Chen IP et al. Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia. J Bone Miner Res. 2009;24(7):1206-1215. PMID: 19257826.
Chen IP et al. A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD). Hum Mol Genet. 2011;20(5):948-961. PMID: 21149338.
Day RA et al. Foramen magnum decompression for cervicomedullary encroachment in craniometaphyseal dysplasia: case report. Neurosurgery. 1997; 41(4):960-964. PMID: 9316062.
Dutra E et al. Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasia. Clin Genet. 2012;81(1)93-95. PMID: 22150416.
Ho AM et al. Role of the mouse ank gene in control of tissue calcification and arthritis. Science. 2000;289(5477):265-270. PMID: 10894769.
Kanaujiya J et al. Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia. Sci Rep. 2018;8(1):15710. PMID: 30356088.
Key LL et al. Treatment of craniometaphyseal dysplasia with calcitriol. J Pediatr. 1988;112(4):583-587. PMID: 3351684.
Nurnberg P et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet. 2001;28(1):37-41. PMID: 11326272.
Pendleton A et al. Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet. 2002;71(4):933-40. PMID: 12297987.
Reichenberger E et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001;68(6):1321-1326. PMID: 11326338.
Richards A et al. Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol. 1996;110(4):328-338. PMID: 8733453.
Rosenthal AK et al. The progressive ankylosis gene product ANK regulates extracellular ATP levels in primary articular chondrocytes. Arthritis Res Ther. 2013;15(5):R154. PMID: 24286344.
Szeri F et al. The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP. PLoS genetics. 2020;16(7):e1008884. PMID: 32639996.
Williams CJ et al. Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. Arthritis Rheum. 2003;48(9):2627–31. PMID: 13130483.
Williams CJ et al. Pathogenesis of calcium pyrophosphate deposition disease. Best Pract Res Clin Rheumatol. 2021;35(4):101718. PMID: 34696986.
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