人类生长激素释放激素受体中的无义突变导致类似于小个子（lit）小鼠的生长衰竭。 - Suppr

Suppr

超能文献

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

作者信息

Wajnrajch M P, Gertner J M, Harbison M D, Chua S C, Leibel R L

机构信息

Children's Clinical Research Center, New York Hospital Cornell Medical Center, New York 10021, USA.

出版信息

Nat Genet. 1996 Jan;12(1):88-90. doi: 10.1038/ng0196-88.

DOI:10.1038/ng0196-88

PMID:8528260

Abstract

摘要

相似文献

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.人类生长激素释放激素受体中的无义突变导致类似于小个子（lit）小鼠的生长衰竭。

Nat Genet. 1996 Jan;12(1):88-90. doi: 10.1038/ng0196-88.

GHRH receptor defects.生长激素释放激素受体缺陷

J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1431-3.

Molecular basis of the little mouse phenotype and implications for cell type-specific growth.小鼠矮小表型的分子基础及其对细胞类型特异性生长的影响。

Nature. 1993 Jul 15;364(6434):208-13. doi: 10.1038/364208a0.

GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function.矮小小鼠的生长激素释放激素（GHRH）受体在细胞外结构域存在一个错义突变，该突变破坏了受体功能。

Nat Genet. 1993 Jul;4(3):227-32. doi: 10.1038/ng0793-227.

Isolated growth hormone deficiency: testing the little mouse hypothesis in man and exclusion of mutations within the extracellular domain of the growth hormone-releasing hormone receptor.孤立性生长激素缺乏症：在人类中验证“小鼠假说”并排除生长激素释放激素受体细胞外结构域内的突变

Pediatr Res. 1995 Dec;38(6):962-6. doi: 10.1203/00006450-199512000-00022.

Growth hormone-releasing hormone and pituitary somatotrope proliferation.生长激素释放激素与垂体生长激素细胞增殖

Minerva Endocrinol. 2002 Dec;27(4):277-85.

Regulation of the pituitary somatotroph cell by GHRH and its receptor.生长激素释放激素（GHRH）及其受体对垂体生长激素细胞的调节。

Recent Prog Horm Res. 2000;55:237-66; discussion 266-7.

Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene.由于生长激素释放激素（GHRH）受体基因新的剪接突变导致生长激素缺乏的家族成员中垂体前叶大小的变异性。

Clin Endocrinol (Oxf). 2004 Apr;60(4):470-5. doi: 10.1111/j.1365-2265.2004.02003.x.

A little lesson in growth regulation.

Nat Genet. 1996 Jan;12(1):8-9. doi: 10.1038/ng0196-8.

A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene.生长激素释放激素受体（GHRHR）基因中的无义突变（E72X）是印度西部地区家族性孤立性生长激素缺乏症的主要原因：通过对GHRHR基因附近二核苷酸重复多态性的分析提示存在奠基者效应。

Growth Horm IGF Res. 2004 Oct;14(5):394-401. doi: 10.1016/j.ghir.2004.05.001.

引用本文的文献

Signatures of selection detected from whole-genome sequencing indicate that the small body size in dwarf rabbit breeds is caused by polygenic effects with a few major loci.从全基因组测序中检测到的选择特征表明，矮兔品种的小体型是由少数主要基因座的多基因效应引起的。

Anim Genet. 2025 Aug;56(4):e70025. doi: 10.1111/age.70025.

Common and Uncommon Mouse Models of Growth Hormone Deficiency.生长激素缺乏症的常见和罕见小鼠模型。

Endocr Rev. 2024 Nov 22;45(6):818-842. doi: 10.1210/endrev/bnae017.

A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.一个 GHRHR 启动子突变导致一个巴基斯坦血缘家族中孤立性生长激素缺乏症 IV 型。

Front Endocrinol (Lausanne). 2023 Mar 7;14:1066182. doi: 10.3389/fendo.2023.1066182. eCollection 2023.

An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.儿童低血糖概述，包括临床使用的综合实用诊断流程图。

Front Endocrinol (Lausanne). 2021 Aug 2;12:684011. doi: 10.3389/fendo.2021.684011. eCollection 2021.

The role of GPCRs in bone diseases and dysfunctions.G蛋白偶联受体在骨骼疾病及功能障碍中的作用。

Bone Res. 2019 Jul 8;7:19. doi: 10.1038/s41413-019-0059-6. eCollection 2019.

Cartilage-Targeted IGF-1 Treatment to Promote Longitudinal Bone Growth.靶向软骨的 IGF-1 治疗促进纵向骨生长。

Mol Ther. 2019 Mar 6;27(3):673-680. doi: 10.1016/j.ymthe.2019.01.017. Epub 2019 Feb 1.

Growth plate alterations in chronic kidney disease.慢性肾脏病中的生长板改变。

Pediatr Nephrol. 2020 Mar;35(3):367-374. doi: 10.1007/s00467-018-4160-7. Epub 2018 Dec 14.

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.对一大群生长激素缺乏的儿童进行筛查，以检测调节垂体发育和生长激素分泌的基因突变：频率、表型和生长结果。

EBioMedicine. 2018 Oct;36:390-400. doi: 10.1016/j.ebiom.2018.09.026. Epub 2018 Sep 25.

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.基于单分子分子倒置探针的下一代测序panel用于检测垂体功能减退儿童的基因变异

Mol Genet Genomic Med. 2018 May 8;6(4):514-25. doi: 10.1002/mgg3.395.

Growth hormone - past, present and future.生长激素——过去、现在和未来。

Nat Rev Endocrinol. 2018 May;14(5):285-300. doi: 10.1038/nrendo.2018.22. Epub 2018 Mar 16.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验