Stuart H Ralston

Summary

Affiliation: University of Edinburgh
Country: UK

Publications

  1. doi request reprint Pathogenesis of Paget disease of bone
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, UK
    Calcif Tissue Int 91:97-113. 2012
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. doi request reprint Pathogenesis of Paget's disease of bone
    Stuart H Ralston
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
    Bone 43:819-25. 2008
  8. 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
  9. 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
  10. 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

Detail Information

Publications92

  1. doi request reprint Pathogenesis of Paget disease of bone
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, UK
    Calcif Tissue Int 91:97-113. 2012
    ....
  2. 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
    ....
  3. 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...
  4. 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...
  5. 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...
  6. 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
    ....
  7. doi request reprint Pathogenesis of Paget's disease of bone
    Stuart H Ralston
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK
    Bone 43:819-25. 2008
    ....
  8. 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...
  9. 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...
  10. 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
    ....
  11. 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...
  12. doi request reprint Genetics of osteoporosis
    Stuart H Ralston
    University of Edinburgh, Western General Hospital, Edinburgh, UK
    Ann N Y Acad Sci 1192:181-9. 2010
    ..Although there has been extensive progress in this area over the past 10 years, most of the genetic variants that regulate susceptibility to osteoporosis remain to be discovered...
  13. doi request reprint Genetics of osteoporosis
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Endocr Rev 31:629-62. 2010
    ..Although there has been extensive progress in identifying the genes and loci that contribute to the regulation of BMD and fracture over the past 15 yr, most of the genetic variants that regulate these phenotypes remain to be discovered...
  14. 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
    ....
  15. doi request reprint Genetic determinants of Paget's disease of bone
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, United Kingdom
    Ann N Y Acad Sci 1240:53-60. 2011
    ..These increase the risk of PDB individually by 1.3- to 1.7-fold, but have combined effects that account for about 86% of the population-attributable risk of PDB in SQSTM1 negative patients...
  16. doi request reprint Randomized trial of alendronate plus vitamin D3 versus standard care in osteoporotic postmenopausal women with vitamin D insufficiency
    Stuart H Ralston
    Rheumatic Diseases Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, UK
    Calcif Tissue Int 88:485-94. 2011
    ....
  17. doi request reprint Risk of upper gastrointestinal tract events in risedronate users switched to alendronate
    Stuart H Ralston
    Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, UK
    Calcif Tissue Int 87:298-304. 2010
    ..This could lead to reduced compliance and reduced therapeutic effectiveness, which might offset the cost savings of using the generic formulation...
  18. doi request reprint Identification of novel biphenyl carboxylic acid derivatives as novel antiresorptive agents that do not impair parathyroid hormone-induced bone formation
    Aymen I Idris
    Rheumatic Diseases Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom
    Endocrinology 150:5-13. 2009
    ....
  19. doi request reprint Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis
    Huilin Jin
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
    Hum Mol Genet 18:2729-38. 2009
    ..This is consistent with a model whereby increased COL1A1 transcription predisposes to osteoporosis, probably by increasing production of the alpha 1 chain and disrupting the normal ratio of collagen type 1 alpha 1 and alpha 2 chains...
  20. doi request reprint Genome-wide association identifies three new susceptibility loci for Paget's disease of bone
    Omar M E Albagha
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK
    Nat Genet 43:685-9. 2011
    ..40, P = 7.38 × 10(-17)) with PDB. These seven loci explained ∼13% of the familial risk of PDB. These studies provide new insights into the genetic architecture and pathophysiology of PDB...
  21. doi request reprint The TRPV1 ion channel antagonist capsazepine inhibits osteoclast and osteoblast differentiation in vitro and ovariectomy induced bone loss in vivo
    Aymen I Idris
    Bone Research Group, Institute of Genetic and Molecular Medicine, Molecular Medicine Centre, University of Edinburgh, General Western Hospital, Edinburgh, EH4 2XU, UK
    Bone 46:1089-99. 2010
    ..We conclude that pharmacological blockade of TRPV1 ion channels by capsazepine inhibits osteoclastic bone resorption and protects against ovariectomy induced bone loss in mice, but also inhibits osteoblast activity and bone formation...
  22. 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...
  23. doi request reprint The biphenyl-carboxylate derivative ABD328 is a novel orally active antiresorptive agent
    Aymen I Idris
