S H Ralston

Summary

Affiliation: University of Aberdeen
Country: UK

Publications

  1. ncbi request reprint Bone densitometry and bone biopsy
    Stuart H Ralston
    Bone Research Group, Institute of Medical Sciences, University of Aberdeen Medical School, Foresterhill, Aberdeen AB25 2ZD, UK
    Best Pract Res Clin Rheumatol 19:487-501. 2005
  2. ncbi request reprint Mechanisms of cytokine induced bone resorption: role of nitric oxide, cyclic guanosine monophosphate, and prostaglandins
    S H Ralston
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill, UK
    Bone 19:29-33. 1996
  3. ncbi request reprint Genetic control of susceptibility to osteoporosis
    Stuart H Ralston
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill, Aberdeen AB25 2ZD, Scotland, UK
    J Clin Endocrinol Metab 87:2460-6. 2002
  4. ncbi request reprint Medical management of hypercalcemia
    S H Ralston
    Department of Medicine and Bone Metabolism, University of Aberdeen, AB25 2ZD, UK
    Calcif Tissue Int 74:1-11. 2004
  5. ncbi request reprint Genetic determinants of susceptibility to osteoporosis
    Stuart H Ralston
    University of Aberdeen Medical School, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
    Curr Opin Pharmacol 3:286-90. 2003
  6. ncbi request reprint COLIA1 Sp1 polymorphism predicts response of femoral neck bone density to cyclical etidronate therapy
    A M Qureshi
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, United Kingdom
    Calcif Tissue Int 70:158-63. 2002
  7. ncbi request reprint COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss
    H M Macdonald
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, United Kingdom
    J Bone Miner Res 16:1634-41. 2001
  8. pmc Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone
    O M E Albagha
    The Bone Research Group, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
    J Med Genet 42:240-6. 2005
  9. pmc A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality
    V Mann
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, United Kingdom
    J Clin Invest 107:899-907. 2001
  10. ncbi request reprint Activation of the inducible nitric oxide synthase pathway contributes to inflammation-induced osteoporosis by suppressing bone formation and causing osteoblast apoptosis
    K J Armour
    University of Aberdeen Medical School, UK
    Arthritis Rheum 44:2790-6. 2001

Detail Information

Publications91

  1. ncbi request reprint Bone densitometry and bone biopsy
    Stuart H Ralston
    Bone Research Group, Institute of Medical Sciences, University of Aberdeen Medical School, Foresterhill, Aberdeen AB25 2ZD, UK
    Best Pract Res Clin Rheumatol 19:487-501. 2005
    ..Under these circumstances it is an invaluable investigation that can be used to differentiate infiltrative disorders from primary abnormalities of osteoblast or osteoclast function...
  2. ncbi request reprint Mechanisms of cytokine induced bone resorption: role of nitric oxide, cyclic guanosine monophosphate, and prostaglandins
    S H Ralston
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill, UK
    Bone 19:29-33. 1996
    ....
  3. ncbi request reprint Genetic control of susceptibility to osteoporosis
    Stuart H Ralston
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill, Aberdeen AB25 2ZD, Scotland, UK
    J Clin Endocrinol Metab 87:2460-6. 2002
    ....
  4. ncbi request reprint Medical management of hypercalcemia
    S H Ralston
    Department of Medicine and Bone Metabolism, University of Aberdeen, AB25 2ZD, UK
    Calcif Tissue Int 74:1-11. 2004
  5. ncbi request reprint Genetic determinants of susceptibility to osteoporosis
    Stuart H Ralston
    University of Aberdeen Medical School, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
    Curr Opin Pharmacol 3:286-90. 2003
    ..Information from these studies is being used to design new drugs for osteoporosis and to develop genetic markers for fracture risk assessment...
  6. ncbi request reprint COLIA1 Sp1 polymorphism predicts response of femoral neck bone density to cyclical etidronate therapy
    A M Qureshi
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, United Kingdom
    Calcif Tissue Int 70:158-63. 2002
    ..Our data raise the possibility that COLIA1 genotyping could be used to target etidronate therapy to those most likely to respond in terms of FN BMD, with potential benefits in terms of economic cost and clinical outcome...
