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Gene Review

HRPT1  -  hyperparathyroidism 1

Homo sapiens

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Disease relevance of HRPT1


Psychiatry related information on HRPT1


High impact information on HRPT1


Chemical compound and disease context of HRPT1


Biological context of HRPT1


Anatomical context of HRPT1


Associations of HRPT1 with chemical compounds


Physical interactions of HRPT1


Enzymatic interactions of HRPT1


Regulatory relationships of HRPT1


Other interactions of HRPT1

  • RESULTS: There was no difference in the activities of IMPDH and salvage pathway enzymes GPRT and HRPT as well as in intracellular GTP and ATP concentrations between the patients before switch to MMF and healthy controls [42].
  • 7 patients with malignant disease had PTH concentrations above 4.0 pmol/l, consistent with coexisting primary hyperparathyroidism [43].
  • Plasma PTHrP was detectable in 35 (88%) of 40 patients with solid tumours and 3 of 9 patients with haematological malignant disease; it was undetectable in 92% of patients with primary hyperparathyroidism [43].
  • We now show that the pathogenesis of MEN1-associated parathyroid lesions involves unmasking of a recessive mutation at the disease locus and that sporadic primary hyperparathyroidism shares the same mechanisms [44].
  • Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome [45].

Analytical, diagnostic and therapeutic context of HRPT1


  1. A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Ho, C., Conner, D.A., Pollak, M.R., Ladd, D.J., Kifor, O., Warren, H.B., Brown, E.M., Seidman, J.G., Seidman, C.E. Nat. Genet. (1995) [Pubmed]
  2. Reduced binding of [3H]1,25-dihydroxyvitamin D3 in the parathyroid glands of patients with renal failure. Korkor, A.B. N. Engl. J. Med. (1987) [Pubmed]
  3. Recurrent hyperparathyroidism from an autotransplanted parathyroid adenoma. Brennan, M.F., Brown, E.M., Marx, S.J., Spiegel, A.M., Broadus, A.E., Doppman, J.L., Webber, B., Aurbach, G.D. N. Engl. J. Med. (1978) [Pubmed]
  4. Multicellular origin of parathyroid "adenomas". Fialkow, P.J., Jackson, C.E., Block, M.A., Greenawald, K.A. N. Engl. J. Med. (1977) [Pubmed]
  5. Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. Brooks, M.H., Bell, N.H., Love, L., Stern, P.H., Orfei, E., Queener, S.F., Hamstra, A.J., DeLuca, H.F. N. Engl. J. Med. (1978) [Pubmed]
  6. Diagnostic tests in the evaluation of dementia. A prospective study of 200 elderly outpatients. Larson, E.B., Reifler, B.V., Sumi, S.M., Canfield, C.G., Chinn, N.M. Arch. Intern. Med. (1986) [Pubmed]
  7. Longitudinal studies of mild primary hyperparathyroidism. Ljunghall, S., Jakobsson, S., Joborn, C., Palmér, M., Rastad, J., Akerström, G. J. Bone Miner. Res. (1991) [Pubmed]
  8. Nutrition, mild hyperparathyroidism, and bone mineral density in young Japanese women. Nakamura, K., Ueno, K., Nishiwaki, T., Okuda, Y., Saito, T., Tsuchiya, Y., Yamamoto, M. Am. J. Clin. Nutr. (2005) [Pubmed]
  9. Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism. Margolin, D., Hammerstad, J., Orwoll, E., McClung, M., Calhoun, D. Neurology (1980) [Pubmed]
  10. Secondary hyperparathyroidism in a patient with eight parathyroid glands. Hines, O.J., Gordon, H.E. J. Clin. Endocrinol. Metab. (1998) [Pubmed]
  11. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Carpten, J.D., Robbins, C.M., Villablanca, A., Forsberg, L., Presciuttini, S., Bailey-Wilson, J., Simonds, W.F., Gillanders, E.M., Kennedy, A.M., Chen, J.D., Agarwal, S.K., Sood, R., Jones, M.P., Moses, T.Y., Haven, C., Petillo, D., Leotlela, P.D., Harding, B., Cameron, D., Pannett, A.A., Höög, A., Heath, H., James-Newton, L.A., Robinson, B., Zarbo, R.J., Cavaco, B.M., Wassif, W., Perrier, N.D., Rosen, I.B., Kristoffersson, U., Turnpenny, P.D., Farnebo, L.O., Besser, G.M., Jackson, C.E., Morreau, H., Trent, J.M., Thakker, R.V., Marx, S.J., Teh, B.T., Larsson, C., Hobbs, M.R. Nat. Genet. (2002) [Pubmed]
