Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
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Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cisThe role of GNAS and other imprinted genes in the development of obesity.Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionPseudohypoparathyroidism: one gene, several syndromes.Effects of deficiency of the G protein Gsα on energy and glucose homeostasisImprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cellsStudies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsWhere genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism.Human imprinting syndromes.Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.Visual disturbances as a presenting feature of pseudohypoparathyroidismAn epigenetic analysis of SOD1 and VEGF in ALS.
P2860
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P2860
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
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2003 nî lūn-bûn
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2003 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Discordance between genetic an ...... f maternal imprinting at GNAS1
@ast
Discordance between genetic an ...... f maternal imprinting at GNAS1
@en
type
label
Discordance between genetic an ...... f maternal imprinting at GNAS1
@ast
Discordance between genetic an ...... f maternal imprinting at GNAS1
@en
prefLabel
Discordance between genetic an ...... f maternal imprinting at GNAS1
@ast
Discordance between genetic an ...... f maternal imprinting at GNAS1
@en
P2093
P2860
P356
P1476
Discordance between genetic an ...... f maternal imprinting at GNAS1
@en
P2093
Alexander Maret
Changlin Ding
Emily Germain-Lee
Justin Cho
Suzanne Jan de Beur
P2860
P304
P356
10.1086/377136
P407
P577
2003-07-11T00:00:00Z