Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
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DOI: 10.1038/s41431-017-0010-5
Abstract: Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the… read more here.
Keywords: cdh1; blepharocheilodontic syndrome; ctnnd1; catenin ... See more keywords
Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”
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DOI: 10.3389/fped.2023.1180381
Abstract: Background The p120-ctn protein, encoded by CTNND1, is involved in intercellular connections and regulates epithelial–mesenchymal transformation. CTNND1 mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and… read more here.
Keywords: case report; pathology; mutation; ctnnd1 ... See more keywords
Circ_0075960 targets the miR-202-5p/CTNND1 axis to promote the growth and migration of endometrial carcinoma cells via regulating Wnt/β-catenin signaling activity
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DOI: 10.3802/jgo.2023.34.e11
Abstract: Background Endometrial carcinoma (EC) is one of the most common malignant tumors of the female reproductive tract, involving multiple molecular alterations. Circular RNA (circRNA) dysregulation is frequently observed in EC tissues, suggesting the involvement of… read more here.
Keywords: wnt catenin; circ 0075960; catenin signaling; mir 202 ... See more keywords