Calcium pyrophosphate deposition (CPPD) disease (common in older adults) can be
asymptomatic, associated with osteoarthritis, or can present as acute/chronic inflammatory …

ANKH expression, as well as its potential non-PPi transporter functions, plays a variety of
roles in the regulation of cellular events that surround differentiation and mineralization in …

Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive
hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) …

Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause
craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial …

Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by
hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies …

Mice carrying a knock-in mutation (Phe377del) in the Ank gene replicate many skeletal
characteristics of human craniometaphyseal dysplasia, including hyperostotic mandibles …

Pyrophosphate (PPi) is well known as a regulator of calcification, and the ANKH (ANK in
mouse) protein has a role in the membrane transport of PPi. Earlier work concentrated on …

Several monogenic disorders are characterized by abnormal soft tissue mineralization.
Human disorders of ectopic calcification can be caused by:(1) abnormal extracellular …

Craniometaphyseal dysplasia (CMD; OMIM# 123000) is a rare genetic disorder
characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones …

Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is
characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide …