由转甲状腺素蛋白变体Gly83Arg导致的家族性玻璃体淀粉样变性。 - Suppr

Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg.

作者信息

Xie Bing, Cai Shan-Jun, Jiang Mo, Li Hong, Su Gang

机构信息

Department of Ophthalmology, Guizhou Eye Hospital, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou, China.

出版信息

Acta Ophthalmol. 2017 Sep;95(6):e520-e521. doi: 10.1111/aos.13425. Epub 2017 Mar 7.

DOI:10.1111/aos.13425

PMID:28266151

Abstract

摘要

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Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg.由转甲状腺素蛋白变体Gly83Arg导致的家族性玻璃体淀粉样变性。

Acta Ophthalmol. 2017 Sep;95(6):e520-e521. doi: 10.1111/aos.13425. Epub 2017 Mar 7.

A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only.仅在中国家系中表现出玻璃体淀粉样变性的新型错义突变（Gly83Arg）的小鼠模型。

Exp Eye Res. 2018 Apr;169:13-19. doi: 10.1016/j.exer.2018.01.017. Epub 2018 Feb 3.

Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.一家系中国人遗传性淀粉样多神经病眼表表现，系 TTR Gly83Arg 突变所致。

Eye (Lond). 2014 Jan;28(1):26-33. doi: 10.1038/eye.2013.217. Epub 2013 Oct 11.

A new Arg54Gly transthyretin gene mutation associated with vitreous amyloidosis in Chinese.在中国发现一种与玻璃体淀粉样变性相关的新的转甲状腺素蛋白基因Arg54Gly突变。

Eye Sci. 2011 Dec;26(4):230-8. doi: 10.3969/j.issn.1000-4432.2011.04.010.

Transthyretin-related hereditary amyloidosis in a Chinese family with TTR Y114C mutation.载脂蛋白相关遗传性淀粉样变性病一家系 TTR Y114C 突变

Neurodegener Dis. 2011;8(4):187-93. doi: 10.1159/000321679. Epub 2010 Dec 3.

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome.一种伴有玻璃体淀粉样变性和腕管综合征的新型转甲状腺素蛋白赖氨酸70谷氨酸（p.Lys90Glu）突变。

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Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His.一个携带新的转甲状腺素蛋白变体Tyr69His的大家族中的眼软脑膜淀粉样变性。

Neurology. 2003 May 27;60(10):1625-30. doi: 10.1212/01.wnl.0000065901.18353.ab.

Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.心力衰竭和心脏受累作为Val30Met突变导致的家族性转甲状腺素蛋白淀粉样变性的孤立表现，无多发性神经病的临床症状。

Circ Heart Fail. 2009 Sep;2(5):512-5. doi: 10.1161/CIRCHEARTFAILURE.109.853697.

Early onset vitreous amyloidosis in familial amyloidotic polyneuropathy with a transthyretin Glu54Gly mutation is associated with elevated vitreous VEGF.伴有转甲状腺素蛋白Glu54Gly突变的家族性淀粉样多神经病中的早发性玻璃体淀粉样变性与玻璃体血管内皮生长因子升高有关。

Br J Ophthalmol. 2007 Dec;91(12):1607-9. doi: 10.1136/bjo.2007.119495. Epub 2007 May 23.

Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis.从一名被诊断为家族性转甲状腺素蛋白淀粉样变性病的患者中鉴定出一种新型转甲状腺素蛋白Phe33Cys变体的S-磺化和S-硫醇化。

Protein Sci. 2003 Aug;12(8):1775-85. doi: 10.1110/ps.0349703.

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Effect of G83R Mutation on Transthyretin Protein Structural Stability.G83R突变对转甲状腺素蛋白结构稳定性的影响。

ACS Omega. 2025 Aug 13;10(33):37674-37686. doi: 10.1021/acsomega.5c04236. eCollection 2025 Aug 26.

Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.转甲状腺素蛋白的分泌：依赖内质网的分子机制

Front Physiol. 2025 Jul 1;16:1623185. doi: 10.3389/fphys.2025.1623185. eCollection 2025.

Long-term follow-up of retinal amyloid angiopathy in a large Chinese family with hereditary amyloid transthyretin.一个患有遗传性转甲状腺素蛋白淀粉样变性的中国大家庭中视网膜淀粉样血管病的长期随访

BMC Ophthalmol. 2025 Apr 28;25(1):251. doi: 10.1186/s12886-025-04059-y.

Hereditary vitreoretinal amyloidosis with transthyretin Gly83Arg variant, a long-term study.伴有转甲状腺素蛋白Gly83Arg变异体的遗传性玻璃体视网膜淀粉样变性：一项长期研究

Eye (Lond). 2025 Feb;39(2):345-353. doi: 10.1038/s41433-024-03445-y. Epub 2024 Oct 31.

The Gly103Arg variant in hereditary transthyretin amyloidosis.遗传性转甲状腺素蛋白淀粉样变性中的Gly103Arg变体

Front Neurol. 2024 Sep 9;15:1471131. doi: 10.3389/fneur.2024.1471131. eCollection 2024.

Clinical features of retinal amyloid angiopathy with transthyretin Gly83Arg variant.伴有转甲状腺素蛋白Gly83Arg变异的视网膜淀粉样血管病的临床特征。

Int J Ophthalmol. 2023 Jan 18;16(1):128-134. doi: 10.18240/ijo.2023.01.19. eCollection 2023.

Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage.病例报告：遗传性转甲状腺素蛋白（ATTRv）淀粉样变性：一个汉族家庭中转甲状腺素蛋白基因的p.G103R突变与玻璃体积血相关。

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Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.中国遗传性转甲状腺素蛋白淀粉样变性患者的临床表型和遗传特征。

Orphanet J Rare Dis. 2022 Sep 2;17(1):337. doi: 10.1186/s13023-022-02481-9.

Ophthalmological manifestations of hereditary transthyretin amyloidosis.遗传性转甲状腺素蛋白淀粉样变性的眼科表现。

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Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis.甘氨酸83位点精氨酸突变：超越家族性玻璃体淀粉样变性

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Familial vitreous amyloidosis resulting from transthyretin variant Gly83Arg.

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