Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, et al. E-cadherin germline mutations in familial gastric cancer. Nature. 1998;392(6674):402–5.
Article ADS CAS PubMed Google Scholar
Blair VR, McLeod M, Carneiro F, Coit DG, D’Addario JL, van Dieren JM, et al. Hereditary diffuse gastric cancer: updated clinical practice guidelines. Lancet Oncol. 2020;21(8):e386–97.
Article CAS PubMed PubMed Central Google Scholar
Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F. Familial gastric cancer: genetic susceptibility, pathology, and implications for management. Lancet Oncol. 2015;16(2):e60-70.
Figueiredo J, Melo S, Carneiro P, Moreira AM, Fernandes MS, Ribeiro AS, et al. Clinical spectrum and pleiotropic nature of CDH1 germline mutations. J Med Genet. 2019;56(4):199–208.
Article CAS PubMed Google Scholar
Frebourg T, Oliveira C, Hochain P, Karam R, Manouvrier S, Graziadio C, et al. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet. 2006;43(2):138–42.
Article CAS PubMed PubMed Central Google Scholar
Vogelaar IP, Figueiredo J, van Rooij IA, Simoes-Correia J, van der Post RS, Melo S, et al. Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. Hum Mol Genet. 2013;22(5):919–26.
Article CAS PubMed Google Scholar
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009;374(9703):1773–85.
Alois CI, Ruotolo RA. An overview of cleft lip and palate. JAAPA : official journal of the American Academy of Physician Assistants. 2020;33(12):17–20.
Wehby GL, Cassell CH. The impact of orofacial clefts on quality of life and healthcare use and costs. Oral Dis. 2010;16(1):3–10.
Article CAS PubMed Google Scholar
Harrison OJ, Jin X, Hong S, Bahna F, Ahlsen G, Brasch J, et al. The extracellular architecture of adherens junctions revealed by crystal structures of type I cadherins. Structure. 2011;19(2):244–56.
Article CAS PubMed PubMed Central Google Scholar
Selvanathan A, Nixon CY, Zhu Y, Scietti L, Forneris F, Uribe LMM, et al. CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer. Genes. 2020;11(4):391.
Meng L, Bian Z, Torensma R, Von den Hoff JW. Biological mechanisms in palatogenesis and cleft palate. J Dent Res. 2009;88(1):22–33.
Article CAS PubMed Google Scholar
Figueiredo J, Soderberg O, Simoes-Correia J, Grannas K, Suriano G, Seruca R. The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. European journal of human genetics : EJHG. 2013;21(3):301–9.
Article CAS PubMed Google Scholar
Figueiredo J, Mercadillo F, Melo S, Barroso A, Goncalves M, Diaz-Tasende J, et al. Germline CDH1 G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden. Cancers. 2021;13(17):4359.
Berg S, Kutra D, Kroeger T, Straehle CN, Kausler BX, Haubold C, et al. ilastik: interactive machine learning for (bio)image analysis. Nat Methods. 2019;16(12):1226–32.
Article CAS PubMed Google Scholar
Schindelin J, Arganda-Carreras I, Frise E, Kaynig V, Longair M, Pietzsch T, et al. Fiji: an open-source platform for biological-image analysis. Nat Methods. 2012;9(7):676–82.
Article CAS PubMed Google Scholar
Kad N. Program to create Mean Squared displacement data from diffusion. [Software]. In press 2019.
Carpenter AE, Jones TR, Lamprecht MR, Clarke C, Kang IH, Friman O, et al. Cell Profiler: image analysis software for identifying and quantifying cell phenotypes. Genome Biol. 2006;7(10):R100.
Article PubMed PubMed Central Google Scholar
da Huang W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009;4(1):44–57.
Article CAS PubMed Google Scholar
Corso G, Roviello F, Paredes J, Pedrazzani C, Novais M, Correia J, et al. Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management. Eur J Surg Oncol. 2007;33(9):1061–7.
