[HTML][HTML] Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities

TH Beaty, ML Marazita, EJ Leslie - F1000Research, 2016 - ncbi.nlm.nih.gov
Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which
combined represent the largest group of craniofacial malformations in humans with an …

[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 …

Hereditary diffuse gastric cancer

L Decourtye-Espiard, P Guilford - Gastroenterology, 2023 - Elsevier
Hereditary diffuse gastric cancer (HDGC) is a dominantly inherited cancer syndrome
characterized by a high incidence of diffuse gastric cancer (DGC) and lobular breast cancer …

Mutations in the epithelial cadherin-p120-catenin complex cause mendelian non-syndromic cleft lip with or without cleft palate

LL Cox, TC Cox, LMM Uribe, Y Zhu, CT Richter… - The American Journal of …, 2018 - cell.com
Non-syndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common
human birth defects and is generally considered a complex trait. Despite numerous loci …

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 …

Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations

H Katoh, S Ishikawa - Journal of human genetics, 2021 - nature.com
The prevalence of gastric cancer (GC) differs among regions worldwide, with the highest
occurrence in east Asia. Thus, its etiology, with respect to ethnic background, environmental …

Genomic analyses in African populations identify novel risk loci for cleft palate

A Butali, PA Mossey, WL Adeyemo… - Human molecular …, 2019 - academic.oup.com
Orofacial clefts are common developmental disorders that pose significant clinical,
economical and psychological problems. We conducted genome-wide association analyses …

Clinical practice guidelines on the treatment of patients with cleft lip, alveolus, and palate: An executive summary

AB Mink van der Molen, JMM van Breugel… - Journal of clinical …, 2021 - mdpi.com
Significant treatment variation exists in the Netherlands between teams treating patients with
cleft lip, alveolus, and/or palate, resulting in a confusing and undesirable situation for …

Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects

L Alvizi, X Ke, LA Brito, R Seselgyte, GE Moore… - Scientific reports, 2017 - nature.com
Non-syndromic cleft lip and/or palate (NSCLP) is a common congenital malformation with a
multifactorial model of inheritance. Although several at-risk alleles have been identified, they …

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 …