E-cadherin variants associated with oral facial clefts trigger aberrant cell motility in a REG1A-dependent manner

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.

Article  PubMed  Google Scholar 

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.

Article  PubMed  Google Scholar 

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.

Article  PubMed  Google Scholar 

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.

Article  CAS  Google Scholar 

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.

Article  PubMed  Google Scholar 

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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