scholarly article | Q13442814 |
P2093 | author name string | David R. Beier | |
Danielle K. Manning | |||
Hisashi Koga | |||
Takahiko Yokoyama | |||
Dai Shiba | |||
P2860 | cites work | Cloning of inv, a gene that controls left/right asymmetry and kidney development. | Q48021550 |
Localization of Inv in a distinctive intraciliary compartment requires the C-terminal ninein-homolog-containing region. | Q51945543 | ||
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis | Q57955396 | ||
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin | Q24295284 | ||
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia | Q24298711 | ||
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 | ||
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome | Q24308784 | ||
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 | ||
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia | Q24315070 | ||
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes | Q28119088 | ||
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 | ||
Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse | Q28504917 | ||
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells | Q28505110 | ||
Nek8 regulates the expression and localization of polycystin-1 and polycystin-2 | Q28513278 | ||
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis | Q28586772 | ||
NIMA-related kinases defective in murine models of polycystic kidney diseases localize to primary cilia and centrosomes | Q28591960 | ||
Co-assembly of polycystin-1 and -2 produces unique cation-permeable currents | Q29615755 | ||
Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles | Q29617068 | ||
Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors. | Q30759195 | ||
Sentan: a novel specific component of the apical structure of vertebrate motile cilia | Q33373263 | ||
Reversal of left-right asymmetry: a situs inversus mutation. | Q34061906 | ||
Nephronophthisis-associated ciliopathies | Q34629900 | ||
The ciliary necklace. A ciliary membrane specialization | Q41154445 | ||
Primary cilia in normal and pathological tissues | Q41160293 | ||
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish | Q47073857 | ||
P433 | issue | 2 | |
P921 | main subject | Nephronophthisis 4 (juvenile) homolog (human) | Q21981584 |
Nephronophthisis 1 (juvenile) homolog (human) | Q21984747 | ||
Inversin | Q21986002 | ||
NIMA (never in mitosis gene a)-related expressed kinase 8 | Q21987110 | ||
Nephronophthisis 3 (adolescent) | Q21988814 | ||
P304 | page(s) | 112–119 | |
P577 | publication date | 2010-02-01 | |
P1433 | published in | Cytoskeleton | Q2196987 |
P1476 | title | Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia | |
P478 | volume | 67 |
Q31085376 | A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8 |
Q37205532 | ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 |
Q27318730 | Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain |
Q24297497 | An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium |
Q22001107 | An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue. |
Q35090086 | Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans |
Q38171918 | Cilia and coordination of signaling networks during heart development |
Q38217658 | Cilia and polycystic kidney disease, kith and kin. |
Q35126782 | Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment |
Q26999913 | Ciliary subcompartments: how are they established and what are their functions? |
Q36111257 | Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins |
Q34698580 | Ciliopathy proteins establish a bipartite signaling compartment in a C. elegans thermosensory neuron |
Q27025518 | Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease |
Q46466764 | Conserved Ankyrin Repeat Proteins and Their NIMA Kinase Partners Regulate Extracellular Matrix Remodeling and Intracellular Trafficking in Caenorhabditis elegans |
Q89759184 | Control of clathrin-mediated endocytosis by NIMA family kinases |
Q36420786 | Cystic kidney diseases: many ways to form a cyst |
Q33728229 | From the cytoplasm into the cilium: bon voyage |
Q40472297 | GTP-binding of ARL-3 is activated by ARL-13 as a GEF and stabilized by UNC-119. |
Q37289871 | High-resolution genetic localization of a modifying locus affecting disease severity in the juvenile cystic kidneys (jck) mouse model of polycystic kidney disease |
Q42516314 | Loss of inversin decreases transepithelial sodium transport in murine renal cells |
Q36509302 | Loss of the ciliary kinase Nek8 causes left-right asymmetry defects |
Q28000044 | MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis |
Q24302034 | Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways |
Q24634201 | Mechanisms of Nephronophthisis and Related Ciliopathies |
Q38169941 | Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development |
Q35107829 | Multiple renal cyst development but not situs abnormalities in transgenic RNAi mice against Inv::GFP rescue gene |
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 |
Q84587590 | Nephronophthisis |
Q41161853 | Novel Biochemical and Structural Insights into the Interaction of Myristoylated Cargo with Unc119 Protein and Their Release by Arl2/3. |
Q35954123 | Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation |
Q37618918 | Open Sesame: How Transition Fibers and the Transition Zone Control Ciliary Composition. |
Q36417359 | Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis |
Q36056355 | Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone |
Q30540974 | The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. |
Q30505167 | The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis |
Q26825968 | The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization |
Q51890954 | The canonical Wnt signaling pathway is not involved in renal cyst development in the kidneys of inv mutant mice. |
Q35902400 | The ciliary transition zone: from morphology and molecules to medicine |
Q39183588 | The minimal kinome of Giardia lamblia illuminates early kinase evolution and unique parasite biology. |
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 |
Q42966406 | The transition zone: an essential functional compartment of cilia |
Q64072191 | Thymosin β-4 is a novel regulator for primary cilium formation by nephronophthisis 3 in HeLa human cervical cancer cells |
Q26999700 | Wnt and planar cell polarity signaling in cystic renal disease |
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