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Genes (12)
Species:
human : 12 | |
| Human | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Suggested as a candidate gene for a dominant syndrome that consists of inclusion body myopathy, Paget disease of bone, and dementia | | Human | SQSTM1 | 8878 | sequestosome 1 | Understanding how loss of ubiquitin-binding function of p62 impacts on signal transduction events in osteoclasts will further understanding Paget's disease of bone at the molecular level analysis of sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States causal role of SQSTM1 gene mutations in the pathogenesis of Paget's disease structure of the ubiquitin-associated domain of p62 (SQSTM1) and implications for mutations that cause Paget's disease of bone There is sound evidence incriminating Sequestosome 1 (SQSTM1) on the long arm of chromosome 5 (5q35-qter), of which nine mutations have been described in Paget's disease of bone mutations in the UBA domain of SQSTM1 (p62) have effects on binding sites and secondary structure and have a role in Paget's disease of bone [review] Title:Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).|Association:Not Found|Conclusion:Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone mutations affecting the ubiquitin-binding domain of SQSTM1 are a common cause of familial and sporadic Paget's disease of bone a founder effect may be responsible for teh SQSTM1 P392L mutation in Paget's disease of bone patients of British descent, irrespective of family history Expression on osteoclasts is not sufficient to induce the full paget disease but p62 mutations cause a predisposition to the development of Paget disease by increasing the sensitivity of osteoclast precursors to osteoclastogenic cytokines strong evidence for a founder effect of the P392L SQSTM1 mutation in Belgian, Dutch, and Spanish patients with Paget's Disease of Bone | | Human | TNFRSF11A | 8792 | tumor necrosis factor receptor superfamily, member 11a, NFKB activator | the 75dup27 mutation causes a Paget's disease of bone-like phenotype | | Human | TNFSF11 | 8600 | tumor necrosis factor (ligand) superfamily, member 11 | REVIEW: role of these molecules in immunology and skeletal remodelling and assess their involvement in diseases of bones and joints, including rheumatoid arthritis, Paget's disease, post-menopausal osteoporosis and malignant bone diseases | | Human | VDR | 7421 | vitamin D (1,25- dihydroxyvitamin D3) receptor | 3'VDR allelic variants and duration of biochemical response to the first treatment course are independent predictors of acquired resistance to clodronate treatment in patients with polyostotic Paget's disease of bone | | Human | VCP | 7415 | valosin containing protein | A patient with Inclusion body myopathy with Paget disease of bone and frontotemporal dementia carried a novel heterozygous base pair change, 47832C>T, in the VCP gene that resulted in substitution of an arginine residue by cysteine at position 93 (R93C) Frontotemporal dementia with inclusion body myopathy and Paget's disease of bone (IBMPFD) is a rare, autosomal dominant disorder caused by mutations in the gene valosin-containing protein (VCP) Mutations of the valosin-containing protein gene (VCP) at 9p13 cause inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia We identified a novel missense mutation in the VCP gene segregating with this disease in an Austrian family of four affected siblings, who exhibited progressive proximal myopathy and Paget disease of the bone Paget disease (in most patients) | | Human | TNFRSF11B | 4982 | tumor necrosis factor receptor superfamily, member 11b | REVIEW: role of these molecules in immunology and skeletal remodelling and assess their involvement in diseases of bones and joints, including rheumatoid arthritis, Paget's disease, post-menopausal osteoporosis and malignant bone diseases The deletion of aspartate 182 impairs both the secretion and activity of OPG, which in turn provides an explanation for the increased osteoclastogenesis and high bone turnover observed in Paget's disease patients with this mutation Title:Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin.|Association:Y|Conclusion:The G1181 allele was significantly over-represented in PDB patients (chi(2) = 5.7, df = 1, p = 0.017, adjusted alpha = 0.024), equivalent to an odds ratio for PDB of 1.55 (95% CI: 1.11-2.16). The distribution of TNFRSF11B haplotypes significantly differed in sporadic PDB cases and controls (chi(2) = 30.2, df = 9, p < 0.001) because of over-representation of haplotypes containing the G1181 allele in cases. The family study showed that the most common haplotype containing the G1181 allele was transmitted more frequently than expected to 140 individuals with familial PDB (chi(2) = 7.35, df = 1, p < 0.01), and the transmission disequilibrium was even more pronounced in a subgroup of 78 familial PDB patients who did not carry mutations of the SQSTM1 gene (chi(2) = 8.44, df = 1, p < 0.005). We conclude that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to the development of sporadic PDB and familial PDB that is not caused by SQSTM1 mutations. It is showed for the first time that single nucleotide polymorphisms influencing the risk to develop Paget's disease of bone could be sex-specific The G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to the development of sporadic Paget's disease of bone and familial PDB that is not caused by SQSTM1 mutations | | Human | IL1B | 3553 | interleukin 1, beta | Title:-511 C/T IL1B gene polymorphism is associated to resistance to bisphosphonates treatment in Paget disease of bone.|Association:Not Found|Conclusion:Our results suggest that the -511 CC genotype of the IL1B gene could be related to resistance to bisphosphonates in patients with PDB. | | Human | FASN | 2194 | fatty acid synthase | increased expression in 7 of 8 patients with invasive Paget's disease of the vulva (PDV), 3 of 4 patients with microinvasive PDV & 1 of 8 patients with noninvasive PDV; statistical analysis revealed increased expression was associated with invasive PDV | | Human | EDN1 | 1906 | endothelin 1 | ET-1 plasma levels may indicate Paget's disease activity | | Human | CDH1 | 999 | cadherin 1, type 1, E-cadherin (epithelial) | Reduced expression of E-cadherin may have a role to play in the pathogenesis of invasive Paget's disease of the vulva | | Human | CCND1 | 595 | cyclin D1 | Moderate amplification of the CCND1 gene in Paget's disease of breast |
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