Molecular genetics of parathyroid disease

World Journal of Surgery

Volumn 33, Issue 11, 2009, Pages 2224-2233

  Westin, Gunnar ^a   Björklund, Peyman ^a   Åkerström, Göran ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

BETA CATENIN; CALCIDIOL 1 MONOOXYGENASE; CALCITRIOL; CINACALCET; CYCLIN D1; FIBROBLAST GROWTH FACTOR 23; MESSENGER RNA; METHIONINE; PARAFIBROMIN; UNCLASSIFIED DRUG; VANILLOID RECEPTOR 5; VANILLOID RECEPTOR 6; WNT PROTEIN;

ALLELE; ARTICLE; CANCER RECURRENCE; CASR GENE; CCND1 GENE; GCM2 GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE INACTIVATION; GENE OVEREXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HRPT2 GENE; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY FAILURE; MEN1 GENE; MOLECULAR GENETICS; ONCOGENE; PARATHYROID ADENOMA; PARATHYROID DISEASE; PARATHYROID HYPERPLASIA; PRAD1 GENE; PRIMARY HYPERPARATHYROIDISM; RECURRENCE RISK; SOMATIC MUTATION;

ANIMALS; GENES, BCL-1; HUMANS; MICE; PARATHYROID DISEASES; PARATHYROID NEOPLASMS;

EID: 70350029364     PISSN: 03642313     EISSN: 14322323     Source Type: Journal    
DOI: 10.1007/s00268-009-0022-6     Document Type: Article

References (161)

1. E Lundgren J Rastad E Thurfjell, et al. 1997 Population-based screening for primary hyperparathyroidism with serum calcium and parathyroid hormone values in menopausal women Surgery 294 287 294
2. G Åkerström C Rudberg L Grimelius, et al. 1986 Histologic parathyroid abnormalities in an autopsy series Hum Pathol 7 520 527
3. LE Tisell S Carlsson M Fjalling, et al. 1985 Hyperparathyroidism subsequent to neck irradiation: risk factors Cancer 56 1529 1533 4027889 1:STN:280:DyaL2M3ot1Sisg%3D%3D
4. K Yoshimoto R Yamasaki H Sakai, et al. 1989 Ectopic production of parathyroid hormone by small cell lung cancer in a patient with hypercalcemia J Clin Endocrinol Metab 68 976 981 2541161 1:STN:280:DyaL1M3jsVCktA%3D%3D
5. SR Nussbaum RD Gaz A Arnold 1990 Hypercalcemia and ectopic secretion of parathyroid hormone by an ovarian carcinoma with rearrangement of the gene for parathyroid hormone N Engl J Med 323 1324 1328 2215618 1:STN:280: DyaK3M%2FhsFaktQ%3D%3D
6. GJ Strewler AA Budayr OH Clark A Nissenson 1993 Production of parathyroid hormone by a malignant nonparathyroid tumour in a hypercalcemic patient J Clin Endocrinol Metab 76 1373 1375 7684395 1:STN:280:DyaK3s3ms1Orsw%3D%3D
7. WT St Goar 1963 Case records of the Massachusetts General Hospital N Engl J Med 268 943 953
8. JF Smith 1970 Parathyroid adenomas associated with the malabsorption syndrome and chronic renal disease J Clin Pathol 23 362 369 5430425 1:STN:280:DyaE3c3jvFWksQ%3D%3D
9. Rastad J, Åkerström G (1994) Secondary hyperparathyroidism. In: Åkerström G, Juhlin C, Rastad J (eds) Current controversy in parathyroid operation and reoperation. Landes, Austin
10. WB McIntosh EH Horn LM Mathieson, et al. 1987 The prevalence, mechanism and clinical significance of lithium-induced hypercalcaemia Med Lab Sci 44 115 118 3695842 1:STN:280:DyaL1c%2FptlGrtA%3D%3D
11. J Toffaletti RB McComb GN Bowers 1979 Increase in dialyzable calcium associated with therapy with lithium Clin Chem 25 1806 1809 476930 1:CAS:528:DyaL3cXmtFY%3D
12. DL Sackett 1989 Rules of evidence and clinical recommendations on the use of antithrombotic agents Chest 95 Suppl 2 2s 4s 2914516 1:STN:280: DyaL1M7itVaquw%3D%3D
13. S Heinrich M Schafer V Rousson PA Clavien 2006 Evidence-based treatment of acute pancreatitis: a look at established paradigms Ann Surg 243 154 168 16432347
14. PJ Fialkow CE Jackson MA Block KA Greenwald 1977 Multicellular origin of parathyroid "adenomas" N Engl J Med 277 696 698
15. A Arnold CE Staunton HG Kim, et al. 1988 Monoclonality and abnormal parathyroid hormone genes in parathyroid adenomas N Engl J Med 318 658 662 3344017 1:STN:280:DyaL1c7ktlShtg%3D%3D
16. E Friedman K Sakaguchi AE Bale, et al. 1989 Clonality of parathyroid tumours in familial multiple endocrine neoplasia type 1 N Engl J Med 32 213 218
