 | Cilia, Wnt signaling, and the cytoskeleton |
| Q51093238 | Ciliary Mechanisms of Cyst Formation in Polycystic Kidney Disease. |
| Q64061055 | Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish |
| Q34541792 | Ciliary membrane proteins traffic through the Golgi via a Rabep1/GGA1/Arl3-dependent mechanism |
| Q38596288 | Ciliary subcompartments and cysto-proteins |
| Q26999913 | Ciliary subcompartments: how are they established and what are their functions? |
| Q37047466 | Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases |
| Q36111257 | Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins |
| Q38994215 | Ciliopathies |
| Q34207085 | Ciliopathies: the trafficking connection |
| Q34698580 | Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron |
| Q42495096 | Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation |
| Q28509507 | Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis |
| Q37336144 | Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. |
| Q24309344 | Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis |
| Q27025518 | Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease |
| Q26859219 | Congenital heart disease: emerging themes linking genetics and development |
| Q27310130 | Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling |
| Q55417331 | Control of Hedgehog Signalling by the Cilia-Regulated Proteasome. |
| Q36780455 | Current insights into renal ciliopathies: what can genetics teach us? |
| Q36420786 | Cystic kidney diseases: many ways to form a cyst |
| Q24311957 | DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling |
| Q36106080 | DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome |
| Q24338649 | Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans |
| Q34246303 | Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. |
| Q37992627 | Developmental disorders of the midbrain and hindbrain |
| Q35709972 | Developmental disruptions underlying brain abnormalities in ciliopathies |
| Q38071553 | Diffusion tensor imaging and fiber tractography in brain malformations |
| Q30613030 | Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia |
| Q28511174 | Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity |
| Q33779611 | Diverse cell type-specific mechanisms localize G protein-coupled receptors to Caenorhabditis elegans sensory cilia |
| Q37381267 | Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults |
| Q42090959 | Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series |
| Q83225943 | Dzip1 and Fam92 form a ciliary transition zone complex with cell type specific roles in |
| Q39602532 | Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome |
| Q36166406 | Educational paper: ciliopathies |
| Q92861218 | Establishing and regulating the composition of cilia for signal transduction |
| Q90411005 | Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes |
| Q24294774 | Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling |
| Q38135492 | Expanding horizons: ciliary proteins reach beyond cilia |
| Q37502243 | Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish |
| Q36172263 | Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance |
| Q43241933 | Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies |
| Q33728229 | From the cytoplasm into the cilium: bon voyage |
| Q40963789 | Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis |
| Q35769930 | Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome |
| Q35893646 | Functional interactions between Fat family cadherins in tissue morphogenesis and planar polarity. |
| Q40472297 | GTP-binding of ARL-3 is activated by ARL-13 as a GEF and stabilized by UNC-119. |
| Q37123963 | Gated entry into the ciliary compartment |
| Q47868367 | Gene co-opening network deciphers gene functional relationships |
| Q39429623 | Genes and molecular pathways underpinning ciliopathies |
| Q39292822 | Genetic kidney diseases: Caenorhabditis elegans as model system |
| Q40805918 | Genomics in the renal clinic - translating nephrogenetics for clinical practice |
| Q27316952 | Global genetic analysis in mice unveils central role for cilia in congenital heart disease |
| Q38110992 | Hedgehog signaling from the primary cilium to the nucleus: an emerging picture of ciliary localization, trafficking and transduction |
| Q88456736 | How the Ciliary Membrane Is Organized Inside-Out to Communicate Outside-In |
| Q61805685 | Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation |
| Q37576577 | INPP5E regulates phosphoinositide-dependent cilia transition zone function. |
| Q36985099 | Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. |
| Q36277070 | Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy |
| Q27012842 | Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies |
| Q42509091 | Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling |
| Q38383321 | Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7. |
| Q27319191 | Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome |
| Q41362538 | In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. |
| Q36339758 | Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 |
| Q37370853 | Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity |
| Q48661877 | Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia |
| Q37257283 | Joubert syndrome: congenital cerebellar ataxia with the molar tooth |
| Q36475039 | Joubert syndrome: genotyping a Northern European patient cohort |
| Q35641955 | Joubert syndrome: report of 11 cases |
| Q35870349 | Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies |
| Q38820868 | Lentivirus-Mediated knockdown of tectonic family member 1 inhibits medulloblastoma cell proliferation |
| Q55408399 | Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. |
| Q90262455 | MKS-NPHP module proteins control ciliary shedding at the transition zone |
| Q37331333 | MKS1 regulates ciliary INPP5E levels in Joubert syndrome |
| Q27343217 | MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone |
| Q47833085 | Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. |
| Q47751690 | Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families |
| Q38169941 | Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development |
| Q92692779 | Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome |
| Q59789327 | Microtubule asters anchored by FSD1 control axoneme assembly and ciliogenesis |
| Q41543893 | Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa |
| Q35453921 | Modeling human disease in humans: the ciliopathies |
| Q28506685 | Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development |
| Q38034580 | Molecular assemblies that control rhodopsin transport to the cilia |
| Q26795762 | Molecular basis of cleft palates in mice |
| Q48475335 | Molecular characterization of Joubert syndrome in Saudi Arabia |
| Q26860718 | Molecular complexes that direct rhodopsin transport to primary cilia |
| Q40643638 | Molecular genetic analysis of 30 families with Joubert syndrome |
| Q38641254 | Mouse Models of Rare Craniofacial Disorders. |
| Q27692039 | Mouse models of ciliopathies: the state of the art. |
| Q33919616 | Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis |
| Q24301100 | Mutation of POC1B in a severe syndromic retinal ciliopathy |
| Q38669720 | Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. |
| Q34031174 | Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population |
| Q34393598 | Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy |
| Q24318443 | Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression |
| Q41883398 | NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies |
| Q90280361 | NPHP proteins are binding partners of nucleoporins at the base of the primary cilium |
| Q34433457 | NPHP4 controls ciliary trafficking of membrane proteins and large soluble proteins at the transition zone. |
| Q30571081 | NPHP4 variants are associated with pleiotropic heart malformations |
| Q28116651 | Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery |
| Q28081939 | Nephronophthisis and related syndromes |
| Q52653183 | Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome? |
| Q27313602 | Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition |
| Q38556258 | Nephronophthisis: should we target cysts or fibrosis? |
| Q35237613 | Neural tube defects: from a proteomic standpoint |
| Q38219045 | Next-generation sequencing for research and diagnostics in kidney disease |
| Q36105568 | Non-Overlapping Distributions and Functions of the VDAC Family in Ciliogenesis |
| Q38030482 | Non-syndromic retinal ciliopathies: translating gene discovery into therapy |
| Q41161853 | Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3. |
| Q24336897 | Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies |
| Q92371120 | Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy |
| Q90009794 | Novel roles of PRK1 and PRK2 in cilia and cancer biology |
| Q38591772 | Novel topography of the Rab11-effector interaction network within a ciliary membrane targeting complex |
| Q24614447 | Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment |
| Q100681363 | Nucleoporin NUP205 plays a critical role in cilia and congenital disease |
| Q40235769 | OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. |
| Q37618918 | Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition. |
| Q91724378 | Overexpression of lncRNA TCTN2 protects neurons from apoptosis by enhancing cell autophagy in spinal cord injury |
| Q41643474 | Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. |
| Q102210879 | PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia |
| Q27704536 | PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity |
| Q28114986 | Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis |
| Q38846061 | Permeability barriers for generating a unique ciliary protein and lipid composition |
| Q26778955 | Photoreceptor Sensory Cilium: Traversing the Ciliary Gate |
| Q39270051 | Photoreceptor outer segment as a sink for membrane proteins: hypothesis and implications in retinal ciliopathies |
| Q36585455 | Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins |
| Q30009199 | Preferred SH3 domain partners of ADAM metalloproteases include shared and ADAM-specific SH3 interactions |
| Q48020070 | Primary Cilia in Brain Development and Diseases |
| Q64067818 | Primary Cilia-An Underexplored Topic in Major Mental Illness |
| Q42516666 | Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells. |