Article CAS PubMed Google Scholar
Pereira J, Melo S, Carneiro P, Fernandes MS, Figueiredo J, Seruca R. Revisiting the Biological and Clinical Impact of CDH1 Missense Variants. In: Corso G, Veronesi P, Roviello F, editors. Hereditary Gastric and Breast Cancer Syndrome. Cham: Springer; 2023. p. 79–97. https://doi.org/10.1007/978-3-031-21317-5_6.
Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, et al. Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate. Hum Mutat. 2015;36(11):1029–33.
Article CAS PubMed Google Scholar
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, et al. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Eur J Human. 2018;26(2):210–9.
Montell DJ. Border-cell migration: the race is on. Nat Rev Mol Cell Biol. 2003;4(1):13–24.
Article CAS PubMed Google Scholar
Mierke CT. The matrix environmental and cell mechanical properties regulate cell migration and contribute to the invasive phenotype of cancer cells. Reports on progress in physics Physical Society. 2019;82(6): 064602.
Article ADS CAS Google Scholar
Hara K, Fukui H, Sun C, Kitayama Y, Eda H, Yamasaki T, et al. Effect of REG Ialpha protein on angiogenesis in gastric cancer tissues. Oncol Rep. 2015;33(5):2183–9.
Article CAS PubMed Google Scholar
Geng J, Fan J, Wang Q, Zhang XP, Kang L, Li QY, et al. Decreased REG1alpha expression suppresses growth, invasion and angiogenesis of bladder cancer. Eur J Surg Oncol. 2017;43(4):837–46.
Article CAS PubMed Google Scholar
Antiguas A, Paul BJ, Dunnwald M. To Stick or Not to Stick: Adhesions in Orofacial Clefts. Biology. 2022;11(2):153.
Jiang R, Bush JO, Lidral AC. Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn. 2006;235(5):1152–66.
Article CAS PubMed PubMed Central Google Scholar
Kini U. Genetics and orofacial clefts: a clinical perspective. Br Dent J. 2023;234(12):947–52.
Article PubMed PubMed Central Google Scholar
Wan M, Cao X. BMP signaling in skeletal development. Biochem Biophys Res Commun. 2005;328(3):651–7.
Article MathSciNet CAS PubMed Google Scholar
Chen L, Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005;10:1961–76.
Article CAS PubMed Google Scholar
Jeong J, Mao J, Tenzen T, Kottmann AH, McMahon AP. Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev. 2004;18(8):937–51.
Article CAS PubMed PubMed Central Google Scholar
Mani P, Jarrell A, Myers J, Atit R. Visualizing canonical Wnt signaling during mouse craniofacial development. Dev Dyn. 2010;239(1):354–63.
Article CAS PubMed PubMed Central Google Scholar
Kluijt I, Siemerink EJ, Ausems MG, van Os TA, de Jong D, Simoes-Correia J, et al. CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling. Int J Cancer. 2012;131(2):367–76.
Article CAS PubMed Google Scholar
Roviello F, Corso G, Pedrazzani C, Marrelli D, De Falco G, Berardi A, et al. Hereditary diffuse gastric cancer and E-cadherin: description of the first germline mutation in an Italian family. Eur J Surg Oncol. 2007;33(4):448–51.
Article CAS PubMed Google Scholar
Sanches JM, Figueiredo J, Fonseca M, Duraes C, Melo S, Esmenio S, et al. Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants. European journal of human genetics : EJHG. 2015;23(8):1072–9.
Article CAS PubMed Google Scholar
Worley ML, Patel KG, Kilpatrick LA. Cleft Lip and Palate. Clin Perinatol. 2018;45(4):661–78.
Carneiro F, Huntsman DG, Smyrk TC, Owen DA, Seruca R, Pharoah P, et al. Model of the early development of diffuse gastric cancer in E-cadherin mutation carriers and its implications for patient screening. J Pathol. 2004;203(2):681–7.
Article CAS PubMed Google Scholar
Goodwin K, Lostchuck EE, Cramb KML, Zulueta-Coarasa T, Fernandez-Gonzalez R, Tanentzapf G. Cell-cell and cell-extracellular matrix adhesions cooperate to organize actomyosin networks and maintain force transmission during dorsal closure. Mol Biol Cell. 2017;28(10):1301–10.
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