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Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism.

作者信息

Farfel Z, Bourne H R

出版信息

J Clin Endocrinol Metab. 1980 Nov;51(5):1202-4. doi: 10.1210/jcem-51-5-1202.

DOI:10.1210/jcem-51-5-1202
PMID:6252235
Abstract

Erythrocytes of patients with pseudohypoparathyroidism exhibit decreased activity of a membrane protein that is required for functional coupling of hormone receptors and catalytic adenylate cyclase. We observed decreased activity of this coupling protein in platelet extracts obtained from two pseudohypoparathyroid subjects, as compared with those of four normal control subjects. These findings support the hypothesis that generalized deficiency of this coupling protein is the primary biochemical defect of pseydohypoparathyroidism.

摘要

相似文献

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Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism.
J Clin Endocrinol Metab. 1980 Nov;51(5):1202-4. doi: 10.1210/jcem-51-5-1202.
2
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[Pseudohypoparathyroidism: a generalized and multiple disorder in the adenyl cyclase system].[假性甲状旁腺功能减退症:腺苷酸环化酶系统中的一种全身性多系统疾病]
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Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.对GNAS1及重叠转录本的分析确定了散发性奥尔布赖特遗传性骨营养不良患者突变的亲本来源,并揭示了一个可用于观察剪接突变对翻译及未翻译信使核糖核酸影响的模型系统。
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J Med Genet. 1994 Nov;31(11):835-9. doi: 10.1136/jmg.31.11.835.
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Mutations of signal-transducing G proteins in human disease.人类疾病中信号转导G蛋白的突变
J Mol Med (Berl). 1995 May;73(5):221-8. doi: 10.1007/BF00189921.
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Deficient adenylate cyclase regulatory protein in renal membranes from a patient with pseudohypoparathyroidism.
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