منابع مشابه
A Mouse Model for Osseous Heteroplasia
GNAS/Gnas encodes G(s)α that is mainly biallelically expressed but shows imprinted expression in some tissues. In Albright Hereditary Osteodystrophy (AHO) heterozygous loss of function mutations of GNAS can result in ectopic ossification that tends to be superficial and attributable to haploinsufficiency of biallelically expressed G(s)α. Oed-Sml is a point missense mutation in exon 6 of the ort...
متن کاملProgressive osseous heteroplasia. Report of a family.
We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isolated dermal ossification is present in her father and younger sister suggesting an autosomal dominant mode of inheritance with variable expressivity or possible somatic mosaicism. This report of a family with progressive osseous heteroplasia contr...
متن کاملProgressive osseous heteroplasia: diagnosis, treatment, and prognosis
Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidi...
متن کاملProgressive osseous heteroplasia: a rare case of late onset.
1 Gluck T. Vaccinate your immunocompromised patients! Rheumatology 2006;45:9–10. 2 BSR National guidelines for the monitoring of second line drugs. London: British Society for Rheumatology, 2000. 3 Summary of Flu immunisation policy – Department of health. http://www.dh.gov.uk/ PolicyAndGuidance/HealthAndSocialCareTopics/Flu. 4 Bridges MJ, Coady D, Kelly CA et al. Factors influencing uptake of ...
متن کاملProgressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans.
CONTEXT Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of ectopic bone formation, and studies in different families have shown that POH is also caused by paternally inherited GNAS mutations. OBJECTIVE Ou...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2012
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0051835