17. A Arnold MF Brown P Ureña, et al. 1995 Monoclonality of parathyroid tumours in chronic renal failure and in primary parathyroid hyperplasia J Clin Invest 95 2047 2053 7738171 1:CAS:528:DyaK2MXltlWrtrk%3D
18. Y Tominaga S Kohara Y Namii, et al. 1996 Clonal analysis of nodular parathyroid hyperplasia in renal hyperparathyroidism World J Surg 20 744 750 8678945 1:STN:280:DyaK28vislaitQ%3D%3D
19. A Arnold 1993 Genetic basis of endocrine disease. 5. Molecular genetics of parathyroid gland neoplasia J Clin Endocrinol Metab 77 1108 1112 8077300 1:CAS:528:DyaK2cXltFamtw%3D%3D
20. G Åkerström 1997 Non-familial primary hyperparathyroidism Semin Surg Oncol 13 104 113 9088066
21. C Wallfelt E Gylfe R Larsson, et al. 1988 Relationship between external and cytoplasmic calcium concentrations, parathyroid hormone release and weight of parathyroid glands in human hyperparathyroidism J Endocrinol 16 457 464
22. P Nygren R Larsson H Johansson, et al. 1988 Inhibition of cell growth retains the differentiated function of bovine parathyroid cells in monolayer culture Bone Miner 4 123 132 3191276 1:CAS:528:DyaL1cXkvVKlu7Y%3D
23. MS LeBoff D Shoback EM Brown, et al. 1985 Regulation of parathyroid hormone release and cytosolic calcium by extracellular calcium in dispersed and cultured bovine and pathological human parathyroid cells J Clin Invest 75 49 57 3965511 1:CAS:528:DyaL2MXptVCitw%3D%3D
24. CH Wallfelt R Larsson E Gylfe, et al. 1988 Secretory disturbance in hyperplastic parathyroid nodules of uremic hyperparathyroidism: implication for parathyroid autotransplantation World J Surg 12 431 438 3420928 1:STN:280:DyaL1czjslOqsw%3D%3D
25. HC Mun A Conigrave M Wilkinson L Delbridge 2005 Surgery for hyperparathyroidism: does morphology or function matter most? Surgery 138 1111 1120 16360398
26. EM Brown 2007 Clinical lessons from the calcium-sensing receptor Nat Clin Pract Endocrinol Metab 3 122 133 17237839 1:CAS:528:DC%2BD2sXhvVWrsLg%3D
27. J Tfelt-Hansen EM Brown 2005 The calcium-sensing receptor in normal physiology and pathophysiology: a review Clin Rev Clin Lab Sci 42 35 70 1:CAS:528:DC%2BD2cXhtFSnsbrE
28. A Arnold HG Kim RD Gaz, et al. 1989 Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma J Clin Invest 83 2034 2040 2723071 1:CAS:528:DyaL1MXktlCmtbg%3D
29. T Motokura T Bloom HG Kim, et al. 1991 A novel cyclin encoded by a bcl1-linked candidate oncogene Nature 350 512 515 1826542 1:CAS:528: DyaK3MXlslKgsbo%3D
30. Y Yi NJ Nowak AL Pacchia C Morrison 2008 Chromosome 11 genomic changes in parathyroid adenoma and hyperplasia: array CGH, FISH, and tissue microarrays Genes Chromosomes Cancer 47 639 648 18398822 1:CAS:528:DC%2BD1cXnslWktb8%3D
31. ED Hsi LR Zukerberg WI Yang A Arnold 1996 Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study J Clin Endocrinol Metab 81 1736 1739 8626826 1:CAS:528:DyaK28XjtVShsLg%3D
32. Y Tominaga T Tsuzuki K Uchida, et al. 1999 Expression of PRAD1/cyclin D1, retinoblastoma gene products, and Ki67 in parathyroid hyperplasia caused by chronic renal failure versus primary adenoma Kidney Int 55 1375 1383 10201002 1:STN:280:DyaK1M3hslSmuw%3D%3D
33. MA Vasef RK Brynes M Sturm, et al. 1999 Expression of cyclin D1 in parathyroid carcinomas, adenomas, and hyperplasias: a paraffin immunohistochemical study Mod Pathol 12 412 416 10229506 1:STN:280: DyaK1M3ksVGisA%3D%3D
34. JD Carpten CM Robbins A Villablanca, et al. 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumour syndrome Nat Genet 32 676 680 12434154 1:CAS:528:DC%2BD38XptVShurk%3D
35. GE Woodard L Lin JH Zhang, et al. 2005 Parafibromin, product of the hyperparathyroidism-jaw tumour syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression Oncogene 24 1272 1276 15580289 1:CAS:528:DC%2BD2MXhtFGqs70%3D
36. SM Mallya JJ Gallagher YK Wild, et al. 2005 Abnormal parathyroid cell proliferation precedes biochemical abnormalities in a mouse model of primary hyperparathyroidism Mol Endocrinol 19 2603 2609 15928311 1:CAS:528: DC%2BD2MXhtFWju7jJ
37. Y Imanishi Y Hosokawa K Yoshimoto, et al. 2001 Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice J Clin Invest 107 1093 1102 11342573 1:CAS:528: DC%2BD3MXjsVCjtb4%3D