  7. ncbi request reprint COL1A1 Sp1 polymorphism predicts perimenopausal and early postmenopausal spinal bone loss
    H M Macdonald
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, United Kingdom
    J Bone Miner Res 16:1634-41. 2001
    ..0%), weight (5.0%), and baseline BMD (2.8%). We conclude that women homozygous for the Sp1 polymorphism are at significantly increased risk of excess rates of bone loss at the spine, but this effect may be nullified by the use of HRT...
  8. pmc Association of oestrogen receptor alpha gene polymorphisms with postmenopausal bone loss, bone mass, and quantitative ultrasound properties of bone
    O M E Albagha
    The Bone Research Group, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
    J Med Genet 42:240-6. 2005
    ..The gene encoding oestrogen receptor alpha (ESR1) appears to regulate bone mineral density (BMD) and other determinants of osteoporotic fracture risk...
  9. pmc A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality
    V Mann
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, United Kingdom
    J Clin Invest 107:899-907. 2001
    ..We conclude that the COL1A1 Sp1 polymorphism is a functional genetic variant that predisposes to osteoporosis by complex mechanisms involving changes in bone mass and bone quality...
  10. ncbi request reprint Activation of the inducible nitric oxide synthase pathway contributes to inflammation-induced osteoporosis by suppressing bone formation and causing osteoblast apoptosis
    K J Armour
    University of Aberdeen Medical School, UK
    Arthritis Rheum 44:2790-6. 2001
    ..CONCLUSION: Inducible NOS-mediated osteoblast apoptosis and depressed bone formation play important roles in the pathogenesis of IMO...
  11. ncbi request reprint Inhibition of bone resorption in vitro and prevention of ovariectomy-induced bone loss in vivo by flurbiprofen nitroxybutylester (HCT1026)
    K J Armour
    University of Aberdeen Medical School, UK
    Arthritis Rheum 44:2185-92. 2001
    ..We conclude that HCT1026 may be of clinical value in the prevention and treatment of inflammatory diseases such as rheumatoid arthritis, which are characterized by joint inflammation as well as periarticular and systemic bone loss...
  12. ncbi request reprint Association between COLIA1 Sp1 alleles and femoral neck geometry
    A M Qureshi
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill, UK
    Calcif Tissue Int 69:67-72. 2001
    ..The association COLIAI genotype and increased femoral neck angle noted here may therefore contribute to the BMD-independent increase in hip fracture risk noted in previous studies of individuals who carry the 's' allele...
  13. ncbi request reprint Prediction of osteoporotic fractures by bone densitometry and COLIA1 genotyping: a prospective, population-based study in men and women
    F E McGuigan
    Department of Medicine and Therapeutics, Foresterhill, Aberdeen, UK
    Osteoporos Int 12:91-6. 2001
    ..We conclude that in our population, COLIA1 genotyping predicts fractures independently of bone mass and interacts with bone densitometry to help identify women who are at high and low risk of sustaining osteoporotic fractures...
  14. ncbi request reprint Methylenetetrahydrofolate reductase polymorphism interacts with riboflavin intake to influence bone mineral density
    H M Macdonald
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK
    Bone 35:957-64. 2004
    ..This raises the possibility that riboflavin intake and MTHFR genotype might interact to regulate BMD. Further work is required to determine if this association holds true for other populations and ethnic groups...
  15. ncbi request reprint Association of COLIA1 Sp1 alleles with defective bone nodule formation in vitro and abnormal bone mineralization in vivo
    T L Stewart
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Aberdeen, AB25 2ZD, UK
    Calcif Tissue Int 77:113-8. 2005
    ..This suggests that the increased bone fragility in carriers of the COLIA1 Sp1 allele may result in part from defects in bone mineralization...
