MKS1-Gene

Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

None (1984) The Meckel syndrome: clinicopathological findings in 67 patients.

Kyttälä M et al. (2006) MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

Auber B et al. (2007) A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome.

Weatherbee SD et al. (2009) A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.

Dawe HR et al. (2007) The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Bialas NJ et al. (2009) Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.

Tammachote R et al. (2009) Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.

Orphanet article

NCBI article

OMIM.ORG article