Citations for
1AHI1, B9D1, IQCB1, KIF17, NPHP4, NUP62, SSTR3
Protein Interaction Analysis Provides a Map of the Spatial and Temporal Organization of the Ciliary Gating Zone.
Takao D, Wang L, Boss A, Verhey KJ.
Curr Biol 27(15):2296-2306.e3. doi: 10.1016/j.cub.2017.06.044. Epub 2017 Jul 20. 2017
2B9D1, MKS1, TMEM231
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF.
J Cell Biol 209(1):129-42. doi: 10.1083/jcb.201411087. 2015
3B9D1, JBTS27, JBTS28, MKS1
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
Orphanet J Rare Dis 9:72. doi: 10.1186/1750-1172-9-72. 2014
4B9D1, B9D2, CC2D2A, MKS1, NPHP1, NPHP4, RPGRIP1L, TMEM67
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 192(6):1023-41. 2011
5B9D1, B9D2, MKS10, MKS9
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 89(1):94-110. 2011
6B9D1, MKS9
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 20(13):2524-34. Epub 2011 Apr 14. 2011
7B9D1, TMEM231
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.
Chih B, Liu P, Chinn Y, Chalouni C, Komuves LG, Hass PE, Sandoval W, Peterson AS.
Nat Cell Biol 14(1):61-72. doi: 10.1038/ncb2410. 2011
8B9D1, B9D2, MKS1
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 122(Pt 5):611-24. Epub 2009 Feb 10.PMID: 19208769 2009
9B9D1, B9D2, MKS1
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 19(5):2154-68. Epub 2008 Mar 12. 2008
10B9D1, C4orf34, FAM63A, HEATR1, METTL11A, MFSD14B, MIF4GD, POLD2, RHOXF2
A protein interaction framework for human mRNA degradation.
Lehner B, Sanderson CM.
Genome Res 14(7):1315-23. 2004