Gotowe bibliografie tematyczne / Paget's disease of bone

Gotowa bibliografia na temat „Paget's disease of bone”

Autor: Grafiati
Data publikacji: 4 czerwca 2021
Data aktualizacji: 14 marca 2023

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Artykuły w czasopismach na temat "Paget's disease of bone"

1

Merkow, Robert L., i Joseph M. Lane. "Paget's Disease of Bone". Orthopedic Clinics of North America 21, nr 1 (styczeń 1990): 171–89. http://dx.doi.org/10.1016/s0030-5898(20)31574-1.

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Walsh, John P. "Paget's disease of bone". Medical Journal of Australia 181, nr 5 (wrzesień 2004): 262–65. http://dx.doi.org/10.5694/j.1326-5377.2004.tb06265.x.

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Tran, Huy A. "Paget's disease of bone". Medical Journal of Australia 182, nr 3 (luty 2005): 138–39. http://dx.doi.org/10.5694/j.1326-5377.2005.tb06622.x.

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Griz, Luiz, Gustavo Caldas, Cristina Bandeira, Viviane Assunção i Francisco Bandeira. "Paget's disease of bone". Arquivos Brasileiros de Endocrinologia & Metabologia 50, nr 4 (sierpień 2006): 814–22. http://dx.doi.org/10.1590/s0004-27302006000400026.

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Paget's disease of bone is a focal disorder of bone remodeling accompanied initially by an increase in bone resorption, followed by a disorganized and excessive formation of bone, leading to pain, fractures and deformities. It exhibits a marked geographical variation in its prevalence. In Brazil it predominantly affects persons of European descent. The majority of the reported cases of the disease in Brazil are from Recife, owing to its peculiar mixed European colonization over approximately four centuries. The etiology is complex and involves both genetic and environmental factors. The disease is often asymptomatic and diagnosis is usually based on biochemical markers of bone turnover, radionuclide bone scan and radiological examination. Bisphosphonates, in particular zoledronic acid, are regarded as the treatment of choice for Paget's disease of bone.
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Tan, A., i S. H. Ralston. "Paget's disease of bone". QJM 107, nr 11 (21.04.2014): 865–69. http://dx.doi.org/10.1093/qjmed/hcu075.

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Whyte, Michael P. "Paget's Disease of Bone". New England Journal of Medicine 355, nr 6 (10.08.2006): 593–600. http://dx.doi.org/10.1056/nejmcp060278.

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Ralston, Stuart H. "Paget's Disease of Bone". New England Journal of Medicine 368, nr 7 (14.02.2013): 644–50. http://dx.doi.org/10.1056/nejmcp1204713.

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Wand, J. S., i P. A. N. Hutton. "Paget's Disease of Bone". Journal of the Royal Society of Medicine 83, nr 3 (marzec 1990): 198–99. http://dx.doi.org/10.1177/014107689008300334.

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Smith, R. "Paget's disease of bone." BMJ 305, nr 6866 (5.12.1992): 1379–80. http://dx.doi.org/10.1136/bmj.305.6866.1379.

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Ralston, S. H. "Paget's disease of bone." BMJ 306, nr 6873 (30.01.1993): 332–33. http://dx.doi.org/10.1136/bmj.306.6873.332-c.

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Rozprawy doktorskie na temat "Paget's disease of bone"

1

Lucas, Gavin J. A. "Genetics of Paget's disease of bone". Thesis, University of Aberdeen, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.430978.

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Chapter 3 describes the results of mutation screening of a candidate gene, SQSTM1, from one of the linkage regions implicated in the pathogenesis of PDB in families of mainly British descent.  Seven mutations that segregated with the disease were identified and all clustered in the ubiquitin-associated (UBA) domain of the protein. In Chapter 4, an association study and haplotype analysis was conducted in PDB families using SNPs in SQSTM1.  This revealed that the most common SQSTM1 mutation was predominantly carried on one of two common haplotype backgrounds, suggesting that a strong founder effect exists in this population.  The P392L mutations occurred on the same haplotype background in sporadic cases as in the PDB families, indicating that many ‘sporadic’ PDB cases may have occult familial PDB. A syndrome of PDB associated with inclusion body myopathy and dementia has recently been shown to be caused by mutations that cluster in the CDC48 domain of the VCP gene.  In Chapter 5, the VCP gene was screened for mutations in familial PDB and an association study was conducted in patients with sporadic PDB.  No mutations in this gene were found in the PDB families.  Haplotype analysis of a region spanning this gene also failed to support the involvement of polymorphisms in this gene in determining risk of sporadic PDB. In Chapter 6, genome-wide linkage analysis was conducted in PDB families without SQSTM1 mutations.  This revealed significant evidence of linkage at a locus on chromosome 10p13 (PDB6).  All families involved in this analysis were found to have a high likelihood of linkage at this locus.
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2

Hocking, Lynne J. "Genetics of Paget's disease of bone". Thesis, University of Aberdeen, 2002. http://digitool.abdn.ac.uk/R?func=search-advanced-go&find_code1=WSN&request1=AAIU160239.

