Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins - Wikidata - wikimedia - TriplyDB

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

http://www.wikidata.org/entity/Q33591397

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Immunohistochemical expression of neuroendocrine secretory protein-55 (NESP-55) in pituitary adenomas A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS Isoform-specific imprinting of the human PEG1/MEST gene Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus Oscillating 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 gene Two overlapping reading frames in a single exon encode interacting proteins--a novel way of gene usage GNAS locus and pseudohypoparathyroidism XLalphas, the extra-long form of the alpha-subunit of the Gs G protein, is significantly longer than suspected, and so is its companion Alex Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly Paternal 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 DNA Identification of the control region for tissue-specific imprinting of the stimulatory G protein alpha-subunit Paternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolism Targeted deletion of the Nesp55 DMR defines another Gnas imprinting control region and provides a mouse model of autosomal dominant PHP-Ib Evidence of maternal QTL affecting growth and obesity in adult mice 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.Genome-wide analysis reveals a complex pattern of genomic imprinting in mice The pituitary adenylate cyclase-activating polypeptide is a physiological inhibitor of platelet activation.Karyotyping and analysis of GNAS locus in intramuscular myxomas Alternative 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 and Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1 Identification 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 cis The 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 IB Potent 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 heteroplasia 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 homeostasis

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Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

http://www.wikidata.org/entity/Q33591397

description

1998 nî lūn-bûn

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1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年論文

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1998年论文

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Proceedings of the National Academy of Sciences of the United States of America

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Bidirectional imprinting of a ...... biallelically derived proteins

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B E Hayward

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L Strain

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P2860

XL alpha s is a new type of G protein

Organization of the human glucokinase regulator gene GCKR

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

Isolation and characterization of the human Gs alpha gene

Imprinting in Albright's hereditary osteodystrophy

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

Parental origin of transcription from the human GNAS1 gene.

Alternative promoter and 5' exon generate a novel Gs alpha mRNA.

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

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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David T. Bonthron

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28067

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