-
1
-
-
84856669927
-
Frequent germ-line mutations of the MEN1 CASR and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism
-
Starker LF, Akerstrom T, Long WD, Delgado-Verdugo A, Donovan P, Udelsman R, Lifton RP, Carling T: Frequent germ-line mutations of the MEN1, CASR and HRPT2/CDC73 genes in young patients with clinically non-familial primary hyperparathyroidism. Horm Cancer 2012; 3: 44-51.
-
(2012)
Horm Cancer
, vol.3
, pp. 44-51
-
-
Starker, L.F.1
Akerstrom, T.2
Long, W.D.3
Delgado-Verdugo, A.4
Donovan, P.5
Udelsman, R.6
Lifton, R.P.7
Carling, T.8
-
2
-
-
84860390067
-
Hyperparathyroid genes: Sequences reveal answers and questions
-
Marx SJ: Hyperparathyroid genes: Sequences reveal answers and questions. Endocr Pract 2011; 17Suppl7: 18-27.
-
(2011)
Endocr Pract
, vol.17
, Issue.SUPPL. 7
, pp. 18-27
-
-
Marx, S.J.1
-
4
-
-
68949099631
-
Sporadic and MEN1-related primary hyperparathyroidism: Differences in clinical expression and severity
-
Eller-Vainicher C, Chiodini I, Battista C, Viti R, Mascia ML, Massironi S, Peracchi M, D'Agruma L, Minisola S, Corbetta S, Cole DEC, Spada A, Scillitani A: Sporadic and MEN1-related primary hyperparathyroidism: Differences in clinical expression and severity. J Bone Miner Res 2009; 24: 1404-1410.
-
(2009)
J Bone Miner Res
, vol.24
, pp. 1404-1410
-
-
Eller-Vainicher, C.1
Chiodini, I.2
Battista, C.3
Viti, R.4
Mascia, M.L.5
Massironi, S.6
Peracchi, M.7
D'Agruma, L.8
Minisola, S.9
Corbetta, S.10
Cole, D.E.C.11
Spada, A.12
Scillitani, A.13
-
5
-
-
38149112594
-
Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene
-
Lemos MC, Thakker RV: Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008; 29: 22-32.
-
(2008)
Hum Mutat
, vol.29
, pp. 22-32
-
-
Lemos, M.C.1
Thakker, R.V.2
-
7
-
-
3242699561
-
Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway
-
Yaguchi H, Ohkura N, Takahashi M, Nagamura Y, Kitabayashi I, Tsukada T: Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. Mol Cell Biol 2004; 24: 6569-6580.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 6569-6580
-
-
Yaguchi, H.1
Ohkura, N.2
Takahashi, M.3
Nagamura, Y.4
Kitabayashi, I.5
Tsukada, T.6
-
8
-
-
84856796202
-
Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: Restoration of expression and activity by CHIP siRNA
-
Canaff L, Vanbellinghen J-F, Kanazawa I, Kwak H, Garfield N, Vautour L, Hendy GN: Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: Restoration of expression and activity by CHIP siRNA. J Clin Endocrinol Metab 2012; 97:E282-E291.
-
(2012)
J Clin Endocrinol Metab
, vol.97
-
-
Canaff, L.1
Vanbellinghen, J.-F.2
Kanazawa, I.3
Kwak, H.4
Garfield, N.5
Vautour, L.6
Hendy, G.N.7
-
9
-
-
0035957357
-
Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type β signaling
-
Kaji H, Canaff L, Lebrun J-J, Goltzman D, Hendy GN: Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type β signaling. Proc Natl Acad Sci USA 2001; 98: 3837-3842.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 3837-3842
-
-
Kaji, H.1
Canaff, L.2
Lebrun, J.-J.3
Goltzman, D.4
Hendy, G.N.5
-
10
-
-
12144290811
-
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 GN, Sugimoto T, Chihara K: Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion. Cancer Res 2004; 64: 2222-2228.