38. F Farnebo U Enberg L Grimelius, et al. 1997 Tumour-specific decreased expression of calcium sensing receptor messenger ribonucleic acid in sporadic primary hyperparathyroidism J Clin Endocrinol Metab 82 3481 3486 9329389 1:CAS:528:DyaK2sXmslOhtrk%3D
39. J Gogusev P Duchambon B Hory, et al. 1997 Depressed expression of calcium receptor in parathyroid gland tissue of patients with hyperparathyroidism Kidney Int 51 328 336 8995751 1:STN:280:DyaK2s7kvV2htA%3D%3D
40. F Cetani A Picone P Cerrai, et al. 2000 Parathyroid expression of calcium-sensing receptor protein and in vivo parathyroid hormone-Ca(2+) set-point in patients with primary hyperparathyroidism J Clin Endocrinol Metab 85 4789 4794 11134144 1:CAS:528:DC%2BD3MXis1Cquw%3D%3D
41. S Corbetta G Mantovani A Lania, et al. 2000 Calcium-sensing receptor expression and signalling in human parathyroid adenomas and primary hyperplasia Clin Endocrinol (Oxf) 52 339 348 1:CAS:528:DC%2BD3cXisl2mu70%3D
42. S Waller T Kurzawinski L Spitz, et al. 2004 Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy Eur J Pediatr 163 589 594 15241688 1:CAS:528: DC%2BD2cXotVyrurk%3D
43. S Fukumoto N Chikatsu R Okazaki, et al. 2001 Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia Diagn Mol Pathol 10 242 247 11763315 1:STN:280:DC%2BD38%2FjsF2nsA%3D%3D
44. OI Egbuna EM Brown 2008 Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations Best Pract Res Clin Rheumatol 22 129 148 18328986 1:CAS:528:DC%2BD1cXjtVWgsLs%3D
45. T Carling E Szabo M Bai, et al. 2000 Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor J Clin Endocrinol Metab 85 2042 2047 10843194 1:CAS:528: DC%2BD3cXlt1Wlt70%3D
46. E Szabo T Carling O Hessman, et al. 2002 Loss of heterozygosity in parathyroid glands of familial hypercalcemia with hypercalciuria and point mutation in calcium receptor J Clin Endocrinol Metab 87 3961 3965 12161540 1:CAS:528:DC%2BD38XmtF2gurw%3D
47. Y Hosokawa MR Pollak EM Brown A Arnold 1995 Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumours J Clin Endocrinol Metab 80 3107 3110 7593409 1:CAS:528:DyaK2MXptleit7Y%3D
48. S Degenhardt A Toell W Weidemann, et al. 1998 Point mutations of the human parathyroid calcium receptor gene are not responsible for non-suppressible renal hyperparathyroidism Kidney Int 53 556 561 9507199 1:CAS:528: DyaK1cXhs1Sis7w%3D
49. F Cetani A Pinchera E Pardi, et al. 1999 No evidence for mutations in the calcium-sensing receptor gene in sporadic parathyroid adenomas J Bone Miner Res 14 878 882 10352095 1:CAS:528:DyaK1MXjvFKqtb8%3D
50. EF Nemeth ME Steffey LG Hammerland, et al. 1998 Calcimimetics with potent and selective activity on the parathyroid calcium receptor Proc Natl Acad Sci USA 95 4040 4045 9520489 1:CAS:528:DyaK1cXitlKisrk%3D
51. R Trivedi A Mithal N Chattopadhyay 2008 Recent updates on the calcium-sensing receptor as a drug target Curr Med Chem 15 178 186 18220773 1:CAS:528:DC%2BD1cXnsVyisro%3D
52. GM Chertow LB Pupim GA Block, et al. 2007 Evaluation of Cinacalcet Therapy to Lower Cardiovascular Events (EVOLVE): rationale and design overview Clin J Am Soc Nephrol 2 898 905 17702710 1:CAS:528:DC%2BD2sXhsVGqt7zE
53. T Günther ZF Chen J Kim, et al. 2000 Genetic ablation of parathyroid glands reveals another source of parathyroid hormone Nature 406 199 203 10910362
54. L Canaff X Zhou I Mosesova, et al. 2009 Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism Hum Mutat 30 85 92 18712808 1:CAS:528:DC%2BD1MXivFygsbo%3D
55. P Correa G Akerström G Westin 2002 Underexpression of Gcm2, a master regulatory gene of parathyroid gland development, in adenomas of primary hyperparathyroidism Clin Endocrinol (Oxf) 57 501 505 1:CAS:528: DC%2BD38XotlGgsbk%3D
56. E Kebebew M Peng MG Wong, et al. 2004 GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism Surgery 136 1261 1266 15657585
57. T Carling A Kindmark P Hellman, et al. 1995 Vitamin D receptor genotypes in primary hyperparathyroidism Nat Med 12 1309 1311
