-
1
-
-
2642546399
-
Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
-
Topaz O., Shurman D.L., Bergman R., Indelman M., Ratajczak P., Mizrachi M., et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004, 36:579-581.
-
(2004)
Nat Genet
, vol.36
, pp. 579-581
-
-
Topaz, O.1
Shurman, D.L.2
Bergman, R.3
Indelman, M.4
Ratajczak, P.5
Mizrachi, M.6
-
2
-
-
77950395245
-
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
-
Ichikawa S., Baujat G., Seyahi A., Garoufali A.G., Imel E.A., Padgett L.R., et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A 2010, 152A:896-903.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 896-903
-
-
Ichikawa, S.1
Baujat, G.2
Seyahi, A.3
Garoufali, A.G.4
Imel, E.A.5
Padgett, L.R.6
-
3
-
-
17844397173
-
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive
-
Ichikawa S., Lyles K.W., Econs M.J. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab 2005, 90:2420-2423.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2420-2423
-
-
Ichikawa, S.1
Lyles, K.W.2
Econs, M.J.3
-
4
-
-
34848871595
-
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis
-
Ichikawa S., Imel E.A., Kreiter M.L., Yu X., Mackenzie D.S., Sorenson A.H., et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007, 117:2684-2691.
-
(2007)
J Clin Invest
, vol.117
, pp. 2684-2691
-
-
Ichikawa, S.1
Imel, E.A.2
Kreiter, M.L.3
Yu, X.4
Mackenzie, D.S.5
Sorenson, A.H.6
-
5
-
-
13544270218
-
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia
-
Benet-Pagès A., Orlik P., Strom T.M., Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005, 14:385-390.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 385-390
-
-
Benet-Pagès, A.1
Orlik, P.2
Strom, T.M.3
Lorenz-Depiereux, B.4
-
6
-
-
17844402245
-
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis
-
Larsson T., Yu X., Davis S.I., Draman M.S., Mooney S.D., Cullen M.J., et al. A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis. J Clin Endocrinol Metab 2005, 90:2424-2427.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 2424-2427
-
-
Larsson, T.1
Yu, X.2
Davis, S.I.3
Draman, M.S.4
Mooney, S.D.5
Cullen, M.J.6
-
7
-
-
33745828096
-
Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation
-
Kato K., Jeanneau C., Tarp M.A., Benet-Pages A., Lorenz-Depiereux B., Bennett E.P., et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006, 281:18370-18377.
-
(2006)
J Biol Chem
, vol.281
, pp. 18370-18377
-
-
Kato, K.1
Jeanneau, C.2
Tarp, M.A.3
Benet-Pages, A.4
Lorenz-Depiereux, B.5
Bennett, E.P.6
-
8
-
-
33646578195
-
Regulation of fibroblast growth factor-23 signaling by klotho
-
Kurosu H., Ogawa Y., Miyoshi M., Yamamoto M., Nandi A., Rosenblatt K.P., et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 2006, 281:6120-6123.
-
(2006)
J Biol Chem
, vol.281
, pp. 6120-6123
-
-
Kurosu, H.1
Ogawa, Y.2
Miyoshi, M.3
Yamamoto, M.4
Nandi, A.5
Rosenblatt, K.P.6
-
9
-
-
33845631059
-
Klotho converts canonical FGF receptor into a specific receptor for FGF23
-
Urakawa I., Yamazaki Y., Shimada T., Iijima K., Hasegawa H., Okawa K., et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 2006, 444:770-774.
-
(2006)
Nature
, vol.444
, pp. 770-774
-
-
Urakawa, I.1
Yamazaki, Y.2
Shimada, T.3
Iijima, K.4
Hasegawa, H.5
Okawa, K.6
-
10
-
-
14344279878
-
Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
-
Shimada T., Mizutani S., Muto T., Yoneya T., Hino R., Takeda S., et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A 2001, 98:6500-6505.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 6500-6505
-
-
Shimada, T.1
Mizutani, S.2
Muto, T.3
Yoneya, T.4
Hino, R.5
Takeda, S.6
-
11
-
-
34249855902
-
Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations
-
Ichikawa S., Guigonis V., Imel E.A., Courouble M., Heissat S., Henley J.D., et al. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab 2007, 92:1943-1947.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 1943-1947
-
-
Ichikawa, S.1
Guigonis, V.2
Imel, E.A.3
Courouble, M.4
Heissat, S.5
Henley, J.D.6
-
12
-
-
33751533213
-
Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene
-
Ichikawa S., Imel E.A., Sorenson A.H., Severe R., Knudson P., Harris G.J., et al. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab 2006, 91:4472-4475.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4472-4475
-
-
Ichikawa, S.1
Imel, E.A.2
Sorenson, A.H.3
Severe, R.4
Knudson, P.5
Harris, G.J.6
-
13
-
-
70449124261
-
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis
-
Bergwitz C., Banerjee S., Abu-Zahra H., Kaji H., Miyauchi A., Sugimoto T., et al. Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis. J Clin Endocrinol Metab 2009, 94:4267-4274.