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In Chapter 4, I investigated the roles of the RANK signalling partners RANK ligand (RANKL) and osteoprotegerin (OPG) in the pathogenesis of sporadic and familial PDB. One polymorphism in the RANK gene and five polymorphisms in the OPG gene were examined in sporadic PDB cases and in sex- and age-matched controls. No allele-disease or genotype-disease association was observed for the RANKL polymorphism, suggesting RANKL is not directly involved in susceptibility to sporadic PDB. Genotypes at two OPG polymorphisms did significantly predict disease status in individuals affected with sporadic PDB, suggesting a role for OPG in the pathogenesis of sporadic PDB. The five OPG polymorphisms were also examined in families affected with PDB. No evidence was found to either suggest or exclude the involvement of any of the OPG polymorphisms in familial PDB. In Chapter 5, I performed a genome-wide search for PDB susceptibility loci in families with inherited PDB. Three regions of potential linkage were identified at 2q36, 5q35 and 10p11. Fine mapping was performed for the candidate region on chromosome 5q35, and eight families with a high probability of linkage to 5q35 were identified. In seven of the families, a shared haplotype transmitted only with affected family members was present. The shared haplotype varied between families and no common allele existed in the seven families for any of the nine markers studied. However, one area of shared haplotype occurred in all seven families across three of the markers, supporting evidence for a susceptibility gene for PDB on 5q35 in these families and narrowing the candidate region. In summary, this study has further highlighted the importance of genetic heterogeneity in the pathogenesis of PDB, excluding the previously identified PDB2 susceptibility locus and identifying three novel regions potentially harbouring susceptibility loci in the families studied. This study has also further defined the role of members of the RANK signalling pathway in the pathogenesis of familial and sporadic PDB.
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3

Good, David Andrew, i n/a. "Genetic Loci for Paget's Disease of Bone". Griffith University. School of Biomolecular and Biomedical Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040319.125358.

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Paget's disease of the bone is a skeletal disorder of unknown cause. This disease is characterised by excessive and abnormal bone remodelling brought about by increased bone resorption followed by disorganised bone formation. Increased bone turnover results in a disorganised mosaic of woven and lamellar bone at affected skeletal sites. This produces bone that is expanded in size, less compact, more vascular, and more susceptible to deformity or fracture than normal bone. Symptoms of Paget's disease may include bone pain, bone deformity, excessive warmth over bone from hypervascularity, secondary arthritis, and a variety of neurologic complications caused in most instances by compression of the neural tissues adjacent to pagetic bone. Genetic factors play a role in the pathogenesis of Paget's disease but the molecular basis remains largely unknown. The identification of the molecular basis of Paget's disease is fundamental for an understanding of the cause of the disease, for identifying subjects at risk at a preclinical stage, and for the development of more effective preventive and therapeutic strategies for the management of the condition. With this in mind, the aim of this project is to identify genetic loci, in a large pedigree, that may harbour genes responsible for Paget's disease of bone. A large Australian family with evidence of Paget's disease was recruited for these studies (Chapter 3). This pedigree has characterised over 250 individuals, with 49 informative individuals affected with Paget's disease of bone, 31 of whom are available for genotypic analysis. The pattern of disease in these individuals is polystotic, with sites of involvement including the spine, pelvis, skull and femur. Although the affected individuals have a severe early-onset form of the disease, the clinical features of the pedigree suggest that the affected family members have Paget's disease and not familial expansile osteolysis (a disease with some similarities to Paget's disease), as our patients have extensive skull and axial skeletal involvement. The disease is inherited as an autosomal dominant trait in the pedigree with high penetrance by the sixth decade. Due to the large size of this family and multiple affected members, this pedigree is a unique resource for the detection of the susceptibility gene in Paget's disease. The first susceptibility loci for Paget's disease of bone have been mapped by other investigators to chromosome 6p21 (PDB1) and 18q21.1-q22 (PDB2) in different pedigrees. Linkage analysis of the Australian pedigree in these studies was performed with markers at PDB1: these data showed significant exclusion of linkage, with LOD scores < - 2 in this region (Chapter 4). Linkage analysis of microsatellite markers from the PDB2 region excluded linkage with this region also, with a 30 cM exclusion region (LOD score < -2.0) centred on D18S42 (Chapter 4). This locus on chromosome 18q21.1-q22 contains a serine protease (serpin) cluster with similarities to chromosome 6p21. Linkage analysis of this region also failed to provide evidence of linkage to this locus (Chapter 4). These data are consistent with genetic heterogeneity of Paget's disease of bone. A gene essential for osteoclast formation encoding receptor activator of nuclear factor-kB (RANK), TNFRSF11A, has been previously mapped to the PDB2 region. Mutations in the TNFRSF11A gene have been identified segregating in pedigrees with Familial Expansile Osteolysis and early onset familial Paget's disease, however, linkage studies and mutation screening have excluded the involvement of RANK in the majority of Paget's disease patients. For the Australian pedigree, mutation screening at the TNFRSF11A locus revealed no mutations segregating with affected individuals with Paget's disease (Chapter 4). Based on these findings, our hypothesis is that a novel susceptibility gene relevant to the pathogenesis of Paget's disease of bone lies elsewhere in the genome in the affected members of this pedigree; this gene should be identifiable using a microsatellite genome-wide scan followed by positional cloning. A genome-wide scan of the Australian pedigree was carried out, followed by fine mapping and multipoint analysis in regions of interest (Chapter 5). The peak 2-point LOD scores from the genome-wide scan were LOD = 2.75 at D7S507 and LOD = 1.76 at D18S70. Two additional regions were also considered for fine mapping: chromosome 19p11-q13.1 with a LOD of 1.58 and chromosome 5q35-qter with a LOD of 1.57. Multipoint and haplotype analysis of markers flanking D7S507 did not support linkage to this region (Chapter 5). Similarly, fine mapping of chromosome 19p11-q13.1 failed to support linkage to this region (Chapter 5). Linkage analysis with additional markers in the region on chromosome 5q35-qter revealed a peak multipoint LOD score of 6.77 (Chapter 5). A distinct haplotype was shown to segregate with all members of the family, except the offspring of III-5 and III-6. Haplotype analysis of markers flanking D18S70 demonstrated a haplotype segregating with Paget's disease in a large sub-pedigree (descendants of III-3 and III-4) (Chapter 5). This sub-pedigree had a significantly lower age at diagnosis than the rest of the pedigree (51.2 + 8.5 vs. 64.2 + 9.7 years, p = 0.0012). Linkage analysis of this sub-pedigree demonstrated a peak two-point LOD score of 4.23 at marker D18S1390 (q = 0.00), and a peak multipoint LOD score of 4.71, at marker D18S70. An implication of these data is that 18q23 harbours a novel modifier gene for reducing the age of onset of Paget's disease of bone. A number of candidate Paget's genes have previously been identified on chromosome 18q23, including the nuclear factor of activated T cells (NFATc1), membrane-associated guanylated kinase (MAGUK) and a zinc finger protein. Candidate gene sequencing of these genes in these studies has failed to identify mutations segregating with affected family members in the sub-pedigree linked to chromosome 18q23 (Chapter 6). More recently, a mutation in the gene encoding the ubiquitin-binding protein sequestosome 1 (SQSTM/p62) has been shown to segregate with affected members of Paget's disease families of French-Canadian origin. In this study, a single base pair deletion (1215delC) was identified as segregating with the majority of affected members in the pedigree (Chapter 6). This deletion introduces a stop codon at amino acid position 392 which potentially results in early termination of the protein and loss of the ubiquitin binding domain. The three affected members of the family that do not share the affected haplotype do not carry a mutation in the coding region of SQSTM/p62. Screening of affected members from 10 further Paget's disease families identified the previously reported P392L mutation in 2 (20%) families. No SQSTM1/p62 coding mutations have been found in the remaining 8 families or in 113 aged matched controls. In conclusion, this project has identified genetic loci and mutations that segregate with individuals affected with Paget's disease. Further investigation of the functional significance of the genetic changes at these loci is expected to lead to a better understanding of the molecular basis of this disease.
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4