-
(2004)
Cancer Res
, vol.64
, pp. 2222-2228
-
-
Sowa, H.1
Kaji, H.2
Kitazawa, R.3
Kitazawa, S.4
Tsukamoto, T.5
Yano, S.6
Tsukada, T.7
Canaff, L.8
Hendy, G.N.9
Sugimoto, T.10
Chihara, K.11
-
11
-
-
80052417111
-
Crystal structure of menin reveals binding site for mixed lineage leukemia (MLL) protein
-
Murai MJ, Chruszcz M, Reddy G, Grembecka J, Cierpicki T: Crystal structure of menin reveals binding site for mixed lineage leukemia (MLL) protein. J Biol Chem 2011; 286: 31742-31748.
-
(2011)
J Biol Chem
, vol.286
, pp. 31742-31748
-
-
Murai, M.J.1
Chruszcz, M.2
Reddy, G.3
Grembecka, J.4
Cierpicki, T.5
-
12
-
-
84862777931
-
The same pocket in menin binds both MLL and JUND but has opposite effects on transcription
-
Huang J, Gurung B, Wan B, Matkar S, Veniaminova NA, Wan K, Merchant JL, Hua X, Lei M: The same pocket in menin binds both MLL and JUND but has opposite effects on transcription. Nature 2012; 482: 542-546.
-
(2012)
Nature
, vol.482
, pp. 542-546
-
-
Huang, J.1
Gurung, B.2
Wan, B.3
Matkar, S.4
Veniaminova, N.A.5
Wan, K.6
Merchant, J.L.7
Hua, X.8
Lei, M.9
-
13
-
-
84857195696
-
Menin-MLL inhibitors reverse oncogenic activity of MLL fusion proteins in leukemia
-
Grembecka J, He S, Shi A, Purohit T, Muntean AG, Sorenson RJ, Showalter HD, Murai MJ, Belcher AM, Hartley T, Hess JL, Cierpicki T: Menin-MLL inhibitors reverse oncogenic activity of MLL fusion proteins in leukemia. Nat Chem Biol 2012; 8: 277-284.
-
(2012)
Nat Chem Biol
, vol.8
, pp. 277-284
-
-
Grembecka, J.1
He, S.2
Shi, A.3
Purohit, T.4
Muntean, A.G.5
Sorenson, R.J.6
Showalter, H.D.7
Murai, M.J.8
Belcher, A.M.9
Hartley, T.10
Hess, J.L.11
Cierpicki, T.12
-
14
-
-
84858019568
-
Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1)
-
Canaff L, Vanbellinghen J-F, Kaji H, Goltzman D, Hendy GN: Impaired transforming growth factor-β (TGF-β) transcriptional activity and cell proliferation control of a menin in-frame deletion mutant associated with multiple endocrine neoplasia type 1 (MEN1). J Biol Chem 2012; 287: 8584-8597.
-
(2012)
J Biol Chem
, vol.287
, pp. 8584-8597
-
-
Canaff, L.1
Vanbellinghen, J.-F.2
Kaji, H.3
Goltzman, D.4
Hendy, G.N.5
-
15
-
-
0035970092
-
A mouse model of multiple endocrine neoplasia, type 1 develops multiple endocrine tumors
-
Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS: A mouse model of multiple endocrine neoplasia, type 1 develops multiple endocrine tumors. Proc Natl Acad Sci USA 2001; 98: 1118-1123.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 1118-1123
-
-
Crabtree, J.S.1
Scacheri, P.C.2
Ward, J.M.3
Garrett-Beal, L.4
Emmert-Buck, M.R.5
Edgemon, K.A.6
Lorang, D.7
Libutti, S.K.8
Chandrasekharappa, S.C.9
Marx, S.J.10
Spiegel, A.M.11
Collins, F.S.12
-
16
-
-
0037684907
-
Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs
-
Bertolino P, Radovanovic I, Casse H, Aguzzi A, Wang ZQ, Zhang CX: Genetic ablation of the tumor suppressor menin causes lethality at mid-gestation with defects in multiple organs. Mech Dev 2003; 120: 549-560.
-
(2003)
Mech Dev
, vol.120
, pp. 549-560
-
-
Bertolino, P.1
Radovanovic, I.2
Casse, H.3
Aguzzi, A.4
Wang, Z.Q.5
Zhang, C.X.6
-
17
-
-
35748972088
-
Menin is required in cranial neural crest for palatogenesis and perinatal viability
-
Engleka KA, Wu M, Zhang M, Antonucci NB, Epstein JA: Menin is required in cranial neural crest for palatogenesis and perinatal viability. Dev Biol 2007; 311: 524-537.
