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生长障碍相关 IGF 轴成分:系统评价与专利分析报告。

Components of IGF-axis in growth disorders: a systematic review and patent landscape report.

机构信息

Laboratory for Reproductive and Developmental Disorders, Department of Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, 151401, India.

Department of Human Genetics and Molecular Medicine, School of Health Sciences, Central University of Punjab, Bathinda, 151401, India.

出版信息

Endocrine. 2022 Jun;76(3):509-525. doi: 10.1007/s12020-022-03063-2. Epub 2022 May 6.

DOI:10.1007/s12020-022-03063-2
PMID:35523998
Abstract

PURPOSE

In this review, epi/genetic mutations of IGF-axis components associated with growth disorders have been summarized alongwith assessment of relevant diagnostic and therapeutic technology through patent literature.

METHODOLOGY

PROSPERO protocol registration CRD42021279468. For scientific literature search Literature databases (PubMed, EMBASE, ScienceDirect, and Google Scholar) were queried using the appropriate syntax. Various filters were applied based on inclusion and exclusion criteria. Search results were further refined by two authors for finalizing studies to be included in this synthesis. For patent documents search Patent databases (Patentscope and Espacenet) were queried using keywords: IGF or IGFBP. Filters were applied according to International Patent Classification (IPC) and Cooperative Patent Classification (CPC). Search results were reviewed by two authors for inclusion in the patent landscape report.

RESULTS

For scientific literature analysis, out of 545 search results, 196 were selected for review based on the inclusion criteria. For Patent literature search, out of 485 results, 37 were selected for this synthesis.

CONCLUSION

Dysregulation of IGF-axis components leads to various abnormalities and their key role in growth and development suggests epi/mutations or structural defects among IGF-axis genes can be associated with growth disorders and may explain some of the idiopathic short stature cases. Trend of patent filings indicate advent of recombinant technology for therapeutics.

摘要

目的

本综述总结了与生长障碍相关的 IGF 轴成分的表观/遗传突变,并通过专利文献评估了相关诊断和治疗技术。

方法

PROSPERO 方案注册 CRD42021279468。科学文献检索 使用适当的语法在文献数据库(PubMed、EMBASE、ScienceDirect 和 Google Scholar)中查询文献数据库。根据纳入和排除标准应用各种过滤器。两位作者进一步对搜索结果进行了细化,以确定要纳入本综合研究的研究。专利文献检索 使用关键字“IGF 或 IGFBP”在专利数据库(Patentscope 和 Espacenet)中查询。根据国际专利分类(IPC)和合作专利分类(CPC)应用过滤器。两位作者对搜索结果进行了审查,以纳入专利全景报告。

结果

对于科学文献分析,在 545 个搜索结果中,根据纳入标准选择了 196 个进行综述。对于专利文献检索,在 485 个结果中,选择了 37 个进行本综合研究。

结论

IGF 轴成分的失调导致各种异常,其在生长和发育中的关键作用表明 IGF 轴基因中的表观/结构缺陷可能与生长障碍有关,并可能解释一些特发性身材矮小病例。专利申请趋势表明重组技术治疗的出现。

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本文引用的文献

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IGF1 haploinsufficiency in children with short stature: a case series.IGF1 杂合性不足导致身材矮小的儿童:病例系列研究。
Eur J Endocrinol. 2021 Jul 7;185(2):323-332. doi: 10.1530/EJE-20-1463.
2
Microdeletion in the IGF-1 receptor gene of a patient with short stature and obesity: a case report.患者身材矮小伴肥胖,存在 IGF-1 受体基因微缺失:病例报告。
J Pediatr Endocrinol Metab. 2021 Jan 26;34(2):255-259. doi: 10.1515/jpem-2020-0478. Print 2021 Feb 23.
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Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
电子健康记录和基因组靶向搜索确定了三名身材矮小和 IGF-I 水平高的患者的病因。
Horm Res Paediatr. 2019;92(3):186-195. doi: 10.1159/000504884. Epub 2019 Dec 20.
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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.一个成熟 IGF1 肽中高度保守的 Tyr60 上的纯合突变拓宽了 IGF1 缺乏症的谱。
Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563.
5
Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.单亲二体性和治疗前的胰岛素样生长因子-1(IGF-1)水平可能预测普拉德-威利综合征患者接受生长激素(GH)治疗时IGF-1水平升高。
Growth Horm IGF Res. 2019 Oct-Dec;48-49:9-15. doi: 10.1016/j.ghir.2019.08.003. Epub 2019 Aug 28.
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Growth Horm IGF Res. 2019 Oct-Dec;48-49:5-8. doi: 10.1016/j.ghir.2019.07.002. Epub 2019 Aug 5.
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Novel mutation of type-1 insulin-like growth factor receptor (IGF-1R) gene in a severe short stature pedigree identified by targeted next-generation sequencing.通过靶向二代测序在一个严重身材矮小家系中鉴定出1型胰岛素样生长因子受体(IGF-1R)基因的新型突变。
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