List of works - Joana Figueiredo

A novel CDH1 germline missense mutation in a sporadic gastric cancer patient in north-east of Italy

scientific article published on 29 April 2012

A subset of colorectal carcinomas express c-KIT protein independently of BRAF and/or KRAS activation

scientific article published on 9 May 2007

Atomic force microscopy and graph analysis to study the P-cadherin/SFK mechanotransduction signalling in breast cancer cells.

scientific article published on 16 November 2016

BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations

scientific article published on February 2008

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

scientific article published on 23 October 2011

Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer

scientific article published on 16 May 2018

Clinical spectrum and pleiotropic nature of CDH1 germline mutations

scientific article published on 19 January 2019

DNAJB4 molecular chaperone distinguishes WT from mutant E-cadherin, determining their fate in vitro and in vivo.

scientific article published on 29 November 2013

E-Cadherin Alterations in Hereditary Disorders with Emphasis on Hereditary Diffuse Gastric Cancer

scientific article published on January 1, 2013

E-cadherin and adherens-junctions stability in gastric carcinoma: functional implications of glycosyltransferases involving N-glycan branching biosynthesis, N-acetylglucosaminyltransferases III and V.

scientific article published on March 2013

E-cadherin deregulation in breast cancer

scientific article published on 16 April 2020

E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer

scientific article

E-cadherin dysfunction in gastric cancer--cellular consequences, clinical applications and open questions

scientific article published on 25 July 2012

E-cadherin germline mutation carriers: clinical management and genetic implications

scientific article

E-cadherin mutations and cell motility: a genotype-phenotype correlation.

scientific article published on 4 March 2009

E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer

scientific article published on 01 August 2018

E-cadherin-defective gastric cancer cells depend on Laminin to survive and invade

scientific article

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer.

scientific article published on 4 September 2008

Epithelial E- and P-cadherins: role and clinical significance in cancer

scientific article published on 19 May 2012

Familial gastric cancer: genetic susceptibility, pathology, and implications for management

scientific article

Geometric compensation applied to image analysis of cell populations with morphological variability: a new role for a classical concept.

scientific article published on 6 July 2018

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

scientific article published on 17 June 2020

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

scientific article

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

scientific article published on 29 November 2012

Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.

scientific article published on 12 December 2017

Preventing E-cadherin aberrant N-glycosylation at Asn-554 improves its critical function in gastric cancer

scientific article published on 20 July 2015

Proliferation and survival molecules implicated in the inhibition of BRAF pathway in thyroid cancer cells harbouring different genetic mutations.

scientific article

Proteomic Identification of a Gastric Tumor ECM Signature Associated With Cancer Progression

scientific article published on 01 March 2022

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

scientific article

Quantification of topological features in cell meshes to explore E-cadherin dysfunction

scientific article published on 6 May 2016

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

scientific article

SERPINA2 is a novel gene with a divergent function from SERPINA1

scientific article published in 2013

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

scientific article published on 01 November 2018

The germline CDH1 c.48 G>C substitution contributes to cancer predisposition through generation of a pro-invasive mutation

scientific article published on 13 October 2014

Therapeutic targets associated to E-cadherin dysfunction in gastric cancer.

scientific article published on 19 August 2013

List of works by Joana Figueiredo

A novel CDH1 germline missense mutation in a sporadic gastric cancer patient in north-east of Italy

A subset of colorectal carcinomas express c-KIT protein independently of BRAF and/or KRAS activation

Atomic force microscopy and graph analysis to study the P-cadherin/SFK mechanotransduction signalling in breast cancer cells.

BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations

CDH1-related hereditary diffuse gastric cancer syndrome: clinical variations and implications for counseling.

Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer

Clinical spectrum and pleiotropic nature of CDH1 germline mutations

DNAJB4 molecular chaperone distinguishes WT from mutant E-cadherin, determining their fate in vitro and in vivo.

E-Cadherin Alterations in Hereditary Disorders with Emphasis on Hereditary Diffuse Gastric Cancer

E-cadherin and adherens-junctions stability in gastric carcinoma: functional implications of glycosyltransferases involving N-glycan branching biosynthesis, N-acetylglucosaminyltransferases III and V.

E-cadherin deregulation in breast cancer

E-cadherin destabilization accounts for the pathogenicity of missense mutations in hereditary diffuse gastric cancer

E-cadherin dysfunction in gastric cancer--cellular consequences, clinical applications and open questions

E-cadherin germline mutation carriers: clinical management and genetic implications

E-cadherin mutations and cell motility: a genotype-phenotype correlation.

E-cadherin signal sequence disruption: a novel mechanism underlying hereditary cancer

E-cadherin-defective gastric cancer cells depend on Laminin to survive and invade

Endoplasmic reticulum quality control: a new mechanism of E-cadherin regulation and its implication in cancer.

Epithelial E- and P-cadherins: role and clinical significance in cancer

Familial gastric cancer: genetic susceptibility, pathology, and implications for management

Geometric compensation applied to image analysis of cell populations with morphological variability: a new role for a classical concept.

Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.

Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.

Preventing E-cadherin aberrant N-glycosylation at Asn-554 improves its critical function in gastric cancer

Proliferation and survival molecules implicated in the inhibition of BRAF pathway in thyroid cancer cells harbouring different genetic mutations.

Proteomic Identification of a Gastric Tumor ECM Signature Associated With Cancer Progression

Quantification of mutant E-cadherin using bioimaging analysis of in situ fluorescence microscopy. A new approach to CDH1 missense variants.

Quantification of topological features in cell meshes to explore E-cadherin dysfunction

Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate

SERPINA2 is a novel gene with a divergent function from SERPINA1

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

The germline CDH1 c.48 G>C substitution contributes to cancer predisposition through generation of a pro-invasive mutation

Therapeutic targets associated to E-cadherin dysfunction in gastric cancer.