HERC1相关文献与解析，生知库 | 链接生命科学的每一步

Cui, Yumeng; He, Yingying; Wu, Xiaojie; Dong, Yunzhu; Li, Yanghua; Man, Weiling; Li, Xiang; Chen, Shiyun; Pang, Fang; Li, Ying; Cheng, Hongbo; Wei, Congwen; Ma, Zengchun; Chen, Shuiping; Lin, Yanli; Xu, Junjie; Wang, Youliang

HERC1

发表日期：2025

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First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants

伊朗首例携带HERC1和PMP22基因共遗传变异的巨头畸形、面部畸形和精神运动发育迟缓病例：两种新变异

期刊:Archives of Iranian Medicine

影响因子:1

doi:10.34172/aim.31593

Reshadmanesh, Azadeh; Dehdahsi, Shima; Ahangari, Fatemeh; Kahrizi, Kimia; Kariminejad, Ariana; Mahdavi, Shokouh Sadat; Talebi, Saeed; Najmabadi, Hossein

Transcriptome-wide association study of HIV-1 acquisition identifies HERC1 as a susceptibility gene

全转录组关联研究发现，HERC1是HIV-1感染的易感基因。

期刊:iScience

影响因子:4.1

doi:10.1016/j.isci.2022.104854

Duarte, Rodrigo R R; Pain, Oliver; Furler, Robert L; Nixon, Douglas F; Powell, Timothy R

The Downregulation of Both Giant HERCs, HERC1 and HERC2, Is an Unambiguous Feature of Chronic Myeloid Leukemia, and HERC1 Levels Are Associated with Leukemic Cell Differentiation

两种巨型 HERC（HERC1 和 HERC2）的下调是慢性粒细胞白血病的明确特征，并且 HERC1 水平与白血病细胞分化相关

期刊:Journal of Clinical Medicine

影响因子:3

doi:10.3390/jcm11020324

Muhammad Shahzad Ali, Stefano Magnati, Cristina Panuzzo, Daniela Cilloni, Giuseppe Saglio, Barbara Pergolizzi, Enrico Bracco

The Giant HECT E3 Ubiquitin Ligase HERC1 Is Aberrantly Expressed in Myeloid Related Disorders and It Is a Novel BCR-ABL1 Binding Partner

巨型 HECT E3 泛素连接酶 HERC1 在髓系相关疾病中异常表达，是一种新型 BCR-ABL1 结合伴侣

期刊:Cancers

影响因子:

doi:10.3390/cancers13020341

Muhammad Shahzad Ali, Cristina Panuzzo, Chiara Calabrese, Alessandro Maglione, Rocco Piazza, Daniela Cilloni, Giuseppe Saglio, Barbara Pergolizzi, Enrico Bracco

The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses

HERC1 泛素连接酶调节中枢突触的突触前膜动力学

期刊:Scientific Reports

影响因子:3.8

doi:10.1038/s41598-020-68970-8

Mª Angeles Montes-Fernández #, Eva Mª Pérez-Villegas #, Francesc R Garcia-Gonzalo, Leonardo Pedrazza, Jose Luis Rosa, Guillermo Alvarez de Toledo, José A Armengol

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

HERC1基因中的无义变异与智力障碍、巨脑畸形、胼胝体增厚和小脑萎缩有关。

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/ejhg.2015.140

Nguyen, Lam Son; Schneider, Taiane; Rio, Marlène; Moutton, Sébastien; Siquier-Pernet, Karine; Verny, Florine; Boddaert, Nathalie; Desguerre, Isabelle; Munich, Arnold; Rosa, José Luis; Cormier-Daire, Valérie; Colleaux, Laurence

circHERC1-A telomerase activator

环状HERC1-A端粒酶激活剂

First Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants

伊朗首例携带HERC1和PMP22基因共遗传变异的巨头畸形、面部畸形和精神运动发育迟缓病例：两种新变异

Transcriptome-wide association study of HIV-1 acquisition identifies HERC1 as a susceptibility gene

全转录组关联研究发现，HERC1是HIV-1感染的易感基因。

The Downregulation of Both Giant HERCs, HERC1 and HERC2, Is an Unambiguous Feature of Chronic Myeloid Leukemia, and HERC1 Levels Are Associated with Leukemic Cell Differentiation

两种巨型 HERC（HERC1 和 HERC2）的下调是慢性粒细胞白血病的明确特征，并且 HERC1 水平与白血病细胞分化相关

The Giant HECT E3 Ubiquitin Ligase HERC1 Is Aberrantly Expressed in Myeloid Related Disorders and It Is a Novel BCR-ABL1 Binding Partner

巨型 HECT E3 泛素连接酶 HERC1 在髓系相关疾病中异常表达，是一种新型 BCR-ABL1 结合伴侣

The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses

HERC1 泛素连接酶调节中枢突触的突触前膜动力学

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

HERC1基因中的无义变异与智力障碍、巨脑畸形、胼胝体增厚和小脑萎缩有关。