  12. A 10-year prospective study of primary hyperparathyroidism with or without parathyroid surgery. Silverberg, S.J., Shane, E., Jacobs, T.P., Siris, E., Bilezikian, J.P. N. Engl. J. Med. (1999) [Pubmed]
  13. Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. Sharer, N., Schwarz, M., Malone, G., Howarth, A., Painter, J., Super, M., Braganza, J. N. Engl. J. Med. (1998) [Pubmed]
  14. Short-term inhibition of parathyroid hormone secretion by a calcium-receptor agonist in patients with primary hyperparathyroidism. Silverberg, S.J., Bone, H.G., Marriott, T.B., Locker, F.G., Thys-Jacobs, S., Dziem, G., Kaatz, S., Sanguinetti, E.L., Bilezikian, J.P. N. Engl. J. Med. (1997) [Pubmed]
  15. Somatic mutation of the MEN1 gene in parathyroid tumours. Heppner, C., Kester, M.B., Agarwal, S.K., Debelenko, L.V., Emmert-Buck, M.R., Guru, S.C., Manickam, P., Olufemi, S.E., Skarulis, M.C., Doppman, J.L., Alexander, R.H., Kim, Y.S., Saggar, S.K., Lubensky, I.A., Zhuang, Z., Liotta, L.A., Chandrasekharappa, S.C., Collins, F.S., Spiegel, A.M., Burns, A.L., Marx, S.J. Nat. Genet. (1997) [Pubmed]
  16. Glucose tolerance and insulin secretion in patients with parathyroid disorders. Effect of serum calcium on insulin release. Yasuda, K., Hurukawa, Y., Okuyama, M., Kikuchi, M., Yoshinaga, K. N. Engl. J. Med. (1975) [Pubmed]
  17. Hypophosphatemia in hospitalized patients. Juan, D., Elrazak, M.A. JAMA (1979) [Pubmed]
  18. Pathogenesis of osteoporosis: concepts, conflicts, and prospects. Raisz, L.G. J. Clin. Invest. (2005) [Pubmed]
  19. Serum bone gamma carboxyglutamic acid-containing protein in primary hyperparathyroidism and in malignant hypercalcemia. Comparison with bone histomorphometry. Delmas, P.D., Demiaux, B., Malaval, L., Chapuy, M.C., Edouard, C., Meunier, P.J. J. Clin. Invest. (1986) [Pubmed]
  20. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Pollak, M.R., Chou, Y.H., Cerda, J.J., Steinmann, B., La Du, B.N., Seidman, J.G., Seidman, C.E. Nat. Genet. (1993) [Pubmed]
  21. Effect of parathyroidectomy on bone aluminum accumulation in chronic renal failure. Andress, D.L., Ott, S.M., Maloney, N.A., Sherrard, D.J. N. Engl. J. Med. (1985) [Pubmed]
  22. Effect of serum parathyroid hormone and bone marrow fibrosis on the response to erythropoietin in uremia. Rao, D.S., Shih, M.S., Mohini, R. N. Engl. J. Med. (1993) [Pubmed]
  23. Vitamin D receptor genotypes in primary hyperparathyroidism. Carling, T., Kindmark, A., Hellman, P., Lundgren, E., Ljunghall, S., Rastad, J., Akerström, G., Melhus, H. Nat. Med. (1995) [Pubmed]
  24. An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. Baggio, B., Gambaro, G., Marchini, F., Cicerello, E., Tenconi, R., Clementi, M., Borsatti, A. N. Engl. J. Med. (1986) [Pubmed]
  25. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Mathew, C.G., Chin, K.S., Easton, D.F., Thorpe, K., Carter, C., Liou, G.I., Fong, S.L., Bridges, C.D., Haak, H., Kruseman, A.C. Nature (1987) [Pubmed]
  26. Persistent hyperparathyroidism caused by incomplete parathyroid resection and a hyperfunctioning parathyroid autograft. Spiegel, A.M., Downs, R.W., Santora, A., Marx, S.J., Doppman, J., Shull, J. JAMA (1983) [Pubmed]
  27. Erythrocyte survival in chronic renal failure. Role of secondary hyperparathyroidism. Akmal, M., Telfer, N., Ansari, A.N., Massry, S.G. J. Clin. Invest. (1985) [Pubmed]
  28. Preoperative imaging of parathyroid glands with technetium-99m-labelled sestamibi and iodine-123 subtraction scanning in secondary hyperparathyroidism. Hindié, E., Urenã, P., Jeanguillaume, C., Mellière, D., Berthelot, J.M., Menoyo-Calonge, V., Chiappini-Briffa, D., Janin, A., Galle, P. Lancet (1999) [Pubmed]
