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Year | Number of Results |
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2008 | 1 |
2009 | 1 |
2011 | 1 |
2014 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 27077
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Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is essential as a diffusion barrier for ciliary membrane proteins.
Mol Biol Cell. 2020 Sep 15;31(20):2259-2268. doi: 10.1091/mbc.E20-03-0208. Epub 2020 Jul 29.
Mol Biol Cell. 2020.
PMID: 32726168
Free PMC article.
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.
Romani M, et al.
Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.
Orphanet J Rare Dis. 2014.
PMID: 24886560
Free PMC article.
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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.
Hopp K, et al.
Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14.
Hum Mol Genet. 2011.
PMID: 21493627
Free PMC article.
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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.
Bialas NJ, et al.
J Cell Sci. 2009 Mar 1;122(Pt 5):611-24. doi: 10.1242/jcs.028621. Epub 2009 Feb 10.
J Cell Sci. 2009.
PMID: 19208769
Free PMC article.
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Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.
Williams CL, Winkelbauer ME, Schafer JC, Michaud EJ, Yoder BK.
Williams CL, et al.
Mol Biol Cell. 2008 May;19(5):2154-68. doi: 10.1091/mbc.e07-10-1070. Epub 2008 Mar 12.
Mol Biol Cell. 2008.
PMID: 18337471
Free PMC article.
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