Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition

Cobourne, Martyn T.; Sharpe, Paul T.

doi:10.1002/wdev.66

Cited by 80 publications

(78 citation statements)

References 237 publications

(285 reference statements)

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“…It may occur as part of a recognised genetic syndrome or as a nonsyndromic isolated trait [2]. The condition refers to the developmental failure of six or fewer teeth [3].…”

Section: Definitions and Classificationsmentioning

confidence: 99%

“…Heterozygous mutations in PAX9, in humans, have been associated with nonsyndromic tooth agenesis [2]. Most recently, a case-control study of 306 unrelated Portuguese individuals found that single nucleotide polymorphisms in the PAX9 gene were associated with a high risk of maxillary lateral incisor agenesis [56].…”

Section: Aetiologymentioning

confidence: 99%

“…MSX1 gene mutations have been associated with premature termination of tooth development in animals [2, 21] and severe forms of hypodontia in humans. Recently, however, a frameshift mutation in MSX1 has been identified in a family missing all second premolars and mandibular central incisors [62].…”

Section: Aetiologymentioning

confidence: 99%

See 2 more Smart Citations

Hypodontia: An Update on Its Etiology, Classification, and Clinical Management

Al-Ani

Antoun

Thomson

et al. 2017

BioMed Research International

181

165

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Hypodontia, or tooth agenesis, is the most prevalent craniofacial malformation in humans. It may occur as part of a recognised genetic syndrome or as a nonsyndromic isolated trait. Excluding third molars, the reported prevalence of hypodontia ranges from 1.6 to 6.9%, depending on the population studied. Most affected individuals lack only one or two teeth, with permanent second premolars and upper lateral incisors the most likely to be missing. Both environmental and genetic factors are involved in the aetiology of hypodontia, with the latter playing a more significant role. Hypodontia individuals often present a significant clinical challenge for orthodontists because, in a number of cases, the treatment time is prolonged and the treatment outcome may be compromised. Hence, the identification of genetic and environmental factors may be particularly useful in the early prediction of this condition and the development of prevention strategies and novel treatments in the future.

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“…It may occur as part of a recognised genetic syndrome or as a nonsyndromic isolated trait [2]. The condition refers to the developmental failure of six or fewer teeth [3].…”

Section: Definitions and Classificationsmentioning

confidence: 99%

Section: Aetiologymentioning

confidence: 99%

See 1 more Smart Citation

Hypodontia: An Update on Its Etiology, Classification, and Clinical Management

Al-Ani

Antoun

Thomson

et al. 2017

BioMed Research International

181

165

View full text Add to dashboard Cite

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“…Tooth formation is dependent on, and controlled by, the activity of a limited number of conserved secreted signaling proteins (and their downstream pathways), including the TGF-b superfamily, FGFs, Hedgehog, and WNT, 49,3 all of which are commonly exploited in developmental processes during embryogenesis. 50 Certain family members have been shown to mediate reciprocal tissue interactions, and to control the expression of various signals and transcription factors essential for tooth formation.…”

Section: Sema3a As a Link Integrating Organogenesis And Innervationmentioning

confidence: 99%

Integration of tooth morphogenesis and innervation by local tissue interactions, signaling networks, and semaphorin 3A

Luukko

Kettunen

2016

Cell Adhesion & Migration

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The tooth, like many other organs, develops from both epithelial and mesenchymal tissues, and has proven to be a valuable tool with which to investigate organ formation and peripheral innervation. Tooth formation is regulated by local epithelial-mesenchymal tissue interactions, and is closely integrated with stereotypic dental nerve navigation and patterning. Recent analyses of the function and regulation of semaphorin 3A (SEMA3A) have shed light on the regulatory mechanisms that coordinate organogenesis and innervation at the tissue and molecular levels. In the tooth, SEM3A acts as a developmentally regulated secretory chemo-repellent, that controls tooth innervation during embryonic and postnatal development. The tooth germ governs its own innervation by a combination of local tissue interactions and SEMA3A expression. SEMA3A signaling, in turn, is controlled by a number of conserved signaling effectors, including TGF-b superfamily members, FGF, and WNT; all function in embryo and organ development, and are essential for tooth histo-morphogenesis. Thus, SEMA3A driven axon guidance is integrated into key odontogenic signaling networks, establishing this protein as a critical molecular tether between 2 distinct developmental processes (morphogenesis and sensory innervation), both of which are required to obtain a functional tooth.

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“…Localised ankylosis between the root and alveolar bone could be one explanation for failure of eruption prior to, during or after complete emergence. 4,5 Estimates of the prevalence of infraocclusion in the primary dentition have ranged between 1.3% and 38.5%. [6][7][8][9] This wide range of variation may be related to differences in study sample sizes, age groups, diagnostic methods and inclusion/exclusion criteria.…”

mentioning

confidence: 99%