    Rheumatic Diseases Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
    Calcif Tissue Int 87:525-32. 2010
    ..The results indicate that biphenyl carboxylates like ABD328 are oral candidate drugs for the treatment of diseases characterized by increased bone resorption, such as postmenopausal osteoporosis...
  24. doi request reprint The type 2 cannabinoid receptor regulates bone mass and ovariectomy-induced bone loss by affecting osteoblast differentiation and bone formation
    Antonia Sophocleous
    Rheumatic Diseases Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
    Endocrinology 152:2141-9. 2011
    ..These studies indicate that the CB2 regulates osteoblast differentiation in vitro and bone formation in vivo...
  25. doi request reprint Cannabinoid receptor type 1 protects against age-related osteoporosis by regulating osteoblast and adipocyte differentiation in marrow stromal cells
    Aymen I Idris
    Rheumatic Diseases Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
    Cell Metab 10:139-47. 2009
    ....
  26. 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
    ....
  27. doi request reprint Small molecule inhibitors of IkappaB kinase signaling inhibit osteoclast formation in vitro and prevent ovariectomy-induced bone loss in vivo
    Aymen I Idris
    Institute of Genetic and Molecular Medicine, University of Edinburgh, General Western Hospital, Edinburgh, UK
    FASEB J 24:4545-55. 2010
    ..Accordingly, IKK inhibitors may be of value in the prevention and treatment of bone diseases characterized by increased bone loss such as postmenopausal osteoporosis...
  28. doi request reprint Beta2-adrenoreceptor ligands regulate osteoclast differentiation in vitro by direct and indirect mechanisms
    Sarah J Aitken
    Rheumatic Diseases Unit, University of Edinburgh, Western General Hospital, Edinburgh, UK
    Arch Biochem Biophys 482:96-103. 2009
    ....
  29. doi request reprint Osteoporosis associated with neutralizing autoantibodies against osteoprotegerin
    Philip L Riches
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
    N Engl J Med 361:1459-65. 2009
    ....
  30. pmc Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone
    Omar M E Albagha
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK
    Nat Genet 42:520-4. 2010
    ..09 x 10(-13)) and with rs3018362 on 18q21 near the TNFRSF11A gene (P = 5.27 x 10(-13)). These studies provide new insights into the pathogenesis of PDB and identify OPTN, CSF1 and TNFRSF11A as candidate genes for disease susceptibility...
  31. doi request reprint LRP5 Polymorphisms and response to risedronate treatment in osteoporotic men
    Marcin Kruk
    Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, UK
    Calcif Tissue Int 84:171-9. 2009
    ..In conclusion, the LRP5 A1330V polymorphism is associated with hip BMD in osteoporotic men, but allelic variations in LRP5 do not appear to be associated with response to bisphosphonate treatment...
  32. 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...
  33. doi request reprint Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone
    Micaela Rios Visconti
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
    J Bone Miner Res 25:2368-73. 2010
    ....
  34. doi request reprint Cannabinoids and bone: friend or foe?
    Aymen I Idris
    Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Scotland, UK
    Calcif Tissue Int 87:285-97. 2010
    ..These data indicate that cannabinoid receptors and the enzymes responsible for ligand synthesis and breakdown play important roles in bone remodeling and in the pathogenesis of joint disease...
  35. doi request reprint Regulation of bone mass, osteoclast function, and ovariectomy-induced bone loss by the type 2 cannabinoid receptor
    Aymen I Idris
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
    Endocrinology 149:5619-26. 2008
    ....
  36. doi request reprint The nitrosylated flurbiprofen derivative HCT1026 inhibits cytokine-induced signalling through a novel mechanism of action
    Aymen I Idris
    Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, General Western Hospital, Edinburgh, UK
    Eur J Pharmacol 602:215-22. 2009
    ..As RANKL, TNF and IL1 are all important mediators of inflammation and joint destruction, compounds like HCT1026 could represent a novel class of anti-inflammatory compounds...
  37. doi request reprint Randomized trial of intensive bisphosphonate treatment versus symptomatic management in Paget's disease of bone
    Anne L Langston
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine University of Edinburgh, United Kingdom
    J Bone Miner Res 25:20-31. 2010
    ..Neither management strategy had a significant beneficial impact on pain or quality of life (Clinical trial registration number ISRCTN12989577)...
  38. doi request reprint Pharmacologic inhibitors of IkappaB kinase suppress growth and migration of mammary carcinosarcoma cells in vitro and prevent osteolytic bone metastasis in vivo
    Aymen I Idris
    Bone Research Group, Institute of Genetic and Molecular Medicine, University of Edinburgh, General Western Hospital, Edinburgh EH4 2XU, United Kingdom
    Mol Cancer Ther 8:2339-47. 2009
    ....
  39. doi request reprint Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy
    Philip L Riches
    Rheumatic Diseases Unit, Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK
    Calcif Tissue Int 83:272-5. 2008