  16. ncbi request reprint Defective bone formation and anabolic response to exogenous estrogen in mice with targeted disruption of endothelial nitric oxide synthase
    K E Armour
    Department of Medicine and Therapeutics, Foresterhill, University of Aberdeen Medical School, Aberdeen, AB25 2ZD, United Kingdom
    Endocrinology 142:760-6. 2001
    ..We conclude that the eNOS pathway plays an essential role in regulating bone mass and bone turnover by modulating osteoblast function...
  17. ncbi request reprint Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis
    D M Reid
    Department of Medicine and Therapeutics, Medical School, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK
    Osteoporos Int 17:125-32. 2006
    ....
  18. pmc Nitric oxide and bone
    R J van't Hof
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, UK
    Immunology 103:255-61. 2001
    ..These data indicate that the L-arginine/NO pathway represents a novel target for therapeutic intervention in the prevention and treatment of bone diseases...
  19. ncbi request reprint Association of PLOD1 polymorphisms with bone mineral density in a population-based study of women from the UK
    P N Tasker
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Aberdeen, AB25 2ZD, UK
    Osteoporos Int 17:1078-85. 2006
    ..Whilst further studies will be required to confirm and extend these observations, our studies raise the possibility that A99T heterozygosity might affect lysyl hydroxylase function and regulate bone mass...
  20. ncbi request reprint Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture
    V Mann
    Bone Research Group, Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, Scotland, UK
    Bone 32:711-7. 2003
    ..We conclude that the COL1A1 Sp1 alleles are associated with a modest reduction in BMD and a significant increase in risk of osteoporotic fracture, particularly vertebral fracture...
  21. ncbi request reprint Management of Paget's disease of bone
    A L Langston
    Health Services Research Unit, University of Aberdeen, UK
    Rheumatology (Oxford) 43:955-9. 2004
    ....
  22. ncbi request reprint The flurbiprofen derivatives HCT1026 and HCT1027 inhibit bone resorption by a mechanism independent of COX inhibition and nitric oxide production
    A I Idris
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
    Bone 35:636-43. 2004
    ..This demonstrates that HCT1026 and derivatives could represent a novel class of antiresorptive drugs with therapeutic value in the treatment of bone diseases associated with accelerated bone loss due to osteoclast activation...
  23. pmc Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35
    L J Hocking
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Aberdeen AB25 2ZD, United Kingdom
    Am J Hum Genet 69:1055-61. 2001
    ..47 at D5S2034 (187.8 cM). These data indicate the presence of several susceptibility loci for PDB and identify a strong candidate locus for the disease, on chromosome 5q35...
  24. pmc Dose-response study of ibandronate in the treatment of cancer-associated hypercalcaemia
    S H Ralston
    University of Aberdeen, UK
    Br J Cancer 75:295-300. 1997
    ..We conclude that ibandronate is a safe, well tolerated and effective treatment for cancer-associated hypercalcaemia, which should prove a useful addition to the current range of therapies available to treat this condition...
  25. ncbi request reprint Detection of nitric oxide and nitric oxide synthases in psoriasis
    A D Ormerod
    Department of Dermatology, University of Aberdeen, UK
    Arch Dermatol Res 290:3-8. 1998
    ....
  26. pmc Requirement of the inducible nitric oxide synthase pathway for IL-1-induced osteoclastic bone resorption
    R J van't Hof
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom
    Proc Natl Acad Sci U S A 97:7993-8. 2000
    ..These results show that the iNOS pathway is essential for IL-1-induced bone resorption and suggest that the effects of NO may be mediated by modulating IL-1-induced nuclear activation of NFkappaB in osteoclast precursors...
  27. ncbi request reprint Estrogen receptor alpha gene polymorphisms and bone mineral density: haplotype analysis in women from the United Kingdom
    O M Albagha
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, UK
    J Bone Miner Res 16:128-34. 2001
    ....
  28. ncbi request reprint Cytokine-activated endothelium recruits osteoclast precursors
    N W McGowan
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill, Aberdeen, AB25 2ZD, United Kingdom
    Endocrinology 142:1678-81. 2001
    ..These results provide the first evidence that osteoclast precursors can adhere to endothelium and suggest that endothelium could play an important role in the recruitment of osteoclast precursors to sites of bone resorption...
