Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

@article{Suzuki2000MutationsOP,
  title={Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia},
  author={Koji A. O. Suzuki and Diane Hu and T. Yaneth Bustos and Jo{\"e}l Zlotogora and Ant{\^o}nio Richieri-Costa and J A Helms and Richard A. Spritz},
  journal={Nature Genetics},
  year={2000},
  volume={25},
  pages={427-430}
}
Cleft lip, with or without cleft palate (CL/P), is one of the most common birth defects, occurring in 0.4 to 2.0 per 1,000 infants born alive. Approximately 70% of CL/P cases are non-syndromic (MIM 119530), but CL/P also occurs in many single-gene syndromes, each affecting a protein critical for orofacial development. Here we describe positional cloning of the gene responsible for an autosomal recessive CL/P-ectodermal dysplasia (ED) syndrome (CLPED1; previously ED4; ref. 2), which we identify… CONTINUE READING
104 Citations
40 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 104 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 40 references

Ponsin / SH 3 P 12 : an l - afadin - and vinculin - binding protein localized at cell - cell and cell - matrix adherens junctions

  • K. Mandai
  • J . Cell Biol .
  • 1999

an immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein

  • Takahashi, K. et al. NectinPRR
  • J. Cell Biol. 139, 517–549
  • 1999

an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions

  • Mandai, K. et al. PonsinSH3P12
  • J. Cell Biol. 144, 1001–1017
  • 1999

Similar Papers

Loading similar papers…