Drug repositioning for a rare genetic disorder progressive osseous heteroplasia (POH)
نویسندگان
چکیده
منابع مشابه
Progressive 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 ...
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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...
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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...
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Progressive osseous heteroplasia (POH) is a rare autosomal dominant disorder of mesenchymal differentiation characterized by progressive heterotopic ossification (HO) of dermis, deep connective tissues and skeletal muscle. Usually, initial bone formation occurs during infancy as primary osteoma cutis (OC) then progressively extending into deep connective tissues and skeletal muscle over childho...
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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...
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ژورنال
عنوان ژورنال: ABI Genetika
سال: 2019
ISSN: 0534-0012,1820-6069
DOI: 10.2298/gensr1901347g