Tooth Agenesis: from Molecular Genetics to Molecular Dentistry

Matalová, Eva; Fleischmannová, Jana; Sharpe, Paul T.; Tucker, Abigail S.

doi:10.1177/154405910808700715

Cited by 190 publications

(162 citation statements)

References 71 publications

Supporting

Mentioning

142

Contrasting

Unclassified

Order By: Relevance

“…8 Individuals with ectodermal dysplasia showed similar features of hair and skin regardless of the dental status of their parents. Given the multiple causes, both genetic and non-genetic, for isolated tooth agenesis, 9 we decided to focus gene discovery on the syndromic phenotype of ectodermal dysplasia including oligodontia.…”

Section: Clinical Featuresmentioning

confidence: 99%

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

et al. 2016

View full text Add to dashboard Cite

Tooth development is controlled by the same processes that regulate formation of other ectodermal structures. Mutations in the genes underlying these processes may cause ectodermal dysplasia, including severe absence of primary or permanent teeth. Four consanguineous Palestinian families presented with oligodontia and hair and skin features of ectodermal dysplasia. Appearance of ectodermal dysplasia was consistent with autosomal recessive inheritance. Exome sequencing followed by genotyping of 56 informative relatives in the 4 families suggests that the phenotype is due to homozygosity for KREMEN1 p.F209S (c.626 T4C) on chromosome 22 at g.29,521,399 (hg19). The variant occurs in the highly conserved extracellular WSC domain of KREMEN1, which is known to be a high affinity receptor of Dickkopf-1, a component of the Dickkopf-Kremen-LRP6 complex, and a potent regulator of Wnt signaling. The Wnt signaling pathway is critical to development of ectodermal structures. Mutations in WNT10A, LRP6, EDA, and other genes in this pathway lead to tooth agenesis with or without other ectodermal anomalies. Our results implicate KREMEN1 for the first time in a human disorder and provide additional details on the role of the Wnt signaling in ectodermal and dental development.

show abstract

Section: Clinical Featuresmentioning

confidence: 99%

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

et al. 2016

View full text Add to dashboard Cite

show abstract

“…Beyond these genetic conditions, tooth loss can be caused by common dental diseases such as periodontitis and severe carious lesions, injuries, age-related alterations, and cancer (Marec-Berard et al, 2005;Matalova et al, 2008;Mitsiadis and Harada, 2015;Mitsiadis and Papagerakis, 2011). For example, in the case of oral squamous cell carcinomas, treatment involves radiotherapy, surgery and chemotherapy.…”

Section: Development and Pathology Of The Orofacial Complexmentioning

confidence: 99%

“…Oral cancers and their treatments often affect the structure and physiological function of more than one orofacial tissues and organs. In particular, radiotherapy and chemotherapy strongly affect salivary gland function, resulting in severe swallowing problems, dental caries and tooth loss (Cooper et al, 1995;Langendijk et al, 2008;Marec-Berard et al, 2005;Matalova et al, 2008; Minicucci et al, 2003).All these conditions mentioned above affect tooth functionality. Treatment options for patients with tooth agenesis, pathological tooth loss, AI, and other serious defects of dental tissues are based on a constantly increased number of dental biomaterials.…”

mentioning

confidence: 99%

“…In a strict sense, the definition of AI includes only enamel dysplasias, which occur in the absence of defects in other tissues, and can be phenotypically classified into three different types. The hypoplastic type of AI is characterised by a thinner layer of enamel, the hypomaturated form by a rather soft enamel, and the hypocalcified type by an extremely soft enamel that wears quickly after tooth eruption (Crawford et al, 2007).Beyond these genetic conditions, tooth loss can be caused by common dental diseases such as periodontitis and severe carious lesions, injuries, age-related alterations, and cancer (Marec-Berard et al, 2005;Matalova et al, 2008;Mitsiadis and Harada, 2015;Mitsiadis and Papagerakis, 2011). For example, in the case of oral squamous cell carcinomas, treatment involves radiotherapy, surgery and chemotherapy.…”

mentioning

confidence: 99%

See 1 more Smart Citation

Investigation of orofacial stem cell niches and their innervation through microfluidic devices

