PTC gene mutations and expression of SHH, PTC, SMO, and GLI-1 in odontogenic keratocysts

Ohki, Kohji; Kumamoto, Hiroyuki; Ichinohasama, Ryo; Sato, Takahiro; Takahashi, Nobuyuki; Ooya, Kiyoshi

doi:10.1016/j.ijom.2004.01.013

Cited by 75 publications

(67 citation statements)

References 39 publications

(49 reference statements)

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“…These ontogenetic networks function in cell fate specification and are widely conserved across phyla. Deregulated hedgehog signaling is a hallmark of basal cell carcinomas of the skin (Ruiz i Altaba et al, 2002) and odontogenic keratocysts in the oral cavity (Ohki et al, 2004), both of which are phenotypically distinct from SCC. On the other hand, notch signaling promotes differentiation in skin (Lefort and Dotto, 2004) and loss of function of notch is permissive for tumor formation in mouse models (Nicolas et al, 2003).…”

Section: Resultsmentioning

confidence: 99%

Rare amplicons implicate frequent deregulation of cell fate specification pathways in oral squamous cell carcinoma

et al. 2005

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Section: Resultsmentioning

confidence: 99%

Rare amplicons implicate frequent deregulation of cell fate specification pathways in oral squamous cell carcinoma

et al. 2005

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“…However, the original references on mutations were all on syndromic patients and the 6 WHO references on non-syndromic cases included syndromic patients. There were numerous subsequent papers dealing with PTCH mutations in syndromic and nonsyndromic OKCs, which have shown mutations in approximately 85 % of syndromic cases and 30 % of non-syndromic cases [26][27][28][29][30][31][32].…”

Section: The Cyst/neoplasm Interfacementioning

confidence: 99%

Odontogenic Tumors, WHO 2005: Where Do We Go from Here?

Wright

Odell

Speight

et al. 2014

Head and Neck Pathol

104

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“…Although PTCH1 deficiency has been described in the epithelial lining of human odontogenic keratocysts, 39 -41 and this genetic alteration would be expected to lead to constitutive Hh pathway activity, there are conflicting reports regarding the status of Hh signaling in these lesions. [42][43][44] In this report, we characterize odontogenic keratocysts that develop in transgenic mice overexpressing Gli2 under the control of the keratin 5 (K5) promoter and compare them to human keratocysts. The mouse keratocysts exhibit many of the same gross, microscopic, biochemical, and molecular features that are seen in odontogenic keratocysts arising in humans, which include deregulated activation of the Hh pathway in epithelial cells comprising the cyst wall.…”

mentioning

confidence: 99%

Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans

Grachtchouk

Liu

Wang

et al. 2006

The American Journal of Pathology

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Odontogenic keratocysts in humans are aggressive, noninflammatory jaw cysts that may harbor PTCH1 mutations, leading to constitutive activity of the embryonic Hedgehog (Hh) signaling pathway. We show here that epithelial expression of the Hh transcriptional effector Gli2 is sufficient for highly penetrant keratocyst development in transgenic mice. Mouse and human keratocysts expressed similar markers, leading to tooth misalignment, bone remodeling, and craniofacial abnormalities. We detected Hh target gene expression in epithelial cells lining keratocysts from both species, implicating deregulated Hh signaling in their development. Most mouse keratocysts arose from rests of Malassez-quiescent, residual embryonic epithelial cells that remain embedded in the periodontal ligament surrounding mature teeth. In Gli2-expressing mice, these rests were stimulated to proliferate, stratify, and form a differentiated squamous epithelium. The frequent development of keratocysts in Gli2-expressing mice supports the idea that GLI transcription factor activity mediates pathological responses to deregulated Hh signaling in humans. Moreover, Gli2-mediated reactivation of quiescent epithelial rests to form keratocysts indicates that these cells retain the capacity to function as progenitor cells on activation by an appropriate developmental signal.

show abstract

PTC gene mutations and expression of SHH, PTC, SMO, and GLI-1 in odontogenic keratocysts

Cited by 75 publications

References 39 publications

Rare amplicons implicate frequent deregulation of cell fate specification pathways in oral squamous cell carcinoma

Rare amplicons implicate frequent deregulation of cell fate specification pathways in oral squamous cell carcinoma

Odontogenic Tumors, WHO 2005: Where Do We Go from Here?

Odontogenic Keratocysts Arise from Quiescent Epithelial Rests and Are Associated with Deregulated Hedgehog Signaling in Mice and Humans

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