  29. pmc Presentation of a PTHrP-secreting pancreatic neuroendocrine tumour, with hypercalcaemic crisis, pre-eclampsia, and renal failure
    P Abraham
    Department of Endocrinology, Aberdeen Royal Infirmary, Foresterhill, Aberdeen, UK
    Postgrad Med J 78:752-3. 2002
    ..A raised PTHrP concentration is a strong indicator of malignancy...
  30. ncbi request reprint Pharmacological management of back pain syndromes
    R W Porter
    University of Aberdeen, Department of Orthopaedics, Scotland
    Drugs 48:189-98. 1994
    ..Other drugs which may be useful in relieving back pain associated with specific circumstances include the tricyclic antidepressants, anxiolytics, antiepileptic agents, corticosteroids, colchicine and chymopapain...
  31. ncbi request reprint Paget's disease of bone: evidence for a susceptibility locus on chromosome 18q and for genetic heterogeneity
    S I Haslam
    Department of Medicine and Therapeutics, University of Aberdeen, United Kingdom
    J Bone Miner Res 13:911-7. 1998
    ..Data from three families did not support evidence of linkage to 18q21-22 however, indicating that Paget's disease is genetically heterogeneous and suggests the presence of at least one additional locus which remains to be discovered...
  32. ncbi request reprint Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene
    S F Grant
    Department of Medicine and Therapeutics, University of Aberdeen, UK
    Nat Genet 14:203-5. 1996
    ....
  33. ncbi request reprint Nitric oxide production by human proximal tubular cells: a novel immunomodulatory mechanism?
    J S McLay
    Department of Medicine and Therapeutics, Aberdeen University Medical School, Foresterhill, Scotland, United Kingdom
    Kidney Int 46:1043-9. 1994
    ..The results of this study clearly show that human proximal tubular cells, in primary culture, are capable of producing nitric oxide in response to an immune challenge secondary to the induction of nitric oxide synthase...
  34. ncbi request reprint Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone
    Gavin J A Lucas
    Department of Medicine and Therapeutics, University of Aberdeen, UK
    Bone 38:280-5. 2006
    ..Genetic variation in VCP does not appear to be a common cause of familial or sporadic PDB in the absence of myopathy and dementia...
  35. ncbi request reprint Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women
    Tracy L Stewart
    Rheumatic Diseases Unit, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    J Clin Endocrinol Metab 91:3575-83. 2006
    ..The COLIA1 gene is a strong candidate for susceptibility to osteoporosis. The causal genetic variants are currently unclear, but the most likely are functional polymorphisms in the promoter and intron 1 of COLIA1...
  36. ncbi request reprint Genetic determinants of osteoporosis
    Stuart H Ralston
    Department of Rheumatology, Rheumatic Diseases Unit, Edinburgh University Western General Hospital, Edinburgh, United Kingdom
    Curr Opin Rheumatol 17:475-9. 2005
    ..Several advances have been made over recent years in understanding the genetic basis of susceptibility to osteoporosis. This paper will review recent developments in this area...
  37. pmc Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study
    Stuart H Ralston
    Rheumatic Diseases Unit, University of Edinburgh, Western General Hospital Edinburgh, Edinburgh, United Kingdom
    PLoS Med 3:e90. 2006
    ....
  38. ncbi request reprint Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22
    Claire A Parsons
    Bone Research Group, University of Aberdeen, UK
    Hum Mol Genet 14:3141-8. 2005
    ..002). Our study illustrates that interspecies synteny can be used to identify and refine QTL for complex traits and represents the first example where a human QTL for BMD regulation has been mapped using this approach...
  39. ncbi request reprint An integrated approach to consumer representation and involvement in a multicentre randomized controlled trial
    Anne L Langston
    Health Services Research Unit, University of Aberdeen, Aberdeen, UK
    Clin Trials 2:80-7. 2005
    ..Adoption of such an approach in other trials may yield significant improvements in recruitment and quality of participant information flow. There are, however, resource implications for both parties...
  40. pmc Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were av
    Anne L Langston
    Health Services Research Unit, University of Aberdeen, Polwarth Building, Foresterhill, Aberdeen, AB25 2ZD, UK
    BMC Health Serv Res 6:71. 2006
    ..The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment...