-
(2007)
Dev Biol
, vol.311
, pp. 524-537
-
-
Engleka, K.A.1
Wu, M.2
Zhang, M.3
Antonucci, N.B.4
Epstein, J.A.5
-
18
-
-
63749097657
-
Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations
-
Margraf RL, Crockett DK, Krautscheid PM, Seamons R, Calderon FR, Wittwer CT, Mao R: Multiple endocrine neoplasia type 2 RET protooncogene database: Repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat 2009; 30: 548-556.
-
(2009)
Hum Mutat
, vol.30
, pp. 548-556
-
-
Margraf, R.L.1
Crockett, D.K.2
Krautscheid, P.M.3
Seamons, R.4
Calderon, F.R.5
Wittwer, C.T.6
Mao, R.7
-
19
-
-
33750361636
-
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans
-
Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 2006; 103: 15558-15563.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15558-15563
-
-
Pellegata, N.S.1
Quintanilla-Martinez, L.2
Siggelkow, H.3
Samson, E.4
Bink, K.5
Hofler, H.6
Fend, F.7
Graw, J.8
Atkinson, M.J.9
-
20
-
-
66149129256
-
Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states
-
Agarwal SK, Mateo CM, Marx SJ: Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocr Metab 2009; 94: 1826-1834.
-
(2009)
J Clin Endocr Metab
, vol.94
, pp. 1826-1834
-
-
Agarwal, S.K.1
Mateo, C.M.2
Marx, S.J.3
-
21
-
-
79953853401
-
Somatic mutation and germline sequence abnormalities in CDKN1B , encoding p27Kip1, in sporadic parathyroid adenomas
-
Costa-Guda J, Marinoni I, Molatore S, Pellegata NS, Arnold A: Somatic mutation and germline sequence abnormalities in CDKN1B , encoding p27Kip1, in sporadic parathyroid adenomas. J Clin Endocrinol Metab 2011; 96:E701-E706.
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Costa-Guda, J.1
Marinoni, I.2
Molatore, S.3
Pellegata, N.S.4
Arnold, A.5
-
22
-
-
0038695145
-
Hyperparathyroidism-jaw tumour syndrome
-
Chen JD, Morrison C, Zhang C, Kahnoski K, Carpten JD, Teh BT: Hyperparathyroidism-jaw tumour syndrome. J Intern Med 2003; 253: 634-642.
-
(2003)
J Intern Med
, vol.253
, pp. 634-642
-
-
Chen, J.D.1
Morrison, C.2
Zhang, C.3
Kahnoski, K.4
Carpten, J.D.5
Teh, B.T.6
-
23
-
-
18744385803
-
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
-
Carpten JD, Robbins CM, Villablanca A, et al: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002; 32: 676-680.
-
(2002)
Nat Genet
, vol.32
, pp. 676-680
-
-
Carpten, J.D.1
Robbins, C.M.2
Villablanca, A.3
-
25
-
-
33947288012
-
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function
-
Lin L, Czapiga M, Nini L, Zhang J-H, Simonds WF: Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism- jaw tumor syndrome enhances its proapoptotic function. Mol Cancer Res 2007; 5: 183-193.
-
(2007)
Mol Cancer Res
, vol.5
, pp. 183-193
-
-
Lin, L.1
Czapiga, M.2
Nini, L.3
Zhang, J.-H.4
Simonds, W.F.5
-
26
-
-
77953573805
-
Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome
-
Panicker LM, Zhang J-H, Dagur PK, Gastinger MJ, Simonds WF: Defective nucleolar localization and dominant interfering properties of a parafibromin L95P missense mutant causing the hyperparathyroidism-jaw tumor syndrome. Endocr Relat Cancer 2010; 17: 513-524.
