PMC Links for Gene (Select 56172) - PMC

Eva Morava, Jirko Kühnisch, Jefte M. Drijvers, Joris H. Robben, Cor Cremers, Petra van Setten, Amanda Branten, Sabine Stumpp, Alphons de Jong, Krysta Voesenek, Sascha Vermeer, Angelien Heister, Hedi L. Claahsen-van der Grinten, Charles W. O'Neill, Michèl A. Willemsen, Dirk Lefeber, Peter M. T. Deen, Uwe Kornak, Hannie Kremer, Ron A. Wevers

J Clin Endocrinol Metab. January 1, 2011; 96(1): E189–E198. doi: 10.1210/jc.2010-1539

PMCID:: PMC5393418

Abstract Article

Select item 43626805.

Novel ANKH Amino Terminus Mutation (Pro5Ser) Associated With Early-Onset Calcium Pyrophosphate Disease With Associated Phosphaturia

Barry L. Gruber, Ana Rita Couto, Jácome Bruges Armas, Matthew A. Brown, Kathleen Finzel, Robert A. Terkeltaub

J Clin Rheumatol. Author manuscript; available in PMC 2015 Mar 17.

Published in final edited form as: J Clin Rheumatol. 2012 Jun; 18(4): 192–195. doi: 10.1097/RHU.0b013e3182582c3d

PMCID:: PMC4362680

Abstract Article PDF–494K

Select item 39788516.

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

Abhishek Abhishek, Sally Doherty, Rose Maciewicz, Kenneth Muir, Weiya Zhang, Michael Doherty, Anna M Valdes

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

PMCID:: PMC3978851

Abstract Article PDF–250K

Select item 34173347.

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia

EH Dutra, I-P Chen, TL McGregor, JD Ranells, EJ Reichenberger

Clin Genet. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Clin Genet. 2012 Jan; 81(1): 93–95. doi: 10.1111/j.1399-0004.2011.01700.x

PMCID:: PMC3417334

Article PDF–877K

Select item 29448988.

Novel ANKH Mutation in a Patient with Sporadic Craniometaphyseal Dysplasia

Allison Zajac, Seung-Hak Baek, Imad Salhab, Anne M. Radecki, Sukwha Kim, Hakon Hakonarson, Hyun-Duck Nah

Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 770–776. doi: 10.1002/ajmg.a.33317

PMCID:: PMC2944898

Abstract Article PDF–749K

Select item 17160059.

The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

P Nürnberg, S Tinschert, M Mrug, J Hampe, C R Müller, E Fuhrmann, H S Braun, A Reis

Am J Hum Genet. 1997 Oct; 61(4): 918–923. doi: 10.1086/514880

PMCID:: PMC1716005

Summary Page Browse PDF–932K

Select item 137771110.

Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

L J Andrew, V Brancolini, L S de la Pena, M Devoto, F Caeiro, R Marchegiani, A Reginato, A Gaucher, P Netter, P Gillet, D Loeuille, D J Prockop, A Carr, B F Wordsworth, M Lathrop, S Butcher, E Considine, K Everts, A Nicod, S Walsh, C J Williams

Am J Hum Genet. 1999 Jan; 64(1): 136–145. doi: 10.1086/302186

PMCID:: PMC1377711

Summary PDF–358K

Select item 41999811.

Autosomal Dominant Familial Calcium Pyrophosphate Dihydrate Deposition Disease Is Caused by Mutation in the Transmembrane Protein ANKH

Charlene J. Williams, Yun Zhang, Andrew Timms, Gina Bonavita, Francisco Caeiro, John Broxholme, Jonathan Cuthbertson, Yvonne Jones, Raul Marchegiani, Antonio Reginato, R. Graham G. Russell, B. Paul Wordsworth, Andrew J. Carr, Matthew A. Brown

Am J Hum Genet. 2002 Oct; 71(4): 985–991. Published online 2002 Sep 17. doi: 10.1086/343053

PMCID:: PMC419998

Abstract Article PDF–1.0M

Select item 12936412.

The program of androgen-responsive genes in neoplastic prostate epithelium

Peter S. Nelson, Nigel Clegg, Hugh Arnold, Camari Ferguson, Michael Bonham, James White, Leroy Hood, Biaoyang Lin

Proc Natl Acad Sci U S A. 2002 Sep 3; 99(18): 11890–11895. Published online 2002 Aug 16. doi: 10.1073/pnas.182376299

PMCID:: PMC129364

Abstract Article PDF–630K

Select item 909866913.

