| Identification of known and novel PTCH mutations in both syndromic and non-syndromic keratocystic odontogenic tumors. | |
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MedLine Citation:
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PMID: 20690502 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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AIM: To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors. METHODOLOGY: Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. RESULTS: Four novel and two known mutations were identified in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T). CONCLUSION: Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs. |
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Authors:
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Shuang Pan; Li-li Xu; Li-sha Sun; Tie-jun Li |
Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: International journal of oral science Volume: 1 ISSN: 1674-2818 ISO Abbreviation: Int J Oral Sci Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2010-08-09 Completed Date: 2010-09-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101504351 Medline TA: Int J Oral Sci Country: China |
Other Details:
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Languages: eng Pagination: 34-8 Citation Subset: D; IM |
Affiliation:
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Department of Oral Pathology, Peking University School and Hospital of Stomatology, Beijing, China. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Amino Acid Sequence Basal Cell Nevus Syndrome / genetics* Chromatography, High Pressure Liquid Codon, Nonsense / genetics Codon, Terminator / genetics Conserved Sequence / genetics Cytosine Exons / genetics Female Frameshift Mutation / genetics Gene Duplication Germ-Line Mutation / genetics Guanine Humans Male Middle Aged Mutation / genetics* Mutation, Missense / genetics Odontogenic Tumors / genetics* Receptors, Cell Surface / genetics* Reverse Transcriptase Polymerase Chain Reaction Sequence Deletion / genetics Syndrome Threonine / genetics Thymine |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/Codon, Terminator; 0/Receptors, Cell Surface; 0/patched receptors; 65-71-4/Thymine; 71-30-7/Cytosine; 72-19-5/Threonine; 73-40-5/Guanine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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