Najat, Dereen. "SQSTM1 mutations and Paget's disease of bone". Thesis, University of Nottingham, 2010. http://eprints.nottingham.ac.uk/11118/.

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Mutations affecting the p62 signalling adapter protein are commonly found in patients with the skeletal disorder Paget‟s disease of bone (PDB). We have extended previous in vitro functional analyses of PDB-mutant p62 proteins (Cavey et al., 2006) to study the effects of several uncharacterised PDB-associated mutations on the ubiquitin-binding properties of p62. These include mutations which affect regions of p62 outside of the ubiquitin-binding UBA domain (A381V, D335E and a mutant equivalent to a predicted product of the G1205C splice-site mutation which lacks amino acids 351-388), as well as a double mutation involving the P392L and S399P changes on the same allele. In accordance with previous findings, both of the non-UBA domain mutations (A381V, ∆351-388) showed deleterious effects on ubiquitin-binding by p62 in pull-down assays, further emphasising the important role of non-UBA domain sequences in mediating ubiquitin-recognition, as well as in PDB aetiology. The D335E mutant retained its ubiquitin-binding function in vitro. The P392L/S399P double mutant showed a more severe effect on ubiquitin-binding than either of the single P392L or S399P missense mutations alone; as this double mutation is associated with a particularly severe phenotype, our findings are supportive of the proposal that disease severity in PDB with p62 mutations may be directly related to the effects of the mutations on the ubiquitin-binding function of the p62 protein. Since the in vitro pull-down assays are semi-quantitative at best, we sought to investigate if a more quantitative biophysical approach, two dimensional Heteronuclear Single Quantum Coherence (2D-HSQC) protein NMR, might be applied to investigate the effects of PDB-associated mutations on protein (ubiquitin-binding) function. Our results showed that protein NMR was not optimal to quantitatively assess the effects of the mutations on the interaction between p62 and ubiquitin in vitro. Using confocal microscopy, co-transfection of U20S cells showed that the selected PDB-associated p62 mutants (A381V, P392L, G425R) co-localised with ubiquitin with a cellular phenotype indistinguishable from wild type, as each PDB mutant formed cytoplasmic bodies with an area ranging from the detection limit of the microscope to 40μm2 or higher; in contrast the E396X truncating mutant did not form cytoplasmic bodies nor co-localise with ubiquitin. In addition to interacting with ubiquitin, p62 also interacts with the LC3 (an autophagic marker) through its LC3 interacting region (LIR) to mediate the formation of autophagosomes. By co-transfecting p62 constructs with LC3 We found that some of the p62-positive cytoplasmic bodies were autophagosomes, and that the D335E mutation of p62 (which lies within the LIR) did not appear to affect the formation of autophagosomes. The effects of the wild type and PDB-mutant p62 proteins on NF-κB signalling were assessed in HEK293 cells co-transfected with an NF-κB luciferase reporter construct. A381V mutant p62 produced a level of activation of NF-κB signalling greater than wildtype and similar to that of UBA domain mutants, indicating that non-UBA and UBA domain mutations may exert their effects through a common mechanism involving dysregulated NF-κB signalling. To further examine the function of p62 in the regulation of NF-κB signalling, we went on to determine possible effects of PDB-associated mutations on p62-CYLD (a DUB enzyme) interactions. Unexpectedly we found that CYLD expression appears to abrogate the formation of the p62 cytoplasmic bodies previously shown to be ubiquitin-positive. Finally, we went on to study the interaction of p62 (and its PDB mutants) with another important regulator of NF-κB signalling, IKKγ/NEMO. We concluded that wild type and PDB-mutant p62 proteins are capable of recruiting NEMO to cytoplasmic bodies which may represent autophagosomes, but do not appear to accelerate its degradation.
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Birch, Mark Andrew. "Investigations of bone cells in Paget's disease". Thesis, University of Liverpool, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.333632.

