Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2045
Abstract: Tooth agenesis (TA) is a congenital abnormality that may present as syndromic or nonsyndromic. Considering its complex genetic aetiology, the aim of this study was to uncover the pathogenic mutants in patients with nonsyndromic TA… read more here.
Keywords: patients nonsyndromic; mutation analysis; analysis patients; nonsyndromic tooth ... See more keywords
Association of tooth agenesis with dental anomalies in young subjects
Sign Up to like & getrecommendations! Published in 2020 at "Oral and Maxillofacial Surgery"
DOI: 10.1007/s10006-020-00879-y
Abstract: Aim The aim of the current study is to correlate the presence of tooth agenesis with other dental anomalies in 7- to 15-year-old patients. Materials and methods After evaluating 4000 panoramic radiographs of young subjects,… read more here.
Keywords: agenesis; agenesis dental; tooth agenesis; dental anomalies ... See more keywords
Patterns of non-syndromic permanent tooth agenesis in a large orthodontic population.
Sign Up to like & getrecommendations! Published in 2017 at "Archives of oral biology"
DOI: 10.1016/j.archoralbio.2017.02.020
Abstract: OBJECTIVE The aim of this study is to explore patterns of non-syndromic permanent tooth agenesis in a large orthodontic patient group. DESIGN A record review was performed in various orthodontic clinics to identify white patients… read more here.
Keywords: agenesis; tooth agenesis; permanent tooth; syndromic permanent ... See more keywords
Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans.
Sign Up to like & getrecommendations! Published in 2019 at "Archives of oral biology"
DOI: 10.1016/j.archoralbio.2019.05.008
Abstract: OBJECTIVE The present cross-sectional, multi-centre, genetic study aimed to determine, whether single nucleotide polymorphisms (SNPs) in tooth agenesis (TA)-associated GLI2 and GLI3 genes contribute to the development of craniofacial skeletal morphology in humans. DESIGN Orthodontic… read more here.
Keywords: tooth agenesis; gli3 genes; gli2 gli3; gli3 ... See more keywords
BMP4 mutations in tooth agenesis and low bone mass.
Sign Up to like & getrecommendations! Published in 2019 at "Archives of oral biology"
DOI: 10.1016/j.archoralbio.2019.05.012
Abstract: OBJECTIVE To identify an uncommon genetic cause of tooth agenesis (TA) by utilizing whole exome sequencing (WES) and targeted Sanger sequencing in a cohort of 120 patients with isolated TA. DESIGN One deleterious mutation in… read more here.
Keywords: tooth agenesis; mutations tooth; bmp4; bmp4 mutations ... See more keywords
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14183
Abstract: WNT/β‐catenin and BMP signaling pathways play important roles in the process of tooth development. Dysregulation of WNT/β‐catenin and BMP signaling is implicated in a number of human malformations, including dental anomalies. Whole exome and Sanger… read more here.
Keywords: oral exostoses; agenesis; dental anomalies; mutations lrp5 ... See more keywords
Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14225
Abstract: Tooth agenesis is a high genetic heterogeneous disorder with more than 80 genes identified as associated molecular causes. The present study aimed to detect the possible pathogenic variants in a cohort of well‐characterized probands with… read more here.
Keywords: exome sequencing; agenesis; whole exome; tooth agenesis ... See more keywords
PAX9 mutations and genetic synergism in familial tooth agenesis.
Sign Up to like & getrecommendations! Published in 2023 at "Annals of the New York Academy of Sciences"
DOI: 10.1111/nyas.14988
Abstract: Familial tooth agenesis (FTA) is one of the most common craniofacial anomalies in humans. Loss-of-function mutations in PAX9 and WNT10A have been known to cause FTA with various expressivity. In this study, we identified five… read more here.
Keywords: genetic synergism; pax9; familial tooth; agenesis pax9 ... See more keywords
Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.
Sign Up to like & getrecommendations! Published in 2019 at "Oral diseases"
DOI: 10.1111/odi.13196
Abstract: OBJECTIVES To investigate the mutations in Axenfeld-Rieger syndrome (ARS) patients and the pattern of PITX2-related tooth agenesis. METHODS Whole-exome sequencing (WES) and copy number variations (CNV) array were used to screen the mutations in four… read more here.
Keywords: agenesis; pitx2 related; tooth agenesis; related tooth ... See more keywords
Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis.
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DOI: 10.1111/odi.14402
Abstract: OBJECTIVES This study aims to review the pathogenic mechanisms and clinical manifestations in syndromes with tooth agenesis (TA). METHODS Online Mendelian Inheritance in Man (OMIM) and PubMed databases were searched for a comprehensive review. RESULTS… read more here.
Keywords: gene mutations; tooth agenesis; mutations chromosomal; syndromes tooth ... See more keywords
Rare and Common Variants Conferring Risk of Tooth Agenesis
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Dental Research"
DOI: 10.1177/0022034517750109
Abstract: We present association results from a large genome-wide association study of tooth agenesis (TA) as well as selective TA, including 1,944 subjects with congenitally missing teeth, excluding third molars, and 338,554 controls, all of European… read more here.
Keywords: tooth agenesis; risk; common variants; conferring risk ... See more keywords