Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies

Ceyhan, Derya; Kırzıoğlu, Zühal; Calapoğlu, Nilüfer Şahin

doi:10.4103/0975-962x.144717

Cited by 12 publications

(7 citation statements)

References 83 publications

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“…Evaluation of root shape of upper and lower incisors in this study demonstrated that individuals with third molar agenesis and those with agenesis of premolars or lateral incisors had different root morphology for upper and lower incisors from those individuals without tooth agenesis. These findings are at odds with those of a previous study where, after evaluation of root resorption of lateral incisors, there was no apparent association between root shape and genetic factors, even though the evaluation of root shape was not within the scope of the study 22 and considering that tooth agenesis has a genetic etiology [2][3][4] .…”

Section: Discussioncontrasting

confidence: 88%

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Association between agenesis and root morphology of anterior teeth

Borali

Menezes

Venezian

et al. 2019

Rev. odontol. UNESP

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Introduction Tooth agenesis is likely to affect the root teeth and should be considerated in orthodontic tratament. Objective The aim of this study was to assess the association between agenesis and root morphology of anterior teeth. Material and method The anterior teeth of 51 individuals were evaluated on 102 periapical radiographs and then divided into three groups: Group 1 (n=16) – no tooth agenesis; Group 2 (n=17) – only third molar agenesis; and Group 3 (n=18) – tooth agenesis of premolars or lateral incisors. Root morphology of anterior teeth was evaluated and the roots were classified as short, blunt, apically bent, and pipette-shaped. Fisher’s exact test was used to compare root shapes, the chi-square test was used to obtain the distribution of sexes between the groups, and ANOVA was performed to compare the ages between the groups. The significance level was set at 5% for all analyses. Result There was significant difference in root shapes (P<0.05) between the groups. Blunt roots were the most prevalent in all groups, but their rate was higher in Group 3 (83%). Conclusion There was association between agenesis and root morphology of anterior teeth.

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Section: Discussioncontrasting

confidence: 88%

“…Tooth agenesis is complex, and its heterogeneous characteristics are apparently associated with other dental changes 1 . The etiology of tooth agenesis involves mutations in certain genes such as MSX1 and PAX9, and genes such as WNT10A appear to play an important role in odontogenesis [2][3][4] .…”

Section: Introductionmentioning

confidence: 99%

Association between agenesis and root morphology of anterior teeth

Borali

Menezes

Venezian

et al. 2019

Rev. odontol. UNESP

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“…MSX1 interacts with β-catenin to inhibit the cell proliferation mediated by WNT signaling pathways (10). MSX1 mutation is involved in the congenital lack of teeth (tooth agenesis or hypodontia), limb deficiency, craniofacial bone morphogenesis and cleft lip, but few studies have examined its role in tumorigenesis (11)(12)(13)(14)(15)(16). Previous studies suggest that the deregulated expression of MSX1 is…”

Section: Introductionmentioning

confidence: 99%

Homeobox protein MSX1 inhibits the growth and metastasis of breast cancer cells and is frequently silenced by promoter methylation

