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Items: 1 to 20 of 97

1.

Novel ANKH amino terminus mutation (Pro5Ser) associated with early-onset calcium pyrophosphate disease with associated phosphaturia.

Gruber BL, Couto AR, Armas JB, Brown MA, Finzel K, Terkeltaub RA.

J Clin Rheumatol. 2012 Jun;18(4):192-5. doi: 10.1097/RHU.0b013e3182582c3d.

2.

Pathophysiology of articular chondrocalcinosis--role of ANKH.

Abhishek A, Doherty M.

Nat Rev Rheumatol. 2011 Feb;7(2):96-104. doi: 10.1038/nrrheum.2010.182. Epub 2010 Nov 23. Review.

PMID:
21102543
3.

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.

Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA.

Am J Hum Genet. 2002 Oct;71(4):985-91. Epub 2002 Sep 17.

4.

Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.

Couto AR, Zhang Y, Timms A, Bruges-Armas J, Sequeiros J, Brown MA.

Rheumatol Int. 2012 Sep;32(9):2745-51. doi: 10.1007/s00296-011-2022-8. Epub 2011 Aug 3.

PMID:
21811784
5.

The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease.

Netter P, Bardin T, Bianchi A, Richette P, Loeuille D.

Joint Bone Spine. 2004 Sep;71(5):365-8. Review.

PMID:
15474385
6.

Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease.

Williams CJ, Pendleton A, Bonavita G, Reginato AJ, Hughes AE, Peariso S, Doherty M, McCarty DJ, Ryan LM.

Arthritis Rheum. 2003 Sep;48(9):2627-31.

7.

Genetics and mechanisms of crystal deposition in calcium pyrophosphate deposition disease.

Tsui FW.

Curr Rheumatol Rep. 2012 Apr;14(2):155-60. doi: 10.1007/s11926-011-0230-6. Review.

PMID:
22198832
8.

Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene.

Williams CJ.

Curr Opin Rheumatol. 2003 May;15(3):326-31. Review.

PMID:
12707589
10.

The CPPDD-associated ANKH M48T mutation interrupts the interaction of ANKH with the sodium/phosphate cotransporter PiT-1.

Wang J, Tsui HW, Beier F, Tsui FW.

J Rheumatol. 2009 Jun;36(6):1265-72. doi: 10.3899/jrheum.081118. Epub 2009 Apr 15.

PMID:
19369455
11.

Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation.

Baynam G, Goldblatt J, Schofield L.

Am J Med Genet A. 2009 Jun;149A(6):1331-3. doi: 10.1002/ajmg.a.32875. No abstract available.

PMID:
19449425
12.

Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene.

McKee S, Pendleton A, Dixey J, Doherty M, Hughes A.

Epilepsia. 2004 Oct;45(10):1258-60.

13.

Mutations in ANKH cause chondrocalcinosis.

Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM.

Am J Hum Genet. 2002 Oct;71(4):933-40. Epub 2002 Sep 20.

14.

Biochemical and genetic analysis of ANK in arthritis and bone disease.

Gurley KA, Reimer RJ, Kingsley DM.

Am J Hum Genet. 2006 Dec;79(6):1017-29. Epub 2006 Oct 16.

15.

Familial chondrocalcinosis due to calcium pyrophosphate dihydrate crystal deposition in English families.

Doherty M, Hamilton E, Henderson J, Misra H, Dixey J.

Br J Rheumatol. 1991 Feb;30(1):10-5.

PMID:
1846765
16.

Calcium pyrophosphate deposition disease: a review of epidemiologic findings.

Abhishek A.

Curr Opin Rheumatol. 2016 Mar;28(2):133-9. doi: 10.1097/BOR.0000000000000246. Review.

PMID:
26626724
17.

The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.

Abhishek A, Doherty S, Maciewicz R, Muir K, Zhang W, Doherty M, Valdes AM.

Arthritis Res Ther. 2014 Jan 27;16(1):R25. doi: 10.1186/ar4453.

18.

Genetics of chondrocalcinosis.

Zaka R, Williams CJ.

Osteoarthritis Cartilage. 2005 Sep;13(9):745-50. Review.

19.

[Calcium pyrophosphate dihydrate crystal induced arthropathy].

Announ N, Guerne PA.

Rev Med Suisse. 2007 Mar 21;3(103):740-2, 744, 746. Review. French.

PMID:
17458152
20.

[Calcium pyrophosphate dihydrate-crystal induced arthropathy].

Schneider Internist-Rheumatologe Chefarzt Der Abteilung Für Rheumatologie P, Schneider I.

Z Rheumatol. 2004 Feb;63(1):10-21. Review. German.

PMID:
14991274

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