58. T Carling J Rastad G Akerstrom G Westin 1998 Vitamin D receptor (VDR) and parathyroid hormone messenger ribonucleic acid levels correspond to polymorphic VDR alleles in human parathyroid tumors J Clin Endocrinol Metab 83 2255 2259 9661591 1:CAS:528:DyaK1cXksVSjtbw%3D
59. EH Samander A Arnold 2006 Mutational analysis of the vitamin D receptor does not support its candidacy as a tumour suppressor gene in parathyroid adenomas J Clin Endocrinol Metab 91 5019 5021 17003089 1:CAS:528: DC%2BD28XhtlGru7rE
60. T Carling J Rastad E Szabó, et al. 2000 Reduced parathyroid vitamin D receptor messenger ribonucleic acid levels in primary and secondary hyperparathyroidism J Clin Endocrinol Metab 85 2000 2003 10843188 1:CAS:528:DC%2BD3cXlt1Wltrk%3D
61. D Sudhaker Rao ZH Han ER Phillips, et al. 2000 Reduced vitamin D receptor expression in parathyroid adenomas: implications for pathogenesis Clin Endocrinol (Oxf) 53 373 381 1:STN:280:DC%2BD3cvot1SgtQ%3D%3D
62. P Correa G Akerstrom G Westin 2002 Exclusive underexpression of vitamin D receptor exon 1f transcripts in tumors of primary hyperparathyroidism Eur J Endocrinol 147 671 675 12444900 1:CAS:528:DC%2BD38XpsVags78%3D
63. 3-1alpha-hydroxylase expression in normal and pathological parathyroid glands J Clin Endocrinol Metab 87 2967 2972 12050281 1:CAS:528:DC%2BD38XkvFCjs7Y%3D
64. 3 24-hydroxylase expression in parathyroid tumors: new prospects for treatment of hyperparathyroidism with vitamin D J Clin Endocrinol Metab 87 5826 5829 12466393 1:CAS:528:DC%2BD38XpslWms78%3D
65. U Segersten P Björklund P Hellman, et al. 2007 Potentiating effects of nonactive/active vitamin D analogues and ketoconazole in parathyroid cells Clin Endocrinol (Oxf) 66 399 404 1:CAS:528:DC%2BD2sXksVaksb4%3D
66. R Kilav J Silver T Naveh-Many 2001 A conserved cis-acting element in the parathyroid hormone 3′-untranslated region is sufficient for regulation of RNA stability by calcium and phosphate J Biol Chem 276 8727 8733 11118432 1:CAS:528:DC%2BD3MXisVCnsbc%3D
67. J Costa-Guda K Lauter T Naveh-Many, et al. 2006 Mutational analysis of the PTH 3′-untranslated region in parathyroid disorders Clin Endocrinol (Oxf) 65 806 809 1:CAS:528:DC%2BD2sXptVWgtg%3D%3D
68. SC Chandrasekharappa SC Guru P Manickam, et al. 1997 Positional cloning of the gene for multiple endocrine neoplasia-type 1 Science 276 404 407 9103196 1:CAS:528:DyaK2sXis1Khu7k%3D
69. I Lemmens WJ Van de Ven K Kas CX Zhang, et al. 1997 Identification of the multiple endocrine neoplasia type 1 (MEN1) gene: the European Consortium on MEN1 Hum Mol Genet 6 1177 1183 9215690 1:CAS:528:DyaK2sXksVSqtbY%3D
70. SJ Marx 2005 Molecular genetics of multiple endocrine neoplasia types 1 and 2 Nat Rev Cancer 5 367 375 15864278 1:CAS:528:DC%2BD2MXjslertbo%3D
71. C Heppner MB Kester SK Agarwal, et al. 1997 Somatic mutation of the MEN1 gene in parathyroid tumours Nat Genet 16 375 378 9241276 1:CAS:528: DyaK2sXkvFChtrg%3D
72. T Carling P Correa O Hessman, et al. 1998 Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism J Clin Endocrinol Metab 83 2960 2963 9709976 1:CAS:528:DyaK1cXltlaitb8%3D
73. F Farnebo BT Teh S Kytölä, et al. 1998 Alterations of the MEN1 gene in sporadic parathyroid tumours J Clin Endocrinol Metab 83 2627 2630 9709922 1:CAS:528:DyaK1cXltlWntL4%3D
74. W Karges K Jostarndt S Maier, et al. 2000 Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region J Endocrinol 166 1 9 10856877 1:CAS:528:DC%2BD3cXkvVynsLs%3D
75. S Miedlich K Krohn P Lamesch, et al. 2000 Frequency of somatic MEN1 gene mutations in monoclonal parathyroid tumours of patients with primary hyperparathyroidism Eur J Endocrinol 143 47 54 10870030 1:CAS:528: DC%2BD3cXlt1agur8%3D
76. S Uchino S Noguchi M Sato, et al. 2000 Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumours Cancer Res 60 5553 5557 11034102 1:CAS:528:DC%2BD3cXns1eht7Y%3D
77. F Cetani E Pardi E Vignali, et al. 2002 MEN1 gene alterations do not correlate with the phenotype of sporadic primary hyperparathyroidism J Endocrinol Invest 25 508 512 12109621 1:CAS:528:DC%2BD38Xls1aqtL8%3D