The mineralization regulator ANKH mediates cellular efflux of ATP, not pyrophosphate

Flora Szeri, Fatemeh Niaziorimi, Sylvia Donnelly, Nishat Fariha, Mariia Tertyshnaia, Drithi Patel, Stefan Lundkvist, Koen van de Wetering

J Bone Miner Res. Author manuscript; available in PMC 2023 May 1.

Published in final edited form as: J Bone Miner Res. 2022 May; 37(5): 1024–1031. Published online 2022 Feb 28. doi: 10.1002/jbmr.4528

PMCID:: PMC9098669

Abstract Article PDF–1.1M

Select item 737119814.

The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP

Flora Szeri, Stefan Lundkvist, Sylvia Donnelly, Udo F. H. Engelke, Kyu Rhee, Charlene J. Williams, John P. Sundberg, Ron A. Wevers, Ryan E. Tomlinson, Robert S. Jansen, Koen van de Wetering

PLoS Genet. 2020 Jul; 16(7): e1008884. Published online 2020 Jul 8. doi: 10.1371/journal.pgen.1008884

PMCID:: PMC7371198

Abstract Article PDF–1.9M

Select item 620080715.

Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia

Jitendra Kanaujiya, Edward Bastow, Raj Luxmi, Zhifang Hao, Dimitrios Zattas, Mark Hochstrasser, Ernst J. Reichenberger, I-Ping Chen

Sci Rep. 2018; 8: 15710. Published online 2018 Oct 24. doi: 10.1038/s41598-018-34157-5

PMCID:: PMC6200807

Abstract Article PDF–2.1M

Select item 485517116.

Matrix stiffness promotes cartilage endplate chondrocyte calcification in disc degeneration via miR-20a targeting ANKH expression

Ming-Han Liu, Chao Sun, Yuan Yao, Xin Fan, Huan Liu, You-Hong Cui, Xiu-Wu Bian, Bo Huang, Yue Zhou

Sci Rep. 2016; 6: 25401. Published online 2016 May 4. doi: 10.1038/srep25401

PMCID:: PMC4855171

Abstract Article PDF–2.4M

Select item 337620717.

Activation of nuclear factor-kappa B accelerates vascular calcification by inhibiting progressive ankylosis protein homolog expression

Gexin Zhao, Ming-Jiang Xu, Ming-Ming Zhao, Xiao-Yan Dai, Wei Kong, Gerald M. Wilson, Youfei Guan, Cun-Yu Wang, Xian Wang

Kidney Int. Author manuscript; available in PMC 2013 Jan 1.

Published in final edited form as: Kidney Int. 2012 Jul; 82(1): 34–44. Published online 2012 Mar 21. doi: 10.1038/ki.2012.40

PMCID:: PMC3376207

Abstract Article PDF–1.5M

Select item 318919418.

Increased Risk of Temporomandibular Joint Closed Lock: A Case-Control Study of ANKH Polymorphisms

Boyen Huang, Katsu Takahashi, Tomoko Sakata, Honoka Kiso, Manabu Sugai, Kazuma Fujimura, Akira Shimizu, Shinji Kosugi, Tosiya Sato, Kazuhisa Bessho

PLoS One. 2011; 6(10): e25503. Published online 2011 Oct 7. doi: 10.1371/journal.pone.0025503

PMCID:: PMC3189194

Abstract Article PDF–2.1M

Select item 303318619.

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

I-Ping Chen, Liping Wang, Xi Jiang, Hector Leonardo Aguila, Ernst J. Reichenberger

Hum Mol Genet. 2011 Mar 1; 20(5): 948–961. Published online 2010 Dec 13. doi: 10.1093/hmg/ddq541

PMCID:: PMC3033186

Abstract Article PDF–472K

Select item 169870420.

Biochemical and Genetic Analysis of ANK in Arthritis and Bone Disease

Kyle A. Gurley, Richard J. Reimer, David M. Kingsley

Am J Hum Genet. 2006 Dec; 79(6): 1017–1029. Published online 2006 Oct 16. doi: 10.1086/509881

PMCID:: PMC1698704

Abstract Article PDF–1.8M

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