日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

DCAF17 Mutation in Woodhouse-Sakati Syndrome: A Case Report on a Novel Homozygous Variant

伍德豪斯-萨卡蒂综合征中的DCAF17突变：一例新型纯合变异病例报告

期刊:Case Reports in Pediatrics
影响因子:0.5
doi:10.1155/crpe/9913412
Khalili Dehkordi, Asal; Vakili, Rahim
AF17
DCAF1
发表日期：2025
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Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters

伍德豪斯-萨卡蒂综合征：两名成年姐妹携带DCAF17基因的新变异

期刊:
影响因子:
doi:10.1210/jcemcr/luae130
Amosova, Maria; Poluboyarinova, Irina; Fadeev, Valentin; Asanov, Aliy
AF17
DCAF1
发表日期：2024
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Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

更正：病例报告：一例患有伍德豪斯-萨卡蒂综合征合并糖尿病的中国家族，携带DCAF17基因的新型双等位基因缺失突变

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2022.856002
Zhou, Min; Shi, Ningjie; Zheng, Juan; Chen, Yang; Wang, Siqi; Xiao, Kangli; Cui, Zhenhai; Qiu, Kangli; Zhu, Feng; Li, Huiqing
糖尿病
DCAF1
AF17
代谢
发表日期：2022
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Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family

在一个近亲结婚的大家族中，DCAF17基因中一种新的剪接位点突变导致了伍德豪斯-萨卡蒂综合征。

期刊:Journal of Clinical Laboratory Analysis
影响因子:2.9
doi:10.1002/jcla.24127
Fozia, Fozia; Shah, Khadim; Nazli, Rubina; Khan, Sher Alam; Ahmad, Ijaz; Mohammad, Noor; Khan, Saadullah; Alotaibi, Amal
AF17
DCAF1
发表日期：2022
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Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

病例报告：一例患有伍德豪斯-萨卡蒂综合征合并糖尿病的中国家族，其DCAF17基因存在一种新的双等位基因缺失突变

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2021.770871
Zhou, Min; Shi, Ningjie; Zheng, Juan; Chen, Yang; Wang, Siqi; Xiao, Kangli; Cui, Zhenhai; Qiu, Kangli; Zhu, Feng; Li, Huiqing
糖尿病
DCAF1
AF17
代谢
发表日期：2021
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Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

病例报告：中国近亲婚配家族中导致伍德豪斯-萨卡蒂综合征的DCAF17基因缺失变异

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2021.741323
Chen, Guangmin; Zhou, Ling; Chen, Qimou; Wang, Juan; Jiang, Peng; Shen, Rufei; Long, Min; Zhou, Houdi
AF17
DCAF1
发表日期：2021
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Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model

美国和土耳其家族中DCAF17基因的新型失活突变导致小鼠模型出现雄性不育和雌性生育力低下。

期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.13183
Gurbuz, F; Desai, S; Diao, F; Turkkahraman, D; Wranitz, F; Wood-Trageser, M; Shin, Y-H; Kotan, L D; Jiang, H; Witchel, S; Gurtunca, N; Yatsenko, S; Mysliwec, D; Topaloglu, K; Rajkovic, A
AF17
DCAF1
发表日期：2018
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Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

Woodhouse-Sakati综合征中c.436delC DCAF17基因突变的表型变异

期刊:American Journal of Case Reports
影响因子:0.7
doi:10.12659/ajcr.907395
Almeqdadi, Mohammad; Kemppainen, Jennifer L; Pichurin, Pavel N; Gavrilova, Ralitza H
AF17
DCAF1
发表日期：2018
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RNAi screens in mice identify physiological regulators of oncogenic growth

小鼠RNAi筛选鉴定出致癌生长的生理调节剂

期刊:Nature
影响因子:50.5
doi:10.1038/nature12464
Slobodan Beronja, Peter Janki, Evan Heller, Wen-Hui Lien, Brice E Keyes, Naoki Oshimori, Elaine Fuchs
肿瘤
AF17
发表日期：2013
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Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57

通过蛋白质-蛋白质相互作用和蛋白酶体降解来调节SWI/SNF亚基水平：BAF155和BAF170限制BAF57的表达

期刊:Molecular and Cellular Biology
影响因子:2.7
doi:10.1128/MCB.25.20.9016-9027.2005
Chen, Jianguang; Archer, Trevor K
BAF
AF17
发表日期：2005
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