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 4267-4274
-
-
Bergwitz, C.1
Banerjee, S.2
Abu-Zahra, H.3
Kaji, H.4
Miyauchi, A.5
Sugimoto, T.6
-
14
-
-
67349239355
-
A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features
-
Dumitrescu C.E., Kelly M.H., Khosravi A., Hart T.C., Brahim J., White K.E., et al. A case of familial tumoral calcinosis/hyperostosis-hyperphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demonstrating new phenotypic features. Osteoporos Int 2009, 20:1273-1278.
-
(2009)
Osteoporos Int
, vol.20
, pp. 1273-1278
-
-
Dumitrescu, C.E.1
Kelly, M.H.2
Khosravi, A.3
Hart, T.C.4
Brahim, J.5
White, K.E.6
-
15
-
-
33749576547
-
The role of mutant UDP-N-acetyl-alpha-d-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis
-
Garringer H.J., Fisher C., Larsson T.E., Davis S.I., Koller D.L., Cullen M.J., et al. The role of mutant UDP-N-acetyl-alpha-d-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis. J Clin Endocrinol Metab 2006, 91:4037-4042.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 4037-4042
-
-
Garringer, H.J.1
Fisher, C.2
Larsson, T.E.3
Davis, S.I.4
Koller, D.L.5
Cullen, M.J.6
-
16
-
-
0029088695
-
Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide
-
Yamaguchi T., Sugimoto T., Imai Y., Fukase M., Fujita T., Chihara K. Successful treatment of hyperphosphatemic tumoral calcinosis with long-term acetazolamide. Bone 1995, 16:247S-250S.
-
(1995)
Bone
, vol.16
-
-
Yamaguchi, T.1
Sugimoto, T.2
Imai, Y.3
Fukase, M.4
Fujita, T.5
Chihara, K.6
-
17
-
-
26044474486
-
Nicotinamide prevents the development of hyperphosphataemia by suppressing intestinal sodium-dependent phosphate transporter in rats with adenine-induced renal failure
-
Eto N., Miyata Y., Ohno H., Yamashita T. Nicotinamide prevents the development of hyperphosphataemia by suppressing intestinal sodium-dependent phosphate transporter in rats with adenine-induced renal failure. Nephrol Dial Transplant 2005, 20:1378-1384.
-
(2005)
Nephrol Dial Transplant
, vol.20
, pp. 1378-1384
-
-
Eto, N.1
Miyata, Y.2
Ohno, H.3
Yamashita, T.4
-
18
-
-
0032919360
-
Nicotinamide inhibits sodium-dependent phosphate cotransport activity in rat small intestine
-
Katai K., Tanaka H., Tatsumi S., Fukunaga Y., Genjida K., Morita K., et al. Nicotinamide inhibits sodium-dependent phosphate cotransport activity in rat small intestine. Nephrol Dial Transplant 1999, 14:1195-1201.
-
(1999)
Nephrol Dial Transplant
, vol.14
, pp. 1195-1201
-
-
Katai, K.1
Tanaka, H.2
Tatsumi, S.3
Fukunaga, Y.4
Genjida, K.5
Morita, K.6
-
19
-
-
0023690688
-
Nicotinamide as a rapid-acting inhibitor of renal brush-border phosphate transport
-
Wu K.I., Bacon R.A., Al-Mahrouq H.A., Kempson S.A. Nicotinamide as a rapid-acting inhibitor of renal brush-border phosphate transport. Am J Physiol 1988, 255:F15-F21.
-
(1988)
Am J Physiol
, vol.255
-
-
Wu, K.I.1
Bacon, R.A.2
Al-Mahrouq, H.A.3
Kempson, S.A.4
-
20
-
-
0019508012
-
Possible role of nicotinamide adenine dinucleotide as an intracellular regulator of renal transport of phosphate in the rat
-
Kempson S.A., Colon-Otero G., Ou S.Y., Turner S.T., Dousa T.P. Possible role of nicotinamide adenine dinucleotide as an intracellular regulator of renal transport of phosphate in the rat. J Clin Invest 1981, 67:1347-1360.
-
(1981)
J Clin Invest
, vol.67
, pp. 1347-1360
-
-
Kempson, S.A.1
Colon-Otero, G.2
Ou, S.Y.3
Turner, S.T.4
Dousa, T.P.5
-
21
-
-
49149098973
-
A randomized, double-blind, placebo-controlled trial of niacinamide for reduction of phosphorus in hemodialysis patients
-
Cheng S.C., Young D.O., Huang Y., Delmez J.A., Coyne D.W. A randomized, double-blind, placebo-controlled trial of niacinamide for reduction of phosphorus in hemodialysis patients. Clin J Am Soc Nephrol 2008, 3:1131-1138.
