Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
about
Immunohistochemical expression of neuroendocrine secretory protein-55 (NESP-55) in pituitary adenomasA novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNASIsoform-specific imprinting of the human PEG1/MEST geneDiverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading framesDiagnostic 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 geneTwo 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.High-resolution analysis of cytosine methylation in ancient DNAIdentification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunitPaternal 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-IbEvidence of maternal QTL affecting growth and obesity in adult miceSelective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Genome-wide analysis reveals a complex pattern of genomic imprinting in miceThe pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation.Karyotyping and analysis of GNAS locus in intramuscular myxomasAlternative Gnas gene products have opposite effects on glucose and lipid metabolism.The impact of genomic imprinting for neurobehavioral and developmental disorders.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 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.Evidence for a prostate cancer-susceptibility locus on chromosome 20.Genetic linkage and imprinting effects on body mass index in children and young adults.Imprints of disease at GNAS1.Constitutive expression of Gsα(R201C) in mice produces a heritable, direct replica of human fibrous dysplasia bone pathology and demonstrates its natural history.Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.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.A mouse model for osseous heteroplasiaEvidence 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 homeostasis
P2860
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P2860
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
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
name
Bidirectional imprinting of a ...... biallelically derived proteins
@ast
Bidirectional imprinting of a ...... biallelically derived proteins
@en
type
label
Bidirectional imprinting of a ...... biallelically derived proteins
@ast
Bidirectional imprinting of a ...... biallelically derived proteins
@en
prefLabel
Bidirectional imprinting of a ...... biallelically derived proteins
@ast
Bidirectional imprinting of a ...... biallelically derived proteins
@en
P2093
P2860
P356
P1476
Bidirectional imprinting of a ...... biallelically derived proteins
@en
P2093
P2860
P304
15475-15480
P356
10.1073/PNAS.95.26.15475
P407
P577
1998-12-01T00:00:00Z