78. P Correa C Juhlin J Rastad, et al. 2002 Allelic loss in clinically and screening-detected primary hyperparathyroidism Clin Endocrinol (Oxf) 56 113 117 1:CAS:528:DC%2BD38XitVShsLY%3D
79. C Tanaka S Uchino S Noguchi, et al. 2002 Biallelic inactivation by somatic mutations of the MEN1 gene in sporadic parathyroid tumours Cancer Lett 175 175 179 11741745 1:CAS:528:DC%2BD3MXovF2ju7s%3D
80. A Falchetti AE Bale A Amorosi, et al. 1993 Progression of uremic hyperparathyroidism involves allelic loss on chromosome 11 J Clin Endocrinol Metab 76 139 144 8421078 1:STN:280:DyaK3s7jt1Wmsw%3D%3D
81. F Farnebo LO Farnebo J Nordenström C Larsson 1997 Allelic loss on chromosome 11 is uncommon in parathyroid glands of patients with hypercalcaemic secondary hyperparathyroidism Eur J Surg 163 331 337 9195165 1:STN:280:DyaK2szjvVKjtw%3D%3D
82. H Tahara Y Imanishi T Yamada, et al. 2000 Rare somatic inactivation of the multiple endocrine neoplasia type 1 gene in secondary hyperparathyroidism of uremia J Clin Endocrinol Metab 85 4113 4117 11095441 1:CAS:528: DC%2BD3cXotlWnur8%3D
83. L Forsberg A Villablanca S Välimäki, et al. 2001 Homozygous inactivation of the MEN1 gene as a specific somatic event in a case of secondary hyperparathyroidism Eur J Endocrinol 145 415 420 11580998 1:CAS:528: DC%2BD3MXns1Gjurc%3D
84. SK Libutti JS Crabtree D Lorang, et al. 2003 Parathyroid gland-specific deletion of the mouse MEN1 gene results in parathyroid neoplasia and hypercalcemic hyperparathyroidism Cancer Res 63 8022 8028 14633735 1:CAS:528:DC%2BD3sXptFOltbo%3D
85. MC Lemos RV Thakker 2008 Multiple endocrine neoplasia type 1 (MEN 1): analysis of 1336 mutations reported in the first decade following identification of the gene Hum Mutat 29 22 32 17879353 1:CAS:528:DC%2BD1cXhslOltrc%3D
86. K Balogh K Rácz A Patócs L Hunyady 2006 Menin and its interacting proteins: elucidation of menin function Trends Endocrinol Metab 17 357 364 16997566 1:CAS:528:DC%2BD28XhtFWjurzF
87. KM Dreijerink JW Höppener HM Timmers CJ Lips 2006 Mechanisms of disease: multiple endocrine neoplasia type 1: relation to chromatin modifications and transcription regulation Nat Clin Pract Endocrinol Metab 2 562 570 17024155 1:CAS:528:DC%2BD28XhtFKqtbzN
88. SK Agarwal SC Guru C Heppner, et al. 1999 Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription Cell 96 143 152 9989505 1:CAS:528:DyaK1MXmslansA%3D%3D
89. AE Gobl M Berg JR Lopez-Egido, et al. 1999 Menin represses JunD-activated transcription by a histone deacetylase-dependent mechanism Biochim Biophys Acta 1447 51 56 10500243 1:CAS:528:DyaK1MXmtVymsbc%3D
90. SK Agarwal EA Novotny JS Crabtree, et al. 2003 Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter Proc Natl Acad Sci USA 100 10770 10775 12960363 1:CAS:528:DC%2BD3sXnslyntrs%3D
91. H Kim JE Lee EJ Cho, et al. 2003 Menin, a tumour suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex Cancer Res 63 6135 6139 14559791 1:CAS:528: DC%2BD3sXotV2jtLk%3D
92. H Kaji L Canaff JJ Lebrun, et al. 2001 Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signalling Proc Natl Acad Sci USA 98 3837 3842 11274402 1:CAS:528: DC%2BD3MXis1Khsrc%3D
93. TM Shattuck J Costa M Bernstein, et al. 2002 Mutational analysis of Smad3, a candidate tumour suppressor implicated in TGF-beta and menin pathways, in parathyroid adenomas and enteropancreatic endocrine tumours J Clin Endocrinol Metab 87 3911 3914 12161532 1:CAS:528:DC%2BD38XmtF2gtbo%3D
94. C Heppner KY Bilimoria SK Agarwal, et al. 2001 The tumour suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation Oncogene 20 4917 4925 11526476 1:CAS:528:DC%2BD3MXmtlCksrw%3D
95. S Corbetta L Vicentini S Ferrero, et al. 2005 Activity and function of the nuclear factor kappaB pathway in human parathyroid tumours Endocr Relat Cancer 12 929 937 16322332 1:CAS:528:DC%2BD28XnvVyisw%3D%3D
96. CM Hughes O Rozenblatt-Rosen TA Milne, et al. 2004 Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus Mol Cell 13 587 597 14992727 1:CAS:528:DC%2BD2cXitV2gtr0%3D