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6

Good, David Andrew. "Genetic Loci for Paget's Disease of Bone". Thesis, Griffith University, 2003. http://hdl.handle.net/10072/365759.

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Paget's disease of the bone is a skeletal disorder of unknown cause. This disease is characterised by excessive and abnormal bone remodelling brought about by increased bone resorption followed by disorganised bone formation. Increased bone turnover results in a disorganised mosaic of woven and lamellar bone at affected skeletal sites. This produces bone that is expanded in size, less compact, more vascular, and more susceptible to deformity or fracture than normal bone. Symptoms of Paget's disease may include bone pain, bone deformity, excessive warmth over bone from hypervascularity, secondary arthritis, and a variety of neurologic complications caused in most instances by compression of the neural tissues adjacent to pagetic bone. Genetic factors play a role in the pathogenesis of Paget's disease but the molecular basis remains largely unknown. The identification of the molecular basis of Paget's disease is fundamental for an understanding of the cause of the disease, for identifying subjects at risk at a preclinical stage, and for the development of more effective preventive and therapeutic strategies for the management of the condition. With this in mind, the aim of this project is to identify genetic loci, in a large pedigree, that may harbour genes responsible for Paget's disease of bone. A large Australian family with evidence of Paget's disease was recruited for these studies (Chapter 3). This pedigree has characterised over 250 individuals, with 49 informative individuals affected with Paget's disease of bone, 31 of whom are available for genotypic analysis. The pattern of disease in these individuals is polystotic, with sites of involvement including the spine, pelvis, skull and femur. Although the affected individuals have a severe early-onset form of the disease, the clinical features of the pedigree suggest that the affected family members have Paget's disease and not familial expansile osteolysis (a disease with some similarities to Paget's disease), as our patients have extensive skull and axial skeletal involvement. The disease is inherited as an autosomal dominant trait in the pedigree with high penetrance by the sixth decade. Due to the large size of this family and multiple affected members, this pedigree is a unique resource for the detection of the susceptibility gene in Paget's disease. The first susceptibility loci for Paget's disease of bone have been mapped by other investigators to chromosome 6p21 (PDB1) and 18q21.1-q22 (PDB2) in different pedigrees. Linkage analysis of the Australian pedigree in these studies was performed with markers at PDB1: these data showed significant exclusion of linkage, with LOD scores < - 2 in this region (Chapter 4). Linkage analysis of microsatellite markers from the PDB2 region excluded linkage with this region also, with a 30 cM exclusion region (LOD score < -2.0) centred on D18S42 (Chapter 4). This locus on chromosome 18q21.1-q22 contains a serine protease (serpin) cluster with similarities to chromosome 6p21. Linkage analysis of this region also failed to provide evidence of linkage to this locus (Chapter 4). These data are consistent with genetic heterogeneity of Paget's disease of bone. A gene essential for osteoclast formation encoding receptor activator of nuclear factor-kB (RANK), TNFRSF11A, has been previously mapped to the PDB2 region. Mutations in the TNFRSF11A gene have been identified segregating in pedigrees with Familial Expansile Osteolysis and early onset familial Paget's disease, however, linkage studies and mutation screening have excluded the involvement of RANK in the majority of Paget's disease patients. For the Australian pedigree, mutation screening at the TNFRSF11A locus revealed no mutations segregating with affected individuals with Paget's disease (Chapter 4). Based on these findings, our hypothesis is that a novel susceptibility gene relevant to the pathogenesis of Paget's disease of bone lies elsewhere in the genome in the affected members of this pedigree; this gene should be identifiable using a microsatellite genome-wide scan followed by positional cloning. A genome-wide scan of the Australian pedigree was carried out, followed by fine mapping and multipoint analysis in regions of interest (Chapter 5). The peak 2-point LOD scores from the genome-wide scan were LOD = 2.75 at D7S507 and LOD = 1.76 at D18S70. Two additional regions were also considered for fine mapping: chromosome 19p11-q13.1 with a LOD of 1.58 and chromosome 5q35-qter with a LOD of 1.57. Multipoint and haplotype analysis of markers flanking D7S507 did not support linkage to this region (Chapter 5). Similarly, fine mapping of chromosome 19p11-q13.1 failed to support linkage to this region (Chapter 5). Linkage analysis with additional markers in the region on chromosome 5q35-qter revealed a peak multipoint LOD score of 6.77 (Chapter 5). A distinct haplotype was shown to segregate with all members of the family, except the offspring of III-5 and III-6. Haplotype analysis of markers flanking D18S70 demonstrated a haplotype segregating with Paget's disease in a large sub-pedigree (descendants of III-3 and III-4) (Chapter 5). This sub-pedigree had a significantly lower age at diagnosis than the rest of the pedigree (51.2 + 8.5 vs. 64.2 + 9.7 years, p = 0.0012). Linkage analysis of this sub-pedigree demonstrated a peak two-point LOD score of 4.23 at marker D18S1390 (q = 0.00), and a peak multipoint LOD score of 4.71, at marker D18S70. An implication of these data is that 18q23 harbours a novel modifier gene for reducing the age of onset of Paget's disease of bone. A number of candidate Paget's genes have previously been identified on chromosome 18q23, including the nuclear factor of activated T cells (NFATc1), membrane-associated guanylated kinase (MAGUK) and a zinc finger protein. Candidate gene sequencing of these genes in these studies has failed to identify mutations segregating with affected family members in the sub-pedigree linked to chromosome 18q23 (Chapter 6). More recently, a mutation in the gene encoding the ubiquitin-binding protein sequestosome 1 (SQSTM/p62) has been shown to segregate with affected members of Paget's disease families of French-Canadian origin. In this study, a single base pair deletion (1215delC) was identified as segregating with the majority of affected members in the pedigree (Chapter 6). This deletion introduces a stop codon at amino acid position 392 which potentially results in early termination of the protein and loss of the ubiquitin binding domain. The three affected members of the family that do not share the affected haplotype do not carry a mutation in the coding region of SQSTM/p62. Screening of affected members from 10 further Paget's disease families identified the previously reported P392L mutation in 2 (20%) families. No SQSTM1/p62 coding mutations have been found in the remaining 8 families or in 113 aged matched controls. In conclusion, this project has identified genetic loci and mutations that segregate with individuals affected with Paget's disease. Further investigation of the functional significance of the genetic changes at these loci is expected to lead to a better understanding of the molecular basis of this disease.
Thesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Biomolecular and Biomedical Sciences
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7

