Cargando…

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

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 recruited. Peripheral blood was collected from fo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Haochen, Lin, Bichen, Liu, Hangbo, Su, Lanxin, Feng, Hailan, Liu, Yang, Yu, Miao, Han, Dong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776737/ https://www.ncbi.nlm.nih.gov/pubmed/36553094 http://dx.doi.org/10.3390/diagnostics12123087

Ejemplares similares

Four Novel PAX9 Variants and the PAX9-Related Non-Syndromic Tooth Agenesis Patterns
por: Liu, Haochen, et al.
Publicado: (2022)

A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome
por: Lin, Bichen, et al.
Publicado: (2022)

Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans
por: Zhang, Liutao, et al.
Publicado: (2021)

BMPR2 Variants Underlie Nonsyndromic Oligodontia
por: Zheng, Jinglei, et al.
Publicado: (2023)

Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants
por: Kanchanasevee, Charinya, et al.
Publicado: (2020)

Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern
por: Liu, Haochen, et al.
Publicado: (2022)

rs929387 of GLI3 Is Involved in Tooth Agenesis in Chinese Han Population
por: Liu, Haochen, et al.
Publicado: (2013)

WNT10A variants isolated from Japanese patients with congenital tooth agenesis
por: Machida, Junichiro, et al.
Publicado: (2017)

Involvement of and Interaction between WNT10A and EDA Mutations in Tooth Agenesis Cases in the Chinese Population
por: He, Huiying, et al.
Publicado: (2013)

Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis
por: Shen, Wenjing, et al.
Publicado: (2016)

Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis
por: Chu, Kuan-Yu, et al.
Publicado: (2021)

KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects
por: Yu, Miao, et al.
Publicado: (2022)

The phenotypic characteristics of patients with athelia and tooth agenesis
por: Chen, Xiaoling, et al.
Publicado: (2021)

FGFR1 variants contributed to families with tooth agenesis
por: Yao, Siyue, et al.
Publicado: (2023)

Advances in tooth agenesis and tooth regeneration
por: Ravi, V., et al.
Publicado: (2023)

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis
por: Ockeloen, Charlotte W., et al.
Publicado: (2016)

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
por: Parveen, Asia, et al.
Publicado: (2019)

Genetic Variants of BMP2 and Their Association with the Risk of Non-Syndromic Tooth Agenesis
por: Lu, Yun, et al.
Publicado: (2016)

Tooth Agenesis Patterns in Orofacial Clefting Using Tooth Agenesis Code: A Meta-Analysis
por: Howe, Brian J., et al.
Publicado: (2022)

Screening PAX9, MSX1 and WNT10A Mutations in 4 Iranian Families with Non-Syndromic Tooth Agenesis
por: Safari, Shiva, et al.
Publicado: (2020)

Tooth agenesis patterns and variants in PAX9: A systematic review
por: Intarak, Narin, et al.
Publicado: (2023)

Genetic Variants in miRNAs Are Associated With Risk of Non-syndromic Tooth Agenesis
por: Gu, Min, et al.
Publicado: (2020)

Variable skeletal phenotypes associated with biallelic variants in PRKG2
por: Pagnamenta, Alistair T, et al.
Publicado: (2022)

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
por: Lin, Sheng-Jia, et al.
Publicado: (2023)

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
por: Jurkute, Neringa, et al.
Publicado: (2022)

Colorectal cancer and self-reported tooth agenesis
por: Lindor, Noralane M, et al.
Publicado: (2014)

A study of prevalence and distribution of tooth agenesis
por: Bozga, A, et al.
Publicado: (2014)

Association between Tooth Agenesis and Skeletal Malocclusions
por: Costa, Ana Maria Guerra, et al.
Publicado: (2017)

Effect of Tooth Agenesis on Mandibular Morphology and Position
por: Jurek, Agnieszka, et al.
Publicado: (2021)

Tooth agenesis: An overview of diagnosis, aetiology and management
por: Meade, Maurice J., et al.
Publicado: (2023)

Patterns of nonsyndromic tooth agenesis and sexual dimorphism
por: Kanchanasevee, Charinya, et al.
Publicado: (2023)

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia
por: Zemet, Roni, et al.
Publicado: (2023)

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis
por: Huang, Yan-xia, et al.
Publicado: (2021)

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
por: Blackburn, Patrick R., et al.
Publicado: (2020)

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
por: Bodenbender, Jan-Philipp, et al.
Publicado: (2023)

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype‐phenotype correlation analyses of TP63‐related disorders
por: Zheng, Jinglei, et al.
Publicado: (2019)

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing
por: Yue, Haitang, et al.
Publicado: (2022)

Effects of Wnt10a and Wnt10b Double Mutations on Tooth Development
por: Yoshinaga, Kaoru, et al.
Publicado: (2023)

Impacted Primary Tooth and Tooth Agenesis: A Case Report of Monozygotic Twins
por: Zengin, A. Zeynep, et al.
Publicado: (2008)

Genetics of tooth agenesis: how to move the field forward
por: VIEIRA, Alexandre R.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_kv6j5gcer8vdnecrgnba5923b4