  41. ncbi request reprint The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis
    Andre G Uitterlinden
    Erasmus MC, Rotterdam, The Netherlands
    Ann Intern Med 145:255-64. 2006
    ..Polymorphisms of the vitamin D receptor (VDR) gene have been implicated in the genetic regulation of bone mineral density (BMD). However, the clinical impact of these variants remains unclear...
  42. ncbi request reprint Mechanisms of disease: genetics of Paget's disease of bone and related disorders
    Anna Daroszewska
    University of Edinburgh, UK
    Nat Clin Pract Rheumatol 2:270-7. 2006
    ....
  43. ncbi request reprint Vitamin K1 intake is associated with higher bone mineral density and reduced bone resorption in early postmenopausal Scottish women: no evidence of gene-nutrient interaction with apolipoprotein E polymorphisms
    Helen M Macdonald
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom
    Am J Clin Nutr 87:1513-20. 2008
    ..Polymorphisms in the apolipoprotein E (APOE) gene are associated with fracture risk, and a potential mechanism is through vitamin K transport...
  44. doi request reprint Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: the GENOMOS study
    Bente L Langdahl
    Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark
    Bone 42:969-81. 2008
    ....
  45. doi request reprint Aminobisphosphonates cause osteoblast apoptosis and inhibit bone nodule formation in vitro
    Aymen I Idris
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, General Western Hospital, Edinburgh EH4 2XU, UK
    Calcif Tissue Int 82:191-201. 2008
    ..This raises the possibility that inhibition of bone formation by bisphosphonates may be due in part to a direct inhibitory effect on cells of the osteoblast lineage...
  46. ncbi request reprint Advances in the molecular pharmacology and therapeutics of bone disease and International Symposium on Paget's Disease July 10-14, 2007 St. Catherine's College, Oxford, UK
    Stuart H Ralston
    Department of Medicine, University of Edinburgh, UK
    Bone 41:1059-62. 2007
  47. ncbi request reprint PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton
    Carles Vilariño-Güell
    Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, University of Oxford, Headington, Oxford, UK
    Calcif Tissue Int 81:270-8. 2007
    ..006) and total body less head BMD (P = 0.02), corrected for age and gender, confirming the family findings. These findings suggest a role for PTHR1 variation in determining peak BMD...
  48. ncbi request reprint Genetics of osteoporosis
    Stuart H Ralston
    Molecular Medicine Centre, Rheumatic Diseases Unit, Edinburgh University, Western General Hospital, Edinburgh EH4 2XU, UK
    Proc Nutr Soc 66:158-65. 2007
    ....
  49. ncbi request reprint Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone
    Greet Beyens
    Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium
    J Bone Miner Res 22:1062-71. 2007
    ..We observed no association in men, but a highly significant association was found in women, and this was confirmed in a population from the United Kingdom...
  50. ncbi request reprint Genetics and osteoporosis
    Omar M E Albagha
    Rheumatology Section, Molecular Medicine Centre, University of Edinburgh School of Molecular and Clinical Medicine, Western General Hospital, Edinburgh, EH4 2XU, United Kingdom
    Rheum Dis Clin North Am 32:659-80. 2006
    ..They could be developed as diagnostic genetic tests or form molecular targets for design of new drugs for the prevention and treatment of osteoporosis and other bone diseases...
  51. ncbi request reprint Development and characterization of biphenylsulfonamides as novel inhibitors of bone resorption
    Iain R Greig
    School of Medicine, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK
    J Med Chem 49:7487-92. 2006
    ..In conclusion, biphenylsulfonamides like 55 form a new class of potent antiresorptive agents with possible therapeutic use in diseases characterized by increased bone resorption...
  52. ncbi request reprint Large-scale population-based study shows no association between common polymorphisms of the TGFB1 gene and BMD in women
    Fiona E A McGuigan
    Department of Medicine and Therapeutics, University of Aberdeen, UK
    J Bone Miner Res 22:195-202. 2007
    ..We studied five common polymorphisms of TGFB1 in relation to osteoporosis-related phenotypes in a population-based cohort of 2975 British women, but found no significant association with bone mass, bone loss, bone markers, or fracture...
