Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia (original) (raw)
Schutte, B.C. & Murray, J.C. The many faces and factors of orofacial clefts. Hum. Mol. Genet.8, 1853–1859 (1999). ArticleCAS Google Scholar
Suzuki, K., Bustos, T. & Spritz, R.A. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am. J. Hum. Genet.63,1102–1107 (1998). ArticleCAS Google Scholar
Takahashi, K. et al. Nectin/PRR: an immunoglobulin-like cell adhesion molecule recruited to cadherin-based adherens junctions through interaction with Afadin, a PDZ domain-containing protein. J. Cell Biol.139, 517–549 (1999). Google Scholar
Mandai, K. et al. Afadin: a novel actin filament-binding protein with one PDZ domain localized at cadherin-based cell-to-cell adherens junction. J. Cell Biol.139, 517–528 (1997). ArticleCAS Google Scholar
Mandai, K. et al. Ponsin/SH3P12: an l-afadin- and vinculin-binding protein localized at cell-cell and cell-matrix adherens junctions. J. Cell Biol.144, 1001–1017 (1999). ArticleCAS Google Scholar
Asakura, T. et al. Similar and differential behaviour between the nectin-afadin-ponsin and cadherin-catenin systems during the formation and disruption of the polarized junctional alignment in epithelial cells. Genes Cells4, 573–581 (1999). ArticleCAS Google Scholar
Geraghty, R.J., Krummenacher, C., Cohen, G.H., Eisenberg, R.J. & Spear, P.G. Entry of alphaherpesviruses mediated by poliovirus receptor-related protein 1 and poliovirus receptor. Science280,1618–1620 (1998). ArticleCAS Google Scholar
Zlotogora, J., Zilberman, Y., Tenenbaum, A. & Wexler, M.R. Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes and mental retardation. A new syndrome? J. Med. Genet.24, 291–293 (1987). ArticleCAS Google Scholar
Ogur, G. & Yüksel, M. Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey. J. Med. Genet.25, 37–40 (1988). ArticleCAS Google Scholar
Zlotogora, J. & Ogur, G. Syndactyly, ectodermal dysplasia, and cleft lip and palate. J. Med. Genet.25, 503 (1988). ArticleCAS Google Scholar
Rodini, E.S.O. & Richieri-Costa, A. Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. Am. J. Med. Genet.36, 473–476 (1990). ArticleCAS Google Scholar
Zlotogora, J. Syndactyly, ectodermal dysplasia, and cleft lip/palate. J. Med. Genet.31, 957–959 (1994). ArticleCAS Google Scholar
Bustos, T. et al. Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome. Am. J. Med. Genet.41, 398–404 (1991). ArticleCAS Google Scholar
Buckler, A.J. et al. Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc. Natl Acad. Sci. USA88, 4005–4009 (1991). ArticleCAS Google Scholar
Altschul, S.F. et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res.25, 3389–3402 (1997). ArticleCAS Google Scholar
Leonhardt, E.A., Kapp, L.N., Young, B.R. & Murnane, J.P. Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia group D (ATDC). Genomics19, 130–136 (1994). ArticleCAS Google Scholar
Lee, S.-T., Park, S.-K., Lee, K.-H., Holmes, S.A. & Spritz, R.A. A non-radioactive method for simultaneous detection of single-strand conformation polymorphisms (SSCPs) and heteroduplexes. Molecules Cells5, 668–672 (1995). CAS Google Scholar
Lopez, M. et al. Complementary DNA characterization and chromosomal localization of a human gene related to the poliovirus receptor-encoding gene. Gene155, 261–265 (1995). ArticleCAS Google Scholar
Cocchi, F. et al. The V domain of herpesvirus Ig-like receptor (HIgR) contains a major functional region in herpes simplex virus-1 entry into cells and interacts physically with the viral glycoprotein D. Proc. Natl Acad. Sci. USA95, 15700–15705 (1998). ArticleCAS Google Scholar
Celli, J. et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell99, 143–153 (1999). ArticleCAS Google Scholar
van den Boogaard, M.-J.H., Dorland, M., Beemer, F.A. & van Amstel, H.K.P. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nature Genet.24, 342–343 (2000). ArticleCAS Google Scholar
Mendelsohn, C.L., Wimmer, E. & Racaniello, V.R. Cellular receptor for poliovirus: molecular cloning, nucleotide sequence, and expression of a new member of the immunoglobulin superfamily. Cell56, 855–865 (1989). ArticleCAS Google Scholar
Koike, S. et al. The poliovirus receptor protein is produced both as membrane-bound and secreted forms. EMBO J.9, 3217–3224 (1990). ArticleCAS Google Scholar
Eberle, F., Dubreuil, P., Mattei, M.G., Devilard, E. & Lopez, M. The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine MPH gene. Gene159, 267–272 (1995). ArticleCAS Google Scholar
Schonk, D. et al. Assignment of seven genes to distinct intervals on the midportion of human chromosome 19q surrounding the myotonic dystrophy gene region. Cytogenet. Cell Genet.54, 15–19 (1990). ArticleCAS Google Scholar
Trask, B. et al. Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers. Genomics15, 133–145 (1993). ArticleCAS Google Scholar
Stein, J. et al. Nonsyndromic cleft lip with or without cleft palate: evidence of linkage to BCL3 in 17 multigenerational families. Am. J. Hum. Genet.57, 257–272 (1995). CASPubMedPubMed Central Google Scholar
Amos, C., Gasser, D. & Hecht, J.T. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. Am. J. Hum. Genet.59, 743–744 (1996). CASPubMedPubMed Central Google Scholar
Wyszynski, D.F. et al. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families. Hum. Genet.99, 22–26 (1997). ArticleCAS Google Scholar
Helms, J.A. et al. Sonic hedgehog participates in craniofacial morphogenesis and is down-regulated by teratogenic doses of retinoic acid. Dev. Biol.186, 25–35 (1997). Article Google Scholar