Patterns of dental agenesis highlight the nature of the causative mutated genes
BP Fournier, MH Bruneau, S Toupenay… - Journal of dental …, 2018 - journals.sagepub.com
The most common outcome of defective dental morphogenesis in human patients is dental
agenesis (absence of teeth). This may affect either the primary or permanent dentition and …
agenesis (absence of teeth). This may affect either the primary or permanent dentition and …
[HTML][HTML] The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective
Y Gao, X Jiang, Z Wei, H Long, W Lai - Frontiers in Genetics, 2023 - frontiersin.org
Non-syndromic tooth agenesis (NSTA) is one of the most common dental developmental
malformations affected by genetic factors predominantly. Among all 36 candidate genes …
malformations affected by genetic factors predominantly. Among all 36 candidate genes …
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth
agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic …
agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic …
[HTML][HTML] EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression
YJ Lee, YJ Kim, W Chae, SH Kim, JW Kim - Genes, 2024 - mdpi.com
Background/Objectives: The ectodysplasin A (EDA) gene, a member of the tumor necrosis
factor ligand superfamily, is involved in the early epithelial–mesenchymal interaction that …
factor ligand superfamily, is involved in the early epithelial–mesenchymal interaction that …
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A …
HA Ahmed, GY El-Kamah, E Rabie, MI Mostafa… - Genes, 2021 - mdpi.com
Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital
defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and …
defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and …
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
F Andreoni, C Sgattoni, D Bencardino… - Molecular genetics & …, 2021 - Wiley Online Library
Background Hypohidrotic ectodermal dysplasia (HED) is the most common form of
ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, and …
ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, and …
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G
V Reinhold, S Syrjänen… - Molecular Genetics & …, 2023 - Wiley Online Library
Background Ectodermal dysplasias are inherited disorders, which are characterized by
congenital defects in two or more ectodermal structures such as skin, sweat glands, hair …
congenital defects in two or more ectodermal structures such as skin, sweat glands, hair …
KDF1 is a novel candidate gene of non-syndromic tooth agenesis
B Zeng, H Lu, X **ao, X Yu, S Li, L Zhu, D Yu… - Archives of Oral …, 2019 - Elsevier
Objective Tooth agenesis (TA) is featured by congenital loss of teeth, and can be divided
into two subtypes, non-syndromic TA (NSTA) and syndromic TA (STA). Although 12 …
into two subtypes, non-syndromic TA (NSTA) and syndromic TA (STA). Although 12 …
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases
D Šimčíková, P Heneberg - Scientific Reports, 2019 - nature.com
Prediction methods have become an integral part of biomedical and biotechnological
research. However, their clinical interpretations are largely based on biochemical or …
research. However, their clinical interpretations are largely based on biochemical or …
Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital …
Congenital tooth agenesis in human is characterized by failure of tooth development during
tooth organogenesis. 300 genes in mouse and 30 genes in human so far have been known …
tooth organogenesis. 300 genes in mouse and 30 genes in human so far have been known …