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4. MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis. Williams CL; Li C; Kida K; Inglis PN; Mohan S; Semenec L; Bialas NJ; Stupay RM; Chen N; Blacque OE; Yoder BK; Leroux MR J Cell Biol; 2011 Mar; 192(6):1023-41. PubMed ID: 21422230 [TBL] [Abstract][Full Text] [Related]
5. Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans. Lange KI; Tsiropoulou S; Kucharska K; Blacque OE Dis Model Mech; 2021 Jan; 14(1):. PubMed ID: 33234550 [TBL] [Abstract][Full Text] [Related]
6. Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4. Williams CL; Masyukova SV; Yoder BK J Am Soc Nephrol; 2010 May; 21(5):782-93. PubMed ID: 20150540 [TBL] [Abstract][Full Text] [Related]
7. A Screen for Modifiers of Cilia Phenotypes Reveals Novel MKS Alleles and Uncovers a Specific Genetic Interaction between osm-3 and nphp-4. Masyukova SV; Landis DE; Henke SJ; Williams CL; Pieczynski JN; Roszczynialski KN; Covington JE; Malarkey EB; Yoder BK PLoS Genet; 2016 Feb; 12(2):e1005841. PubMed ID: 26863025 [TBL] [Abstract][Full Text] [Related]
8. Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins. Bialas NJ; Inglis PN; Li C; Robinson JF; Parker JD; Healey MP; Davis EE; Inglis CD; Toivonen T; Cottell DC; Blacque OE; Quarmby LM; Katsanis N; Leroux MR J Cell Sci; 2009 Mar; 122(Pt 5):611-24. PubMed ID: 19208769 [TBL] [Abstract][Full Text] [Related]
9. Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes. Bentley-Ford MR; LaBonty M; Thomas HR; Haycraft CJ; Scott M; LaFayette C; Croyle MJ; Andersen RS; Parant JM; Yoder BK Genetics; 2022 Jan; 220(1):. PubMed ID: 34850872 [TBL] [Abstract][Full Text] [Related]
10. The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies. Epting D; Decker E; Ott E; Eisenberger T; Bader I; Bachmann N; Bergmann C Hum Mol Genet; 2022 Jul; 31(14):2295-2306. PubMed ID: 35137054 [TBL] [Abstract][Full Text] [Related]
12. Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis. Williams CL; Winkelbauer ME; Schafer JC; Michaud EJ; Yoder BK Mol Biol Cell; 2008 May; 19(5):2154-68. PubMed ID: 18337471 [TBL] [Abstract][Full Text] [Related]
13. The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure. Jauregui AR; Nguyen KC; Hall DH; Barr MM J Cell Biol; 2008 Mar; 180(5):973-88. PubMed ID: 18316409 [TBL] [Abstract][Full Text] [Related]
14. Caenorhabditis elegans ciliary protein NPHP-8, the homologue of human RPGRIP1L, is required for ciliogenesis and chemosensation. Liu L; Zhang M; Xia Z; Xu P; Chen L; Xu T Biochem Biophys Res Commun; 2011 Jul; 410(3):626-31. PubMed ID: 21689635 [TBL] [Abstract][Full Text] [Related]
15. Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. Jauregui AR; Barr MM Exp Cell Res; 2005 May; 305(2):333-42. PubMed ID: 15817158 [TBL] [Abstract][Full Text] [Related]
16. 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. Jensen VL; Li C; Bowie RV; Clarke L; Mohan S; Blacque OE; Leroux MR EMBO J; 2015 Oct; 34(20):2537-56. PubMed ID: 26392567 [TBL] [Abstract][Full Text] [Related]
17. Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans. Lange KI; Best S; Tsiropoulou S; Berry I; Johnson CA; Blacque OE Hum Mol Genet; 2022 May; 31(10):1574-1587. PubMed ID: 34964473 [TBL] [Abstract][Full Text] [Related]
18. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. Li C; Jensen VL; Park K; Kennedy J; Garcia-Gonzalo FR; Romani M; De Mori R; Bruel AL; Gaillard D; Doray B; Lopez E; Rivière JB; Faivre L; Thauvin-Robinet C; Reiter JF; Blacque OE; Valente EM; Leroux MR PLoS Biol; 2016 Mar; 14(3):e1002416. PubMed ID: 26982032 [TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Otto EA; Ramaswami G; Janssen S; Chaki M; Allen SJ; Zhou W; Airik R; Hurd TW; Ghosh AK; Wolf MT; Hoppe B; Neuhaus TJ; Bockenhauer D; Milford DV; Soliman NA; Antignac C; Saunier S; Johnson CA; Hildebrandt F; J Med Genet; 2011 Feb; 48(2):105-16. PubMed ID: 21068128 [TBL] [Abstract][Full Text] [Related]
20. Intraflagellar Transport Complex A Genes Differentially Regulate Cilium Formation and Transition Zone Gating. Scheidel N; Blacque OE Curr Biol; 2018 Oct; 28(20):3279-3287.e2. PubMed ID: 30293716 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]