97. TA Milne CM Hughes R Lloyd, et al. 2005 Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors Proc Natl Acad Sci USA 102 749 754 15640349 1:CAS:528:DC%2BD2MXis1CqsLo%3D
98. SK Karnik CM Hughes X Gu, et al. 2005 Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c Proc Natl Acad Sci USA 102 14659 14664 16195383 1:CAS:528:DC%2BD2MXhtFKjsb7N
99. PC Buchwald G Akerström G Westin 2004 Reduced p18INK4c, p21CIP1/WAF1 and p27KIP1 mRNA levels in tumours of primary and secondary hyperparathyroidism Clin Endocrinol (Oxf) 60 389 393 1:CAS:528:DC%2BD2cXislKlsbk%3D
100. D Lindberg G Åkerström G Westin 2008 Evaluation of CDKN2C/p18, CDKN1B/p27 and CDKN2B/p15 mRNA expression, and CpG methylation status in sporadic and MEN1-associated pancreatic endocrine tumours Clin Endocrinol (Oxf) 68 271 277 1:CAS:528:DC%2BD1cXjsFemt7Y%3D
101. D Lindberg G Åkerström G Westin 2007 Mutational analysis of p27 (CDKN1B) and p18 (CDKN2C) in sporadic pancreatic endocrine tumours argues against tumour-suppressor function Neoplasia 9 533 535 17710155 1:CAS:528:DC%2BD2sXptlKrtbs%3D
102. KB Lauter A Arnold 2008 Mutational analysis of CDKN1B, a candidate tumour-suppressor gene, in refractory secondary/tertiary hyperparathyroidism Kidney Int 73 1137 1140 18288099 1:CAS:528:DC%2BD1cXltlGisrc%3D
103. A Yokoyama TC Somervaille KS Smith, et al. 2005 The menin tumour suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis Cell 123 207 218 16239140 1:CAS:528:DC%2BD2MXhtFOqsbbP
104. HC Shen JE Rosen LM Yang, et al. 2008 Parathyroid tumour development involves deregulation of homeobox genes Endocr Relat Cancer 15 267 275 18310293 1:CAS:528:DC%2BD1cXkslKnu70%3D
105. F Willeke MP Hauer R Buchcik, et al. 1998 Multiple endocrine neoplasia type 2-associated RET proto-oncogene mutations do not contribute to the pathogenesis of sporadic parathyroid tumours Surgery 124 484 490 9736899 1:STN:280:DyaK1cvgvVWjtA%3D%3D
106. P Polakis 2007 The many ways of Wnt in cancer Curr Opin Genet Dev 17 45 51 17208432 1:CAS:528:DC%2BD2sXnslOnsw%3D%3D
107. P Björklund G Åkerström G Westin 2007 Accumulation of nonphosphorylated β-catenin and c-myc in primary and uremic secondary hyperparathyroid tumours J Clin Endocrinol Metab 92 338 344 17047023
108. P Björklund D Lindberg G Åkerström G Westin 2008 Stabilizing mutation of CTNNB1/β-catenin in a large series of parathyroid tumours of Swedish patients Mol Cancer 7 53 18541010
109. J Costa-Guda A Arnold 2007 Absence of stabilizing mutations of beta-catenin encoded by CTNNB1 exon 3 in a large series of sporadic parathyroid adenomas J Clin Endocrinol Metab 92 1564 1566 17284619 1:CAS:528: DC%2BD2sXksVSrur4%3D
110. P Björklund G Åkerström G Westin 2007 A LPR5 receptor with internal deletion in hyperparathyroid tumours with implications for deregulated Wnt/β-catenin signalling PLoS Med 4 e328 18044981
111. P Björklund G Åkerström G Westin 2007 Activated beta-catenin in the novel human parathyroid tumour cell line sHPT-1 Biochem Biophys Res Commun 352 532 536 17126301
112. O Rozenblatt-Rosen CM Hughes SJ Nannnepaga, et al. 2005 The parafibromin tumour suppressor protein is part of a human Paf1 complex Mol Cell Biol 25 612 620 15632063 1:CAS:528:DC%2BD2MXmtVKitg%3D%3D
113. MH Tan C Morrison P Wang, et al. 2004 Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma Clin Cancer Res 10 6629 6637 15475453 1:CAS:528:DC%2BD2cXot1Oiu7s%3D
114. T Dwight AE Nelson G Theodosopoulos, et al. 2002 Independent genetic events associated with the development of multiple parathyroid tumors in patients with primary hyperparathyroidism Am J Pathol 161 1299 1306 12368203 1:CAS:528:DC%2BD38Xotl2js70%3D
115. G Åkerström P Hellman 2003 Primary hyperparathyroidism Curr Opin Oncol 16 1 7
116. F Farnebo BT Teh C Dotzenrath, et al. 1997 Differential loss of heterozygosity in familial, sporadic, and uremic hyperparathyroidism Hum Genet 99 342 349 9050920 1:CAS:528:DyaK2sXitFSntr0%3D
117. J Chudek E Ritz G Kovacs 1998 Genetic abnormalities in parathyroid nodules of uremic patients Clin Cancer Res 4 211 214 9516973 1:STN:280:DyaK1c7nslKitQ%3D%3D
