A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation
about
Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossificationCognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of GsalphaSelective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.Variable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron.Different biochemical properties explain why two equivalent Gα subunit mutants cause unrelated diseasesThe human obesity gene map: the 2000 update.A mouse model for osseous heteroplasiaMechanism of the receptor-catalyzed activation of heterotrimeric G proteins.The human obesity gene map: the 2001 update.Progressive osseous heteroplasia: diagnosis, treatment, and prognosisThe human obesity gene map: the 2002 update.A mutation in the heterotrimeric stimulatory guanine nucleotide binding protein alpha-subunit with impaired receptor-mediated activation because of elevated GTPase activity.A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS geneStudies of the regulation and function of the Gs alpha gene Gnas using gene targeting technology.Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycleMutagenesis of the conserved residue Glu259 of Gsalpha demonstrates the importance of interactions between switches 2 and 3 for activation.Delineation of the structural basis for the activation properties of the dopamine D1 receptor subtypes.Gbetagamma-activated inwardly rectifying K(+) (GIRK) channel activation kinetics via Galphai and Galphao-coupled receptors are determined by Galpha-specific interdomain interactions that affect GDP release rates.The function of interdomain interactions in controlling nucleotide exchange rates in transducin.Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Disease-Causing Mutations in the G Protein Gαs Subvert the Roles of GDP and GTP.Mutational analysis of the GNAS1 exons encoding the stimulatory G protein in five patients with pseudohypoparathyroidism type 1a.The Human Obesity Gene Map: The 2004 Update
P2860
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P2860
A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A novel mutation in the switch ...... inding and receptor activation
@ast
A novel mutation in the switch ...... inding and receptor activation
@en
A novel mutation in the switch ...... inding and receptor activation
@en-gb
A novel mutation in the switch ...... inding and receptor activation
@nl
type
label
A novel mutation in the switch ...... inding and receptor activation
@ast
A novel mutation in the switch ...... inding and receptor activation
@en
A novel mutation in the switch ...... inding and receptor activation
@en-gb
A novel mutation in the switch ...... inding and receptor activation
@nl
prefLabel
A novel mutation in the switch ...... inding and receptor activation
@ast
A novel mutation in the switch ...... inding and receptor activation
@en
A novel mutation in the switch ...... inding and receptor activation
@en-gb
A novel mutation in the switch ...... inding and receptor activation
@nl
P2093
P2860
P356
P1476
A novel mutation in the switch ...... inding and receptor activation
@en
P2093
P2860
P304
23976-23983
P356
10.1074/JBC.273.37.23976
P407
P577
1998-09-01T00:00:00Z