Imprinting on chromosome 20: Tissue-specific imprinting and imprinting mutations in the GNAS locus
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference80 articles.
1. XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex;Abramowitz;Proc Natl Acad Sci,2004
2. Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy;Aldred;Am J Med Genet,2002
3. Extralarge XL(alpha)s (XXL(alpha)s), a variant of stimulatory G protein alpha-subunit (Gs(alpha)), is a distinct, membrane-anchored GNAS product that can mimic Gs(alpha);Aydin;Endocrinology,2009
4. Paternal uniparental isodisomy of chromosome 20q-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism;Bastepe;Am J Hum Genet,2001a
5. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: Evidence for a long-range regulatory element within the imprinted GNAS1 locus;Bastepe;Hum Mol Genet,2001b
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