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PMID: 11285295 Published · ppublish English Comment Journal Article Review

Imprints of disease at GNAS1.

The Journal of clinical investigation ·Vol. 107 ·No. 7 ·2001-04-00 ·Pages 793-4

Lalande M

Abstract

暂无摘要

MeSH Terms
Alleles Animals DNA Methylation GTP-Binding Protein alpha Subunits, Gs/genetics Genomic Imprinting Humans Pseudopseudohypoparathyroidism/genetics
Chemicals
GTP-Binding Protein alpha Subunits, Gs
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Lalande M
Department of Genetics and Developmental Biology, School of Medicine, University of Connecticut, 263 Farmington Avenue, Farmington, Connecticut 06030-3301, USA. lalande@neuron.uchc.edu
References (13)
13 references, click to expand
  1. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB.
    J Clin Invest. 2000 Nov;106(9):1167-74 PMID: 11067869
  2. A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2.
    Proc Natl Acad Sci U S A. 1999 Mar 30;96(7):3830-5 PMID: 10097123
  3. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.
    Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287-90 PMID: 2122458
  4. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins.
    Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15475-80 PMID: 9860993
  5. The Role of Genomic Imprinting of Galpha in the Pathogenesis of Albright Hereditary Osteodystrophy.
    Trends Endocrinol Metab. 1999 Apr;10(3):81-85 PMID: 10322399
  6. Imprinting: focusing on the center.
    Curr Opin Genet Dev. 2000 Oct;10(5):550-4 PMID: 10980434
  7. Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.
    J Clin Invest. 2001 Mar;107(6):R31-6 PMID: 11254676
  8. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.
    N Engl J Med. 1990 May 17;322(20):1412-9 PMID: 2109828
  9. Imprinting in Albright's hereditary osteodystrophy.
    J Med Genet. 1993 Feb;30(2):101-3 PMID: 8383205
  10. Genomic imprinting, uniparental disomy and foetal growth.
    Trends Endocrinol Metab. 2000 Sep;11(7):270-5 PMID: 10920383
  11. Mechanisms of genomic imprinting.
    Am J Hum Genet. 2000 Oct;67(4):777-87 PMID: 10986038
  12. Identification of a methylation imprint mark within the mouse Gnas locus.
    Mol Cell Biol. 2000 Aug;20(16):5808-17 PMID: 10913164
  13. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins.
    Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10038-43 PMID: 9707596
Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI12645
Email
lalande@neuron.uchc.edu
Published
2001-04-00
Pages
793-4
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC199585
Subset
IM
Corrections
CommentOn
PMID: 11067869
External Links
PubMed source DOI: 10.1172/JCI12645 PMC Full Text View journal details
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