《E3泛素蛋白连接酶基因TRIP12单倍剂量不足导致伴有或不伴有自闭症谱系障碍、语言发育迟缓及畸形特征的智力障碍》勘误 - Suppr | 超能文献

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Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.《E3泛素蛋白连接酶基因TRIP12单倍剂量不足导致伴有或不伴有自闭症谱系障碍、语言发育迟缓及畸形特征的智力障碍》勘误

Hum Genet. 2017 Aug;136(8):1009-1011. doi: 10.1007/s00439-017-1828-1.

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.E3泛素蛋白连接酶基因TRIP12的单倍剂量不足会导致伴有或不伴有自闭症谱系障碍、语言发育迟缓及畸形特征的智力障碍。

Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1.

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E3 Ubiquitin Ligase TRIP12: Regulation, Structure, and Physiopathological Functions.E3 泛素连接酶 TRIP12：调控、结构和生理病理功能。

Int J Mol Sci. 2020 Nov 12;21(22):8515. doi: 10.3390/ijms21228515.

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Novel Synonymous and Frameshift Variants in the Gene Identified in 2 Chinese Patients With Intellectual Disability.在2例中国智障患者中鉴定出的该基因中的新型同义突变和移码突变。

Neurol Genet. 2022 Oct 20;8(6):e200025. doi: 10.1212/NXG.0000000000200025. eCollection 2022 Dec.

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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.证实染色体微阵列分析可作为发育迟缓、智力障碍、自闭症谱系障碍和发育异常特征的个体的一线临床诊断测试。

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De novo 2q36.3q37.1 deletion encompassing and yields distinct phenotypes.包含及的新发2号染色体36.3至37.1区域缺失产生不同的表型。

Hum Genome Var. 2020 Jun 1;7:19. doi: 10.1038/s41439-020-0107-1. eCollection 2020.

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Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.一名患有轻度智力障碍和颅面畸形的患者，因2p15处一个新出现的230 kb缺失导致XPO1和USP34单倍剂量不足。

Eur J Med Genet. 2014 Sep;57(9):513-9. doi: 10.1016/j.ejmg.2014.05.008. Epub 2014 Jun 7.

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Trip12 is an E3 ubiquitin ligase for USP7/HAUSP involved in the DNA damage response.Trip12是一种参与DNA损伤反应的针对USP7/HAUSP的E3泛素连接酶。

FEBS Lett. 2016 Dec;590(23):4213-4222. doi: 10.1002/1873-3468.12471. Epub 2016 Nov 11.

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Identification of HECT E3 ubiquitin ligase family genes involved in stem cell regulation and regeneration in planarians.涡虫中参与干细胞调控和再生的HECT E3泛素连接酶家族基因的鉴定

Dev Biol. 2015 Aug 15;404(2):21-34. doi: 10.1016/j.ydbio.2015.04.021. Epub 2015 May 6.

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372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.18q12.3区域372 kb的微缺失导致SETBP1单倍体不足，与轻度智力障碍和表达性言语障碍相关。

Eur J Med Genet. 2012 Mar;55(3):216-21. doi: 10.1016/j.ejmg.2012.01.005. Epub 2012 Jan 25.

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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.