| The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate. | The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.
Szeri F, Niaziorimi F, Donnelly S, Fariha N, Tertyshnaia M, Patel D, Lundkvist S, van de Wetering K., Free PMC Article | 05/21/2022 |
| m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3pAQP1/ANKH axis. | m(6)A-mediated upregulation of AC008 promotes osteoarthritis progression through the miR-328-3p‒AQP1/ANKH axis.
Yang J, Zhang M, Yang D, Ma Y, Tang Y, Xing M, Li L, Chen L, Jin Y, Ma C., Free PMC Article | 04/2/2022 |
| Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1. | Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.
Krzyzanowska AK, Frawley RJ, Damle S, Chen T, Otero M, Cunningham ME., Free PMC Article | 11/27/2021 |
| Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia. | Differences in intracellular localisation of ANKH mutants that relate to mechanisms of calcium pyrophosphate deposition disease and craniometaphyseal dysplasia.
Vijen S, Hawes C, Runions J, Russell RGG, Wordsworth BP, Carr AJ, Pink RC, Zhang Y., Free PMC Article | 01/9/2021 |
| We used human vascular smooth muscle cells (VSMCs) and a rat model of chronic renal failure (CRF), and observed a native protective mechanism by which VC is reduced via the activation of Wnt1 and its transcriptional target ANKH inorganic pyrophosphate transport regulator (ANKH) gene | Wnt1 inhibits vascular smooth muscle cell calcification by promoting ANKH expression.
Chen B, Zhao Y, Han D, Zhao B, Mao Y, Cui ZK, Chu YC, Feng L, Yin S, Wang CY, Wang X, Xu MJ, Zhao G. | 07/18/2020 |
| ANK/ANKH protein carrying craniometaphyseal dysplasia mutations is present only at low levels due to rapid protein degradation. Decreased amounts of functional ANKH and improper subcellular localization are likely to contribute to CMD although these findings do not fully explain the pathogenic mechanisms seen in patients or the mouse model. | Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia.
Kanaujiya J, Bastow E, Luxmi R, Hao Z, Zattas D, Hochstrasser M, Reichenberger EJ, Chen IP., Free PMC Article | 11/23/2019 |
| Craniometaphyseal dysplasia mutations in ANKH diminish hiPSC differentiation into osteoclasts in vitro. | Craniometaphyseal Dysplasia Mutations in ANKH Negatively Affect Human Induced Pluripotent Stem Cell Differentiation into Osteoclasts.
Chen IP, Luxmi R, Kanaujiya J, Hao Z, Reichenberger EJ., Free PMC Article | 08/4/2018 |
| our findings demonstrate that the miR-20a/ANKH axis mediates the stiff matrix- promoted CEP calcification, suggesting that miR-20a and ANKH are potential targets in restraining the progression of IDD. | Matrix stiffness promotes cartilage endplate chondrocyte calcification in disc degeneration via miR-20a targeting ANKH expression.
Liu MH, Sun C, Yao Y, Fan X, Liu H, Cui YH, Bian XW, Huang B, Zhou Y., Free PMC Article | 02/3/2018 |
| Results show that ANK localizes to the trans-Golgi network (TGN), clathrin-coated vesicles and the plasma membrane, and is required for endosomal function and endocytosis | The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Seifert W, Posor Y, Schu P, Stenbeck G, Mundlos S, Klaassen S, Nürnberg P, Haucke V, Kornak U, Kühnisch J. | 08/26/2017 |
| This study validates the association between a functional polymorphism in the 5' UTR of ANKH and Chondrocalcinosis | 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., Free PMC Article | 09/26/2015 |
| Polymorphisms in ALP, ENPP1 and ANKH are important genetic risk factors contributing to Pseudoxanthoma elasticum | Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
Dabisch-Ruthe M, Brock A, Kuzaj P, Charbel Issa P, Szliska C, Knabbe C, Hendig D. | 06/20/2015 |
| ANK was concentrated around crystal deposits and correlated with markers of chondrocyte hypertrophy. These findings support a role for ANK in CPPD crystal formation in cartilage. | 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., Free PMC Article | 09/27/2014 |
| expression levels of type II collagen, aggrecan, and ANK in endplate chondrocytes of experimental group were lower than that of control group and phosphorylation level of JNK in the experimental group which was higher than that in the control group | JNK phosphorylation promotes degeneration of cervical endplate chondrocytes through down-regulation of the expression of ANK in humans.