-
(2010)
Endocr Relat Cancer
, vol.17
, pp. 513-524
-
-
Panicker, L.M.1
Zhang, J.-H.2
Dagur, P.K.3
Gastinger, M.J.4
Simonds, W.F.5
-
27
-
-
79959861920
-
SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver
-
Takahashi A, Tsutsumi R, Kikuchi I, Obuse C, Saito Y, Seidi A, Karisch R, Fernandez M, Cho T, Ohnishi N, Rozenblatt-Rosen O, Meyerson M, Neel BG, Hatakeyama M: SHP2 tyrosine phosphatase converts parafibromin/Cdc73 from a tumor suppressor to an oncogenic driver. Molec Cell 2011; 43: 45-56.
-
(2011)
Molec Cell
, vol.43
, pp. 45-56
-
-
Takahashi, A.1
Tsutsumi, R.2
Kikuchi, I.3
Obuse, C.4
Saito, Y.5
Seidi, A.6
Karisch, R.7
Fernandez, M.8
Cho, T.9
Ohnishi, N.10
Rozenblatt-Rosen, O.11
Meyerson, M.12
Neel, B.G.13
Hatakeyama, M.14
-
28
-
-
77149133985
-
Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
-
Newey PJ, Bowl MR, Cranston T, Thakker RV: Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat 2010; 31: 295-307.
-
(2010)
Hum Mutat
, vol.31
, pp. 295-307
-
-
Newey, P.J.1
Bowl, M.R.2
Cranston, T.3
Thakker, R.V.4
-
29
-
-
0041328511
-
HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
-
Howell VM, Haven CJ, Kahnoski K, et al: HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 2003; 40: 657-663.
-
(2003)
J Med Genet
, vol.40
, pp. 657-663
-
-
Howell, V.M.1
Haven, C.J.2
Kahnoski, K.3
-
30
-
-
0142213734
-
Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma
-
Shattuck TM, Valionaki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A: Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003; 349: 1722-1729.
-
(2003)
N Engl J Med
, vol.349
, pp. 1722-1729
-
-
Shattuck, T.M.1
Valionaki, S.2
Obara, T.3
Gaz, R.D.4
Clark, O.H.5
Shoback, D.6
Wierman, M.E.7
Tojo, K.8
Robbins, C.M.9
Carpten, J.D.10
Farnebo, L.O.11
Larsson, C.12
Arnold, A.13
-
31
-
-
33747668789
-
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: Implications for cancer surveillance
-
Guarnieri V, Scillitani A, Muscarella LA, Battista C, Bonfitto N, Bisceglia M, Minisola S, Mascia ML, D'Agruma L, Cole DEC: Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: Implications for cancer surveillance. J Clin Endocrinol Metab 2006; 91: 2827-2832.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 2827-2832
-
-
Guarnieri, V.1
Scillitani, A.2
Muscarella, L.A.3
Battista, C.4
Bonfitto, N.5
Bisceglia, M.6
Minisola, S.7
Mascia, M.L.8
D'Agruma, L.9
Cole, D.E.C.10
-
32
-
-
80051700212
-
CDC73-related hereditary hyperparathyroidism: Five new mutations and the clinical spectrum
-
Frank-Raue K, Haag C, Schulze E, Keuser R, Raue F, Dralle H, Lorenz K: CDC73-related hereditary hyperparathyroidism: Five new mutations and the clinical spectrum. Eur J Endocrinol 2011; 165: 477-483.
-
(2011)
Eur J Endocrinol
, vol.165
, pp. 477-483
-
-
Frank-Raue, K.1
Haag, C.2
Schulze, E.3
Keuser, R.4
Raue, F.5
Dralle, H.6
Lorenz, K.7
-
33
-
-
5144220874
-
Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma
-
Tan MH, Morrison C, Wang P, Yang X, Haven CJ, Zhang C, Zhao P, Tretiakova MS, Korpi-Hyovalti E, Burgess JR, Soo KC, Cheah WK, Cao B, Resau J, Morreau H, Teh BT: Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res 2004; 10: 6629-6637.
-
(2004)
Clin Cancer Res
, vol.10
, pp. 6629-6637
-
-
Tan, M.H.1
Morrison, C.2
Wang, P.3
Yang, X.4
Haven, C.J.5
Zhang, C.6
Zhao, P.7
Tretiakova, M.S.8
Korpi-Hyovalti, E.9
Burgess, J.R.10
Soo, K.C.11
Cheah, W.K.12
Cao, B.13
Resau, J.14
Morreau, H.15
Teh, B.T.16
-
34
-
-
34249041993
-
Should parafibromin staining replace HRPT2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?