  29. The importance of circulating 1,25-dihydroxyvitamin D in the pathogenesis of hypercalciuria and renal-stone formation in primary hyperparathyroidism. Broadus, A.E., Horst, R.L., Lang, R., Littledike, E.T., Rasmussen, H. N. Engl. J. Med. (1980) [Pubmed]
  30. Cimetidine and hyperparathyroidism. Palmer, F.J., Sawyers, T.M., Wierzbinski, S.J. N. Engl. J. Med. (1980) [Pubmed]
  31. Urinary cyclic AMP during surgery for primary hyperparathyroidism. Wray, H.L., Monchik, J.M., Earll, J.M. N. Engl. J. Med. (1981) [Pubmed]
  32. Is estrogen preferable to surgery for postmenopausal women with primary hyperparathyroidism? Coe, F.L., Favus, M.J., Parks, J.H. N. Engl. J. Med. (1986) [Pubmed]
  33. Influence of furosemide on parathyroid hormone levels in hyperparathyroidism. Petit, W.A., Henrich, J., Insogna, K.L., Mitnick, M.E., Broadus, A.E. N. Engl. J. Med. (1988) [Pubmed]
  34. Hypercalcemia with low-normal serum intact PTH: a novel presentation of primary hyperparathyroidism. Hollenberg, A.N., Arnold, A. Am. J. Med. (1991) [Pubmed]
  35. Serum gastrin concentration in chronic renal failure. Kes, P. Acta medica Croatica : c̆asopis Hravatske akademije medicinskih znanosti. (1992) [Pubmed]
  36. Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. Perrier, N.D., Villablanca, A., Larsson, C., Wong, M., Ituarte, P., Teh, B.T., Clark, O.H. World journal of surgery. (2002) [Pubmed]
  37. Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion. Sowa, H., Kaji, H., Kitazawa, R., Kitazawa, S., Tsukamoto, T., Yano, S., Tsukada, T., Canaff, L., Hendy, G.N., Sugimoto, T., Chihara, K. Cancer Res. (2004) [Pubmed]
  38. The enigma of hyperparathyroidism in hypophosphatemic rickets. Schmitt, C.P., Mehls, O. Pediatr. Nephrol. (2004) [Pubmed]
  39. Vasoactive and proliferative effects of parathyroid hormone and parathyroid hormone-related peptide on human vascular smooth muscle. Chadwick, D.R., Harrison, B.J., Chan, P., Chong, L., Peachell, P. The British journal of surgery. (2000) [Pubmed]
  40. GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism. Kebebew, E., Peng, M., Wong, M.G., Ginzinger, D., Duh, Q.Y., Clark, O.H. Surgery (2004) [Pubmed]
  41. Somatic mutations of the MEN1 gene and microsatellite instability in a case of tertiary hyperparathyroidism occurring during high phosphate therapy for acquired, hypophosphatemic osteomalacia. Sato, K., Obara, T., Yamazaki, K., Kanbe, M., Nakajima, K., Yamada, A., Yanagisawa, T., Kato, Y., Nishikawa, T., Takano, K. J. Clin. Endocrinol. Metab. (2001) [Pubmed]
  42. Activation of the purine salvage pathway in mononuclear cells of cardiac recipients treated with mycophenolate mofetil. Devyatko, E., Zuckermann, A., Bohdjalian, A., Roedler, S., Dunkler, D., Grimm, M., Weigel, G. Transplantation (2006) [Pubmed]
  43. Role of assays for parathyroid-hormone-related protein in investigation of hypercalcaemia. Ratcliffe, W.A., Hutchesson, A.C., Bundred, N.J., Ratcliffe, J.G. Lancet (1992) [Pubmed]
  44. Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. Byström, C., Larsson, C., Blomberg, C., Sandelin, K., Falkmer, U., Skogseid, B., Oberg, K., Werner, S., Nordenskjöld, M. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  45. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. Simonds, W.F., Robbins, C.M., Agarwal, S.K., Hendy, G.N., Carpten, J.D., Marx, S.J. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  46. Parathyroid autotransplantation in primary parathyroid hyperplasia. Wells, S.A., Ellis, G.J., Gunnells, J.C., Schneider, A.B., Sherwood, L.M. N. Engl. J. Med. (1976) [Pubmed]
  47. Substrate-product relation of 1-hydroxylase activity in primary hyperparathyroidism. LoCascio, V., Adami, S., Galvanini, G., Ferrari, M., Cominacini, L., Tartarotti, D. N. Engl. J. Med. (1985) [Pubmed]
  48. Relief of uremic pruritus with ultraviolet phototherapy. Gilchrest, B.A., Rowe, J.W., Brown, R.S., Steinman, T.I., Arndt, K.A. N. Engl. J. Med. (1977) [Pubmed]
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