Numan, Mohamed. "Gene-environment interaction in Paget's disease of bone". Master's thesis, Université Laval, 2017. http://hdl.handle.net/20.500.11794/27518.

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La maladie osseuse de Paget (MP) est une maladie métabolique de l’os. Bien que les facteurs génétiques jouent un rôle important dans la pathogénie de la MP, les facteurs environnementaux tels que la résidence rurale et l’exposition au chauffage au bois ont été associés avec la MP. Afin d’étudier le rôle des polluants de l'air extérieur et intérieur sur la MP, nous avons administré un questionnaire chez 140 patients canadiens-français avec la MP et 113 témoins sains. Ce questionnaire portait sur la pollution de l'air extérieur, comme la résidence près d'une autoroute, d’une station de bus, de train ou d’un aéroport, d’une station d'essence, et sur les polluants de l'air intérieur en mettant l'accent sur les combustibles de chauffage (charbon, bois, huile) et l'exposition au tabac. Dans un sous-groupe de patients, la concentration urinaire de 17 métaux lourds et de 11 hydrocarbures aromatiques polycycliques a été mesurée par spectrométrie de masse. À la lumière de ce que nous savions dès le questionnaire et les dosages urinaires, nous avons identifié certains toxiques pouvant être des facteurs de risque pour la MP. Pour explorer les effets in vitro de ces toxiques sur les ostéoclastes dans la MP, nous avons réalisé une différentiation in vitro de monocytes du sang périphérique provenant de plus de 40 participants, patients, porteurs sains de mutation dans le gène SQSTM1, et des témoins sains, en ostéoclastes traités avec ou sans les toxiques identifiés. La morphologie des ostéoclastes, le pourcentage de résorption osseuse, les niveaux d'expression génique, et les niveaux de stress oxydatif cellulaire ont été analysés. Les résultats ont montré un effet inhibiteur du condensé de la fumée de cigarette et des métaux lourds sur la morphologie et la fonction des ostéoclastes. De plus, des taux élevés de stress oxydatif chez les ostéoclastes des patients ont été observés, et un profil hétérogène des effets de métaux lourds sur l'expression des gènes a été identifié.
Paget's disease of bone (PDB) is a metabolic bone disease. Although genetic factors play an important role in the pathogenesis of PDB, environmental factors such as rural residence and the exposure to wood heating was associated with PDB. In order to study the role of outdoor and indoor air pollutants on PDB, we performed a survey in 140 French-Canadian patients with PDB and 113 healthy controls. The survey covered the outdoor air pollution such as the residence near a highway, a bus station, a train or an airport or a gas station, and indoor air pollutants by focusing on heating fuels (carbon, wood, oil) and exposure to tobacco smoke. In a subgroup of patients, urinary concentration of 17 heavy metals and 11 polycyclic aromatic hydrocarbons was measured by mass spectrometry. In light of what we knew from the survey and urinary assays, we identified certain toxics that could be risk factors for PDB. To explore the in vitro effects of these toxics on osteoclasts in PDB, we conducted in vitro monocytes differentiation from peripheral blood of more than 40 participants, patients, healthy carriers of p.Pro392Leu mutation, and healthy controls, which osteoclasts were treated with or without the identified toxic. The morphology of osteoclasts, the percentage of bone resorption, gene expression level, and cellular oxidative stress levels were assayed. The results showed an inhibitory effect of cigarette smoke condensate and heavy metals on morphology and function of patients’ osteoclasts. Further, high levels of oxidative stress in patients’ osteoclasts were observed, and a heterogenic profile of heavy metals effect on gene expression was identified.
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8

