Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.

Genes - 15 Nov 2024

Gossner Lea, Rieder Dietmar, Müller Thomas, Janecke Andreas R

Abstract excerpt

Objective: Congenital, non-syndromic orofacial clefts (CL/P) are infrequently monogenic in etiology. However, heterozygous pathogenic CDH1 germline variants were reported in a few non-syndromic CL/P families, as well as in one syndromic form of CL/P: the blepharocheilodontic syndrome. CDH1 encodes epithelial cadherin (E-cadherin), and close to 300 different pathogenic CDH1 variants are listed in the ClinVar...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to Antigens, CD
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Germ-Line Mutation

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Stomach Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 39596675
DOI: 10.3390/genes15111475
PMCID: PMC11594193

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer.PMID 39596675Read ↗

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.Semantic proximity Read ↗

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.Semantic proximity Read ↗

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.Semantic proximity Read ↗

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.Semantic proximity Read ↗

E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer.Semantic proximity Read ↗

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.Semantic proximity Read ↗

CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk.Semantic proximity Read ↗

CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And TreatmentSemantic proximity Read ↗

Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.Semantic proximity Read ↗

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)Semantic proximity Read ↗

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer.Semantic proximity Read ↗

Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.