奥尔布赖特遗传性骨营养不良中Gsα基因（GNAS1）43bp新发缺失的特征分析 - Suppr

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超能文献

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.

作者信息

Luttikhuis M E, Wilson L C, Leonard J V, Trembath R C

机构信息

Department of Genetics, University of Leicester, United Kingdom.

出版信息

Genomics. 1994 May 15;21(2):455-7. doi: 10.1006/geno.1994.1297.

DOI:10.1006/geno.1994.1297

PMID:8088846

Abstract

摘要

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Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中Gsα基因（GNAS1）43bp新发缺失的特征分析

Genomics. 1994 May 15;21(2):455-7. doi: 10.1006/geno.1994.1297.

Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良症中腺苷酸环化酶刺激性G蛋白α亚基编码基因的异质性突变。

J Clin Endocrinol Metab. 1993 Jun;76(6):1560-8. doi: 10.1210/jcem.76.6.8388883.

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中编码腺苷酸环化酶刺激性G蛋白的基因发生突变。

N Engl J Med. 1990 May 17;322(20):1412-9. doi: 10.1056/NEJM199005173222002.

A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy.一名患有奥尔布赖特遗传性骨营养不良症的患者，其Gsα基因（GNAS1）存在杂合性4碱基缺失突变。

Genomics. 1992 Aug;13(4):1319-21. doi: 10.1016/0888-7543(92)90056-x.

A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良患者中Gsα基因（GNAS1）第7外显子的一个缺失热点。

Hum Mol Genet. 1995 Oct;4(10):2001-2. doi: 10.1093/hmg/4.10.2001.

GNAS1 mutational analysis in pseudohypoparathyroidism.

Clin Endocrinol (Oxf). 1998 Oct;49(4):525-31.

Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene.Ia型假性甲状旁腺功能减退症：Gsα基因第5和10外显子中的两个新的杂合移码突变。

Hum Genet. 1996 Jan;97(1):73-5. doi: 10.1007/BF00218836.

G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.G蛋白Gsα（GNAS 1）可能是奥尔布赖特遗传性骨营养不良的候选基因，定位于人类染色体20q12 - q13.2。

Genomics. 1991 May;10(1):257-61. doi: 10.1016/0888-7543(91)90508-c.

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测Albright遗传性骨营养不良中Gsα亚基基因的突变。

Proc Natl Acad Sci U S A. 1990 Nov;87(21):8287-90. doi: 10.1073/pnas.87.21.8287.

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中Gsα基因突变的亲本来源

J Med Genet. 1994 Nov;31(11):835-9. doi: 10.1136/jmg.31.11.835.

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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。

Am J Hum Genet. 2003 Apr;72(4):961-74. doi: 10.1086/374566. Epub 2003 Mar 6.

RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.RDCI，即血管活性肠肽受体：一种与2q37缺失相关的奥尔布赖特遗传性骨营养不良特征的候选基因。

J Med Genet. 1997 Apr;34(4):287-90. doi: 10.1136/jmg.34.4.287.

Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.孤立性常染色体显性E型短指症：排除与候选区域2q37和20q13的连锁关系

J Med Genet. 1996 Oct;33(10):873-6. doi: 10.1136/jmg.33.10.873.

A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.一名日本假性甲状旁腺功能减退患者Gsα基因的4个碱基对缺失突变

J Endocrinol Invest. 1996 Apr;19(4):236-41. doi: 10.1007/BF03349874.

Hum Genet. 1996 Jan;97(1):73-5. doi: 10.1007/BF00218836.

Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中Gsα基因突变的亲本来源

J Med Genet. 1994 Nov;31(11):835-9. doi: 10.1136/jmg.31.11.835.

Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37.短指（趾）畸形与智力发育迟缓：一种定位于2q37的类奥尔布赖特遗传性骨营养不良综合征。

Am J Hum Genet. 1995 Feb;56(2):400-7.

Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良症

J Med Genet. 1994 Oct;31(10):779-84. doi: 10.1136/jmg.31.10.779.

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