在首例经基因证实的生长激素不敏感的印度裔患者中发现一种新型生长激素受体（GHR）变体。 - Suppr

Suppr

超能文献

A novel GHR variant in the first patient of Indian origin with genetically proven growth hormone insensitivity.

作者信息

Nikith Zagabathina Siddu, Sannappa Raghu M, Sarathi Vijaya

机构信息

Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bengaluru, Karnataka, India.

Department of Endocrinology, Sapthagiri Institute of Medical Sciences and Research Centre, Bengaluru, Karnataka, India.

出版信息

Indian J Endocrinol Metab. 2022 Mar-Apr;26(2):190-191. doi: 10.4103/ijem.ijem_24_22. Epub 2022 Apr 29.

DOI:10.4103/ijem.ijem_24_22

PMID:35873929

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9302426/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cf16/9302426/9811d2f9a21c/IJEM-26-190-g001.jpg

相似文献

A novel GHR variant in the first patient of Indian origin with genetically proven growth hormone insensitivity.

Indian J Endocrinol Metab. 2022 Mar-Apr;26(2):190-191. doi: 10.4103/ijem.ijem_24_22. Epub 2022 Apr 29.

Mouse models of growth hormone insensitivity.

Rev Endocr Metab Disord. 2021 Mar;22(1):17-29. doi: 10.1007/s11154-020-09600-6. Epub 2020 Oct 10.

Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.

Clin Endocrinol (Oxf). 2020 Apr;92(4):331-337. doi: 10.1111/cen.14148. Epub 2020 Jan 22.

A novel mutation of exon 7 in growth hormone receptor mRNA in a patient with growth hormone insensitivity syndrome and neurofibromatosis type I.

Int J Mol Med. 2012 Sep;30(3):713-7. doi: 10.3892/ijmm.2012.1048. Epub 2012 Jun 28.

A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.

Horm Res Paediatr. 2013;80(6):397-405. doi: 10.1159/000355404. Epub 2013 Nov 26.

The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.

J Clin Endocrinol Metab. 2011 Nov;96(11):E1896-904. doi: 10.1210/jc.2011-1597. Epub 2011 Sep 7.

Heterozygous nonsense mutation in exon 3 of the growth hormone receptor (GHR) in severe GH insensitivity (Laron syndrome) and the issue of the origin and function of the GHRd3 isoform.

J Clin Endocrinol Metab. 2003 Apr;88(4):1705-10. doi: 10.1210/jc.2002-021667.

Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.

J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):79-88. doi: 10.1515/jpem-2019-0234.

A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).

Growth Horm IGF Res. 2020 Feb;50:61-70. doi: 10.1016/j.ghir.2019.12.005. Epub 2019 Dec 27.

Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.

Clin Endocrinol (Oxf). 2012 May;76(5):706-12. doi: 10.1111/j.1365-2265.2011.04304.x.

本文引用的文献

Pathogenic/likely pathogenic variants in the SHOX, GHR and IGFALS genes among Indian children with idiopathic short stature.

J Pediatr Endocrinol Metab. 2020 Jan 28;33(1):79-88. doi: 10.1515/jpem-2019-0234.

Fifty seven years of follow-up of the Israeli cohort of Laron Syndrome patients-From discovery to treatment.

Growth Horm IGF Res. 2016 Jun;28:53-6. doi: 10.1016/j.ghir.2015.08.004. Epub 2015 Aug 18.

Clinical features and endocrine profile of Laron syndrome in Indian children.

Indian J Endocrinol Metab. 2014 Nov;18(6):863-7. doi: 10.4103/2230-8210.140236.

Laron syndrome.

J Postgrad Med. 2014 Jul-Sep;60(3):322-3. doi: 10.4103/0022-3859.138816.

Genetic evaluation of short stature.

J Clin Endocrinol Metab. 2014 Sep;99(9):3080-92. doi: 10.1210/jc.2014-1506. Epub 2014 Jun 10.

Improvement of diagnostic criteria in growth hormone insensitivity syndrome: solutions and pitfalls. Pharmacia Study Group on Insulin-like Growth Factor I Treatment in Growth Hormone Insensitivity Syndromes.

Acta Paediatr Suppl. 1994 Apr;399:117-24. doi: 10.1111/j.1651-2227.1994.tb13303.x.

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