Literature DB >> 23179266

[Fibrous dysplasia].

T Wirth1.   

Abstract

Fibrous dysplasia is a benign intraosseous tumor disease which can be found in a monostotic or polyostotic form. In combination with dermatological and endocrine features it is known as McCune-Albright disease. Fibrous dysplasia originates from a genetic defect that has been identified as a postzygotic mutation of the GNAS gene leading to a malregulation of osteogenesis of the affected part of the bone. The weakening of the bone may result in isolated local pain, pathological fractures or severe deformation of the bones, which in the latter case results in loss of walking ability. Orthopedic treatment offers suitable methods to set and stabilize fractures, to strengthen weak areas of bone and to straighten out and stabilize deformed long bones. The treatment can help many patients to return to a high level of pain-free mobility or help the most affected patients lead a better life with a restricted but individual mobility.

Entities:  

Mesh:

Year:  2012        PMID: 23179266     DOI: 10.1007/s00132-012-1996-6

Source DB:  PubMed          Journal:  Orthopade        ISSN: 0085-4530            Impact factor:   1.087


  13 in total

1.  Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors:  W F Schwindinger; C A Francomano; M A Levine
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

2.  Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the Gs alpha gene.

Authors:  A Shenker; P Chanson; L S Weinstein; P Chi; A M Spiegel; A Lomri; P J Marie
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150

3.  [Apropos of the association of fibromyxomas of the soft tissues with fibrous dysplasia of the bones].

Authors:  A Mazabraud; P Semat; R Roze
Journal:  Presse Med       Date:  1967-10-25       Impact factor: 1.228

4.  [Fibrous dysplasia].

Authors:  K Pollandt; C Engels; M Werner; G Delling
Journal:  Pathologe       Date:  2002-08-21       Impact factor: 1.011

5.  Potent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.

Authors:  Virginie Mariot; Joy Y Wu; Cumhur Aydin; Giovanna Mantovani; Matthew J Mahon; Agnès Linglart; Murat Bastepe
Journal:  Bone       Date:  2010-09-29       Impact factor: 4.398

6.  [Fibrous dysplasia].

Authors:  R Rödl; C Götze
Journal:  Orthopade       Date:  2008-01       Impact factor: 1.087

7.  Surgical treatment of fibrous dysplasia of bone in McCune-Albright syndrome.

Authors:  E Ippolito; R Caterini; P Farsetti; V Potenza
Journal:  J Pediatr Endocrinol Metab       Date:  2002       Impact factor: 1.634

8.  Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone.

Authors:  P Bianco; M Riminucci; A Majolagbe; S A Kuznetsov; M T Collins; M H Mankani; A Corsi; H G Bone; S Wientroub; A M Spiegel; L W Fisher; P G Robey
Journal:  J Bone Miner Res       Date:  2000-01       Impact factor: 6.741

Review 9.  Pathophysiology and medical treatment of pain in fibrous dysplasia of bone.

Authors:  Roland D Chapurlat; Deborah Gensburger; Juan M Jimenez-Andrade; Joseph R Ghilardi; Marilyn Kelly; Patrick Mantyh
Journal:  Orphanet J Rare Dis       Date:  2012-05-24       Impact factor: 4.123

Review 10.  McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.

Authors:  Michael T Collins; Frederick R Singer; Erica Eugster
Journal:  Orphanet J Rare Dis       Date:  2012-05-24       Impact factor: 4.123

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.