Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
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The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneIncreased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophyG(s)alpha deficiency in adipose tissue leads to a lean phenotype with divergent effects on cold tolerance and diet-induced thermogenesisHeterotopic ossifications in a mouse model of albright hereditary osteodystrophyThe role of GNAS and other imprinted genes in the development of obesity.Bone mineral density in pseudohypoparathyroidism type 1a.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.Effects of deficiency of the G protein Gsα on energy and glucose homeostasisProgressive osseous heteroplasia: diagnosis, treatment, and prognosisMadelung-like deformity in pseudohypoparathyroidism type 1bGNAS Spectrum of Disorders.Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.Skeletal progenitors and the GNAS gene: fibrous dysplasia of bone read through stem cells.Studies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy.Ablation of the Stimulatory G Protein α-Subunit in Renal Proximal Tubules Leads to Parathyroid Hormone-Resistance With Increased Renal Cyp24a1 mRNA Abundance and Reduced Serum 1,25-Dihydroxyvitamin D.Severe obesity and insulin resistance due to deletion of the maternal Gsalpha allele is reversed by paternal deletion of the Gsalpha imprint control region.The GNAS Locus: Quintessential Complex Gene Encoding Gsalpha, XLalphas, and other Imprinted TranscriptsCentral nervous system imprinting of the G protein G(s)alpha and its role in metabolic regulation.Physiological dysfunctions associated with mutations of the imprinted Gnas locus.GNAS haploinsufficiency leads to subcutaneous tumor formation with collagen and elastin deposition and calcification.Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidism.Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruptionGNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Two cases of pseudohypoparathyroidism type ia in duozygotic twins with different phenotypes.Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.A novel GNAS mutation in an infant boy with pseudohypoparathyroidism type Ia and normal serum calcium and phosphate levels
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P2860
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
description
2004 nî lūn-bûn
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2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
@en
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
@nl
type
label
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
@en
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
@nl
prefLabel
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
@en
Biallelic expression of the Gsalpha gene in human bone and adipose tissue.
@nl
P2093
P356
P1476
Biallelic expression of the Gsalpha gene in human bone and adipose tissue
@en
P2093
Andrea G Lania
Anna Spada
Cecilia Pedroni
Marcello Filopanti
Marco Locatelli
Paolo Beck-Peccoz
Sara Bondioni
P304
P356
10.1210/JC.2004-0558
P407
P577
2004-12-01T00:00:00Z