  53. pmc Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability
    Blair H Smith
    University of Aberdeen, Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen, UK
    BMC Med Genet 7:74. 2006
    ....
  54. ncbi request reprint Genetic regulation of bone mass and susceptibility to osteoporosis
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Genes Dev 20:2492-506. 2006
    ....
  55. pmc Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they were ava
    Anne L Langston
    Edinburgh Clinical Trials Unit, University of Edinburgh, Queens Medical Research Institute, Room E1, 16, 47 Little France Crescent, Edinburgh, EH16 4TJ, UK
    BMC Health Serv Res 8:116. 2008
    ..Illness representations are examined using Leventhal's Common Sense Self-Regulation Model while cognitions about treatment behaviours (acceptance of testing and treatment uptake) are conceptualised within the Theory of Planned Behaviour...
  56. pmc Regulation of bone mass, bone loss and osteoclast activity by cannabinoid receptors
    Aymen I Idris
    Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen AB25 2ZD, UK
    Nat Med 11:774-9. 2005
    ....
  57. pmc Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis
    Anna Taranta
    Istituto Dermopatico dell Immacolata, Rome, Italy
    Am J Pathol 162:57-68. 2003
    ..Bone marrow transplantation was successful in all patients, and posttransplant osteoclasts showed rescue of a3 subunit immunoreactivity...
  58. ncbi request reprint Genetic determinants of susceptibility to osteoporosis
    Omar M E Albagha
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Aberdeen AB25 2ZD, UK
    Endocrinol Metab Clin North Am 32:65-81, vi. 2003
    ....
  59. ncbi request reprint Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis
    John P A Ioannidis
    Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Greece
    J Bone Miner Res 17:2048-60. 2002
    ..In summary, we have found that XX homozygotes may have higher BMD and also a decreased risk of fractures when compared with carriers of the x allele, whereas the PvuII polymorphism is not associated with either BMD or fracture risk...
  60. ncbi request reprint Polymorphisms in the P450 c17 (17-hydroxylase/17,20-Lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopausal women
    John Somner
    Department of Chemical Pathology, St Thomas Hospital, London, SE1 7EH United Kingdom
    J Clin Endocrinol Metab 89:344-51. 2004
    ..012). Subjects with the CC genotype had significantly lower BMD (mean +/- SD: TT, 0.7 +/- 0.16; CC, 0.6 +/- 0.08 g/cm(2); P = 0.006). In conclusion, both CYP 17 and CYP 19 are candidate genes for osteoporosis in postmenopausal women...
  61. ncbi request reprint Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland
    Fabienne S Giraudeau
    Department of Discovery Genetics, GlaxoSmithKline Research and Development, New Frontiers Science Park, Harlow, United Kingdom
    J Bone Miner Res 19:31-41. 2004
    ..We present a thorough analysis of common CTSK polymorphisms and genetic relatedness among CTSK haplotypes...
  62. ncbi request reprint RUNX2 alleles associated with BMD in Scottish women; interaction of RUNX2 alleles with menopausal status and body mass index
    Tanya Vaughan
    School of Health Science, Griffith University Gold Coast Campus, 4215 Queensland, Australia
    Bone 34:1029-36. 2004
    ..Glutamine variants and an alanine insertion were identified within the group. These data suggest that the RUNX2 alleles are associated with BMD in a menopause- and weight-dependent manner...
  63. ncbi request reprint Regulation of bone mass and bone turnover by neuronal nitric oxide synthase
    Robert J van't Hof
    Bone Research Group, Institute of Medical Sciences, Department of Medicine and Therapeutics, Foresterhill, Aberdeen AB25 2ZD, United Kingdom
    Endocrinology 145:5068-74. 2004
    ..The low level of nNOS expression in bone and the in vitro behavior of nNOS KO bone cells indicate that these actions are indirect and possibly mediated by a neurogenic relay...
