Genetic studies of disorders of calcium crystal deposition

AE Timms, Y Zhang, RGG Russell, MA Brown - Rheumatology, 2002 - academic.oup.com
Disordered calcification of cartilage and ligaments occurs commonly amongst the elderly,
yet the reasons for this are very poorly understood. Chondrocalcinosis affects 25% of the …

[HTML][HTML] Pathophysiology of articular chondrocalcinosis—role of ANKH

A Abhishek, M Doherty - Nature reviews rheumatology, 2011 - nature.com
Calcium pyrophosphate (CPP) crystal deposition (CPPD) is associated with ageing and
osteoarthritis, and with uncommon disorders such as hyperparathyroidism …

[图书][B] Textbook of rheumatology

WN Kelley, ED Harris, S Ruddy, CB Sledge - 1997 - library.wur.nl
Table of contents: I. Structure and function of joints, connective tissue, and muscle. II.
Immune and inflammatory responses. III. Evaluation of the patient. IV. Special issues of the …

Role of the Mouse ank Gene in Control of Tissue Calcification and Arthritis

AM Ho, MD Johnson, DM Kingsley - Science, 2000 - science.org
Mutation at the mouse progressive ankylosis (ank) locus causes a generalized, progressive
form of arthritis accompanied by mineral deposition, formation of bony outgrowths, and joint …

[HTML][HTML] Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

P Nürnberg, H Thiele, D Chandler, W Höhne… - Nature …, 2001 - nature.com
Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and
sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular …

Mutations in ANKH cause chondrocalcinosis

A Pendleton, MD Johnson, A Hughes, KA Gurley… - The American Journal of …, 2002 - cell.com
Chondrocalcinosis (CC) is a common cause of joint pain and arthritis that is caused by the
deposition of calcium-containing crystals within articular cartilage. Although most cases are …

Biochemical and genetic analysis of ANK in arthritis and bone disease

KA Gurley, RJ Reimer, DM Kingsley - The American Journal of Human …, 2006 - cell.com
Mutations in the progressive ankylosis gene (Ank/ANKH) cause surprisingly different
skeletal phenotypes in mice and humans. In mice, recessive loss-of-function mutations …

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH

CJ Williams, Y Zhang, A Timms, G Bonavita… - The American Journal of …, 2002 - cell.com
Familial autosomal dominant calcium pyrophosphate dihydrate (CPPD) chondrocalcinosis
has previously been mapped to chromosome 5p15. We have identified a mutation in the …

Mineral formation in joints caused by complete or joint‐specific loss of ANK function

KA Gurley, H Chen, C Guenther… - Journal of Bone and …, 2006 - academic.oup.com
To reveal the ANK complete loss of function phenotype in mice, we generated conditional
and null alleles. Mice homozygous for the null allele exhibited widespread joint …

[HTML][HTML] Updated treatment for calcium pyrophosphate deposition disease: an insight

SM Iqbal, S Qadir, HM Aslam, MA Qadir - Cureus, 2019 - ncbi.nlm.nih.gov
Calcium pyrophosphate disease (CPPD) is caused by the deposition of calcium
pyrophosphate (CPP) crystals in the joint tissues, particularly fibrocartilage and hyaline …