-
(2008)
Clin J Am Soc Nephrol
, vol.3
, pp. 1131-1138
-
-
Cheng, S.C.1
Young, D.O.2
Huang, Y.3
Delmez, J.A.4
Coyne, D.W.5
-
22
-
-
1342322644
-
Nicotinamide suppresses hyperphosphatemia in hemodialysis patients
-
Takahashi Y., Tanaka A., Nakamura T., Fukuwatari T., Shibata K., Shimada N., et al. Nicotinamide suppresses hyperphosphatemia in hemodialysis patients. Kidney Int 2004, 65:1099-1104.
-
(2004)
Kidney Int
, vol.65
, pp. 1099-1104
-
-
Takahashi, Y.1
Tanaka, A.2
Nakamura, T.3
Fukuwatari, T.4
Shibata, K.5
Shimada, N.6
-
23
-
-
73949143510
-
The effect of oral niacinamide on plasma phosphorus levels in peritoneal dialysis patients
-
Young D.O., Cheng S.C., Delmez J.A., Coyne D.W. The effect of oral niacinamide on plasma phosphorus levels in peritoneal dialysis patients. Perit Dial Int 2009, 29:562-567.
-
(2009)
Perit Dial Int
, vol.29
, pp. 562-567
-
-
Young, D.O.1
Cheng, S.C.2
Delmez, J.A.3
Coyne, D.W.4
-
24
-
-
79951826726
-
Oral nicotinamide reduces serum phosphorus, increases HDL, and induces thrombocytopenia in hemodialysis patients: a double-blind randomized clinical trial
-
Shahbazian H., Zafar Mohtashami A., Ghorbani A., Abbaspour M.R., Belladi Musavi S.S., Hayati F., et al. Oral nicotinamide reduces serum phosphorus, increases HDL, and induces thrombocytopenia in hemodialysis patients: a double-blind randomized clinical trial. Nefrologia 2011, 31:58-65.
-
(2011)
Nefrologia
, vol.31
, pp. 58-65
-
-
Shahbazian, H.1
Zafar Mohtashami, A.2
Ghorbani, A.3
Abbaspour, M.R.4
Belladi Musavi, S.S.5
Hayati, F.6
-
25
-
-
66649090939
-
Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression
-
Ichikawa S., Sorenson A.H., Austin A.M., Mackenzie D.S., Fritz T.A., Moh A., et al. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology 2009, 150:2543-2550.
-
(2009)
Endocrinology
, vol.150
, pp. 2543-2550
-
-
Ichikawa, S.1
Sorenson, A.H.2
Austin, A.M.3
Mackenzie, D.S.4
Fritz, T.A.5
Moh, A.6
-
26
-
-
82355188241
-
Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis
-
Ichikawa S., Austin A.M., Gray A.K., Allen M.R., Econs M.J. Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis. Endocrinology 2011, 152:4504-4513.
-
(2011)
Endocrinology
, vol.152
, pp. 4504-4513
-
-
Ichikawa, S.1
Austin, A.M.2
Gray, A.K.3
Allen, M.R.4
Econs, M.J.5
-
27
-
-
0036851840
-
Food intake, water intake, and drinking spout side preference of 28 mouse strains
-
Bachmanov A.A., Reed D.R., Beauchamp G.K., Tordoff M.G. Food intake, water intake, and drinking spout side preference of 28 mouse strains. Behav Genet 2002, 32:435-443.
-
(2002)
Behav Genet
, vol.32
, pp. 435-443
-
-
Bachmanov, A.A.1
Reed, D.R.2
Beauchamp, G.K.3
Tordoff, M.G.4
-
28
-
-
84904496858
-
High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis
-
Ichikawa S., Gray A.K., Padgett L.R., Reilly A.M., Unsicker T.R. High dietary phosphate intake induces development of ectopic calcifications in a murine model of familial tumoral calcinosis. J Bone Miner Res 2014.
-
(2014)
J Bone Miner Res
-
-
Ichikawa, S.1
Gray, A.K.2
Padgett, L.R.3
Reilly, A.M.4
Unsicker, T.R.5
-
29
-
-
84877285747
-
Progression of coronary calcium and incident coronary heart disease events: MESA (Multi-Ethnic Study of Atherosclerosis)
-
Budoff M.J., Young R., Lopez V.A., Kronmal R.A., Nasir K., Blumenthal R.S., et al. Progression of coronary calcium and incident coronary heart disease events: MESA (Multi-Ethnic Study of Atherosclerosis). J Am Coll Cardiol 2013, 61:1231-1239.
-
(2013)
J Am Coll Cardiol
, vol.61
, pp. 1231-1239
-
-
Budoff, M.J.1
Young, R.2
Lopez, V.A.3
Kronmal, R.A.4
Nasir, K.5
Blumenthal, R.S.6
-
30
-
-
84872953730
-
Nicotinic acid as a lipid-modifying drug-a review
-
Julius U., Fischer S. Nicotinic acid as a lipid-modifying drug-a review. Atheroscler Suppl 2013, 14:7-13.
-
(2013)
Atheroscler Suppl
, vol.14
, pp. 7-13
-
-
Julius, U.1
Fischer, S.2
|