一个中国家系中与凝溶胶蛋白基因p.D214N突变相关的凝溶胶蛋白淀粉样变性 - Suppr

Suppr

超能文献

Gelsolin amyloidosis associated with the p.D214N gelsolin gene mutation in a Chinese family.

作者信息

Wang Shuang, Li Dan-Yang, Xu Jin, Song Wen-Jing, Wang Su-Xia

机构信息

Laboratory of Electron Microscopy, Pathological Center, Peking University First Hospital, Beijing, China.

Department of Ophthalmology, Peking University First Hospital, Beijing, China.

出版信息

Kidney Res Clin Pract. 2024 Sep;43(5):693-696. doi: 10.23876/j.krcp.24.130. Epub 2024 Sep 24.

DOI:10.23876/j.krcp.24.130

PMID:39390625

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11467366/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e062/11467366/03a3d8367087/j-krcp-24-130f1.jpg

相似文献

Gelsolin amyloidosis associated with the p.D214N gelsolin gene mutation in a Chinese family.一个中国家系中与凝溶胶蛋白基因p.D214N突变相关的凝溶胶蛋白淀粉样变性

Kidney Res Clin Pract. 2024 Sep;43(5):693-696. doi: 10.23876/j.krcp.24.130. Epub 2024 Sep 24.

Severe elastolysis in hereditary gelsolin (AGel) amyloidosis.遗传性凝胶蛋白（AGel）淀粉样变性中的严重弹性蛋白溶解。

Amyloid. 2020 Jun;27(2):81-88. doi: 10.1080/13506129.2019.1699785. Epub 2019 Dec 9.

A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.一个新的位于外显子 1 的杂合 G 重复（c.100dupG）导致中国一个家族的凝胶原纤维蛋白淀粉样变性。

Brain Behav. 2018 Dec;8(12):e01151. doi: 10.1002/brb3.1151. Epub 2018 Nov 12.

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.芬兰遗传性淀粉样变性是由凝溶胶蛋白基因中的单个核苷酸替换引起的。

FEBS Lett. 1990 Dec 10;276(1-2):75-7. doi: 10.1016/0014-5793(90)80510-p.

Danish type gelsolin related amyloidosis: 654G-T mutation is associated with a disease pathogenetically and clinically similar to that caused by the 654G-A mutation (familial amyloidosis of the Finnish type).丹麦型凝溶胶蛋白相关淀粉样变性：654G-T突变与一种在发病机制和临床上与由654G-A突变（芬兰型家族性淀粉样变性）引起的疾病相似的疾病相关。

J Clin Pathol. 2000 Feb;53(2):95-9. doi: 10.1136/jcp.53.2.95.

Clinical characteristics and SAP scintigraphic findings in 10 patients with AGel amyloidosis.10例AGel淀粉样变性患者的临床特征及SAP闪烁扫描结果

Amyloid. 2014 Dec;21(4):276-81. doi: 10.3109/13506129.2014.973105. Epub 2014 Oct 24.

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel Variant p.Glu580Lys.与新型变体 p.Glu580Lys 相关的凝胶蛋白淀粉样变性的临床和组织病理学特征。

Int J Mol Sci. 2021 Jan 22;22(3):1084. doi: 10.3390/ijms22031084.

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.一名非洲裔男性凝溶胶蛋白淀粉样变性的非典型表现及凝溶胶蛋白基因新突变

Am J Case Rep. 2018 Mar 30;19:374-381. doi: 10.12659/ajcr.907550.

The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture.首例GSN基因发生p.Asp174Asn突变的中国肾凝溶胶蛋白淀粉样变性：肾脏病影像

J Nephrol. 2021 Aug;34(4):1257-1259. doi: 10.1007/s40620-020-00873-3. Epub 2021 Jan 4.

Danish type gelsolin-related amyloidosis in a Brazilian family: case reports.巴西一个家族中的丹麦型凝溶胶蛋白相关淀粉样变性：病例报告。

Arq Bras Oftalmol. 2011 Jul-Aug;74(4):286-8. doi: 10.1590/s0004-27492011000400012.

本文引用的文献

J Nephrol. 2021 Aug;34(4):1257-1259. doi: 10.1007/s40620-020-00873-3. Epub 2021 Jan 4.

Clinical, biopsy, and mass spectrometry findings of renal gelsolin amyloidosis.肾脏明胶酶结合素淀粉样变性的临床、活检和质谱研究结果。

Kidney Int. 2017 Apr;91(4):964-971. doi: 10.1016/j.kint.2016.11.017. Epub 2017 Jan 29.

Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases.由杂合性G654A凝溶胶蛋白突变引起的遗传性肾淀粉样变性：两例报告

Clin Kidney J. 2013 Apr;6(2):189-93. doi: 10.1093/ckj/sft007.

Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.一种新型的凝胶蛋白变体导致一个大家族的肾病综合征和肾淀粉样变性。

Amyloid. 2014 Jun;21(2):110-2. doi: 10.3109/13506129.2014.891502. Epub 2014 Mar 6.

Renal amyloidosis associated with a novel sequence variant of gelsolin.与新型凝胶原序列变异相关的肾淀粉样变性。

Am J Kidney Dis. 2013 Jan;61(1):161-6. doi: 10.1053/j.ajkd.2012.07.016. Epub 2012 Aug 30.

Nephrol Dial Transplant. 2007 Jan;22(1):272-5. doi: 10.1093/ndt/gfl548. Epub 2006 Sep 23.

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.伴有角膜格子状营养不良、进行性颅神经病变、皮肤改变及多种内脏症状的家族性系统性淀粉样变性。一种此前未被认识的遗传性综合征。

Ann Clin Res. 1969 Dec;1(4):314-24.

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.芬兰型家族性淀粉样变性中凝溶胶蛋白Asn187突变的纯合性与严重肾脏疾病相关。

Genomics. 1992 Jul;13(3):902-3. doi: 10.1016/0888-7543(92)90183-s.

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