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Results: 1 to 20 of 236

1.

[Analysis of PHEX gene mutation in a hypophosphatasia pedigree].

Ma MY, Li H, Cai YS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):582-4. doi: 10.3760/cma.j.issn.1003-9406.2013.05.016. Chinese.

PMID:
24078575
[PubMed - indexed for MEDLINE]
2.

Dosage effect of a Phex mutation in a murine model of X-linked hypophosphatemia.

Ichikawa S, Gray AK, Bikorimana E, Econs MJ.

Calcif Tissue Int. 2013 Aug;93(2):155-62. doi: 10.1007/s00223-013-9736-4. Epub 2013 May 23.

PMID:
23700148
[PubMed - indexed for MEDLINE]
3.

Retinol deprivation partially rescues the skeletal mineralization defects of Phex-deficient Hyp mice.

Seitz S, Rendenbach C, Barvencik F, Streichert T, Jeschke A, Schulze J, Amling M, Schinke T.

Bone. 2013 Mar;53(1):231-8. doi: 10.1016/j.bone.2012.12.009. Epub 2012 Dec 20.

PMID:
23266491
[PubMed - indexed for MEDLINE]
4.

Symmetrically reduced stiffness and increased extensibility in compression and tension at the mineralized fibrillar level in rachitic bone.

Karunaratne A, Boyde A, Esapa CT, Hiller J, Terrill NJ, Brown SD, Cox RD, Thakker RV, Gupta HS.

Bone. 2013 Feb;52(2):689-98. doi: 10.1016/j.bone.2012.10.029. Epub 2012 Nov 3.

PMID:
23128355
[PubMed - indexed for MEDLINE]
5.

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.

Durmaz E, Zou M, Al-Rijjal RA, Baitei EY, Hammami S, Bircan I, Akçurin S, Meyer B, Shi Y.

Bone. 2013 Jan;52(1):286-91. doi: 10.1016/j.bone.2012.10.012. Epub 2012 Oct 16.

PMID:
23079138
[PubMed - indexed for MEDLINE]
6.

Mutation in Phex gene predisposes BALB/c-Phex(Hyp-Duk)/Y mice to otitis media.

Han F, Yu H, Li P, Zhang J, Tian C, Li H, Zheng QY.

PLoS One. 2012;7(9):e43010. doi: 10.1371/journal.pone.0043010. Epub 2012 Sep 28.

PMID:
23028440
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.

Kang QL, Xu J, Zhang Z, He JW, Lu LS, Fu WZ, Zhang ZL.

Biochem Biophys Res Commun. 2012 Jul 13;423(4):793-8. doi: 10.1016/j.bbrc.2012.06.042. Epub 2012 Jun 16.

PMID:
22713460
[PubMed - indexed for MEDLINE]
8.

Hypophosphatemic rickets is associated with disruption of mineral orientation at the nanoscale in the flat scapula bones of rachitic mice with development.

Karunaratne A, Davis GR, Hiller J, Esapa CT, Terrill NJ, Brown SD, Cox RD, Thakker RV, Gupta HS.

Bone. 2012 Sep;51(3):553-62. doi: 10.1016/j.bone.2012.04.021. Epub 2012 May 15.

PMID:
22609228
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
10.

Chronic inhibition of ERK1/2 signaling improves disordered bone and mineral metabolism in hypophosphatemic (Hyp) mice.

Zhang MY, Ranch D, Pereira RC, Armbrecht HJ, Portale AA, Perwad F.

Endocrinology. 2012 Apr;153(4):1806-16. doi: 10.1210/en.2011-1831. Epub 2012 Feb 14.

PMID:
22334725
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

X-Linked Hypophosphatemia.

Ruppe MD.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2012 Feb 09 [updated 2012 Sep 27].

PMID:
22319799
[PubMed]
Books & Documents
12.

Significant deterioration in nanomechanical quality occurs through incomplete extrafibrillar mineralization in rachitic bone: evidence from in-situ synchrotron X-ray scattering and backscattered electron imaging.

Karunaratne A, Esapa CR, Hiller J, Boyde A, Head R, Bassett JH, Terrill NJ, Williams GR, Brown MA, Croucher PI, Brown SD, Cox RD, Barber AH, Thakker RV, Gupta HS.

J Bone Miner Res. 2012 Apr;27(4):876-90. doi: 10.1002/jbmr.1495.

PMID:
22161748
[PubMed - indexed for MEDLINE]
13.

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment.

Quinlan C, Guegan K, Offiah A, Neill RO, Hiorns MP, Ellard S, Bockenhauer D, Hoff WV, Waters AM.

Pediatr Nephrol. 2012 Apr;27(4):581-8. doi: 10.1007/s00467-011-2046-z. Epub 2011 Nov 20.

PMID:
22101457
[PubMed - indexed for MEDLINE]
14.

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L.

BMC Med Genet. 2011 Sep 8;12:116. doi: 10.1186/1471-2350-12-116.

PMID:
21902834
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Periapical and endodontic status of permanent teeth in patients with hypophosphatemic rickets.

Andersen MG, Beck-Nielsen SS, Haubek D, Hintze H, Gjørup H, Poulsen S.

J Oral Rehabil. 2012 Feb;39(2):144-50. doi: 10.1111/j.1365-2842.2011.02250.x. Epub 2011 Sep 8.

PMID:
21902707
[PubMed - indexed for MEDLINE]
16.

Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.

Kienitz T, Ventz M, Kaminsky E, Quinkler M.

Exp Clin Endocrinol Diabetes. 2011 Jul;119(7):431-5. doi: 10.1055/s-0031-1277162. Epub 2011 May 6. Review.

PMID:
21553362
[PubMed - indexed for MEDLINE]
17.

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

Jap TS, Chiu CY, Niu DM, Levine MA.

Calcif Tissue Int. 2011 May;88(5):370-7. doi: 10.1007/s00223-011-9465-5. Epub 2011 Feb 4.

PMID:
21293852
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate.

David V, Martin A, Hedge AM, Drezner MK, Rowe PS.

Am J Physiol Renal Physiol. 2011 Mar;300(3):F783-91. doi: 10.1152/ajprenal.00304.2010. Epub 2010 Dec 22.

PMID:
21177780
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mycobacterium leprae downregulates the expression of PHEX in Schwann cells and osteoblasts.

Silva SR, Tempone AJ, Silva TP, Costa MR, Pereira GM, Lara FA, Pessolani MC, Esquenazi D.

Mem Inst Oswaldo Cruz. 2010 Aug;105(5):627-32.

PMID:
20835608
[PubMed - indexed for MEDLINE]
Free Article
20.

Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.

Chandran M, Chng CL, Zhao Y, Bee YM, Phua LY, Clarke BL.

Nephron Physiol. 2010;116(3):p17-21. doi: 10.1159/000319318. Epub 2010 Jul 28.

PMID:
20664300
[PubMed - indexed for MEDLINE]

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