DKC1相关文献与解析，生知库 | 链接生命科学的每一步

Sun Chenxi, Cheng Lin, Li Ai, Han Yanxiao, Wang Yongjing, Xiao Juan, Guo Yanan, Zhang Wenting, Sun Likun, Xu Dawei, Kong Dexiao, Jiang Yang, Zheng Chengyun

DKC1

多发性骨髓瘤

骨髓瘤

发表日期：2026

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Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis

携带 DKC1 基因突变的成年男性患者会出现早发性肺纤维化，预后不良。

期刊:Erj Open Research

影响因子:4

doi:10.1183/23120541.00417-2025

Evrard, Ophélie; Philippot, Quentin; Kannengiesser, Caroline; Debray, Marie Pierre; Guyard, Alice; Fattori, Antonin; Schuller, Armelle; Nunes, Hilario; Montani, David; Bours, Vincent; Cottin, Vincent; Traclet, Julie; Benattia, Amira; Berthoux, Emilie; Daniel, Adrien; Yan-Min, Xu; Lainey, Elodie; Saussereau, Julien; Chelbi Viallon, Malika; Oudin, Claire; Morel, Héléne; Crestani, Bruno; Borie, Raphaël; Ba, Ibrahima

DKC1

发表日期：2026

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A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report

一例罕见的伴有DKC1基因突变的先天性角化不良症，首发表现为血小板减少症：病例报告

期刊:Medicine

影响因子:1.4

doi:10.1097/MD.0000000000046956

Wen, Ruifan; Tian, Jidong

DKC1-mediated pseudouridylation of rRNA targets hnRNP A1 to sustain IRES-dependent translation and ATF4-driven metabolic adaptation

DKC1介导的rRNA假尿苷化作用靶向hnRNP A1，以维持IRES依赖性翻译和ATF4驱动的代谢适应

期刊:Science Advances

影响因子:11.7

doi:10.1126/sciadv.adv9401

Anamika Gupta,Mohit Bansal,Jane Ding,Suman Karki,Madhuparna Pandit,Sunil Sudarshan,Han-Fei Ding

Targeting DKC1/NF-κB axis suppresses tumorigenesis and enhances 5-FU sensitivity in gastric cancer

靶向DKC1/NF-κB轴可抑制胃癌的肿瘤发生并增强其对5-氟尿嘧啶的敏感性。

期刊:Cancer Cell International

影响因子:6

doi:10.1186/s12935-025-03926-4

Wang, Tengkai; Zhang, Hui; Feng, Yaoyao; Yang, Yinrong

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes

先天性角化不良合并肺纤维化和骨髓增生异常综合征，伴有DKC1基因种系突变和白细胞U2AF1基因体细胞突变

期刊:Internal Medicine

影响因子:1.1

doi:10.2169/internalmedicine.5153-24

Watanabe, Hiroko; Takahashi, Yuta; Namiki, Tomohiro; Nakagawa, Ryusei; Inui, Toshihide; Ishikawa, Hiroaki; Wakamatsu, Manabu; Muramatsu, Hideki; Sakamoto, Tohru

miRNA326-5p Targets DKC1 Gene to Regulate Apoptosis-Related Proteins and Intervene in the Development of Neuroblastoma

miRNA326-5p靶向DKC1基因以调节凋亡相关蛋白并干预神经母细胞瘤的发生发展。

期刊:Analytical Cellular Pathology

影响因子:2.7

doi:10.1155/2023/6761894

Wang, Xiao-Hui; Zhang, Shu-Feng; Wu, Hai-Ying; Gao, Jian; Wang, Lin; Wang, Xu-Hui; Gao, Tian-Hui

Identification and mapping of post-transcriptional modifications on the HIV-1 antisense transcript Ast in human cells

鉴定和定位人细胞中 HIV-1 反义转录本 Ast 的转录后修饰

期刊:RNA

影响因子:4.2

doi:10.1261/rna.079043.121

Mariana Estevez #,Rui Li #,Biplab Paul,Kaveh Daneshvar,Alan C Mullen,Fabio Romerio,Balasubrahmanyam Addepalli

UTP14A, DKC1, DDX10, PinX1, and ESF1 Modulate Cardiac Angiogenesis Leading to Obesity-Induced Cardiac Injury

UTP14A、DKC1、DDX10、PinX1 和 ESF1 调节心脏血管生成，导致肥胖引起的心脏损伤

期刊:Journal of Diabetes Research

影响因子:3.4

doi:10.1155/2022/2923291

Pan, Xiaoyu; Chen, Shuchun; Chen, Xing; Ren, Qingjuan; Yue, Lin; Niu, Shu; Li, Zelin; Zhu, Ruiyi; Chen, Xiaoyi; Jia, Zhuoya; Zhen, Ruoxi; Ban, Jiangli

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family

中国某家族因DKC1基因中一种新的内含子突变导致内含子滞留，进而引发反复死产和早期死亡。

期刊:

影响因子:1.5

doi:10.1002/mgg3.1934.

Qiufang Guo,Ping Zhang,Wenjing Ying,Yaqiong Wang,Jitao Zhu,Gang Li,Huijun Wang,Xiaochuan Wang,Caixia Lei,Wenhao Zhou,Jinqiao Sun,Bingbing Wu

DKC1

发表日期：2022

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DKC1: a robust prognostic factor and potential therapeutic target in multiple myeloma.

DKC1：多发性骨髓瘤的可靠预后因素和潜在治疗靶点。

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis

携带 DKC1 基因突变的成年男性患者会出现早发性肺纤维化，预后不良。

A rare case of dyskeratosis congenita with DKC1 mutation presenting initially as thrombocytopenia: Case report

一例罕见的伴有DKC1基因突变的先天性角化不良症，首发表现为血小板减少症：病例报告

DKC1-mediated pseudouridylation of rRNA targets hnRNP A1 to sustain IRES-dependent translation and ATF4-driven metabolic adaptation

DKC1介导的rRNA假尿苷化作用靶向hnRNP A1，以维持IRES依赖性翻译和ATF4驱动的代谢适应

Targeting DKC1/NF-κB axis suppresses tumorigenesis and enhances 5-FU sensitivity in gastric cancer

靶向DKC1/NF-κB轴可抑制胃癌的肿瘤发生并增强其对5-氟尿嘧啶的敏感性。

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes

先天性角化不良合并肺纤维化和骨髓增生异常综合征，伴有DKC1基因种系突变和白细胞U2AF1基因体细胞突变

miRNA326-5p Targets DKC1 Gene to Regulate Apoptosis-Related Proteins and Intervene in the Development of Neuroblastoma

miRNA326-5p靶向DKC1基因以调节凋亡相关蛋白并干预神经母细胞瘤的发生发展。

Identification and mapping of post-transcriptional modifications on the HIV-1 antisense transcript Ast in human cells

鉴定和定位人细胞中 HIV-1 反义转录本 Ast 的转录后修饰

UTP14A, DKC1, DDX10, PinX1, and ESF1 Modulate Cardiac Angiogenesis Leading to Obesity-Induced Cardiac Injury

UTP14A、DKC1、DDX10、PinX1 和 ESF1 调节心脏血管生成，导致肥胖引起的心脏损伤

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family

中国某家族因DKC1基因中一种新的内含子突变导致内含子滞留，进而引发反复死产和早期死亡。