Literature DB >> 10322399

The Role of Genomic Imprinting of Galpha in the Pathogenesis of Albright Hereditary Osteodystrophy.

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Abstract

Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations of the gene encoding the alpha-subunit of the G protein Gs. The Gsalpha gene is a complex gene that uses various alternative promoters and produces various protein products. Recently, it has been shown that this gene is imprinted in a tissue-specific manner. The role of tissue-specific imprinting of Gsalpha in the pathogenesis of AHO is discussed.

Entities:  

Year:  1999        PMID: 10322399     DOI: 10.1016/s1043-2760(98)00124-6

Source DB:  PubMed          Journal:  Trends Endocrinol Metab        ISSN: 1043-2760            Impact factor:   12.015


  7 in total

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4.  Increasing alternative promoter repertories is positively associated with differential expression and disease susceptibility.

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5.  A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.

Authors:  J Liu; D Litman; M J Rosenberg; S Yu; L G Biesecker; L S Weinstein
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6.  Bilateral simultaneous disc edema and cataract associated with albright hereditary osteodystrophy.

Authors:  Sabyasachi Sengupta; Ravilla D Ravindran; Veena Kannusamy; Varsha Tamrakar
Journal:  Middle East Afr J Ophthalmol       Date:  2012-01

7.  Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female.

Authors:  Pooja Raghavan; Charles M Katz
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  7 in total

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