Billah, Ahmed Mohammed El-Motaz. "Markers of bone turnover in health and disease". Thesis, University of Nottingham, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295769.

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9

Taggart, Frances Margaret. "The epidemiology of Paget's disease of bone in Europe". Thesis, University of Southampton, 1988. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.328623.

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10

Rios, Visconti Micaela. "Genetic and environmental determinants of Paget's disease of bone". Thesis, University of Edinburgh, 2015. http://hdl.handle.net/1842/20421.

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Genetic factors play an important role in the pathogenesis of Paget’s Disease of Bone (PDB). The most important predisposing gene is SQSTM1 which is mutated in about 10% of patients, additionally common variants at seven other loci have also been shown to predispose to PDB as well as environmental factors which are also important in the pathogenesis of PDB. Little research has been conducted on the relationship between the genetic variants that predispose to PDB and disease severity. Similarly, only limited information exists on the role that gene-environment interactions play in the pathogenesis of PDB or its severity. The aim of the present thesis was to explore these issues in participants of the Paget’s Disease Randomised Trial of Intensive versus Symptomatic Management study (PRISM) and other study cohorts. In chapter 3, I investigate the relationship between SQSTM1 mutation status, disease severity and clinical outcome in 737 patients from the PRISM study. Mutations of SQSTM1 were detected in 80/737 (10.9%) patients. Mutation carriers had an earlier age at diagnosis; a greater number of affected bones and more commonly had required orthopaedic surgery and bisphosphonate therapy than those without mutations. Quality of life was significantly reduced in carriers and during the study; fractures were more common although most of these occurred in unaffected bone. This study demonstrates that SQSTM1 mutations are strongly associated with disease severity and complications of PDB. In chapter 4, I study associations between common genetic variants identified by genome wide association (GWAS), clinical severity and extent of PDB, alone and in combination with SQSTM1 mutations. This showed that these common variants were also associated with severity and extent of PDB in PRISM, but with weaker effects than SQSTM1 mutations. The findings were replicated in a multinational study involving 1940 subjects from centres in Italy, Spain and Australia. In all cohorts the GWAS risk alleles acted in an additive manner with SQSTM1 mutations to regulate disease severity and extent. By combining information from SQSTM1 status and the new risk alleles, however, we are able to develop a genetic risk score which delineated three distinct groups with markedly differing effects on disease extent and severity. In chapter 5, I study associations between PDB, severity and extent in relation to circulating levels of IgG antibodies against various viruses including Rubella, respiratory syncytial virus, distemper, varicella zoster virus, measles and mumps. We found little evidence of an interaction between viral antibody titres and SQSTM1 in predicting disease severity with the notable exception of mumps virus where subjects with the highest levels of antibodies that were SQSTM1 positive had in increased age at diagnosis than the other genotype / viral antibody groups. Overall the studies do provide no support for the notion that patients with PDB have an abnormal antibody response to paramyxovirus or have had previous infections with these viruses more frequently than controls. This of course does not exclude the possibility that PDB patients might have a clinically occult slow virus infection which is not accompanied by an abnormality in the immune response. . This raises the possibility that genetic testing may be of value in identifying individuals at risk of developing severe disease and those at risk of complications. I also demonstrate that PBD patients have abnormalities in circulating antibodies to various viruses suggesting that the disease may be associated with disturbance in the response of the immune system to infectious agents but further investigation is required. This, perhaps, could explain the changes in the severity and prevalence of PDB that have been observed over recent years in several countries.
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Książki na temat "Paget's disease of bone"

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Arthritis & Rheumatism Council for Research., red. Paget's disease of bone: An information booklet. Chesterfield: Arthritis & Rheumatism Council for Research, 1997.

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Kanis, John A. Pathophysiology and treatment of Paget's disease of bone. London: Martin Dunitz, 1991.

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National Institutes of Health (U.S.). Osteoporosis and Related Bone Diseases National Resource Center. Questions and answers about Paget's disease of bone. Bethesda, MD: NIH Osteoporosis and Related Bone Diseases National Resource Center, 2011.

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Singer, Frederick R., i Stanley Wallach, red. Paget’s Disease of Bone. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-2307-5.

