Associated Papers
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Overview on new progress of hereditary diffuse gastric cancer with CDH1 variants.
Hu MN et al.
Tumori, 2020
CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.
Selvanathan A et al.
Genes, 2020
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K et al.
Human Mutation, 2018
Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
Toh MR et al.
Jnci Cancer Spectrum, 2018
Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.
Sanches JM et al.
European Journal of Human Genetics : Ejhg, 2015
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.
Hansford S et al.
Jama Oncology, 2015
DNAJB4 molecular chaperone distinguishes WT from mutant E-cadherin, determining their fate in vitro and in vivo.
Simões-Correia J et al.
Human Molecular Genetics, 2014
The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC.
Figueiredo J et al.
European Journal of Human Genetics : Ejhg, 2013
Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.
Corso G et al.
Bmc Cancer, 2012
ADP-ribosylation factor 6 mediates E-cadherin recovery by chemical chaperones.
Figueiredo J et al.
Plos One, 2011
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
Guilford P et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2010
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.
Oliveira C et al.
Gastroenterology, 2009
E-cadherin mutations and cell motility: a genotype-phenotype correlation.
Mateus AR et al.
Experimental Cell Research, 2009
Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer.
Simões-Correia J et al.
Human Molecular Genetics, 2008