-
Cetani F, Ambrogini E, Viacava P, Pardi E, Fanelli G, Naccarato AG, Borsari S, Lemmi M, Berti P, Miccoli P, Pinchera A, Marcocci C: Should parafibromin staining replace HRPT2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma? Eur J Endocrinol 2007; 156: 547-554.
-
(2007)
Eur J Endocrinol
, vol.156
, pp. 547-554
-
-
Cetani, F.1
Ambrogini, E.2
Viacava, P.3
Pardi, E.4
Fanelli, G.5
Naccarato, A.G.6
Borsari, S.7
Lemmi, M.8
Berti, P.9
Miccoli, P.10
Pinchera, A.11
Marcocci, C.12
-
35
-
-
33846429183
-
Clinical lessons from the calcium-sensing receptor
-
Brown EM: Clinical lessons from the calcium-sensing receptor. Nat Clin Pract Endocrinol Metab 2007; 3: 122-133.
-
(2007)
Nat Clin Pract Endocrinol Metab
, vol.3
, pp. 122-133
-
-
Brown, E.M.1
-
38
-
-
79953864293
-
Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: Clinical benefit from cinacalcet
-
Reh CM, Hendy GN, Cole DEC, Jeandron DD: Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: Clinical benefit from cinacalcet, J Clin Endocrinol Metab 2011; 96:E707-E712.
-
(2011)
J Clin Endocrinol Metab
, vol.96
-
-
Reh, C.M.1
Hendy, G.N.2
Cole, D.E.C.3
Jeandron, D.D.4
-
39
-
-
79955748231
-
Regulator of G protein signaling 5 is highly expressed in parathyroid tumors and inhibits signaling by the calcium-sensing receptor
-
Koh J, Dar M, Untch BR, Dixit D, Shi Y, Yang Z, Adam MA, Dressman H, Wang X, Gesty-Palmer D, Marks JR, Spurney R, Druey KM, Olson JA Jr: Regulator of G protein signaling 5 is highly expressed in parathyroid tumors and inhibits signaling by the calcium-sensing receptor. Molec Endocrinol 2011; 25: 867-876.
-
(2011)
Molec Endocrinol
, vol.25
, pp. 867-876
-
-
Koh, J.1
Dar, M.2
Untch, B.R.3
Dixit, D.4
Shi, Y.5
Yang, Z.6
Adam, M.A.7
Dressman, H.8
Wang, X.9
Gesty-Palmer, D.10
Marks, J.R.11
Spurney, R.12
Druey, K.M.13
Olson Jr., J.A.14
-
40
-
-
0037119447
-
Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D
-
Canaff L, Hendy GN: Human calcium-sensing receptor gene. Vitamin D response elements in promoters P1 and P2 confer transcriptional responsiveness to 1,25-dihydroxyvitamin D. J Biol Chem 2002; 277: 30337-30350.
-
(2002)
J Biol Chem
, vol.277
, pp. 30337-30350
-
-
Canaff, L.1
Hendy, G.N.2
-
41
-
-
34447119567
-
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status
-
Zajickova K, Vrbikova J, Canaff L, Pawelek PD, Goltzman D, Hendy GN: Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: Modulation of clinical severity by vitamin D status. J Clin Endocrinol Metab 2007; 92: 2616-2623.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2616-2623
-
-
Zajickova, K.1
Vrbikova, J.2
Canaff, L.3
Pawelek, P.D.4
Goltzman, D.5
Hendy, G.N.6
-
42
-
-
33846094111
-
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor
-
Scillitani A, Guarnieri V, Battista C, De Gerinimo S, Muscarella LA, Chiodini I, Cignarelli M, Minisola S, Bertoldo F, Francucci CM, Malavolta N, Piovesan A, Mascia ML, Muscarella S, Hendy GN, D'Agruma L, Cole DEC: Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. J Clin Endocrinol Metab 2007; 92: 277-283.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 277-283
-
-
Scillitani, A.1
Guarnieri, V.2
Battista, C.3
De Gerinimo, S.4
Muscarella, L.A.5
Chiodini, I.6
Cignarelli, M.7
Minisola, S.8
Bertoldo, F.9
Francucci, C.M.10
Malavolta, N.11
Piovesan, A.12
Mascia, M.L.13
Muscarella, S.14
Hendy, G.N.15
D'Agruma, L.16
Cole, D.E.C.17
-
43
-
-
77954893409
-
Molecular basis of PTH overexpression
-
in Bilezikian JP, Martin TJ, Raisz LG (eds), ed 3. San Diego Academic Press
-
Hendy GN, Arnold A: Molecular basis of PTH overexpression; in Bilezikian JP, Martin TJ, Raisz LG (eds): Principles of Bone Biology, ed 3. San Diego, Academic Press, 2008, pp 1311-1326.