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Symposium on the Treatment of Paget's Disease of Bone (1989 New York, N.Y.). Paget's disease of bone: Clinical assessment, present and future therapy : proceedings of the Symposium on the Treatment of Paget's Disease of Bone, held October 20, 1989 in New York City. New York: Elsevier, 1991.

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Khetarpal, Umang. In search of pathologic correlates for hearing loss and vertigo in Paget's disease: A clinical and histopathologic study of 26 temporal bones. St. Louis: Annals Pub. Co., 1990.

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R, Reid I., red. Metabolic bone disease. London: Baillière Tindall, 1997.

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Lecka-Czernik, Beata, i John L. Fowlkes, red. Diabetic Bone Disease. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-16402-1.

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Diel, Ingo J., M. Kaufmann i G. Bastert, red. Metastatic Bone Disease. Berlin, Heidelberg: Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-78596-2.

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Roodman, G. David, red. Myeloma Bone Disease. Totowa, NJ: Humana Press, 2010. http://dx.doi.org/10.1007/978-1-60761-554-5.

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Części książek na temat "Paget's disease of bone"

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Siris, Ethel S., i G. David Roodman. "Paget's Disease of Bone". W Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, 659–68. Ames, USA: John Wiley & Sons, Inc., 2013. http://dx.doi.org/10.1002/9781118453926.ch80.

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Perry, Horace M. "Paget's Disease of Bone". W Pathy's Principles and Practice of Geriatric Medicine, 1073–82. Chichester, UK: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781119952930.ch89.

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Seton, Margaret. "Paget's Disease of Bone". W A Clinician's Pearls and Myths in Rheumatology, 405–8. London: Springer London, 2009. http://dx.doi.org/10.1007/978-1-84800-934-9_41.

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Braun-Falco, Markus, Henry J. Mankin, Sharon L. Wenger, Markus Braun-Falco, Stephan DiSean Kendall, Gerard C. Blobe, Christoph K. Weber i in. "Paget's Disease of Bone". W Encyclopedia of Molecular Mechanisms of Disease, 1557–59. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1355.

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Bone, Henry G. "Meet the Professor: Paget's Disease of Bone". W 2015 Meet-The-Professor: Endocrine Case Management, 54–56. 2055 L Street, NW, Suite 600, Washington, DC 20036: The Endocrine Society, 2015. http://dx.doi.org/10.1210/mtp4.9781936704941.ch12.

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Paulos, Jaime. "Paget’s Disease of Bone". W Bone Tumors, 177. London: Springer London, 2021. http://dx.doi.org/10.1007/978-1-4471-7501-8_30.

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Anderson, D. C. "Paget’s Disease". W Physiology and Pharmacology of Bone, 419–41. Berlin, Heidelberg: Springer Berlin Heidelberg, 1993. http://dx.doi.org/10.1007/978-3-642-77991-6_12.

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Bartl, Reiner, i Christoph Bartl. "Paget’s Disease of the Bone". W Bone Disorders, 369–75. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-29182-6_65.

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Kaplan, Frederick S. "Surgery in Paget’s Disease". W Paget’s Disease of Bone, 200–213. Boston, MA: Springer US, 1991. http://dx.doi.org/10.1007/978-1-4684-2307-5_15.

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Mazhari, Alaleh, Vinita Singh, Nicholas Emanuele i Mary Ann Emanuele. "Paget’s Disease of Bone". W Metabolic Bone Diseases, 99–116. Cham: Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03694-2_8.

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Streszczenia konferencji na temat "Paget's disease of bone"

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Alzahr, A., M. Mansour i B. Knof. "Paget's disease in temporal bone". W Abstract- und Posterband – 89. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Forschung heute – Zukunft morgen. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1640234.

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Sordillo, Diana C., Laura A. Sordillo, Lingyan Shi, Yury Budansky, Peter P. Sordillo i Robert R. Alfano. "Novel, near-infrared spectroscopic, label-free, techniques to assess bone abnormalities such as Paget's disease, osteoporosis and bone fractures". W SPIE BiOS, redaktorzy Bernard Choi, Nikiforos Kollias, Haishan Zeng, Hyun Wook Kang, Brian J. F. Wong, Justus F. Ilgner, Alfred Nuttal i in. SPIE, 2015. http://dx.doi.org/10.1117/12.2181314.

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Artusi, C., C. Mastaglio, C. Arnoldi, V. Galbiati i PL Meroni. "AB1006 Power-doppler technique in paget's disease of bone: a new monitoring tool of therapeutic response. study on 43 patients". W Annual European Congress of Rheumatology, 14–17 June, 2017. BMJ Publishing Group Ltd and European League Against Rheumatism, 2017. http://dx.doi.org/10.1136/annrheumdis-2017-eular.4272.

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Terán Tinedo, María Andreína, Cristina Pijoan Moratalla i Jose Renato Quiñones Torres. "AB0891 HYPERURICEMIA AND GOUT IN PATIENTS WITH PAGET’S DISEASE OF BONE". W Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.7534.

