An imprinted antisense transcript at the human GNAS1 locus.
about
The DNA sequence and comparative analysis of human chromosome 20A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNASThe GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneAn imprinted PEG1/MEST antisense expressed predominantly in human testis and in mature spermatozoaGNAS locus and pseudohypoparathyroidismImprinting 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-subunitTargeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-IbAntisense transcripts with FANTOM2 clone set and their implications for gene regulation.Karyotyping and analysis of GNAS locus in intramuscular myxomasA comprehensive transcript map of the mouse Gnas imprinted complex.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.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 genome-wide investigation of expression characteristics of natural antisense transcripts in liver and muscle samples of pigs.Pseudohypoparathyroidism: one gene, several syndromes.Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.The silence RNA keeps: cis mechanisms of RNA mediated epigenetic silencing in mammals.Epigenetic properties and identification of an imprint mark in the Nesp-Gnasxl domain of the mouse Gnas imprinted locus.GNAS Spectrum of Disorders.MicroRNAs 296 and 298 are imprinted and part of the GNAS/Gnas cluster and miR-296 targets IKBKE and Tmed9.DNA methylation of IGF2, GNASAS, INSIGF and LEP and being born small for gestational age.Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.Long non-coding RNAs and cancer: a new frontier of translational research?Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.Non-Coding RNAs at the Gnas and Snrpn-Ube3a Imprinted Gene Loci and Their Involvement in Hereditary Disorders.Imprinting the Gnas locus.Genomic imprinting and dermatological disease.Lessons learned from the initial sequencing of the pig genome: comparative analysis of an 8 Mb region of pig chromosome 17.The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsPhysiological dysfunctions associated with mutations of the imprinted Gnas locus.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).Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionMice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.
P2860
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P2860
An imprinted antisense transcript at the human GNAS1 locus.
description
2000 nî lūn-bûn
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2000 թուականի Մարտին հրատարակուած գիտական յօդուած
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
An imprinted antisense transcript at the human GNAS1 locus.
@ast
An imprinted antisense transcript at the human GNAS1 locus.
@en
type
label
An imprinted antisense transcript at the human GNAS1 locus.
@ast
An imprinted antisense transcript at the human GNAS1 locus.
@en
prefLabel
An imprinted antisense transcript at the human GNAS1 locus.
@ast
An imprinted antisense transcript at the human GNAS1 locus.
@en
P356
P1476
An imprinted antisense transcript at the human GNAS1 locus.
@en
P2093
Bonthron DT
Hayward BE
P304
P356
10.1093/HMG/9.5.835
P577
2000-03-01T00:00:00Z