Xu HG, Song JX, Cheng JF, Zhang PZ, Wang H, Liu P, Lü K, Zhong M. | 05/3/2014 |
| Exploratory tympanotomy might improve the hearing outcome in patients with this syndrome and therefore surgery has a limited audiometric benefit in general | Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation.
Thomeer HG, Morava E, Verbist BM, Cremers CW. | 03/15/2014 |
| Analysis of the present CMD family suggested the presence of a maternal mosaicism in an ANKH mutation, and the mother who was mosaic for the ANKH mutation had no apparent clinical or radiological features of CMD. | Maternal mosaicism of an ANKH mutation in a family with craniometaphyseal dysplasia.
Kato T, Matsumoto H, Chida A, Wakamatsu H, Nonoyama S. | 02/1/2014 |
| The aim of this study was to investigate two mineralization-related genes TNAP and ANKH polymorphisms associated with ankylosing spondylitis (AS) in the North Chinese Han population. | Association of mineralization-related genes TNAP and ANKH polymorphisms with ankylosing spondylitis in the Chinese Han population.
Liu Z, Cui Y, Zhou X, Zhang X, Han J. | 01/11/2014 |
| Neither ANKH nor ENPP1 mutations are the cause of chondrocalcinosis in these Slovakian families. | Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis.
Couto AR, Zhang Y, Timms A, Bruges-Armas J, Sequeiros J, Brown MA. | 03/2/2013 |
| TNF-activated NF-kappaB promotes inflammation-accelerated vascular calcification by inhibiting ankylosis protein homolog expression and consequent pyrophosphate secretion. | Activation of nuclear factor-kappa B accelerates vascular calcification by inhibiting ankylosis protein homolog expression.
Zhao G, Xu MJ, Zhao MM, Dai XY, Kong W, Wilson GM, Guan Y, Wang CY, Wang X., Free PMC Article | 11/3/2012 |
| We report a novel mutation, not previously described, in ANKH exon 1, wherein serine replaces proline, in a case of early-onset severe calcium pyrophosphate disease associated with metabolic abnormalities, with similar findings in the proband's father | 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., Free PMC Article | 10/6/2012 |
| These results confirm data in white Europeans that ANKH is probably not a major determinant of susceptibility to ankylosing spondylitis. | ANKH and susceptibility to and severity of ankylosing spondylitis.
Pimentel-Santos FM, Ligeiro D, Matos M, Mourão AF, Vieira de Sousa E, Pinto P, Ribeiro A, Santos H, Barcelos A, Godinho F, Cruz M, Fonseca JE, Guedes-Pinto H, Trindade H, Brown MA, Branco JC, CORPOREA Study Group. | 05/5/2012 |
| in a cohort study of candidate genes and BMD, a few modest associations were observed between SNPs in or near ALPL and several bone traits, but no association was observed with ANKH | Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.
Cheung CL, Livshits G, Zhou Y, Meigs JB, McAteer JB, Florez JC, Cupples LA, Demissie S, Kiel DP, Karasik D., Free PMC Article | 04/7/2012 |
| Two novel 18 and 12 base pair in-frame deletions are the largest ANKH mutations causing craniometaphyseal dysplasia identified to date. | Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia.
Dutra EH, Chen IP, McGregor TL, Ranells JD, Reichenberger EJ., Free PMC Article | 04/7/2012 |
| the relationship between the type of temporomandibular disorders (TMD) and ANKH polymorphisms | Increased risk of temporomandibular joint closed lock: a case-control study of ANKH polymorphisms.
Huang B, Takahashi K, Sakata T, Kiso H, Sugai M, Fujimura K, Shimizu A, Kosugi S, Sato T, Bessho K., Free PMC Article | 02/4/2012 |
| Phe377del mutation in ANK causes impaired osteoblastogenesis and osteoclastogenesis resulting in hypomineralization and a high bone mass phenotype. | 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., Free PMC Article | 05/28/2011 |
| The ANKH gene was associated with all four studied obesity-related traits, body mass index (BMI), the waist-hip ratio (WHR), the epidermal growth factor receptor (EGFR), and leptin (P<0.0184), and its effects were modulated by sex. | Morphological and biochemical features of obesity are associated with mineralization genes' polymorphisms.
Korostishevsky M, Cohen Z, Malkin I, Ermakov S, Yarenchuk O, Livshits G. | 02/26/2011 |