  64. ncbi request reprint Influence of LRP5 polymorphisms on normal variation in BMD
    M Audrey Koay
    Institute of Musculoskeletal Sciences, University of Oxford, The Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford, UK
    J Bone Miner Res 19:1619-27. 2004
    ....
  65. ncbi request reprint Identification of biphenylcarboxylic acid derivatives as a novel class of bone resorption inhibitors
    Rob J van 't Hof
    Bone Research Group, Department of Medicine and Therapeutics, Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK
    J Bone Miner Res 19:1651-60. 2004
    ..The compounds act by a novel mechanism that seems to be distinct from existing antiresorptive drugs...
  66. ncbi request reprint Genetic and environmental determinants of peak bone mass in young men and women
    Fiona E A McGuigan
    Aberdeen University, Scotland, UK
    J Bone Miner Res 17:1273-9. 2002
    ....
  67. ncbi request reprint Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study
    Stuart H Ralston
    Rheumatic Diseases Unit, University of Edinburgh Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK
    Hum Mol Genet 14:943-51. 2005
    ..This study provides evidence for gender-specific, site-specific and age-specific QTL, which regulate BMD in humans, and illustrates the importance of conducting subgroup analysis to detect these loci...
  68. ncbi request reprint Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent
    Gavin J A Lucas
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, United Kingdom
    J Bone Miner Res 20:227-31. 2005
    ..Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin...
  69. ncbi request reprint Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes
    John P A Ioannidis
    Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece
    JAMA 292:2105-14. 2004
    ..Estrogen receptor alpha (ESR1) is a candidate gene for osteoporosis, but previous studies of ESR1 polymorphisms in this field were hampered by small sample size, lack of standardization, and inconclusive results...
  70. ncbi request reprint Evolution of understanding of genetics of Paget's disease of bone and related diseases
    Shinjiro Takata
    Department of Orthopedics, The University of Tokushima School of Medicine, 3 18 15 Kuramoto cho, Tokushima, Japan
    J Bone Miner Metab 22:519-23. 2004
  71. ncbi request reprint Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women
    Omar M E Albagha
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, Aberdeen, UK
    Hum Mol Genet 11:2289-95. 2002
    ..In summary, our work supports the view that allelic variation in the 3'UTR of TNFRSF1B gene contributes to the genetic regulation of bone mass, with effects that are specific for femoral neck BMD...
  72. ncbi request reprint Increased bone resorption in the critically ill: association with sepsis and increased nitric oxide production
    Lorna M Smith
    Department of Medicine and Therapeutics, University of Aberdeen Medical School, Foresterhill Aberdeen, UK
    Crit Care Med 30:837-40. 2002
    ..In this study, we sought to determine whether nitric oxide generated as the result of sepsis was associated with suppression of bone resorption in vivo...
  73. pmc Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis
    Joyce B J van Meurs
    Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands
    JAMA 299:1277-90. 2008
    ..Mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene cause rare syndromes characterized by altered bone mineral density (BMD). More common LRP5 variants may affect osteoporosis risk in the general population...
  74. ncbi request reprint Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch
    Jed Long
    School of Chemistry, Centre for Biomolecular Sciences, University of Nottingham, Nottingham NG7 2RD, United Kingdom
    J Biol Chem 283:5427-40. 2008
    ..The conformational switch observed on binding may represent a novel mechanism that underlies specificity in regulating signalinduced protein recognition events...
  75. pmc ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta
    Thomas S Lisse
    Institute of Experimental Genetics, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
    PLoS Genet 4:e7. 2008
    ....
  76. ncbi request reprint Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease
    Lynne J Hocking
    Department of Medicine and Therapeutics, University of Aberdeen, UK
    Hum Mol Genet 11:2735-9. 2002
    ..0001). These studies confirm that mutations affecting the ubiquitin-binding domain of SQSTM1 are a common cause of familial and sporadic Paget's disease of bone...
  77. doi request reprint ABD56 causes osteoclast apoptosis by inhibiting the NFkappaB and ERK pathways
    Aymen I Idris
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, General Western Hospital, Edinburgh, EH4 2XU, UK
    Biochem Biophys Res Commun 371:94-8. 2008
    ....
