Genetic studies of disorders of calcium crystal deposition
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
pyrophosphate (CPP) crystals in the joint tissues, particularly fibrocartilage and hyaline …