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References (17)
-
D. Huntsman, F. Carneiro, F. Lewis, P. MacLeod, A. Hayashi, K. Monaghan, R. Maung, R. Seruca, C. Jackson, C. Caldas (2001)
Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations.The New England journal of medicine, 344 25
-
Koji Suzuki, D. Hu, T. Bustos, J. Zlotogora, A. Richieri‐Costa, J. Helms, R. Spritz (2000)
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasiaNature Genetics, 25
-
W. Grady, J. Willis, P. Guilford, A. Dunbier, T. Toro, H. Lynch, G. Wiesner, Kelly Ferguson, C. Eng, Jae‐Gahb Park, Seong-Jin Kim, S. Markowitz (2000)
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancerNature Genetics, 26
-
F. Richards, S. McKee, M. Rajpar, T. Cole, D. Evans, J. Jankowski, C. Mckeown, D. Sanders, E. Maher (1999)
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.Human molecular genetics, 8 4
-
P. Guilford, J. Hopkins, J. Harraway, M. McLeod, N. McLeod, Pauline Harawira, H. Taite, Robin Scoular, A. Miller, A. Reeve (1998)
E-cadherin germline mutations in familial gastric cancerNature, 392
-
Juanliang Cai, David Ash, L. Kotch, E. Jabs, T. Attié-Bitach, J. Augé, G. Mattei, H. Etchevers, M. Vekemans, Y. Korshunova, Rose Tidwell, David Messina, Julia Winston, M. Lovett (2005)
Gene expression in pharyngeal arch 1 during human embryonic development.Human molecular genetics, 14 7
-
Montenegro Ma, M. Rojas, S. Domínguez, A. Vergara (2000)
Cytokeratin, vimentin and E-cadherin immunodetection in the embryonic palate in two strains of mice with different susceptibility to glucocorticoid-induced clefting.Journal of craniofacial genetics and developmental biology, 20 3
-
P. Stanier, G. Moore (2004)
Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.Human molecular genetics, 13 Spec No 1
-
K. Tachibana, H. Nakanishi, K. Mandai, K. Ozaki, W. Ikeda, Yasunori Yamamoto, A. Nagafuchi, S. Tsukita, Y. Takai (2000)
Two Cell Adhesion Molecules, Nectin and Cadherin, Interact through Their Cytoplasmic Domain–Associated ProteinsThe Journal of Cell Biology, 150
-
D. Wyszynski, D. Wyszynski, Terri Beaty, N. Maestri (1996)
Genetics of nonsyndromic oral clefts revisited.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 33 5
-
P. Frischmeyer, H. Dietz (1999)
Nonsense-mediated mRNA decay in health and disease.Human molecular genetics, 8 10
-
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Carla Oliveira, J. Bruin, S. Nabais, M. Ligtenberg, Cátia Moutinho, F. Nagengast, R. Seruca, H. Krieken, F. Carneiro (2004)
Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumourOncogene, 23
-
G. Suriano, Carla Oliveira, P. Ferreira, J. Machado, M. Bordin, O. Wever, E. Bruyneel, N. Moguilevsky, N. Grehan, T. Porter, F. Richards, R. Hruban, F. Roviello, D. Huntsman, M. Mareel, F. Carneiro, C. Caldas, R. Seruca (2003)
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands.Human molecular genetics, 12 5
-
A. Brooks-Wilson, P. Kaurah, G. Suriano, S. Leach, J. Senz, N. Grehan, Y. Butterfield, J. Jeyes, J. Schinas, J. Bacani, M. Kelsey, P. Ferreira, B. MacGillivray, P. MacLeod, M. Micek, J. Ford, W. Foulkes, K. Australie, C. Greenberg, M. LaPointe, C. Gilpin, S. Nikkel, D. Gilchrist, R. Hughes, C. Jackson, K. Monaghan, M. Oliveira, R. Seruca, S. Gallinger, C. Caldas, D. Huntsman (2004)
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteriaJournal of Medical Genetics, 41
-
J. Klingelhöfer, O. Laur, R. Troyanovsky, S. Troyanovsky (2002)
Dynamic Interplay between Adhesive and Lateral E-Cadherin DimersMolecular and Cellular Biology, 22
-
P. Guilford, J. Hopkins, W. Grady, S. Markowitz, J. Willis, H. Lynch, A. Rajput, G. Wiesner, N. Lindor, L. Burgart, T. Toro, Don Lee, J. Limacher, D. Shaw, Mike Findlay, A. Reeve (1999)
E‐cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancerHuman Mutation, 14
- Publisher
- British Medical Journal
- Copyright
- Copyright 2006 Journal of Medical Genetics
- ISSN
- 0022-2593
- eISSN
- 1468-6244
- DOI
- 10.1136/jmg.2005.031385
- Publisher site
- See Article on Publisher Site
Abstract
We report the association of CDH1/E-cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in-frame deletion, removing the extracellular cadherin repeat domains involved in cell-cell adhesion. Such transcripts might encode mutant proteins with trans-dominant negative effects. We found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development. These findings suggest that alteration of the E-cadherin pathway can contribute to human clefting.
Journal
Journal of Medical Genetics – British Medical Journal
Published: Feb 7, 2006
Keywords: CL, cleft lip; CLP, cleft lip with or without cleft palate; COGENE, Craniofacial and Oral Gene Expression Network Consortium; HDGC, hereditary diffuse gastric cancer; NMD, nonsense mediated decay; CDH1/E-cadherin; cleft lip/palate; gastric cancer