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Results: 1 to 20 of 101

1.

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.

Takeyari S, Yamamoto T, Kinoshita Y, Fukumoto S, Glorieux FH, Michigami T, Hasegawa K, Kitaoka T, Kubota T, Imanishi Y, Shimotsuji T, Ozono K.

Bone. 2014 Oct;67:56-62. doi: 10.1016/j.bone.2014.06.026. Epub 2014 Jun 27.

PMID:
24982027
[PubMed - in process]
2.

Functional analysis of mutant FAM20C in Raine syndrome with FGF23-related hypophosphatemia.

Kinoshita Y, Hori M, Taguchi M, Fukumoto S.

Bone. 2014 Oct;67:145-51. doi: 10.1016/j.bone.2014.07.009. Epub 2014 Jul 12.

PMID:
25026495
[PubMed - in process]
3.

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujitab T.

Bone. 2011 Oct;49(4):913-6. doi: 10.1016/j.bone.2011.06.029. Epub 2011 Jul 2.

PMID:
21745613
[PubMed - indexed for MEDLINE]
4.

Pathogenic role of Fgf23 in Dmp1-null mice.

Liu S, Zhou J, Tang W, Menard R, Feng JQ, Quarles LD.

Am J Physiol Endocrinol Metab. 2008 Aug;295(2):E254-61. doi: 10.1152/ajpendo.90201.2008. Epub 2008 Jun 17.

PMID:
18559986
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice.

Wang X, Wang S, Li C, Gao T, Liu Y, Rangiani A, Sun Y, Hao J, George A, Lu Y, Groppe J, Yuan B, Feng JQ, Qin C.

PLoS Genet. 2012;8(5):e1002708. doi: 10.1371/journal.pgen.1002708. Epub 2012 May 17.

PMID:
22615579
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.

Chi Y, Zhao Z, He X, Sun Y, Jiang Y, Li M, Wang O, Xing X, Sun AY, Zhou X, Meng X, Xia W.

Bone. 2014 Feb;59:114-21. doi: 10.1016/j.bone.2013.11.008. Epub 2013 Nov 16.

PMID:
24246249
[PubMed - indexed for MEDLINE]
7.

Regulation of bone-renal mineral and energy metabolism: the PHEX, FGF23, DMP1, MEPE ASARM pathway.

Rowe PS.

Crit Rev Eukaryot Gene Expr. 2012;22(1):61-86. Review.

PMID:
22339660
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Emerging role of fibroblast growth factor 23 in a bone-kidney axis regulating systemic phosphate homeostasis and extracellular matrix mineralization.

Liu S, Gupta A, Quarles LD.

Curr Opin Nephrol Hypertens. 2007 Jul;16(4):329-35. Review.

PMID:
17565275
[PubMed - indexed for MEDLINE]
9.

[Chronic bone pain due to raised FGF23 production? The importance of determining phosphate levels].

de Jongh RT, Vervloet MG, Bravenboer N, Heijboer AC, den Heijer M, Lips P.

Ned Tijdschr Geneeskd. 2013;157(28):A5908. Dutch.

PMID:
23841927
[PubMed - indexed for MEDLINE]
10.

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.

Rafaelsen SH, Raeder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R.

J Bone Miner Res. 2013 Jun;28(6):1378-85. doi: 10.1002/jbmr.1850.

PMID:
23325605
[PubMed - indexed for MEDLINE]
11.

Expression of FGF23 is correlated with serum phosphate level in isolated fibrous dysplasia.

Kobayashi K, Imanishi Y, Koshiyama H, Miyauchi A, Wakasa K, Kawata T, Goto H, Ohashi H, Koyano HM, Mochizuki R, Miki T, Inaba M, Nishizawa Y.

Life Sci. 2006 Apr 11;78(20):2295-301. Epub 2005 Dec 7.

PMID:
16337659
[PubMed - indexed for MEDLINE]
12.

Resolution of severe, adolescent-onset hypophosphatemic rickets following resection of an FGF-23-producing tumour of the distal ulna.

Ward LM, Rauch F, White KE, Filler G, Matzinger MA, Letts M, Travers R, Econs MJ, Glorieux FH.

Bone. 2004 May;34(5):905-11.

PMID:
15121023
[PubMed - indexed for MEDLINE]
13.

Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.

Mäkitie O, Pereira RC, Kaitila I, Turan S, Bastepe M, Laine T, Kröger H, Cole WG, Jüppner H.

J Bone Miner Res. 2010 Oct;25(10):2165-74. doi: 10.1002/jbmr.105.

PMID:
20499351
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.

Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K.

J Bone Miner Metab. 2007;25(6):407-13. Epub 2007 Oct 25.

PMID:
17968493
[PubMed - indexed for MEDLINE]
15.

Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.

Feng JQ, Clinkenbeard EL, Yuan B, White KE, Drezner MK.

Bone. 2013 Jun;54(2):213-21. doi: 10.1016/j.bone.2013.01.046. Epub 2013 Feb 9. Review.

PMID:
23403405
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

FGF23 and syndromes of abnormal renal phosphate handling.

Bergwitz C, Jüppner H.

Adv Exp Med Biol. 2012;728:41-64. doi: 10.1007/978-1-4614-0887-1_3. Review.

PMID:
22396161
[PubMed - indexed for MEDLINE]
17.

Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis.

Tagliabracci VS, Engel JL, Wiley SE, Xiao J, Gonzalez DJ, Nidumanda Appaiah H, Koller A, Nizet V, White KE, Dixon JE.

Proc Natl Acad Sci U S A. 2014 Apr 15;111(15):5520-5. doi: 10.1073/pnas.1402218111. Epub 2014 Mar 26.

PMID:
24706917
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Evaluation of a role for 1,25-dihydroxyvitamin D3 in the pathogenesis and treatment of X-linked hypophosphatemic rickets and osteomalacia.

Drezner MK, Lyles KW, Haussler MR, Harrelson JM.

J Clin Invest. 1980 Nov;66(5):1020-32.

PMID:
6253520
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement.

Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D, Minagawa M, Sugimoto T, Yamauchi M, Michigami T, Matsumoto T.

Bone. 2008 Jun;42(6):1235-9. doi: 10.1016/j.bone.2008.02.014. Epub 2008 Mar 5.

PMID:
18396126
[PubMed - indexed for MEDLINE]
20.

Fibroblast growth factor 23 and its receptors.

Yu X, White KE.

Ther Apher Dial. 2005 Aug;9(4):308-12. Review.

PMID:
16076372
[PubMed - indexed for MEDLINE]

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