| Q38116920 | Primary cilia and graded Sonic Hedgehog signaling |
| Q36685669 | Primary cilia in energy balance signaling and metabolic disorder |
| Q38168054 | Primary cilia in neurodevelopmental disorders |
| Q27002324 | Primary cilia in the developing and mature brain |
| Q24296378 | Primary ciliogenesis requires the distal appendage component Cep123. |
| Q35045403 | Profiling of Parkin-binding partners using tandem affinity purification |
| Q38665815 | Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone |
| Q41773522 | Proteomic analysis of isolated ciliary transition zones reveals the presence of ESCRT proteins |
| Q42801808 | Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease |
| Q35414881 | Quantitative immunofluorescence assay to measure the variation in protein levels at centrosomes |
| Q36008733 | RPGR: Its role in photoreceptor physiology, human disease, and future therapies. |
| Q59136535 | RPGRIP1L helps to establish the ciliary gate for entry of proteins |
| Q64233670 | RPGRIP1L is required for stabilizing epidermal keratinocyte adhesion through regulating desmoglein endocytosis |
| Q55116641 | Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects. |
| Q36681693 | Rationalising the role of Keratin 9 as a biomarker for Alzheimer's disease |
| Q47737330 | Recent advances in the molecular diagnosis of polycystic kidney disease |
| Q50297235 | Recruitment of transition zone proteins |
| Q42054127 | Regulated membrane protein entry into flagella is facilitated by cytoplasmic microtubules and does not require IFT. |
| Q38916274 | Regulation of centriolar satellite integrity and its physiology |
| Q34427583 | Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling |
| Q61811497 | Rescue of cone function in cone-only knockout mouse model with Leber congenital amaurosis phenotype |
| Q38074339 | Ripples in the pond--using a systems approach to decipher the cellular functions of membrane microdomains |
| Q93078954 | Role for intraflagellar transport in building a functional transition zone |
| Q39164306 | Role of Polarity Proteins in the Generation and Organization of Apical Surface Protrusions |
| Q47274594 | Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish |
| Q36029226 | SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling |
| Q51576891 | STED and STORM Superresolution Imaging of Primary Cilia. |
| Q36027360 | Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access. |
| Q38821382 | Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis |
| Q27025614 | Scrutinizing ciliopathies by unraveling ciliary interaction networks |
| Q64096712 | Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis |
| Q52726088 | Sending mixed signals: Cilia-dependent signaling during development and disease. |
| Q36417359 | Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis |
| Q38665385 | Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis |
| Q38866633 | Skp2-Mediated RagA Ubiquitination Elicits a Negative Feedback to Prevent Amino-Acid-Dependent mTORC1 Hyperactivation by Recruiting GATOR1. |
| Q26829936 | Smelling the roses and seeing the light: gene therapy for ciliopathies |
| Q91828623 | Spectrin-based membrane skeleton supports ciliogenesis |
| Q42485675 | Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice |
| Q88983112 | Super-Resolution Imaging Reveals TCTN2 Depletion-Induced IFT88 Lumen Leakage and Ciliary Weakening |
| Q46168591 | Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome |
| Q33888840 | Supernumerary centrosomes nucleate extra cilia and compromise primary cilium signaling |
| Q36056355 | Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone |
| Q29871526 | Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. |
| Q38261110 | Systemic diseases associated with retinal dystrophies |
| Q47314856 | TCTN2: a novel tumor marker with oncogenic properties |
| Q24295300 | TCTN3 mutations cause Mohr-Majewski syndrome |
| Q35394882 | TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. |
| Q24299114 | TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone |
| Q38463883 | TTBK2: a tau protein kinase beyond tau phosphorylation |
| Q37488595 | Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye. |
| Q55616467 | Targeted deletion of the AAA-ATPase Ruvbl1 in mice disrupts ciliary integrity and causes renal disease and hydrocephalus. |
| Q37223757 | Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy |
| Q92186510 | Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts |
| Q51576915 | Targeting of ASH Domain-Containing Proteins to the Centrosome. |
| Q30842355 | Tectonic gene mutations in patients with Joubert syndrome. |
| Q28000111 | The Arf GAP ASAP1 provides a platform to regulate Arf4- and Rab11-Rab8-mediated ciliary receptor targeting |
| Q47660256 | The Arf GEF GBF1 and Arf4 synergize with the sensory receptor cargo, rhodopsin, to regulate ciliary membrane trafficking. |
| Q28508183 | The Arf and Rab11 effector FIP3 acts synergistically with ASAP1 to direct Rabin8 in ciliary receptor targeting |
| Q42449688 | The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. |
| Q41412960 | The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base |
| Q33654636 | The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate |
| Q35814872 | The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking |
| Q38828900 | The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function |
| Q42468036 | The MST1/2-SAV1 complex of the Hippo pathway promotes ciliogenesis |
| Q30540974 | The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. |
| Q42477783 | The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway |
| Q30505167 | The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis |
| Q92339716 | The RNA-Protein Interactome of Differentiated Kidney Tubular Epithelial Cells |
| Q28592935 | The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content. |
| Q60934459 | The Roles of Primary Cilia in Cardiovascular Diseases |
| Q26859938 | The awesome power of dikaryons for studying flagella and basal bodies in Chlamydomonas reinhardtii |
| Q26825968 | The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization |
| Q24337792 | The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome |
| Q24338335 | The centrosomal kinase Plk1 localizes to the transition zone of primary cilia and induces phosphorylation of nephrocystin-1 |
| Q87557971 | The challenges and surprises of a definitive molecular genetic diagnosis |
| Q26746930 | The cilia-regulated proteasome and its role in the development of ciliopathies and cancer |
| Q28586620 | The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish |
| Q90740314 | The ciliary protein Rpgrip1l in development and disease |
| Q28116639 | The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signaling |
| Q35166357 | The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells |
| Q41306445 | The ciliary transition zone functions in cell adhesion but is dispensable for axoneme assembly in C. elegans |
| Q35902400 | The ciliary transition zone: from morphology and molecules to medicine |
| Q36433131 | The ciliopathies: a transitional model into systems biology of human genetic disease |
| Q45354108 | The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ. |
| Q35122197 | The ciliopathy gene Rpgrip1l is essential for hair follicle development |
| Q35225255 | The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking |
| Q37161998 | The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery |
| Q38870745 | The cilium: a cellular antenna with an influence on obesity risk |
| Q35930524 | The essential roles of transition fibers in the context of cilia |
| Q50297250 | The exocyst complex binds to RAB3IP in the ciliary targeting complex |
| Q38028167 | The extracellular matrix and ciliary signaling |
| Q30424945 | The future of ciliary and flagellar membrane research |
| Q91939504 | The genetics of isolated and syndromic clubfoot |
| Q43062596 | The long reach of noncoding RNAs |
| Q37689840 | The molecular basis of retinal dystrophies in pakistan. |
| Q37683931 | The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L. |
| Q34679993 | The nphp-2 and arl-13 genetic modules interact to regulate ciliogenesis and ciliary microtubule patterning in C. elegans |
| Q58775693 | The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development |
| Q39202478 | The phosphatase Dullard negatively regulates BMP signalling and is essential for nephron maintenance after birth |
| Q27310080 | The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells. |
| Q40839071 | The role of primary cilia in corpus callosum formation is mediated by production of the Gli3 repressor. |
| Q26822720 | The role of primary cilia in the development and disease of the retina |
| Q27026481 | The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies |
| Q24303418 | The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis |
| Q42966406 | The transition zone: an essential functional compartment of cilia |
| Q60227665 | The “transition zone” of the cilium-like regions in the Drosophila spermatocytes and the role of the C-tubule in axoneme assembly |
| Q47963137 | Three Tctn proteins are functionally conserved in the regulation of neural tube patterning and Gli3 processing but not ciliogenesis and Hedgehog signaling in the mouse |
| Q52744506 | Transition Zone Migration: A Mechanism for Cytoplasmic Ciliogenesis and Postaxonemal Centriole Elongation. |
| Q28000146 | Transition fibre protein FBF1 is required for the ciliary entry of assembled intraflagellar transport complexes |
| Q37285434 | Transition zone assembly and its contribution to axoneme formation in Drosophila male germ cells. |
| Q28000062 | Transition zone proteins and cilia dynamics |
| Q97517880 | Two novel TCTN2 mutations cause Meckel-Gruber syndrome |
| Q33732138 | USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis |
| Q30407427 | Uni-directional ciliary membrane protein trafficking by a cytoplasmic retrograde IFT motor and ciliary ectosome shedding |
| Q38546971 | Unmasking the ciliopathies: craniofacial defects and the primary cilium |
| Q34326587 | VDAC3 and Mps1 negatively regulate ciliogenesis |
| Q34296794 | VDAC3 regulates centriole assembly by targeting Mps1 to centrosomes |
| Q28085636 | YAP and TAZ: a nexus for Hippo signaling and beyond |
| Q50624161 | [Primary cilia control different steps of brain development]. |
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