Familial calcium crystal diseases: what have we learned?

Current Opinion in Rheumatology
I MaldonadoA J Reginato

Abstract

The spectrum of heterotopic calcification or ossification is expanding because of the reports of several kindreds with calcium pyrophosphate deposition disease, apatite deposition disease, and others with less common syndromes associated with extracellular matrix calcification, such as fibrodysplasia ossificans progressiva and related syndromes. Genomic DNA studies in both humans and mice provide a shortcut to understanding the genetic basis of promotion and prevention of ECM calcification. Mutation in the COL2A1 gene has been identified in one family with spondyloepiphyseal dysplasia and calcium pyrophosphate and apatite crystalline deposits. In another kindred with precocious osteoarthritis without spondyloepiphyseal dysplasia, the phenotype was linked to markers of chromosome 8. In four other kindreds, the phenotypes were linked to an area of chromosome 5p. Two genes located in this region, which are expressed in articular cartilage, are being investigated as possible calcium pyrophosphate deposition disease genes. The results of linkage studies in three kindreds with articular/periarticular ADD with the COL2A1 gene were noninformative. Two different mouse mutations, the ank/ank and the ttw/ttw mice, are associated with intr...Continue Reading

References

May 15, 1992·Archives of Biochemistry and Biophysics·I FunakoshiM Tsukahara
May 1, 1973·Arthritis and Rheumatism·R B Cannon, F R Schmid
Nov 1, 1971·The British Journal of Dermatology·C G Brook, H B Valman
Oct 1, 1981·The American Journal of Medicine·J C MarcosR P Laguens
Aug 1, 1984·European Journal of Pediatrics·C MaayanJ Bar Ziv
Aug 1, 1983·Annals of the Rheumatic Diseases·V J Hajiroussou, M Webley
Jul 1, 1995·Human Molecular Genetics·A E HughesM Doherty
Aug 22, 1996·The New England Journal of Medicine·A B ShafritzF S Kaplan
Jan 1, 1996·Blood Cells, Molecules & Diseases·E BeutlerM Chorney
Sep 1, 1996·Current Opinion in Rheumatology·M L Raff, P H Byers
Jun 30, 1997·Revue Du Rhumatisme : Joint, Bone, Spine Diseases·E M ShoreF S Kaplan
Feb 12, 1998·The Journal of Biological Chemistry·W Jahnen-DechentM Blessing
Feb 11, 1998·Mammalian Genome : Official Journal of the International Mammalian Genome Society·A OkawaY Nakamura
Jun 13, 1998·American Journal of Human Genetics·D Beltrán-Valero de BernabéS R de Córdoba
Nov 30, 1998·Mechanisms of Development·E StanleyR P Harvey
Jan 23, 1999·American Journal of Human Genetics·L J AndrewC J Williams
Feb 13, 1999·Nature Genetics·T SchinkeG Karsenty
Feb 13, 1999·Nature Genetics·H Watanabe, Y Yamada
Mar 24, 1999·Arthritis and Rheumatism·D HolderbaumR W Moskowitz
Mar 24, 1999·Arthritis and Rheumatism·L M RyanH S Cheung
Mar 27, 1999·European Journal of Human Genetics : EJHG·F AbidiC E Schwartz
Oct 1, 1994·The Journal of the American Academy of Orthopaedic Surgeons·F S KaplanM A Zasloff
Oct 18, 2000·Endocrinology and Metabolism Clinics of North America·E M Brown
Dec 21, 2000·Current Rheumatology Reports·A J ReginatoP Netter
Feb 22, 2002·Arthritis and Rheumatism·William P. Arend

❮ Previous
Next ❯

Citations

Jun 15, 2007·Zeitschrift für Rheumatologie·M WinzerM Aringer
Oct 20, 2009·Zeitschrift für Rheumatologie·M WinzerM Aringer
May 16, 2002·Current Rheumatology Reports·Irama MaldonadoAntonio J Reginato
Feb 15, 2002·British Dental Journal·S Greaves, A Fordyce
May 1, 2002·Current Opinion in Rheumatology·Kanyakorn Jaovisidha, Ann K Rosenthal
Jan 7, 2010·Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases·Susana RoveranoSergio O Paira
Jan 23, 2009·Annals of Plastic Surgery·Jamal M BullocksDavid T Netscher
Jul 17, 2007·The Spine Journal : Official Journal of the North American Spine Society·Helen E GruberEdward N Hanley

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2021 Meta ULC. All rights reserved