118. A Nagy J Chudek G Kovacs 2001 Accumulation of allelic changes at chromosomes 7p, 18q, and 2 in parathyroid lesions of uremic patients Lab Invest 81 527 533 11304572 1:CAS:528:DC%2BD3MXjsFSisLk%3D
119. Y Imanishi H Tahara N Palanisamy, et al. 2002 Clonal chromosomal defects in the molecular pathogenesis of refractory hyperparathyroidism of uremia J Am Soc Nephrol 13 1490 1498 12039978 1:CAS:528:DC%2BD38XkvFelsrY%3D
120. F Farnebo S Kytola BT Teh, et al. 1999 Alternative genetic pathways in parathyroid tumourigenesis J Clin Endocrinol Metab 84 3775 3780 10523029 1:CAS:528:DyaK1MXms1Ohu70%3D
121. CJ Haven VM Howell PH Eilers, et al. 2004 Gene expression of parathyroid tumours: molecular subclassification and identification of the potential malignant phenotype Cancer Res 64 7405 7411 15492263 1:CAS:528: DC%2BD2cXosFyntbo%3D
122. C Morrison W Farrar J Kneile, et al. 2004 Molecular classification of parathyroid neoplasia by gene expression profiling Am J Pathol 165 565 576 15277230 1:CAS:528:DC%2BD2cXmvFWjsrk%3D
123. L Forsberg E Björck J Hashemi, et al. 2005 Distinction in gene expression profiles demonstrated in parathyroid adenomas by high-density oligoarray technology Eur J Endocrinol 152 459 470 15757864 1:CAS:528: DC%2BD2MXivVCksrg%3D
124. JE Rosen NG Costouros D Lorang, et al. 2005 Gland size is associated with changes in gene expression profiles in sporadic parathyroid adenomas Ann Surg Oncol 12 412 416 15915376
125. D Velázquez-Fernández C Laurell M Saqui-Salces, et al. 2006 Differential RNA expression profile by cDNA microarray in sporadic primary hyperparathyroidism (pHPT): primary parathyroid hyperplasia versus adenoma World J Surg 30 705 713 16680586
126. PP Schachter S Ayesh I Matouk, et al. 2007 Differential expression of kinase genes in primary hyperparathyroidism: adenoma versus normal and hyperplastic parathyroid tissue Arch Pathol Lab Med 131 126 130 17227113 1:CAS:528:DC%2BD2sXhsVOmu7Y%3D
127. M Kuro-o Y Matsumura H Aizawa, et al. 1997 Mutation of the mouse klotho gene leads to a syndrome resembling ageing Nature 390 45 51 9363890 1:CAS:528:DyaK2sXnt1Cnu70%3D
128. H Sugiura T Yoshida K Tsuchiya, et al. 2005 Klotho reduces apoptosis in experimental ischaemic acute renal failure Nephrol Dial Transplant 20 2636 2645 16204278 1:CAS:528:DC%2BD2MXht1entLvM
129. M Ikushima H Rakugi K Ishikawa, et al. 2006 Anti-apoptotic and anti-senescence effects of Klotho on vascular endothelial cells Biochem Biophys Res Commun 339 827 832 16325773 1:CAS:528:DC%2BD2MXhtlajtLjE
130. D Medici MS Razzaque S Deluca, et al. 2008 FGF-23-Klotho signalling stimulates proliferation and prevents vitamin D-induced apoptosis J Cell Biol 182 459 465 18678710 1:CAS:528:DC%2BD1cXpvFKlt74%3D
131. A Imura Y Tsuji M Murata, et al. 2007 α-Klotho as a regulator of calcium homeostasis Science 316 1615 1618 17569864 1:CAS:528: DC%2BD2sXmtl2jsL0%3D
132. Q Chang S Hoefs AW van der Kemp, et al. 2005 The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel Science 310 490 493 16239475 1:CAS:528:DC%2BD2MXhtFahtrrL
133. P Lu S Boros Q Chang, et al. 2008 The beta-glucuronidase klotho exclusively activates the epithelial Ca2+ channels TRPV5 and TRPV6 Nephrol Dial Transplant 11 3397 3402
134. L Lu D Katsaros A Wiley, et al. 2008 Klotho expression in epithelial ovarian cancer and its association with insulin-like growth factors and disease progression Cancer Invest 26 185 192 18259951 1:CAS:528:DC%2BD1cXhs1Wnsrw%3D
135. I Wolf S Levanon-Cohen S Bose, et al. 2008 Klotho: a tumour suppressor and a modulator of the IGF-1 and FGF pathways in human breast cancer Oncogene 27 7094 7105 18762812 1:CAS:528:DC%2BD1cXhsVenu7vK
136. H Liu MM Fergusson RM Castilho, et al. 2007 Augmented Wnt signalling in a mammalian model of accelerated aging Science 317 803 806 17690294 1:CAS:528:DC%2BD2sXptVWjt7s%3D
137. H Kurosu Y Ogawa M Miyoshi, et al. 2006 Regulation of fibroblast growth factor-23 signalling by klotho J Biol Chem 281 6120 6123 16436388 1:CAS:528:DC%2BD28XhvFOhtLk%3D
