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Zhou, V. ANKH Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4676 (accessed on 29 September 2026).
Zhou V. ANKH Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4676. Accessed September 29, 2026.
Zhou, Vicky. "ANKH Gene" Encyclopedia, https://encyclopedia.pub/entry/4676 (accessed September 29, 2026).
Zhou, V. (2020, December 24). ANKH Gene. In Encyclopedia. https://encyclopedia.pub/entry/4676
Zhou, Vicky. "ANKH Gene." Encyclopedia. Web. 24 December, 2020.
ANKH Gene
Edit

ANKH inorganic pyrophosphate transport regulator

genes

References

  1. Addison WN, Azari F, Sørensen ES, Kaartinen MT, McKee MD. Pyrophosphateinhibits mineralization of osteoblast cultures by binding to mineral,up-regulating osteopontin, and inhibiting alkaline phosphatase activity. J BiolChem. 2007 May 25;282(21):15872-83.
  2. Chen IP, Luxmi R, Kanaujiya J, Hao Z, Reichenberger EJ. CraniometaphysealDysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem CellDifferentiation into Osteoclasts. Stem Cell Reports. 2017 Nov 14;9(5):1369-1376. doi: 10.1016/j.stemcr.2017.09.016.
  3. Chen IP, Wang L, Jiang X, Aguila HL, Reichenberger EJ. A Phe377del mutation inANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). Hum Mol Genet. 2011 Mar 1;20(5):948-61.doi: 10.1093/hmg/ddq541.
  4. Gurley KA, Reimer RJ, Kingsley DM. Biochemical and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet. 2006 Dec;79(6):1017-29.
  5. Korostishevsky M, Vistoropsky Y, Malkin I, Kobyliansky E, Livshits G.Anthropometric and bone-related biochemical factors are associated with differenthaplotypes of ANKH locus. Ann Hum Biol. 2008 Sep-Oct;35(5):535-46. doi:10.1080/03014460802304588.
  6. Malkin I, Dahm S, Suk A, Kobyliansky E, Toliat M, Ruf N, Livshits G, Nürnberg P. Association of ANKH gene polymorphisms with radiographic hand bone size andgeometry in a Chuvasha population. Bone. 2005 Feb;36(2):365-73.
  7. Malkin I, Ermakov S, Kobyliansky E, Livshits G. Strong association betweenpolymorphisms in ANKH locus and skeletal size traits. Hum Genet. 2006Aug;120(1):42-51.
  8. 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. Heterozygous mutationsin ANKH, the human ortholog of the mouse progressive ankylosis gene, result incraniometaphyseal dysplasia. Nat Genet. 2001 May;28(1):37-41.
  9. 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. Mutations in ANKH cause chondrocalcinosis. Am J HumGenet. 2002 Oct;71(4):933-40.
  10. Reichenberger E, Chen IP. Craniometaphyseal Dysplasia, Autosomal Dominant.2007 Aug 27 [updated 2020 Jun 11]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1461/
  11. Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST,Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R,Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR.Autosomal dominant craniometaphyseal dysplasia is caused by mutations in thetransmembrane protein ANK. Am J Hum Genet. 2001 Jun;68(6):1321-6.
  12. Tsui HW, Inman RD, Paterson AD, Reveille JD, Tsui FW. ANKH variants associatedwith ankylosing spondylitis: gender differences. Arthritis Res Ther.2005;7(3):R513-25.
  13. Williams CJ. The role of ANKH in pathologic mineralization of cartilage. Curr Opin Rheumatol. 2016 Mar;28(2):145-51. doi: 10.1097/BOR.0000000000000247. Review.
  14. Zaka R, Williams CJ. Genetics of chondrocalcinosis. Osteoarthritis Cartilage. 2005 Sep;13(9):745-50. Review.
  15. Zaka R, Williams CJ. Role of the progressive ankylosis gene in cartilagemineralization. Curr Opin Rheumatol. 2006 Mar;18(2):181-6. Review.
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