Pagella

Neto

Lamghari

et al. 2015

eCM

View full text Add to dashboard Cite

Stem cell-based mediated therapies represent very promising approaches for tissue regeneration and are already applied with success in clinics. These therapeutic approaches consist of the in vitro manipulation of stem cells and their consequent administration to patients as living and dynamic biological agents. Nevertheless, the deregulation of stem cells function might result in the generation of pathologies such as tumours or accelerated senescence. Moreover, different stem cells sources are needed for regeneration of specific tissues. It is thus fundamental to understand the mechanisms regulating the physiology of stem cells. Microfluidic technology can be used to mimic in vivo scenarios and allow the study of stem cell physiology at both single cell and whole stem cell niche levels. This review focuses on the potential sources of stem and progenitor cells for orofacial regeneration and the use of microfluidic technologies for the study of stem cells behaviour and stem cell niches, in the light of regenerative medicine. Keywords:Microfluidics, stem cells, stem cell niches, orofacial regeneration, tooth, innervation, trigeminal ganglia, regenerative medicine. IntroductionThe development of organs and tissues that belong to the orofacial complex proceeds through a series of inductive interactions between cells originated from the epithelium, mesoderm and cranial neural crest-derived mesenchyme (Mao et al., 2012;Mitsiadis and Graf, 2009;Mitsiadis and Papagerakis, 2011). Orofacial organs are highly diverse and exert fundamental and specific functions such as breathing, chewing, speech, smell, and sight (Mao et al., 2012). The physiological functions of these organs are compromised by traumatic injuries, congenital and infectious diseases, and cancer (Mao et al., 2012;Scheller et al., 2009). Furthermore, these pathologies are often accompanied by intensive pain and aesthetic deformities. Therefore, the treatment of compromised pathological orofacial tissues and organs should guarantee restoration of both functionality and aesthetics, which constitutes an enormous clinical challenge. Moreover, organ structure, function, aesthetics, and pain should be managed simultaneously during the regenerative care, a situation that is more complex than in other compartments of the body (Scheller et al., 2009).Biological regeneration is proving an increasingly attractive alternative and complement to traditional surgical techniques for prosthetic replacement of tissues and organs. Cell-based therapeutic approaches are already applied with success in clinics and consist of in vitro manipulation of stem cells and their consequent administration to patients as living and dynamic biological agents. Stem cells are characterised by their potential to self-replicate and their capacity to differentiate into a vast variety of cell types that form the diverse tissues. Therefore, stem cells guarantee tissue repair and regeneration throughout life. During the last decades, a plethora of adult stem cell populations have been isolate...

show abstract

“…Analisando dessa forma, teoricamente alterações nos genes envolvidos na sinalização inicial para a formação dentária seriam candidatos em potencial para influenciar a ocorrência de tal anomalia. (THESLEFF, 2006) Os estudos genéticos com modelos animais têm mostrado um grande número de genes candidatos para a agenesia dentária, mas, até o momento, mutações em somente três desses genes, o MSX1, o PAX9 e o AXIN2, têm sido identificadas em famílias com hipodontia ou oligodontia (STOCKTON et al, 2000;DAS et al, 2002;ZHAO et al, 2005;PERES et al, 2005;MUES;D'SOUZA, 2006;LAMMI et al, 2006;COBOURNE, 2007;HU;SIMMER, 2007;MATALOVA et al, 2008). De acordo com Cobourne (2007), esses achados sugerem que essa característica de agenesia dentária pode representar uma condição com uma etiologia multifatorial mais complexa, influenciada pela combinação da função do gene, interação ambiental e período do desenvolvimento.…”

Section: T T E E R R a A T T U U R R A Aunclassified

Triagem de mutação no éxon 3 do gene IRF6 em indivíduos com fissura labiopalatina e agenesia dentária: padronização de protocolo para seqüenciamento de DNA genômico a partir de saliva

Neves¹

View full text Add to dashboard Cite

Tooth Agenesis: from Molecular Genetics to Molecular Dentistry

Cited by 190 publications

References 71 publications

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

Investigation of orofacial stem cell niches and their innervation through microfluidic devices

Triagem de mutação no éxon 3 do gene IRF6 em indivíduos com fissura labiopalatina e agenesia dentária: padronização de protocolo para seqüenciamento de DNA genômico a partir de saliva

Contact Info

Product

Resources

About