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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.


The Role of ANK in Calcium Pyrophosphate Deposition Disease.

Mitton-Fitzgerald E, Gohr CM, Bettendorf B, Rosenthal AK.

Curr Rheumatol Rep. 2016 May;18(5):25. doi: 10.1007/s11926-016-0574-z. Review.


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.


Role of the progressive ankylosis gene in cartilage mineralization.

Zaka R, Williams CJ.

Curr Opin Rheumatol. 2006 Mar;18(2):181-6. Review.


Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Morava E, Kühnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O'Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA.

J Clin Endocrinol Metab. 2011 Jan;96(1):E189-98. doi: 10.1210/jc.2010-1539. Epub 2010 Oct 13.


Mineral formation in joints caused by complete or joint-specific loss of ANK function.

Gurley KA, Chen H, Guenther C, Nguyen ET, Rountree RB, Schoor M, Kingsley DM.

J Bone Miner Res. 2006 Aug;21(8):1238-47.


Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene.

Williams CJ.

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


Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

Chen IP, Wang CJ, Strecker S, Koczon-Jaremko B, Boskey A, Reichenberger EJ.

J Bone Miner Res. 2009 Jul;24(7):1206-15. doi: 10.1359/jbmr.090218.


Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.

Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S.

Nat Genet. 2001 May;28(1):37-41.


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.


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.


Role of the mouse ank gene in control of tissue calcification and arthritis.

Ho AM, Johnson MD, Kingsley DM.

Science. 2000 Jul 14;289(5477):265-70.


A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Chen IP, Wang L, Jiang X, Aguila HL, Reichenberger EJ.

Hum Mol Genet. 2011 Mar 1;20(5):948-61. doi: 10.1093/hmg/ddq541. Epub 2010 Dec 13.


Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Kornak U, Brancati F, Le Merrer M, Lichtenbelt K, Höhne W, Tinschert S, Garaci FG, Dallapiccola B, Nürnberg P.

Am J Med Genet A. 2010 Apr;152A(4):870-4. doi: 10.1002/ajmg.a.33301.


Upregulation of ANK protein expression in joint tissue in calcium pyrophosphate dihydrate crystal deposition disease.

Uzuki M, Sawai T, Ryan LM, Rosenthal AK, Masuda I.

J Rheumatol. 2014 Jan;41(1):65-74. doi: 10.3899/jrheum.111476. Epub 2013 Dec 1.


Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Zajac A, Baek SH, Salhab I, Radecki MA, Kim S, Hakonarson H, Nah HD.

Am J Med Genet A. 2010 Mar;152A(3):770-6. doi: 10.1002/ajmg.a.33317.


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.


Microcytosis in ank/ank mice and the role of ANKH in promoting erythroid differentiation.

Wang J, Wang C, Tsui HW, Las Heras F, Cheng EY, Iscove NN, Chiu B, Inman RD, Pritzker KP, Tsui FW.

Exp Cell Res. 2007 Dec 10;313(20):4120-9. Epub 2007 Sep 20.


Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia.

Liu Y, Dutra EH, Reichenberger EJ, Chen IP.

J Negat Results Biomed. 2016 Oct 26;15(1):18.

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