SynthesisPloS one2013
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
Synthesis in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- The immunohistochemical profile of basal cell nevus syndrome-associated and sporadic odontogenic keratocysts: a systematic review and meta-analysis.Clinical oral investigations · 2021Pooled it
- Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.Molecular syndromology · 2024Article
- In Silico Analysis of Genes Associated with the Pathogenesis of Odontogenic Keratocyst.International journal of molecular sciences · 2024Article
- Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in theCurrent issues in molecular biology · 2023Article
- New insight into the role of PTCH1 protein in serous ovarian carcinomas.International journal of oncology · 2022Article
- Genomic disparities between cancers in adolescent and young adults and in older adults.Nature communications · 2022Article
- The clinicopathological features and treatments of odontogenic keratocysts.American journal of cancer research · 2022Article
- Identification of rareGenes & diseases · 2021Article
- Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.Scientific reports · 2021Article
- Intertwined Signaling Pathways Governing Tooth Development: A Give-and-Take Between Canonical Wnt and Shh.Frontiers in cell and developmental biology · 2021Review
- Gorlin Syndrome: Recent Advances in Genetic Testing and Molecular and Cellular Biological Research.International journal of molecular sciences · 2020Review
- Synchronous occurrence of odontogenic keratocyst and ameloblastoma: A case report and review of the literature.Clinics and practice · 2020Article
- Biallelic PTCH1 Inactivation Is a Dominant Genomic Change in Sporadic Keratocystic Odontogenic Tumors.The American journal of surgical pathology · 2020Article
- Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions.Clinical oral investigations · 2019Article
- Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report.Head & face medicine · 2019Article
- Effect of the sonic hedgehog inhibitor GDC-0449 on an in vitro isogenic cellular model simulating odontogenic keratocysts.International journal of oral science · 2019Article
- Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.Molecular genetics & genomic medicine · 2018Article
- Diagnosing the most common odontogenic cystic and osseous lesions of the jaws for the practicing pathologist.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2017Review
- Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).Head and neck pathology · 2016Review
- Transcriptome Variability in Keratocystic Odontogenic Tumor Suggests Distinct Molecular Subtypes.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe keratocystic odontogenic tumor (KCOT) is a locally aggressive cystic jaw lesion that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). PTCH1, the gene responsible for NBCCS, may play an important role in sporadic KCOTs. In this study, we analyzed and compared the distribution pattern of PTCH1 mutations in patients with sporadic and NBCCS-associated KCOTs.
methodsWe detected PTCH1 mutations in 14 patients with NBCCS-associated KCOTs and 29 patients with sporadic KCOTs by direct sequencing. In addition, five electronic databases were searched for studies detecting PTCH1 mutations in individuals with NBCCS-associated or sporadic KCOTs, published between January 1996 and June 2013 in English language.
resultsWe identified 15 mutations in 11 cases with NBCCS-associated KCOTs and 19 mutations in 13 cases with sporadic KCOTs. In addition, a total of 204 PTCH1 mutations (187 mutations from 210 cases with NBCCS-associated and 17 mutations from 57 cases with sporadic KCOTs) were compiled from 78 published papers.
conclusionsOur study indicates that mutations in transmembrane 2 (TM2) are closely related to the development of sporadic KCOTs. Moreover, for the early diagnosis of NBCCS, a genetic analysis of the PTCH1 gene should be included in the new diagnostic criteria.
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