-
(2008)
Principles of Bone Biology
, pp. 1311-1326
-
-
Hendy, G.N.1
Arnold, A.2
-
44
-
-
51649105714
-
PTH mutation with primary hyperparathyroidism and undetectable intact PTH
-
Au AYM, McDonald K, Gill A, Sywak M, Diamond T, Conigrave AD, Clifton-Bligh RJ: PTH mutation with primary hyperparathyroidism and undetectable intact PTH. N Engl J Med 2008; 359: 1184-1186.
-
(2008)
N Engl J Med
, vol.359
, pp. 1184-1186
-
-
Au, A.Y.M.1
McDonald, K.2
Gill, A.3
Sywak, M.4
Diamond, T.5
Conigrave, A.D.6
Clifton-Bligh, R.J.7
-
45
-
-
84862661822
-
A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort
-
Guarnieri V, Baorda F, Battista C, Bisceglia M, Balsamo T, Gruppioni E, Florentino M, Muscarella LA, Coco M, Barbano R, Corbetta S, Spada A, Cole DEC, Canaff L, Hendy GN, Carella, M, Scillitani A: A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort. Endocr 2012; 41: 152-155.
-
(2012)
Endocr
, vol.41
, pp. 152-155
-
-
Guarnieri, V.1
Baorda, F.2
Battista, C.3
Bisceglia, M.4
Balsamo, T.5
Gruppioni, E.6
Florentino, M.7
Muscarella, L.A.8
Coco, M.9
Barbano, R.10
Corbetta, S.11
Spada, A.12
Cole, D.E.C.13
Canaff, L.14
Hendy, G.N.15
Carella, M.16
Scillitani, A.17
-
46
-
-
84863570072
-
Hypermethylated in cancer (HIC1) , a tumor suppressor gene epigenetically deregulated in hyperparathyroid tumors by histone H3 lysine modification
-
Svedlund J, Edblom SK, Marquez VE, Akerstrom G, Bjorklund P, Westin G: Hypermethylated in cancer (HIC1) , a tumor suppressor gene epigenetically deregulated in hyperparathyroid tumors by histone H3 lysine modification. J Clin Endocrinol Metab 2012; 97:E1307-E1315.
-
(2012)
J Clin Endocrinol Metab
, vol.97
-
-
Svedlund, J.1
Edblom, S.K.2
Marquez, V.E.3
Akerstrom, G.4
Bjorklund, P.5
Westin, G.6
-
47
-
-
78149455167
-
Aberrant WNT/ β-catenin signaling in parathyroid carcinoma
-
Svedlund J, Auren M, Sundstrom M, Dralle H, Akerstrom G, Bjorklund P, Westin G: Aberrant WNT/ β-catenin signaling in parathyroid carcinoma. Molec Cancer 2010; 9: 294.
-
(2010)
Molec Cancer
, vol.9
, pp. 294
-
-
Svedlund, J.1
Auren, M.2
Sundstrom, M.3
Dralle, H.4
Akerstrom, G.5
Bjorklund, P.6
Westin, G.7
-
48
-
-
79960176508
-
The DNA methylome of benign and malignant parathyroid tumors
-
Starker LF, Svedlund J, Udelsman R, Dralle H, Akerstrom G, Westin G, Lifton RP, Bjorklund P, Carling T: The DNA methylome of benign and malignant parathyroid tumors. Gene Chromosome Cancer 2011; 50: 735-745.
