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20 Results Found

  • Article
  • Open Access
5 Citations
2,933 Views
14 Pages

Subphenotypes in Non-Syndromic Orofacial Cleft Patients Based on the Tooth Agenesis Code (TAC)

  • Dimitrios Konstantonis,
  • Maria Nassika,
  • Maria Athanasiou and
  • Heleni Vastardis

20 March 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. Methods: A total of 183 orofacial cle...

  • Feature Paper
  • Article
  • Open Access
2 Citations
2,412 Views
11 Pages

24 November 2024

Background: Tooth agenesis is the most frequently occurring genetic developmental anomaly in clinical dentistry. The MSX1 gene, essential for tooth development, has been associated with non-syndromic tooth agenesis. This study aims to identify novel...

  • Article
  • Open Access
583 Views
17 Pages

30 October 2025

Background/Objectives: Non-syndromic tooth agenesis (NSTA) is a congenital condition that causes the absence of one or more teeth without accompanying systemic abnormalities, which significantly affects quality of life. Genetic factors, including mut...

  • Article
  • Open Access
1,942 Views
11 Pages

Exonic and Intronic WNT10A Variants Isolated from Korean Children with Non-Syndromic Tooth Agenesis

  • Yeonjin Ju,
  • Joo Yeon Lee,
  • Woochang Hwang,
  • Jonghyun Shin,
  • Hyung-Sik Kim,
  • Junho K. Hur and
  • Eungyung Lee

Background/Objectives: Tooth agenesis (TA) is a developmental anomaly prevalent in humans. It is particularly significant in children and adolescents because it is related to esthetic, physiological, and functional problems, including malocclusion, p...

  • Article
  • Open Access
12 Citations
3,075 Views
12 Pages

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns

  • Haochen Liu,
  • Hangbo Liu,
  • Lanxin Su,
  • Jinglei Zheng,
  • Hailan Feng,
  • Yang Liu,
  • Miao Yu and
  • Dong Han

The purpose of this research was to investigate and identify PAX9 gene variants in four Chinese families with non-syndromic tooth agenesis. We identified pathogenic gene variants by whole-exome sequencing (WES) and Sanger sequencing and then studied...

  • Article
  • Open Access
18 Citations
4,006 Views
19 Pages

Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing

  • Barbara Biedziak,
  • Ewa Firlej,
  • Justyna Dąbrowska,
  • Agnieszka Bogdanowicz,
  • Małgorzata Zadurska and
  • Adrianna Mostowska

15 October 2022

Non-syndromic tooth agenesis (ns-TA) is one of the most common dental anomalies characterized by the congenital absence of at least one permanent tooth (excluding third molars). Regarding the essential role of genetic factors in ns-TA aetiology, the...

  • Systematic Review
  • Open Access
1,122 Views
16 Pages

5 November 2025

Background: Tooth development or odontogenesis is a complicated, multi-staged process, regulated by a plethora of genes. Disruptions during the early stages of odontogenesis may cause the complete absence of one or more teeth, known as tooth agenesis...

  • Article
  • Open Access
35 Citations
6,803 Views
15 Pages

5 October 2017

Abstract: Both X-linked hypohidrotic ectodermal dysplasia (XLHED) and non-syndromic tooth agenesis (NSTA) result in symptoms of congenital tooth loss. This study investigated genetic causes in two families with XLHED and four families with NSTA. We s...

  • Article
  • Open Access
7 Citations
2,485 Views
13 Pages

Dose Dependence Effect in Biallelic WNT10A Variant-Associated Tooth Agenesis Phenotype

  • Haochen Liu,
  • Bichen Lin,
  • Hangbo Liu,
  • Lanxin Su,
  • Hailan Feng,
  • Yang Liu,
  • Miao Yu and
  • Dong Han

7 December 2022

The goal of this study was to identify the pathogenic gene variants in patients with odonto-onycho-dermal dysplasia syndrome (OODD) or nonsyndromic tooth agenesis. Four unrelated individuals with tooth agenesis and their available family members were...

  • Article
  • Open Access
4 Citations
2,659 Views
11 Pages

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia

  • Yejin Lee,
  • Wonseon Chae,
  • Youn Jung Kim and
  • Jung-Wook Kim

29 August 2022

The process of tooth formation is a series of reciprocal interactions between the ectoderm and mesoderm, and it is believed that many genetic factors are involved in this complex process. More than a dozen genes have been identified in non-syndromic...

  • Review
  • Open Access
1 Citations
3,900 Views
14 Pages

Genetic Aspects of Tooth Agenesis

  • Clarissa Modafferi,
  • Ilaria Tucci,
  • Francesco Maria Bogliardi,
  • Elena Gimondo,
  • Pietro Chiurazzi,
  • Elisabetta Tabolacci and
  • Cristina Grippaudo

15 May 2025

Tooth agenesis is among the most prevalent congenital anomalies affecting human dentition, characterized by the developmental absence of one or more teeth. This condition may be present in either syndromic or non-syndromic forms, with significant imp...

