Beiträge zur Kenntnis seltener Mißbildungen der Iris

Rieger, H.

doi:10.1007/bf01853793

Cited by 104 publications

(10 citation statements)

References 13 publications

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“…6). Mutation of the human PITX2 gene results in Rieger's syndrome, an autosomal dominant disorder, that leads to the absence of certain teeth and defects of the eye (Rieger, 1935;Semina et al, 1996). Loss of Pitx2 results in retarded tooth development at the initiation/early bud stage, clearly demonstrating the important function of Pitx2 gene in regulating tooth development (Lu et al, 1999).…”

Section: Control Of Signaling Level and Tooth Developmentmentioning

confidence: 99%

Recent advances in craniofacial morphogenesis

Chai

Maxson

2006

Developmental Dynamics

536

503

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Craniofacial malformations are involved in three fourths of all congenital birth defects in humans, affecting the development of head, face, or neck. Tremendous progress in the study of craniofacial development has been made that places this field at the forefront of biomedical research. A concerted effort among evolutionary and developmental biologists, human geneticists, and tissue engineers has revealed important information on the molecular mechanisms that are crucial for the patterning and formation of craniofacial structures. Here, we highlight recent advances in our understanding of evo-devo as it relates to craniofacial morphogenesis, fate determination of cranial neural crest cells, and specific signaling pathways in regulating tissue-tissue interactions during patterning of craniofacial apparatus and the morphogenesis of tooth, mandible, and palate. Together, these findings will be beneficial for the understanding, treatment, and prevention of human congenital malformations and establish the foundation for craniofacial tissue regeneration. Developmental Dynamics 235:2353-2375, 2006.

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Section: Control Of Signaling Level and Tooth Developmentmentioning

confidence: 99%

Recent advances in craniofacial morphogenesis

Chai

Maxson

2006

Developmental Dynamics

536

503

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“…ARS comprises a group of autosomal dominant clinical disorders affecting anterior eye structures derived from constituents of the embryonic neural crest (14). Classic ocular features of ARS include iridocorneal synechiae, iris hypoplasia, corectopia, polycoria, and/or prominent Schwalbe line (15,16). Malformation of the anterior angle between iris and cornea can lead to elevated intraocular pressure and subsequent glaucomatous condition.…”

Section: Pituitary Homeobox Transcription Factor 2 (Pitx2)mentioning

confidence: 99%

Human PRKC Apoptosis WT1 Regulator Is a Novel PITX2-interacting Protein That Regulates PITX2 Transcriptional Activity in Ocular Cells

