Subphenotypes in Non-Syndromic Orofacial Cleft Patients Based on the Tooth Agenesis Code (TAC)
Children, 2022 Background: It was the aim of this study to investigate tooth agenesis patterns, which are expressed to different subphenotypes according to the TAC method in a spectrum of non-syndromic orofacial cleft patients.
Dimitrios Konstantonis +3 more
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Permanent tooth agenesis in non-syndromic Robin sequence and cleft palate: prevalence and patterns [PDF]
, 2016 Objectives: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population.
Breugem, C. (Corstiaan) +7 more
core +5 more sources
TOOTH AGENESIS - THE PROBLEM AND ITS SOLVING IN OUR PRACTICE, PREVALENCE AND RELATION WITH OTHER DEFORMITIES. [PDF]
Journal of IMAB, 2015 Tooth agenesis is an orthodontic abnormality affecting the number of teeth. This leads to various types of malocclusion, disturbance in the masticatory function and poor esthetics. This survey includes 1510 orthodontic patients treated by us.
Greta Yordanova
doaj +1 more source
Novel WNT10A variant in a Japanese case of nonsyndromic oligodontia
Human Genome Variation, 2023 Congenital tooth agenesis is one of the most common anomalies in humans. Many genetic factors are involved in tooth development, including MSX1, PAX9, WNT10A, and LRP6. Thus, mutations in these genes can cause congenital tooth agenesis in humans. In this
Junya Adachi +15 more
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Research progress on pathogenic genes and molecular mechanisms of nonsyndromic tooth agenesis
口腔疾病防治, 2020 Tooth agenesis is a common tooth number deficiency that occurs in the tooth-forming process or earlier period of tooth germ development and has a serious impact on the maxillofacial development, aesthetics and masticatory function of patients.
XIE Weihong, YU Dongsheng, ZHAO Wei
doaj +1 more source
Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis. [PDF]
PLoS ONE, 2016 Recent studies have demonstrated that ectodysplasin-A (EDA) mutations are associated with non-syndromic tooth agenesis. Indeed, we were the first to report three novel EDA mutations (A259E, R289C and R334H) in sporadic non-syndromic tooth agenesis.
Wenjing Shen +8 more
doaj +1 more source
Genetic Variants in miRNAs Are Associated With Risk of Non-syndromic Tooth Agenesis
Frontiers in Physiology, 2020 Non-syndromic tooth agenesis (NSTA) is one of the most common dental abnormalities. MiRNAs participated in the craniofacial and tooth development. Therefore, single nucleotide polymorphisms (SNPs) in miRNA genes may contribute to the susceptibility of ...
Min Gu +19 more
doaj +1 more source
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population. [PDF]
PLoS ONE, 2013 BACKGROUND: Dental agenesis is the most common, often heritable, developmental anomaly in humans. Although WNT10A gene mutations are known to cause rare syndromes associated with tooth agenesis, including onycho-odontodermal dysplasia (OODD), Schöpf ...
Huiying He +6 more
doaj +1 more source
Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate [PDF]
, 2012 Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact. Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P ...
Alexandre R. Vieira +18 more
core +10 more sources
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
npj Genomic Medicine, 2021 Low-density lipoprotein receptor-related protein 6 (LRP6) is a pathogenic gene of selective tooth agenesis-7 (OMIM#616724). Although the malformation of the digits and fore- and hindlimbs has been reported in Lrp6-deficient mice, it has been rarely ...
Liutao Zhang +7 more
doaj +1 more source