Gene Symbol: Mks1
Description: Meckel syndrome, type 1
Alias: AK190930, B8d3, avc6, Meckel syndrome type 1 protein homolog
Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola Sakki P, et al
. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006;38:155-7 pubmed
..Here we report the identification of a gene, MKS1, mutated in MKS families linked to 17q...
Dawe H, Smith U, Cullinane A, Gerrelli D, Cox P, Badano J, et al
. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007;16:173-86 pubmed
..Two MKS genes, MKS1 and MKS3, have been identified recently...
Weatherbee S, Niswander L, Anderson K. A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling. Hum Mol Genet. 2009;18:4565-75 pubmed publisher
..However, shRNA knockdown studies in cell culture have reported conflicting results on the role of Mks1 in ciliogenesis...
Kamp A, Peterson M, Svenson K, Bjork B, Hentges K, Rajapaksha T, et al
. Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet. 2010;19:3105-13 pubmed publisher
..Our screen demonstrated that 'sporadic' CHD may have major genetic component and established a practical, efficient approach for identifying CHD candidate genes. ..
Cui C, Chatterjee B, Francis D, Yu Q, SanAgustin J, Francis R, et al
. Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome. Dis Model Mech. 2011;4:43-56 pubmed publisher
..We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1(del64-323)) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein ..
Wheway G, Abdelhamed Z, Natarajan S, Toomes C, Inglehearn C, Johnson C. Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome. Dev Biol. 2013;377:55-66 pubmed publisher
..Mutations in the basal body protein MKS1 account for 7% of cases of MKS...
Goetz S, Bangs F, Barrington C, Katsanis N, Anderson K. The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. PLoS ONE. 2017;12:e0173399 pubmed publisher
..might function together, we have analyzed double mutants of an allele of the Meckel syndrome (MKS) complex protein MKS1 and the BBSome protein BBS4...
Sang L, Miller J, Corbit K, Giles R, Brauer M, Otto E, et al
. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011;145:513-28 pubmed publisher
..Our study further illustrates the power of linking proteomic networks and human genetics to uncover critical disease pathways. ..
Dowdle W, Robinson J, Kneist A, Sirerol Piquer M, Frints S, Corbit K, et al
. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet. 2011;89:94-110 pubmed publisher
Nearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2...