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Genes (11)
Species:
human : 10 mouse : 1 | |
| Mouse | SHH | 6469 | sonic hedgehog | It is shown here that transgenic mice overexpressing SHH in the skin develop many features of basal cell nevus syndrome, demonstrating that SHH is sufficient to induce basal cell carcinomas in mice. | | Human | STK11 | 6794 | serine/threonine kinase 11 | The results indicate that (1) LOH at both PTCH gene and STK11 gene is relatively frequent in cellular fibromas; (2) approximately a quarter of luteinized thecomas exhibited LOH of the PTCH gene; in both neoplasms, cellular fibromas and luteinized thecomas, LOH may play a role in their pathogenesis; and (3) sporadic cellular fibromas may arise through similar genetic pathways as cases of Gorlin syndrome. | | Human | SMO | 6608 | smoothened, frizzled family receptor | mutations are rare in SMO in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors According to this model, the inhibition of SMO signaling is relieved after mutational inactivation of PTCH in the basal cell nevus syndrome. The Patched (PTC) gene is responsible for basal cell nevus syndrome (BCNS) accompanied by multiple odontogenic keratocysts (OKCs), and its product plays a role in the Sonic hedgehog (SHH) signaling pathway involving smoothened (SMO) and GLI-1. | | Human | SHH | 6469 | sonic hedgehog | In basal cell nevus syndrome (BCNS) patients, mutations of a gene, patched (ptc), which encodes a putative signal transducer of sonic hedgehog protein (SHH), were found and are thought to be one of the major causes of BCNS. The Patched (PTC) gene is responsible for basal cell nevus syndrome (BCNS) accompanied by multiple odontogenic keratocysts (OKCs), and its product plays a role in the Sonic hedgehog (SHH) signaling pathway involving smoothened (SMO) and GLI-1. Disorders of the sonic hedgehog signaling network are discussed next, including holoprosencephaly and the nevoid basal cell carcinoma syndrome, the former being caused by sonic hedgehog (SHH) mutations and the latter being caused by patched mutations (PTCH). AIM: To find genetic alterations in PTC or other genes of the Shh/PTCH pathway in tumorous and non- tumorous samples from three families and to correlate them with the varying expression of disorders in presented nevoid basal cell carcinoma syndrome (NBCCS) phenotypes. | | Human | RORA | 6095 | RAR-related orphan receptor A | Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). | | Human | PTPN3 | 5774 | protein tyrosine phosphatase, non-receptor type 3 | Interestingly, PTPH1 gene was mapped to 9q31 where the gene for Gorlin syndrome, a putative tumor suppressor gene, exists. | | Human | PTCH1 | 5727 | patched 1 | Germline mutations on PTCH can cause isolated odontogenic cyst, and this PTCH gene responsible for nevoid basal cell carcinoma syndrome plays an important role in the formation of odontogenic cyst analysis of missense mutations in the PTCH gene which may be responsible for Nevoid Basal Cell Carcinoma Syndrome A novel germ-line mutation of the PTCH1 gene in a Japanese family with nevoid basal cell carcinoma syndrome is reported thirteen novel mutations identified in the mutational screening of nevoid basal cell carcinoma syndrome patients in Italy Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X), the gene associated with Gorlin syndrome novel insertion mutation in exon 6 of the PTCH gene was identified in a Korean family with naevoid basal cell carcinoma syndrome Frequent germline PTCH mutations detected in this series provide further evidence for the crucial role of PTCH in the pathogenesis of nevoid basal cell carcinoma syndrome in Chinese Title:A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.|Association:Y|Conclusion:Not Found analysis of PTCH mutations in nevoid basal cell carcinoma syndrome [review] mutations are frequent in PTCH1 in sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumors A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome No phenotype-genotype relationships were found in the Japanese nevoid basal cell carcinoma syndrome patients | | Human | ROR2 | 4920 | receptor tyrosine kinase-like orphan receptor 2 | Mutations of the former cause the nevoid basal cell carcinoma syndrome (NBCCS) while mutations in the ROR2 gene have been found both in Robinow syndrome and in brachydactyly type 1B (BDB1). | | Human | GLI1 | 2735 | GLI family zinc finger 1 | The Patched (PTC) gene is responsible for basal cell nevus syndrome (BCNS) accompanied by multiple odontogenic keratocysts (OKCs), and its product plays a role in the Sonic hedgehog (SHH) signaling pathway involving smoothened (SMO) and GLI-1. | | Human | GAS1 | 2619 | growth arrest-specific 1 | The human growth-arrest-specific gene GAS1 maps outside the candidate region of the gene for nevoid basal cell carcinoma syndrome. The human growth-arrest specific gene GAS1 maps to chromosome bands 9q21.3-->q22, the region known to contain the tumour suppressor gene responsible for nevoid basal cell carcinoma syndrome (NBCCS). | | Human | EEC1 | 1913 | ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 | METHODS: Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. |
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