Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene
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A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNASAn imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locusActivators of G protein signaling in the kidneyThe GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneGene Dosage Effects at the Imprinted Gnas ClusterGNAS locus and pseudohypoparathyroidismCognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of GsalphaGenetic analysis of the Drosophila Gs(alpha) geneImprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegalyPaternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunitDeficiency of the G-protein alpha-subunit G(s)alpha in osteoblasts leads to differential effects on trabecular and cortical boneDisruption of G-protein γ5 subtype causes embryonic lethality in miceTransgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivoLoss of G protein gamma 7 alters behavior and reduces striatal alpha(olf) level and cAMP productionA tripartite paternally methylated region within the Gpr1-Zdbf2 imprinted domain on mouse chromosome 1 identified by meDIP-on-chipMaternal inheritance of the Gnas cluster mutation Ex1A-T affects size, implicating NESP55 in growthPaternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolismTargeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-IbHaematopoietic stem cells depend on Galpha(s)-mediated signalling to engraft bone marrowZac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Transcriptome-wide identification of novel imprinted genes in neonatal mouse brainGenomic imprinting: implications for human disease.Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteinsA comprehensive transcript map of the mouse Gnas imprinted complex.Imprinted Nesp55 influences behavioral reactivity to novel environmentsDNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα)-encoding (GNAS) genomic imprinting domain are associated with performance traitsAlternative Gnas gene products have opposite effects on glucose and lipid metabolism.G(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesisHeterotrimeric G proteins in heart disease.Variable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron.Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated andDiscordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1Heterotopic ossifications in a mouse model of albright hereditary osteodystrophyIdentification of a methylation imprint mark within the mouse Gnas locus.Retrotransposition and genomic imprinting.The role of GNAS and other imprinted genes in the development of obesity.G-protein stimulatory subunit alpha and Gq/11α G-proteins are both required to maintain quiescent stem-like chondrocytes.In vivo functions of heterotrimeric G-proteins: studies in Galpha-deficient mice.
P2860
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P2860
Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@ast
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@en
type
label
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@ast
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@en
prefLabel
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@ast
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@en
P2093
P2860
P356
P1476
Variable and tissue-specific h ...... imprinting of the gsalpha gene
@en
P2093
H Westphal
L S Weinstein
P2860
P304
P356
10.1073/PNAS.95.15.8715
P407
P577
1998-07-01T00:00:00Z