  • Article
  • Open Access
8 Citations
2,884 Views
15 Pages

KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects

  • Miao Yu,
  • Hangbo Liu,
  • Yang Liu,
  • Jinglei Zheng,
  • Junyi Wu,
  • Kai Sun,
  • Hailan Feng,
  • Haochen Liu and
  • Dong Han

18 October 2022

Keratinocyte differentiation factor 1 (KDF1) is a recently identified and rare candidate gene for human tooth agenesis; however, KDF1-related morphological characteristics and pathological changes in dental tissue and the oral epithelium remain large...

  • Article
  • Open Access
11 Citations
2,772 Views
13 Pages

Sexual Dimorphism in Third Molar Agenesis in Humans with and without Agenesis of Other Teeth

  • Ragda Alamoudi,
  • Mohammed Ghamri,
  • Ilias Mistakidis and
  • Nikolaos Gkantidis

28 November 2022

Sexual dimorphism in the human dentition is of interest from a developmental, evolutionary, and clinical point of view. Here, we investigated sexual dimorphism in third molar agenesis patterns and severity in non-syndromic white European individuals...

  • Article
  • Open Access
26 Citations
6,478 Views
17 Pages

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

  • Asia Parveen,
  • Sher Alam Khan,
  • Muhammad Usman Mirza,
  • Hina Bashir,
  • Fatima Arshad,
  • Maria Iqbal,
  • Waseem Ahmad,
  • Ahsan Wahab,
  • Amal Fiaz and
  • Naveed Wasif
  • + 13 authors

24 October 2019

The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the...

  • Review
  • Open Access
3 Citations
4,567 Views
15 Pages

Tooth Agenesis Patterns in Orofacial Clefting Using Tooth Agenesis Code: A Meta-Analysis

  • Brian J. Howe,
  • Chandler Pendleton,
  • Miyuraj Harishchandra Hikkaduwa Withanage,
  • Christopher A. Childs,
  • Erliang Zeng,
  • Arjen van Wijk,
  • Ruurd Hermus,
  • Carmencita Padilla,
  • Jacqueline T. Hecht and
  • Xian-Jin Xie
  • + 12 authors

5 July 2022

Individuals with orofacial clefting (OFC) have a higher prevalence of tooth agenesis (TA) overall. Neither the precise etiology of TA, nor whether TA occurs in patterns that differ by gender or cleft type is yet known. This meta-analysis aims to iden...

  • Article
  • Open Access
3 Citations
2,721 Views
11 Pages

Availability of Third Molars as Donor Teeth for Autotransplantation to Replace Congenitally Absent Second Premolars in Children and Young Adults

  • Małgorzata Bilińska,
  • Tomasz Burzykowski,
  • Paweł Plakwicz,
  • Małgorzata Zadurska and
  • Ewa Monika Czochrowska

The aim of the study was to assess the presence and distribution of third molars (M3) regarding their autotransplantation in patients with congenital absence of second premolars (PM2). Additionally, M3 development in relation to patients’ age a...

  • Case Report
  • Open Access
3 Citations
5,461 Views
9 Pages

Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars

  • Arina Vinereanu,
  • Aneta Munteanu,
  • Francois Clauss and
  • Eusebiu Vlad Gorduza

25 January 2024

Primary failure of eruption (PFE) is a rare non-syndromic condition involving total or partial non-eruption of posterior teeth in the absence of mechanical obstruction. This paper presents the case of a healthy girl referred at age 4 for asymmetry of...

  • Review
  • Open Access
1,805 Views
24 Pages

Dissecting the Genetic Contribution of Tooth Agenesis

  • Antonio Fallea,
  • Mirella Vinci,
  • Simona L’Episcopo,
  • Massimiliano Bartolone,
  • Antonino Musumeci,
  • Alda Ragalmuto,
  • Simone Treccarichi and
  • Francesco Calì

28 October 2025

Tooth agenesis (TA), the congenital absence of one or more teeth, is the most common manifestation of defective dental morphogenesis in humans. TA can occur as an isolated (non-syndromic) condition or as part of a broader syndromic presentation. In t...

  • Case Report
  • Open Access
4 Citations
4,317 Views
20 Pages

17 November 2023

Background: The risk of palatally displaced canines (PDCs) rises in patients with tooth agenesis. The orthodontic extrusion and alignment of PDCs require adequate anchorage to enable tooth movement and control the side effects. There is no paper pres...

  • Case Report
  • Open Access
2 Citations
3,904 Views
13 Pages

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency

  • Victoria-Eugenia García-Martínez,
  • Ximo Galiana-Vallés,
  • Otilia Zomeño-Alcalá,
  • Raquel Rodríguez-López,
  • Carmen Llena,
  • María del Carmen Martínez-Romero and
  • Encarna Guillén-Navarro

10 February 2023

Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth. Pathogenic varia...