Literature DB >> 15116703

Inherited ossifying diseases.

Chantal Job-Deslandre1.   

Abstract

Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications. Fibrodysplasia Ossificans Progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on chromosome 4 or 17. Progressive Osseous Heteroplasia (HOP), more recently described, shares some similarities with Albrights hereditary osteodystrophy. In HOP, the intramembranous ossifications progressively developped from the dermis to the deeper layer. The genetic abnormality involved the GNAS 1 gene leading to an inactivation of the alpha subunit of the G protein-complex. Some therapeutic approaches have been tried: angiogenesis inhibition, mast cell inhibition; others remained in project: BMP 4 inhibition; actually there is no proved efficacy of any of them.

Entities:  

Mesh:

Year:  2004        PMID: 15116703     DOI: 10.1016/s1297-319x(03)00130-1

Source DB:  PubMed          Journal:  Joint Bone Spine        ISSN: 1297-319X            Impact factor:   4.929


  5 in total

1.  Adipogenesis and osteoblastogenesis: trans-differentiation in the pathophysiology of bone disorders.

Authors:  Ch Savopoulos; Ch Dokos; G Kaiafa; A Hatzitolios
Journal:  Hippokratia       Date:  2011-01       Impact factor: 0.471

2.  Myositis ossificans traumatica of the deltoid ligament in a 34 year old recreational ice hockey player with a 15 year post-trauma follow-up: a case report and review of the literature.

Authors:  Brad Muir
Journal:  J Can Chiropr Assoc       Date:  2010-12

3.  [Fibrodysplasia ossificans progressiva. Anesthetic management of a 2-year-old child].

Authors:  T Iber; S Klösel; B Schoenes; K Zacharowski
Journal:  Anaesthesist       Date:  2010-06       Impact factor: 1.041

4.  Chronic ulcers, calcification and calcified fibrous tumours: phenotypic manifestations of a congenital disorder of heterotopic ossification.

Authors:  Susanne Kupitz; Stuart Enoch; Keith G Harding
Journal:  Int Wound J       Date:  2007-09       Impact factor: 3.315

5.  Evolutionary mutant models for human disease.

Authors:  R Craig Albertson; William Cresko; H William Detrich; John H Postlethwait
Journal:  Trends Genet       Date:  2008-12-26       Impact factor: 11.639

  5 in total

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