Genetics of cleft lip and/or cleft palate: association with other common anomalies
N Setó-Salvia, P Stanier - European journal of medical genetics, 2014 - Elsevier
Cleft lip and/or cleft palate (CL/P) collectively are well known as being amongst the most
common birth defects but we still have difficulty explaining why the majority of cases occur …
common birth defects but we still have difficulty explaining why the majority of cases occur …
[HTML][HTML] Clinical spectrum and pleiotropic nature of CDH1 germline mutations
J Figueiredo, S Melo, P Carneiro, AM Moreira… - Journal of Medical …, 2019 - jmg.bmj.com
CDH1 encodes E-cadherin, a key protein in adherens junctions. Given that E-cadherin is
involved in major cellular processes such as embryogenesis and maintenance of tissue …
involved in major cellular processes such as embryogenesis and maintenance of tissue …
Roles for E-cadherin cell surface regulation in cancer
YI Petrova, L Schecterson… - Molecular biology of the …, 2016 - Am Soc Cell Biol
The loss of E-cadherin expression in association with the epithelial–mesenchymal transition
(EMT) occurs frequently during tumor metastasis. However, metastases often retain E …
(EMT) occurs frequently during tumor metastasis. However, metastases often retain E …
Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models
K Reynolds, P Kumari… - Disease models & …, 2019 - journals.biologists.com
Diverse signaling cues and attendant proteins work together during organogenesis,
including craniofacial development. Lip and palate formation starts as early as the fourth …
including craniofacial development. Lip and palate formation starts as early as the fourth …
Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer
(LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A …
(LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A …
Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts
A dozen genes/regions have been confirmed as genetic risk factors for oral clefts in human
association and linkage studies, and animal models argue even more genes may be …
association and linkage studies, and animal models argue even more genes may be …
Tooth agenesis and orofacial clefting: genetic brothers in arms?
M Phan, F Conte, KD Khandelwal, CW Ockeloen… - Human genetics, 2016 - Springer
Tooth agenesis and orofacial clefts represent the most common developmental anomalies
and their co-occurrence is often reported in patients as well in animal models. The aim of the …
and their co-occurrence is often reported in patients as well in animal models. The aim of the …
Accuracy of hereditary diffuse gastric cancer testing criteria and outcomes in patients with a germline mutation in CDH1
RS Van Der Post, IP Vogelaar, P Manders… - Gastroenterology, 2015 - Elsevier
Background & Aims Germline mutations in the cadherin 1, type 1, E-cadherin gene (CDH1)
cause a predisposition to gastric cancer. We evaluated the ability of the internationally …
cause a predisposition to gastric cancer. We evaluated the ability of the internationally …
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer
S Melo, J Figueiredo, MS Fernandes… - International Journal of …, 2017 - mdpi.com
The role of E-cadherin in Hereditary Diffuse Gastric Cancer (HDGC) is unequivocal.
Germline alterations in its encoding gene (CDH1) are causative of HDGC and occur in about …
Germline alterations in its encoding gene (CDH1) are causative of HDGC and occur in about …
Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1
J Ghoumid, M Stichelbout, AS Jourdain, F Frenois… - Genetics in …, 2017 - nature.com
Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition
characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The …
characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The …