    ..The long-term clinical effects of treatment on the natural history of the bone disease remain uncertain however, and this will require further study...
  40. doi request reprint A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice
    Anna Daroszewska
    Rheumatic Diseases Unit, University of Edinburgh, Edinburgh, UK
    Hum Mol Genet 20:2734-44. 2011
    ..These studies demonstrate that SQSTM1 mutations can cause a PDB-like skeletal disorder in the absence of an additional trigger and provide a new disease model for PDB...
  41. 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
    ....
  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. doi request reprint Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease
    Omar M E Albagha
    Rheumatic Diseases Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
    J Bone Miner Res 28:2338-46. 2013
    ..It is possible that with further refinement, genetic profiling may be of clinical value in identifying individuals at high risk of severe disease who might benefit from enhanced surveillance and early intervention...
  44. 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
  45. 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
    ....
  46. 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
    ....
  47. 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...
  48. doi request reprint Recent insights into the pathogenesis of hyperuricaemia and gout
    Philip L Riches
    Rheumatic Diseases Unit, University of Edinburgh, Edinburgh EH4 2XU, UK
    Hum Mol Genet 18:R177-84. 2009
    ....
  49. 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...
  50. ncbi request reprint Identification of a major locus for Paget's disease on chromosome 10p13 in families of British descent
    Gavin Ja Lucas
    Rheumatic Diseases Unit, University of Edinburgh, Edinburgh, United Kingdom
    J Bone Miner Res 23:58-63. 2008
    ..A major susceptibility locus for PDB was identified on chromosome 10p13 by a genome-wide linkage scan in families of British descent, which accounted for the vast majority of cases not caused by SQSTM1 mutations...
  51. doi request reprint Genetic background modifies the effects of type 2 cannabinoid receptor deficiency on bone mass and bone turnover
    Antonia Sophocleous
    Rheumatic Diseases Unit, Centre for Molecular Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK
    Calcif Tissue Int 94:259-68. 2014
    ..Further evaluation of the pathways responsible might yield new insights into the mechanisms by which cannabinoid receptors regulate bone metabolism. ..
  52. doi request reprint SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
    Veronique Vitart
    MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
    Nat Genet 40:437-42. 2008
    ..SLC2A9 is a known fructose transporter, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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...
  58. 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
    ....
  59. 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
    ....
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  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 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...
  66. 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...
  67. 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
    ....
  68. 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...
  69. 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...
  70. 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...
  71. 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...
  72. 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
    ....
  73. 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
    ....
  74. 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...
  75. 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...
  76. 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...
  77. 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...
  78. 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...
  79. 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
  80. 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...
  81. 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
    ....
  82. 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...
  83. 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
  84. 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...
  85. ncbi request reprint New developments in the search for genetic determinants of osteoarthritis
    Stuart H Ralston
    Osteoarthritis Cartilage 15:117-9. 2007
  86. 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
    ....
  87. 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...
  88. ncbi request reprint Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene
    Kiyoshi Nakatsuka
    Department of Endocrinology, Metabolism and Molecular Medicine, Osaka City University Graduate School of Medicine, Osaka, Japan
    J Bone Miner Res 18:1381-5. 2003
    ..A particularly striking feature was involvement of the mandible and maxilla, but it remains to be seen if this is a specific feature of the 75dup27 mutation until further kindreds with this mutation are reported...
  89. 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...
  90. 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...
  91. 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...
  92. 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...