Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype

Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found in affected members from six of nine families with idiopathic hyperphosphatasia. The severity of the phenotype was related to the predicted effects of the mutations on osteoprotegerin function.

[1]  L. Hofbauer,et al.  Osteoprotegerin deficiency and juvenile Paget's disease. , 2002, The New England journal of medicine.

[2]  I. Reid,et al.  A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. , 2002, Human molecular genetics.

[3]  E. Eriksen,et al.  Polymorphisms in the Osteoprotegerin Gene Are Associated With Osteoporotic Fractures , 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[4]  M. Whyte,et al.  Expansile Skeletal Hyperphosphatasia Is Caused by a 15‐Base Pair Tandem Duplication in TNFRSF11A Encoding RANK and Is Allelic to Familial Expansile Osteolysis , 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[5]  C. Costa.  A place on the map , 2001, The Lancet.

[6]  K. Koval.  Preoperative skin traction was not useful for hip fractures. , 2001, The Journal of bone and joint surgery. American volume.

[7]  P. Kostenuik,et al.  Osteoprotegerin Reverses Osteoporosis by Inhibiting Endosteal Osteoclasts and Prevents Vascular Calcification by Blocking a Process Resembling Osteoclastogenesis , 2000, The Journal of experimental medicine.

[8]  B. Tüysüz,et al.  Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment , 1999, Pediatric Radiology.

[9]  K Yano,et al.  Severe osteoporosis in mice lacking osteoclastogenesis inhibitory factor/osteoprotegerin. , 1998, Biochemical and biophysical research communications.

[10]  S. Morony,et al.  osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. , 1998, Genes & development.

[11]  S. Mochizuki,et al.  Identity of osteoclastogenesis inhibitory factor (OCIF) and osteoprotegerin (OPG): a mechanism by which OPG/OCIF inhibits osteoclastogenesis in vitro. , 1998, Endocrinology.

[12]  M. Goto,et al.  Characterization of Structural Domains of Human Osteoclastogenesis Inhibitory Factor* , 1998, The Journal of Biological Chemistry.

[13]  G Shimamoto,et al.  Osteoprotegerin: A Novel Secreted Protein Involved in the Regulation of Bone Density , 1997, Cell.

[14]  W. Reinus,et al.  Juvenile paget disease: Life‐long features of a mildly affected young woman , 1996, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[15]  E. Siris,et al.  Hereditary hyperphosphatasia: 20 year follow‐up and response to disodium etidronate , 1994, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[16]  K. Antoniades,et al.  Chronic idiopathic hyperphosphatasemia. Case report. , 1993, Oral surgery, oral medicine, and oral pathology.

[17]  D. Banner,et al.  Crystal structure of the soluble human 55 kd TNF receptor-human TNFβ complex: Implications for TNF receptor activation , 1993, Cell.

[18]  J. Heinrich,et al.  Familial idiopathic hyperphosphatasia (FIH): response to long-term treatment with pamidronate (APD). , 1992, Bone and mineral.

[19]  A. Berman,et al.  Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literature. , 1992, The Journal of rheumatology.

[20]  D. Topliss,et al.  Post-partum hypercalcemia in hereditary hyperphosphatasia (juvenile Paget’s disease) , 1991, Journal of endocrinological investigation.

[21]  R. Rosso,et al.  Chronic Idiopathic Hyoperphosphatasia and Fibrous Dysplasia in the Same child , 1989, Journal of pediatric orthopedics.

[22]  F. Kinsella,et al.  Visual impairment in a case of juvenile Paget's disease with pseudoxanthoma elasticum: an eleven year follow up. , 1989, Journal of pediatric ophthalmology and strabismus.

[23]  P. Delmas,et al.  Response to parathyroid hormone and 1,25-dihydroxyvitamin D3 of bone-derived cells isolated from normal children and children with abnormalities in skeletal development. , 1986, The Journal of clinical endocrinology and metabolism.

[24]  I. Beggs,et al.  Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up. , 1986, The Journal of bone and joint surgery. British volume.

[25]  Stephen M. Mount,et al.  A catalogue of splice junction sequences. , 1982, Nucleic acids research.

[26]  S. Yen,et al.  Endogenous opiates modulate pulsatile luteinizing hormone release in humans. , 1981, The Journal of clinical endocrinology and metabolism.

[27]  M. Rallison,et al.  Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. , 1979, AJR. American journal of roentgenology.

[28]  C. Mautalen,et al.  Familial idiopathic hyperphosphatasia: a study of two young siblings treated with porcine calcitonin. , 1977, The Journal of bone and joint surgery. British volume.

[29]  S. Mitsudo.  Chronic idiopathic hyperphosphatasia associated with pseudoxanthoma elasticum. , 1971, The Journal of bone and joint surgery. American volume.

[30]  G. Stemmermann.  An histologic and histochemical study of familial osteoectasia. (Chronic idiopathic hyperphosphatasia). , 1966, The American journal of pathology.

[31]  H. Bakwin,et al.  Fragile bones and macrocranium. , 1956, The Journal of pediatrics.

[32]  C. D. de Costa.  A place on the map. , 2001, Lancet.

[33]  L. Hocking,et al.  Evaluation of the role of RANK and OPG genes in Paget's disease of bone. , 2001, Bone.

[34]  A. Bereket,et al.  Effect of Alendronate Treatment on the Clinical Picture and Bone Turnover Markers in Chronic Idiopathic Hyperphosphatasia , 2000, Journal of pediatric endocrinology & metabolism : JPEM.

[35]  R. Wallace,et al.  Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis , 2000, Nature Genetics.

[36]  H. Neubert,et al.  Management of primary idiopathic hyperphosphatasemia with calcitonin , 1996, International Orthopaedics.

[37]  M. Eroğlu,et al.  Congenital hyperphosphatasia (juvenile Paget's disease). Eleven years follow-up of three sisters. , 1977, Annales de radiologie.

[38]  F. Doyle,et al.  Healing of the bones in juvenile Paget's disease treated by human calcitonin. , 1974, The British journal of radiology.