Parental origin of transcription from the human GNAS1 gene.
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 G(s)alpha gene GNAS1 in the pathogenesis of acromegalyPaternal versus maternal transmission of a stimulatory G-protein alpha subunit knockout produces opposite effects on energy metabolismSelective 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 proteinsVariable 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.The role of GNAS and other imprinted genes in the development of obesity.A GNAS1 imprinting defect in pseudohypoparathyroidism type IBEffects of deficiency of the G protein Gsα on energy and glucose homeostasisImprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cellsStudies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha geneAutosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteinsThe GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsPseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Increased insulin sensitivity in Gsalpha knockout mice.Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.GNAS1 mutational analysis in pseudohypoparathyroidism
P2860
Q24531505-CBFB43FE-D48A-4EC1-9AAE-EB1E813BEE52Q28360510-60CA9BCE-6F24-486E-A714-9FA09879D11EQ28593512-BA303F15-03FA-4C44-9A1A-9F5AF26FBABFQ31456359-F0B070DD-419D-4817-8510-DF219A631AE5Q33541538-26A1CD56-3171-4B79-AE20-EAC174E55FF5Q33591397-3B20776D-FFD9-41FD-A563-FB8DA3386BB3Q33883551-7806F058-C62C-4454-B675-58838E9A0644Q33905190-313BD34B-F2FD-4BE2-B1FA-B02E57E74CD5Q33964982-21A5A56B-9CAA-4628-A949-407E0EAD8968Q34099397-06ED70AB-7EB8-4AC1-8152-028DB89D977AQ34457845-0E96E6C9-5A86-4D0F-AEAB-A028E9E4D6CEQ34883776-5DE3B99D-A729-40A6-83CA-A6F7A83F58C6Q35613804-24E9A6FA-374C-444A-8096-D58B0AEDE387Q36076341-C4587A5B-7289-4CA0-B3EE-46C7CA24658EQ36214949-214A42A9-DE14-4073-B69B-B45910CB36D0Q36259714-A0D6E5D4-A555-44E3-A2B7-389A80931F15Q36283882-4582A370-5D2E-4525-8506-C0E45BDB04AEQ37165427-618E74B3-A402-4B77-9278-985958C11B4EQ38816341-E4D657C9-9993-4947-936B-685381DC65C5Q43556638-53B868FC-24F6-4D27-B289-8CE552FD8370Q53938819-200BD7A7-5ECB-497D-9067-C5CB61E56097Q56459489-C2057E72-385F-499A-9810-FAFFCB6C427C
P2860
Parental origin of transcription from the human GNAS1 gene.
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Parental origin of transcription from the human GNAS1 gene.
@ast
Parental origin of transcription from the human GNAS1 gene.
@en
type
label
Parental origin of transcription from the human GNAS1 gene.
@ast
Parental origin of transcription from the human GNAS1 gene.
@en
prefLabel
Parental origin of transcription from the human GNAS1 gene.
@ast
Parental origin of transcription from the human GNAS1 gene.
@en
P2860
P356
P1476
Parental origin of transcription from the human GNAS1 gene
@en
P2093
C M Gosden
R Campbell
P2860
P304
P356
10.1136/JMG.31.8.607
P407
P577
1994-08-01T00:00:00Z