588 related articles for article (PubMed ID: 21045211)
1. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.
Cui C; Chatterjee B; Francis D; Yu Q; SanAgustin JT; Francis R; Tansey T; Henry C; Wang B; Lemley B; Pazour GJ; Lo CW
Dis Model Mech; 2011 Jan; 4(1):43-56. PubMed ID: 21045211
[TBL] [Abstract][Full Text] [Related]
2. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
Abdelhamed ZA; Wheway G; Szymanska K; Natarajan S; Toomes C; Inglehearn C; Johnson CA
Hum Mol Genet; 2013 Apr; 22(7):1358-72. PubMed ID: 23283079
[TBL] [Abstract][Full Text] [Related]
3. Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Dowdle WE; Robinson JF; Kneist A; Sirerol-Piquer MS; Frints SG; Corbit KC; Zaghloul NA; van Lijnschoten G; Mulders L; Verver DE; Zerres K; Reed RR; Attié-Bitach T; Johnson CA; García-Verdugo JM; Katsanis N; Bergmann C; Reiter JF
Am J Hum Genet; 2011 Jul; 89(1):94-110. PubMed ID: 21763481
[TBL] [Abstract][Full Text] [Related]
4. Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.
Wheway G; Abdelhamed Z; Natarajan S; Toomes C; Inglehearn C; Johnson CA
Dev Biol; 2013 May; 377(1):55-66. PubMed ID: 23454480
[TBL] [Abstract][Full Text] [Related]
5. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.
Goetz SC; Bangs F; Barrington CL; Katsanis N; Anderson KV
PLoS One; 2017; 12(3):e0173399. PubMed ID: 28291807
[TBL] [Abstract][Full Text] [Related]
6. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.
Weatherbee SD; Niswander LA; Anderson KV
Hum Mol Genet; 2009 Dec; 18(23):4565-75. PubMed ID: 19776033
[TBL] [Abstract][Full Text] [Related]
7. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.
Abdelhamed ZA; Natarajan S; Wheway G; Inglehearn CF; Toomes C; Johnson CA; Jagger DJ
Dis Model Mech; 2015 Jun; 8(6):527-41. PubMed ID: 26035863
[TBL] [Abstract][Full Text] [Related]
8. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K; Heyer CM; Hommerding CJ; Henke SA; Sundsbak JL; Patel S; Patel P; Consugar MB; Czarnecki PG; Gliem TJ; Torres VE; Rossetti S; Harris PC
Hum Mol Genet; 2011 Jul; 20(13):2524-34. PubMed ID: 21493627
[TBL] [Abstract][Full Text] [Related]
9. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG; Isabella CR; Kroes HY; Dempsey JC; Gremmels H; Monroe GR; Phelps IG; Duran KJ; Adkins J; Kumar SA; Knutzen DM; Knoers NV; Mendelsohn NJ; Neubauer D; Mastroyianni SD; Vogt J; Worgan L; Karp N; Bowdin S; Glass IA; Parisi MA; Otto EA; Johnson CA; Hildebrandt F; van Haaften G; Giles RH; Doherty D
J Med Genet; 2016 Jan; 53(1):62-72. PubMed ID: 26490104
[TBL] [Abstract][Full Text] [Related]
10. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
Bachmann-Gagescu R; Dona M; Hetterschijt L; Tonnaer E; Peters T; de Vrieze E; Mans DA; van Beersum SE; Phelps IG; Arts HH; Keunen JE; Ueffing M; Roepman R; Boldt K; Doherty D; Moens CB; Neuhauss SC; Kremer H; van Wijk E
PLoS Genet; 2015 Oct; 11(10):e1005575. PubMed ID: 26485645
[TBL] [Abstract][Full Text] [Related]
11. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.
Aguilar A; Meunier A; Strehl L; Martinovic J; Bonniere M; Attie-Bitach T; Encha-Razavi F; Spassky N
Proc Natl Acad Sci U S A; 2012 Oct; 109(42):16951-6. PubMed ID: 23027964
[TBL] [Abstract][Full Text] [Related]
12. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
Dawe HR; Smith UM; Cullinane AR; Gerrelli D; Cox P; Badano JL; Blair-Reid S; Sriram N; Katsanis N; Attie-Bitach T; Afford SC; Copp AJ; Kelly DA; Gull K; Johnson CA
Hum Mol Genet; 2007 Jan; 16(2):173-86. PubMed ID: 17185389
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.
Christopher KJ; Wang B; Kong Y; Weatherbee SD
Dev Biol; 2012 Aug; 368(2):382-92. PubMed ID: 22698544
[TBL] [Abstract][Full Text] [Related]
15. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
Tammachote R; Hommerding CJ; Sinders RM; Miller CA; Czarnecki PG; Leightner AC; Salisbury JL; Ward CJ; Torres VE; Gattone VH; Harris PC
Hum Mol Genet; 2009 Sep; 18(17):3311-23. PubMed ID: 19515853
[TBL] [Abstract][Full Text] [Related]
16. The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
Leightner AC; Hommerding CJ; Peng Y; Salisbury JL; Gainullin VG; Czarnecki PG; Sussman CR; Harris PC
Hum Mol Genet; 2013 May; 22(10):2024-40. PubMed ID: 23393159
[TBL] [Abstract][Full Text] [Related]
17. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Garcia-Gonzalo FR; Corbit KC; Sirerol-Piquer MS; Ramaswami G; Otto EA; Noriega TR; Seol AD; Robinson JF; Bennett CL; Josifova DJ; García-Verdugo JM; Katsanis N; Hildebrandt F; Reiter JF
Nat Genet; 2011 Jul; 43(8):776-84. PubMed ID: 21725307
[TBL] [Abstract][Full Text] [Related]
18. Ciliogenesis and left-right axis defects in forkhead factor HFH-4-null mice.
Brody SL; Yan XH; Wuerffel MK; Song SK; Shapiro SD
Am J Respir Cell Mol Biol; 2000 Jul; 23(1):45-51. PubMed ID: 10873152
[TBL] [Abstract][Full Text] [Related]
19. 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.
Wang C; Li J; Meng Q; Wang B
Dev Biol; 2017 Oct; 430(1):156-165. PubMed ID: 28800946
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.
Logan CV; Abdel-Hamed Z; Johnson CA
Mol Neurobiol; 2011 Feb; 43(1):12-26. PubMed ID: 21110233
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
