The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
about
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNASImprinting of the human L3MBTL gene, a polycomb family member located in a region of chromosome 20 deleted in human myeloid malignanciesDNA methylation profiling of human chromosomes 6, 20 and 22Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationAn imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locusOscillating evolution of a mammalian locus with overlapping reading frames: an XLalphas/ALEX relay.The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneSynaptosomal-associated protein 25 (SNAP-25) and attention deficit hyperactivity disorder (ADHD): evidence of linkage and association in the Irish populationTwo overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usageGNAS locus and pseudohypoparathyroidismXLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion AlexImprinting 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.Transgenic overexpression of the extra-large Gsα variant XLαs enhances Gsα-mediated responses in the mouse renal proximal tubule in vivoA proline-rich region and nearby cysteine residues target XLalphas to the Golgi complex regionPaternal 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-IbSelective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Genomic imprinting: implications for human disease.Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteinsKaryotyping and analysis of GNAS locus in intramuscular myxomasA comprehensive transcript map of the mouse Gnas imprinted complex.DNA sequence polymorphisms within the bovine guanine nucleotide-binding protein Gs subunit alpha (Gsα)-encoding (GNAS) genomic imprinting domain are associated with performance traitsVariable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron.Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1Identification of a methylation imprint mark within the mouse Gnas locus.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.Postnatal changes in the expression pattern of the imprinted signalling protein XLαs underlie the changing phenotype of deficient mice.Imprints of disease at GNAS1.Detection of functional overlapping genes: simulation and case studies.Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history.A GNAS1 imprinting defect in pseudohypoparathyroidism type IBPotent constitutive cyclic AMP-generating activity of XLαs implicates this imprinted GNAS product in the pathogenesis of McCune-Albright syndrome and fibrous dysplasia of bone.Pseudohypoparathyroidism: one gene, several syndromes.Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Effects of deficiency of the G protein Gsα on energy and glucose homeostasisIdentification of novel imprinted genes in a genome-wide screen for maternal methylation.Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus.
P2860
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P2860
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年学术文章
@wuu
1998年学术文章
@zh-cn
1998年学术文章
@zh-hans
1998年学术文章
@zh-my
1998年学术文章
@zh-sg
1998年學術文章
@yue
1998年學術文章
@zh
1998年學術文章
@zh-hant
name
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@ast
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@en
type
label
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@ast
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@en
prefLabel
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@ast
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@en
P2093
P2860
P356
P1476
The human GNAS1 gene is imprin ...... lelically expressed G proteins
@en
P2093
P2860
P304
10038-10043
P356
10.1073/PNAS.95.17.10038
P407
P577
1998-08-01T00:00:00Z