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Crotti, Chiara, Francesca Zucchi, Andrea Becciolini, Luigi Sinigaglia i Massimo Varenna. "SAT0414 CLINICAL PRESENTATION OF PAGET DISEASE OF BONE: IS IT CHANGING? A RETROSPECTIVE ANALYSIS ON 368 PATIENTS". W Annual European Congress of Rheumatology, EULAR 2019, Madrid, 12–15 June 2019. BMJ Publishing Group Ltd and European League Against Rheumatism, 2019. http://dx.doi.org/10.1136/annrheumdis-2019-eular.4832.

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Yeo, J., C. Kanitsoraphan, T. Nagamine i S. J. Evans. "Penis in the Lung: A Rare Presentation of Extramammary Paget's Disease". W American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a3395.

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Thécua, Elise, Fabienne Lecomte, Laurine Ziane, Anne-Sophie Vignion-Dewalle, Cyril Maire, Claire Vicentini, Henry Abirached, Delphine Staumont, Laurent Mortier i Serge R. Mordon. "Light emitting fabrics for photodynamic treatment of vulvar primary extramammary Paget's disease". W 17th International Photodynamic Association World Congress, redaktor Tayyaba Hasan. SPIE, 2019. http://dx.doi.org/10.1117/12.2525609.

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Kusak, A. S., i D. Bielecki. "Paget's Disease: Present for Decades and Still Underestimated: The Hand and Forearm". W 28th Annual Scientific Meeting of the European Society of Musculoskeletal Radiology (ESSR), Virtual Edition, June 2021. Thieme Medical Publishers, Inc., 2021. http://dx.doi.org/10.1055/s-0041-1731527.

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Favus, Murray J., James C. Williams, Andrew P. Evan, James E. Lingeman i James A. McAteer. "Hypercalciuric Bone Disease". W RENAL STONE DISEASE 2: 2nd International Urolithiasis Research Symposium. AIP, 2008. http://dx.doi.org/10.1063/1.2998016.

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Sordillo, Diana C., Yury Budansky, Peter P. Sordillo, Laura A. Sordillo i Robert Alfano. "A novel approach to Paget's disease diagnosis and monitoring using near-infrared absorption spectroscopy". W SPIE BiOS, redaktorzy Nikiforos Kollias, Bernard Choi, Haishan Zeng, Hyun Wook Kang, Bodo E. Knudsen, Brian J. Wong, Justus F. Ilgner i in. SPIE, 2013. http://dx.doi.org/10.1117/12.981747.

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Raporty organizacyjne na temat "Paget's disease of bone"

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Hansen, Marc. The Nature of Expansion of Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, kwiecień 2013. http://dx.doi.org/10.21236/ada586286.

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Hansen, Marc F. Understanding the Delay in Onset of Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, wrzesień 2014. http://dx.doi.org/10.21236/ada613442.

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Hansen, Marc. On the Nature of Expansion of Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, październik 2012. http://dx.doi.org/10.21236/ada573353.

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Kurihara, Noriyoshi. Role of TAF12 in the Increased VDR Activity in Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, październik 2014. http://dx.doi.org/10.21236/ada613487.

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Kurihara, Noriyoshi. Role of TAF12 in the Increased VDR Activity in Paget's Disease of Bone. Fort Belvoir, VA: Defense Technical Information Center, październik 2013. http://dx.doi.org/10.21236/ada599600.

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Reddy, Sakamuri. Osteoclast Inhibitory Peptide-1 Therapy for Paget's Disease. Fort Belvoir, VA: Defense Technical Information Center, sierpień 2010. http://dx.doi.org/10.21236/ada539193.

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Reddy, Sakamuri V. Osteoclast Inhibitory Peptide-1 Therapy for Paget's Disease. Fort Belvoir, VA: Defense Technical Information Center, sierpień 2012. http://dx.doi.org/10.21236/ada567774.

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Reddy, Sakamuri. Osteoclast Inhibitory Peptide-1 Therapy for Paget's Disease. Fort Belvoir, VA: Defense Technical Information Center, sierpień 2011. http://dx.doi.org/10.21236/ada553287.

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Wu, Zijian, Liang Li, Guiling Wu, Youqiong Xie, Jia Li i Rui Peng. Effects of Tonifying Kidney and Strengthen Bone Therapy on Non-dialysis Patients With Chronic Kidney Disease-Mineral and Bone Disorder: a protocol for the systematic review and meta-analysis of randomized controlled trials. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, grudzień 2020. http://dx.doi.org/10.37766/inplasy2020.12.0086.

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Xiang, Kemeng, Huiming Hou i Ming Zhou. The efficacy of Cerus and Cucumis Polypeptide injection combined with Bisphosphonates on postmenopausal women with osteoporosis:A protocol for systematic review and meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, maj 2022. http://dx.doi.org/10.37766/inplasy2022.5.0067.

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Review question / Objective: The aim of this review is to evaluate the effectiveness of Cerus and Cucumis Polypeptide injection combined with Bisphosphonates for postmenopausal osteoporosis. Condition being studied: Postmenopausal osteoporosis (PMOP) is a disorder of bone metabolism caused by estrogen deficiency in women after menopause, which manifests clinically as pain, spinal deformities and even fragility fractures, affecting the quality of life of patients and possibly shortening their life span. Bisphosphonates are commonly used to control and delay the progression of the disease, improve the patient's symptoms and reduce the incidence of fragility fractures. However, single drugs are still lacking in controlling the progression of the disease, and the combination of drugs is the clinical priority.
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