-
(2011)
Gene Chromosome Cancer
, vol.50
, pp. 735-745
-
-
Starker, L.F.1
Svedlund, J.2
Udelsman, R.3
Dralle, H.4
Akerstrom, G.5
Westin, G.6
Lifton, R.P.7
Bjorklund, P.8
Carling, T.9
-
49
-
-
77449091373
-
Differential expression of microRNAs in human parathyroid carcinomas compared with normal tissue
-
Corbetta S, Vaira V, Guarnieri V, Scillitani A, Eller-Vainicher C, Ferrero S, Vicentini L, Chiodini I, Bisceglia M, Beck-Peccoz P, Bosari S, Spada A: Differential expression of microRNAs in human parathyroid carcinomas compared with normal tissue. Endocr Relat Cancer 2010; 17: 135-146.
-
(2010)
Endocr Relat Cancer
, vol.17
, pp. 135-146
-
-
Corbetta, S.1
Vaira, V.2
Guarnieri, V.3
Scillitani, A.4
Eller-Vainicher, C.5
Ferrero, S.6
Vicentini, L.7
Chiodini, I.8
Bisceglia, M.9
Beck-Peccoz, P.10
Bosari, S.11
Spada, A.12
-
50
-
-
5644235021
-
Gene expression of parathyroid tumors: Molecular subclassification and identification of the potential malignant phenotype
-
Haven CJ, Howell VM, Eilers PHC, Dunne R, Takahashi M, Van Puijenbrock M, Furge K, Kievit J, Tan M-H, Fleuren GJ, Robinson BG, Delbridge LW, Philips J, Nelson AE, Krause U, Dralle H, Hoang-Vu C, Gimm O, Morreau H, Marsh DJ, Teh BT: Gene expression of parathyroid tumors: Molecular subclassification and identification of the potential malignant phenotype. Cancer Res 2004; 64: 7405-7411.
-
(2004)
Cancer Res
, vol.64
, pp. 7405-7411
-
-
Haven, C.J.1
Howell, V.M.2
Eilers, P.H.C.3
Dunne, R.4
Takahashi, M.5
Van Puijenbrock, M.6
Furge, K.7
Kievit, J.8
Tan, M.-H.9
Fleuren, G.J.10
Robinson, B.G.11
Delbridge, L.W.12
Philips, J.13
Nelson, A.E.14
Krause, U.15
Dralle, H.16
Hoang-Vu, C.17
Gimm, O.18
Morreau, H.19
Marsh, D.J.20
Teh, B.T.21
more..
-
51
-
-
79951639989
-
A proteomic approach to study parathyroid glands
-
Giusti L, Cetani F, Ciregia F, Da Valle V, Donadio E, Giannaccini G, Banti C, Pardi E, Saponaro F, Basolo F, Berti P, Miccoli P, Pinchera A, Marcocci C, Lucacchini A: A proteomic approach to study parathyroid glands. Mol Biosyst 2011; 7: 687-699.
-
(2011)
Mol Biosyst
, vol.7
, pp. 687-699
-
-
Giusti, L.1
Cetani, F.2
Ciregia, F.3
Da Valle, V.4
Donadio, E.5
Giannaccini, G.6
Banti, C.7
Pardi, E.8
Saponaro, F.9
Basolo, F.10
Berti, P.11
Miccoli, P.12
Pinchera, A.13
Marcocci, C.14
Lucacchini, A.15
-
52
-
-
84866170767
-
Identification of somatic mutations in parathyroid tumors using whole exome sequencing
-
Cromer MK, Starker LF, Choi M, Udelsman R, Nelson-Williams C, Lifton RP, Carling T: Identification of somatic mutations in parathyroid tumors using whole exome sequencing. J Clin Endocrinol Metab 2012; 97:E1774-E1781.
-
(2012)
J Clin Endocrinol Metab
, vol.97
-
-
Cromer, M.K.1
Starker, L.F.2
Choi, M.3
Udelsman, R.4
Nelson-Williams, C.5
Lifton, R.P.6
Carling, T.7
|