  78. doi request reprint Juvenile Paget's disease, familial expansile osteolysis and other genetic osteolytic disorders
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, UK
    Best Pract Res Clin Rheumatol 22:101-11. 2008
    ..Anecdotal reports indicate that osteoclast inhibitors such as bisphosphonates are effective for suppressing bone turnover and improving symptoms in these disorders, although the long-term effects on clinical outcomes are unclear...
  79. ncbi request reprint The pro and con of measles virus in Paget's disease: con
    Bert K Rima
    J Bone Miner Res 17:2290-2; author reply 2293. 2002
  80. ncbi request reprint Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein
    Katrien Janssens
    Department of Medical Genetics, University of Antwerp, 2610 Antwerp, Belgium
    J Biol Chem 278:7718-24. 2003
    ..Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease...
  81. ncbi request reprint Genetics of osteoporosis
    Huilin Jin
    University of Aberdeen Medical School, Department of Medicine and Therapeutics, University of Aberdeen, AB25 2ZD, UK
    Curr Rheumatol Rep 7:66-70. 2005
    ....
  82. ncbi request reprint Genetics of Paget's disease of bone
    Anna Daroszewska
    Institute of Medical Sciences, University of Aberdeen Medical School, Aberdeen AB25 2ZD, UK
    Clin Sci (Lond) 109:257-63. 2005
    ....
  83. ncbi request reprint Polymorphisms of the CLCN7 gene are associated with BMD in women
    Ulrika Pettersson
    Bone Research Group, Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom
    J Bone Miner Res 20:1960-7. 2005
    ..Our study adds to accumulating evidence that shows that common allelic variants in monogenic bone disease genes often contribute to BMD regulation in normal subjects...
  84. ncbi request reprint Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin
    Anna Daroszewska
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, UK
    J Bone Miner Res 19:1506-11. 2004
    ..We found that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to both sporadic and familial PDB...
  85. ncbi request reprint Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences
    Lynne J Hocking
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, United Kingdom
    J Bone Miner Res 19:1122-7. 2004
    ..Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides...
  86. ncbi request reprint Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture
    Paul N Tasker
    Department of Medicine and Therapeutics, University of Aberdeen, Foresterhill, AB25 2ZD, Aberdeen, UK
    Osteoporos Int 15:903-8. 2004
    ....
  87. ncbi request reprint A mutation affecting the latency-associated peptide of TGFbeta1 in Camurati-Engelmann disease enhances osteoclast formation in vitro
    Neil W A McGowan
    Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom
    J Clin Endocrinol Metab 88:3321-6. 2003
    ..The activation of osteoclast activity noted here is consistent with clinical reports that have shown biochemical evidence of increased bone resorption as well as bone formation in CED...
  88. ncbi request reprint Multicenter blinded analysis of RT-PCR detection methods for paramyxoviruses in relation to Paget's disease of bone
    Stuart H Ralston
    Rheumatic Diseases Unit, School of Molecular and Clinical Medicine, University of Edinburgh, Edinburgh, UK
    J Bone Miner Res 22:569-77. 2007
    ....
  89. ncbi request reprint Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass
    John P A Ioannidis
    Department of Hygiene and Epidemology, University of Ioannina School of Medicine, Ioannina, Greece
    J Bone Miner Res 22:173-83. 2007
    ..Evidence was gained to suggest that several chromosomal loci regulate BMD in a site-specific and sex-specific manner...
  90. ncbi request reprint Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders
    Gavin J A Lucas
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, United Kingdom
    J Bone Miner Res 21:P31-7. 2006
    ..In light of the molecular defects that have been identified thus far, it seems likely that these genes will also be involved in the RANK-NF-kappaB signaling pathway or its interactions with the ubiquitin-proteasome system...
  91. doi request reprint Pathogenesis and management of Paget's disease of bone
    Stuart H Ralston
    Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
    Lancet 372:155-63. 2008
    ..No firm evidence as yet exists to show that bisphosphonates can prevent the development of complications of Paget's disease of bone, and further work is needed to address the effects of treatment on long-term clinical outcome...