Acharya

Lingenfelter

Huang

et al. 2009

Journal of Biological Chemistry

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Mutations in the homeobox transcription factor PITX2 result in Axenfeld-Rieger syndrome (ARS), which is associated with anterior segment dysgenesis and an increased risk of glaucoma. To understand the pathogenesis of the defects resulting from PITX2 mutations, it is essential to know the normal functions of PITX2 and its interaction with the network of proteins in the eye. Yeast two-hybrid screening was performed using a cDNA library from a human trabecular meshwork primary cell line to detect novel PITX2-interacting proteins and study their role in ARS pathogenesis. After screening of ϳ1 ؋ 10 6 clones, one putative interacting protein was identified named PRKC apoptosis WT1 regulator (PAWR). This interaction was further confirmed by retransformation assay in yeast cells as well as co-immunoprecipitation in ocular cells and nickel pulldown assay in vitro. PAWR is reportedly a proapoptotic protein capable of selectively inducing apoptosis primarily in cancer cells. Our analysis indicates that the homeodomain and the adjacent inhibitory domain in PITX2 interact with the C-terminal leucine zipper domain of PAWR. Endogenous PAWR and PITX2 were found to be located in the nucleus of ocular cells and to co-localize in the mesenchyme of the iridocorneal angle of the developing mouse eye, consistent with a role in the development of the anterior segment of the eye. PAWR was also found to inhibit PITX2 transcriptional activity in ocular cells. These data suggest PAWR is a novel PITX2-interacting protein that regulates PITX2 activity in ocular cells. This information sheds new light in understanding ARS and associated glaucoma pathogenesis. Pituitary homeobox transcription factor 2 (PITX2)2 is a member of the paired-bicoid family of homeodomain (HD) transcription factors. Members of pituitary homeobox proteins are actively involved in a wide range of developmental processes including formation of pituitary gland and hind limb and of anterior segment of the eye as well as brain morphogenesis (1-3). Expression of PITX2 is found during ocular development (4, 5). The PITX2 gene is represented by several different splicing and transcriptional isoforms. The four best characterized are PITX2A, -B, -C (5), and -D (6) These isoforms of PITX2 vary in their N termini but share common HD and C-terminal sequences. The PITX2D isoform, however, has a truncated and non-functional HD (7). These alternate transcripts (A, B, and C) encode 271, 317, and 324 amino acids, respectively (4, 8).Numerous pathologic PITX2 mutations including missense variations, splice site alterations, and insertions/deletions have been described, producing a continuum of clinical phenotypes including Axenfeld-Rieger syndrome (ARS), iridogoniodysgenesis, and iris hypoplasia (5, 9, 10), as well as rarer cases of a Peters-like anomaly (11). Of these, ϳ82% of PITX2 mutations were observed in ARS, ϳ7% were observed both in iridogoniodysgenesis and in iris hypoplasia, and less than 3% were observed in Peters-like anomaly (Human Gene Mutation Database (HGMD)). ARS itself...

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“…Pitx2, in particular, is restricted to dental epithelium throughout tooth morphogenesis. Mutation of the human Pitx2 gene results in Rieger's syndrome, an autosomal dominant disorder, which is manifested by missing certain teeth and defect of the eye (Rieger 1935;Semina et al, 1996). Consider the following question.…”

Section: Initiation Of Tooth Developmentmentioning

confidence: 99%

Prospects for tooth regeneration in the 21st century: A perspective

Chai

Slavkin

2003

Microscopy Res & Technique

115

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The prospects for tooth regeneration in the 21st century are compelling. Using the foundations of experimental embryology, developmental and molecular biology, the principles of biomimetics (the mimicking of biological processes), tooth regeneration is becoming a realistic possibility within the next few decades. The cellular, molecular, and developmental "rules" for tooth morphogenesis are rapidly being discovered. The knowledge gained from adult stem cell biology, especially associated with dentin, cartilage, and bone tissue regeneration, provides additional opportunities for eventual tooth organogenesis. The centuries of tooth development using xenotransplantation, allotransplantation, and autotransplantation have resulted in many important insights that can enhance tooth regeneration. In considering the future, several lines of evidence need to be considered: (1) enamel organ epithelia and dental papilla mesenchyme tissues contain stem cells during postnatal stages of life; (2) late cap stage and bell stage tooth organs contain stem cells; (3) odontogenic adult stem cells respond to mechanical as well as chemical "signals"; (4) presumably adult bone marrow as well as dental pulp tissues contain "odontogenic" stem cells; and (5) epithelial-mesenchymal interactions are pre-requisite for tooth regeneration. The authors express "guarded enthusiasm," yet there should be little doubt that adult stem cell-mediated tooth regeneration will be realized in the not too distant future. The prospects for tooth regeneration could be realized in the next few decades and could be rapidly utilized to improve the quality of human life in many nations around the world.

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Beiträge zur Kenntnis seltener Mißbildungen der Iris

Cited by 104 publications

References 13 publications

Recent advances in craniofacial morphogenesis

Recent advances in craniofacial morphogenesis

Human PRKC Apoptosis WT1 Regulator Is a Novel PITX2-interacting Protein That Regulates PITX2 Transcriptional Activity in Ocular Cells

Prospects for tooth regeneration in the 21st century: A perspective

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