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

Abstract:

Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia, central nervous system malformations (typically, posterior occipital encephalocele), and hepatic developmental defects. Two MKS genes, MKS1 and MKS3, have been identified recently. The present study describes the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes. In situ hybridization studies for MKS3...

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APA Style

Dawe, H. R., Smith, U. M., Cullinane, A. R., Gerrelli, D., Cox, P., Badano, J. L., Blair-Reid, S., Sriram, N., Katsanis, N., Attie-Bitach, T., Afford, S. C., Copp, A. J., Kelly, D. A., Gull, K., & Johnson, C. A. (2007). The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Molecular Genetics, 16(2), 173–186.

MLA Style

Dawe, H. R., et al. “The Meckel-Gruber Syndrome Proteins MKS1 and Meckelin Interact and Are Required for Primary Cilium Formation.” Human Molecular Genetics, vol. 16, no. 2, 2007, pp. 173–86.

Chicago Style

Dawe, HR, UM Smith, AR Cullinane, D Gerrelli, P Cox, JL Badano, S Blair-Reid, et al. 2007. “The Meckel-Gruber Syndrome Proteins MKS1 and Meckelin Interact and Are Required for Primary Cilium Formation.” Human Molecular Genetics 16 (2): 173–86.
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