138. I Urakawa Y Yamazaki T Shimada, et al. 2006 Klotho converts canonical FGF receptor into a specific receptor for FGF23 Nature 444 770 774 17086194 1:CAS:528:DC%2BD28Xht1OntbzF
139. R Goetz A Beenken OA Ibrahimi, et al. 2007 Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members Mol Cell Biol 27 3417 3428 17339340 1:CAS:528: DC%2BD2sXltFCksLY%3D
140. IZ Ben-Dov H Galitzer V Lavi-Moshayoff, et al. 2007 The parathyroid is a target organ for FGF23 in rats J Clin Invest 117 4003 4008 17992255 1:CAS:528:DC%2BD2sXhsValsLzL
141. T Krajisnik P Björklund R Marsell, et al. 2007 Fibroblast growth factor-23 regulates parathyroid hormone and 1alpha-hydroxylase expression in cultured bovine parathyroid cells J Endocrinol 195 125 131 17911404 1:CAS:528:DC%2BD2sXhtlWiu77P
142. P Björklund T Krajisnik G Akerström, et al. 2008 Type I membrane klotho expression is decreased and inversely correlated to serum calcium in primary hyperparathyroidism J Clin Endocrinol Metab 93 4152 4157 18682507
143. H Zhang Y Li Y Fan, et al. 2008 Klotho is a target gene of PPAR-gamma Kidney Int 74 732 739 18547997 1:CAS:528:DC%2BD1cXhtVGgtbvP
144. CA Brownstein F Adler C Nelson-Williams, et al. 2008 A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism Proc Natl Acad Sci USA 105 3455 3460 18308935 1:CAS:528:DC%2BD1cXjtlanu7g%3D
145. Åkerström G, Hellman P, Björklund P (2008) Parathyroid carcinoma. In: Hay I, Wass JAH (eds) Clinical endocrinology, 2nd edn. Blackwell, Chichester
146. RA DeLellis 2005 Parathyroid carcinoma: an overview Adv Anat Pathol 12 53 61 15731573
147. CJ Haven M van Puijenbrock M Karperien, et al. 2004 Differential expression of the calcium sensing receptor and combined loss of chromosomes 1q and 11q in parathyroid carcinoma J Pathol 202 86 94 14694525 1:CAS:528:DC%2BD2cXnslCntw%3D%3D
148. GG Fernandez-Ranvier E Khanafshar D Tacha, et al. 2009 Defining a molecular phenotype for benign and malignant parathyroid tumors Cancer 115 334 444 19107770
149. JL Hunt SE Carty IH Yim, et al. 2005 Allelic loss in parathyroid neoplasia can help characterize malignancy Am J Surg Pathol 29 1049 1055 16006799
150. SE Rogers ND Perrier 2006 Parathyroid carcinoma Curr Opin Oncol 18 16 22
151. N Rawat N Khetan DW Williams, et al. 2005 Parathyroid carcinoma Br J Surg 92 1345 1353 16237743 1:STN:280:DC%2BD2MrntlCjtg%3D%3D
152. EA Mittendorf CR McHenry 2005 Parathyroid carcinoma J Surg Oncol 89 136 142 15719375 1:CAS:528:DC%2BD2MXislSqtrc%3D
153. S Välimäki L Forsberg LO Farnebo, et al. 2002 Distinct target regions for chromosome 1p deletions in parathyroid adenomas and carcinomas Int J Oncol 21 727 735 12239610
154. TM Shattuck S Välimäki T Obara, et al. 2003 Somatic and germ-line mutations of the HRTP2 gene in sporadic parathyroid carcinoma N Engl J Med 349 1722 1729 14585940 1:CAS:528:DC%2BD3sXos1Smsbg%3D
155. VM Howell CJ Haven K Kahnoski, et al. 2003 HRPT2 mutations are associated with malignancy in sporadic parathyroid tumors J Med Genet 40 657 663 12960210 1:CAS:528:DC%2BD3sXot1yit7c%3D
156. AJ Gill A Clarkson O Gimm, et al. 2006 Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias Am J Surg Pathol 30 1140 1149 16931959
157. F Cetani E Ambrogini P Viacava, et al. 2007 Should parafibromin staining replace HRPT2 gene analysis as an additional tool for histological diagnosis of parathyroid carcinoma? Eur J Endocrinol 156 547 554 17468190 1:CAS:528:DC%2BD2sXls1ynsb8%3D
158. CJ Haven M van Puijenbroek MH Tan, et al. 2007 Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas Clin Endocrinol (Oxf) 67 370 376 1:CAS:528:DC%2BD2sXhtFCgtbzE
159. KM Hewitt PK Sharma W Samowitz M Hobbs 2007 Aberrant methylation of the HRPT2 gene in parathyroid carcinoma Ann Otol Rhinol Laryngol 116 928 933 18217513
160. CC Juhlin A Villablanca K Sandelin, et al. 2007 Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification Endocr Relat Cancer 14 501 512 17639063 1:CAS:528:DC%2BD2sXhtV2lsrrI
161. CC Juhlin F Haglund A Villablanca, et al. 2009 Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-β in parathyroid carcinomas Int J Oncol 34 481 492 19148484 1:CAS:528:DC%2BD1MXisVGis7Y%3D