Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. a cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells.
about
The GNAS complex locus and human diseases associated with loss-of-function mutations or epimutations within this imprinted geneSelective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Variable 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 GNAS1Heterotopic ossifications in a mouse model of albright hereditary osteodystrophyDifferential expression of guanosine triphosphate binding proteins in men at high and low risk for the future development of alcoholism.Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type IaMuscarinic receptors on intact human fibroblasts. Absence of receptor activity in adult skin cells.Increase of the 40,000-mol wt pertussis toxin substrate (G protein) in the failing human heartImpaired formation of beta-adrenergic receptor-nucleotide regulatory protein complexes in pseudohypoparathyroidism.GNAS Spectrum of Disorders.Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy.Membrane association of soluble protein activators of rat liver adenylate cyclase. Evidence for distinctness from the guanine nucleotide-binding stimulating protein (Ns).Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene.Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.
P2860
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P2860
Deficient guanine nucleotide regulatory unit activity in cultured fibroblast membranes from patients with pseudohypoparathyroidism type I. a cause of impaired synthesis of 3',5'-cyclic AMP by intact and broken cells.
description
1983 nî lūn-bûn
@nan
1983 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@ast
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@en
type
label
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@ast
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@en
prefLabel
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@ast
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@en
P2093
P2860
P356
P1476
Deficient guanine nucleotide r ...... MP by intact and broken cells.
@en
P2093
P2860
P304
P356
10.1172/JCI110971
P407
P577
1983-07-01T00:00:00Z