Yue

Yuan

et al. 2018

Int J Mol Med

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Deregulation of msh homeobox 1 (MSX1) has been identified to be associated with multiple human malignant neoplasms. However, the association of the expression and biological function of MSX1 with breast tumorigenesis, and the underlying mechanism remain largely unknown. Therefore, the present study examined the expression and promoter methylation of MSX1 in breast tumor cell lines, primary breast tumors and normal breast tissues using semi-quantitative, quantitative and methylation-specific reverse transcription‑polymerase chain reaction. Colony formation assays, flow cytometric analysis, and wound healing and Transwell assays were used to assess various functions of MSX1. Western blot analyses were also conducted to explore the mechanism of MSX1. The results revealed that MSX1 was broadly expressed in normal human tissues, including breast tissues, but was frequently downregulated or silenced in breast cancer cell lines and primary tumors by promoter methylation. Methylation of the MSX1 promoter was observed in 7/9 (77.8%) breast cancer cell lines and 47/99 (47.5%) primary tumors, but not in normal breast tissues or surgical margin tissues, suggesting that tumor-specific methylation of MSX1 occurs in breast cancer. Pharmacological demethylation reduced MSX1 promoter methylation levels and restored the expression of MSX1. The ectopic expression of MSX1, induced by transfection with a lentiviral vector, significantly inhibited the clonogenicity, proliferation, migration and invasion of breast tumor cells by inducing G1/S cell cycle arrest and apoptosis. Ectopic MSX1 expression also inhibited the expression of active β-catenin and its downstream targets c-Myc and cyclin D1, and also increased the cleavage of caspase-3 and poly (ADP-ribose) polymerase. In conclusion, MSX1 exerts tumor-suppressive functions by inducing G1/S cell cycle arrest and apoptosis in breast tumorigenesis. Its methylation may be used as an epigenetic biomarker for the early detection and diagnosis of breast cancer.

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“…Mutations in the MSX1 gene produce specific oligodontia, which are of particular interest to second premolars and third molars [ 49 , 50 ]. Thus, the Arg31Pro mutation of the MSX1 gene was associated with second premolars agenesis, and the Ser105Stop mutation of the MSX1 gene was associated with premolar hypodontia and orofacial cleft [ 51 , 52 , 53 , 54 ].…”

Section: ⧉ Discussionmentioning

confidence: 99%

Research algorithm for the detection of genetic patterns and phenotypic variety of non-syndromic dental agenesis

Albu

Pavlovici

Imre³

et al. 2021

Rom J Morphol Embryol

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Introduction: Dental agenesis (DA), brings together the anodontia, oligodontia, hypodontia, characterized by a deficit in the development of a variable number of teeth. The objectives of the study were to illustrate the phenotypic variability of non-syndromic DA, to identify cases of DA with hereditary genetic transmission, and establish the mode of DA genetic pattern in these cases, together with the determination of DA prevalence in the population group study. Patients, Materials and Methods: The cross-sectional observational study was performed on a mixed population group, consisting of 861 Caucasian patients, between January 2018-December 2019. The clinical evaluation protocol of patients with DA, used to illustrate their phenotype, included the following stages: oral examination, photographic examination, and radiological examination. The evaluation protocol specific to the family genetic study of patients with DA, involved the following three stages: family survey, construction of the family tree and analysis of the pedigree structure. Results: The prevalence of DA in the population group was 2.78%. Regarding the phenotype, DA mainly affected the upper arch (50% of cases); bilateral DA had a significantly increased incidence (83.33% of cases) compared to unilateral form; in most cases (75%), a patient lacked one to two teeth, the lack of two teeth being the most common form (83.33% of cases); the upper lateral incisors were the teeth most frequently involved in DA (31.11% of the total missing teeth). Regarding the family genetic study, hereditary DA with autosomal dominant inheritance was present in 37.50% of cases. In the other cases (62.50%), isolated, sporadic forms of DA were registered, suggesting a spontaneous de novo mutation or a disorder of odontogenesis of a non-genetic nature. Conclusions: We consider that this study is of interest for current scientific research with applicability in dental medicine, by bringing actual information on the prevalence of non-syndromic DA in South-East Romania, the variety of phenotypic spectrum of DA for this geographic area, and the role of heredity in the DA genetic determinism in the studied population.

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Mutations in the MSX1 gene in Turkish children with non-syndromic tooth agenesis and other dental anomalies

Cited by 12 publications

References 83 publications

Association between agenesis and root morphology of anterior teeth

Association between agenesis and root morphology of anterior teeth

Homeobox protein MSX1 inhibits the growth and metastasis of breast cancer cells and is frequently silenced by promoter methylation

Research algorithm for the detection of genetic patterns and phenotypic variety of non-syndromic dental agenesis

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