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

Whole genome sequencing of CRISPR/Cas9-engineered NF-κB reporter mice for validation and variant discovery

对经 CRISPR/Cas9 编辑的 NF-κB 报告基因小鼠进行全基因组测序，以验证其功能并发现变异。

期刊:Scientific Data
影响因子:6.9
doi:10.1038/s41597-024-04064-8
Mahesh, Guruswamy; Martin, Erik W; Aqdas, Mohammad; Oh, Kyu-Seon; Sung, Myong-Hee
NF-κB
发表日期：2024
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Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients

XPA基因的不同种系变异与着色性干皮病患者的严重、中度或轻度神经退行性变相关。

期刊:PLoS Genetics
影响因子:3.7
doi:10.1371/journal.pgen.1011265
Sagun, Jeffrey P; Khan, Sikandar G; Imoto, Kyoko; Tamura, Deborah; Oh, Kyu-Seon; DiGiovanna, John J; Kraemer, Kenneth H
神经科学
发表日期：2024
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XL-DNase-seq: improved footprinting of dynamic transcription factors

XL-DNase-seq：改进的动态转录因子足迹分析

期刊:Epigenetics & Chromatin
影响因子:3.5
doi:10.1186/s13072-019-0277-6
Oh, Kyu-Seon; Ha, Jisu; Baek, Songjoon; Sung, Myong-Hee
DNase
发表日期：2019
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Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage

着色性干皮病眼部表现：长期随访凸显DNA修复在抵御日光损伤中的作用

期刊:Ophthalmology
影响因子:9.5
doi:10.1016/j.ophtha.2012.12.044
Brooks, Brian P; Thompson, Amy H; Bishop, Rachel J; Clayton, Janine A; Chan, Chi-Chao; Tsilou, Ekaterini T; Zein, Wadih M; Tamura, Deborah; Khan, Sikandar G; Ueda, Takahiro; Boyle, Jennifer; Oh, Kyu-Seon; Imoto, Kyoko; Inui, Hiroki; Moriwaki, Shin-Ichi; Emmert, Steffen; Iliff, Nicholas T; Bradford, Porcia; Digiovanna, John J; Kraemer, Kenneth H
发表日期：2013
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Ancient origin of a Japanese xeroderma pigmentosum founder mutation

日本着色性干皮病创始突变的古老起源

期刊:Journal of Dermatological Science
影响因子:4
doi:10.1016/j.jdermsci.2012.10.008
Imoto, Kyoko; Nadem, Carine; Moriwaki, Shin-Ichi; Nishigori, Chikako; Oh, Kyu-Seon; Khan, Sikandar G; Goldstein, Alisa M; Kraemer, Kenneth H
发表日期：2013
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Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

XPD(ERCC2)基因突变对患有毛发硫营养不良症或着色性干皮病患者母亲妊娠及产前发育的影响

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2012.90
Tamura, Deborah; Khan, Sikandar G; Merideth, Melissa; DiGiovanna, John J; Tucker, Margaret A; Goldstein, Alisa M; Oh, Kyu-Seon; Ueda, Takahiro; Boyle, Jennifer; Sarihan, Mansi; Kraemer, Kenneth H
发育与干细胞
发表日期：2012
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High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies

DNA修复和转录障碍性毛硫营养不良症的高危妊娠和新生儿并发症：27例受累妊娠的报告

期刊:Prenatal Diagnosis
影响因子:2.7
doi:10.1002/pd.2829
Tamura, Deborah; Merideth, Melissa; DiGiovanna, John J; Zhou, Xiaolong; Tucker, Margaret A; Goldstein, Alisa M; Brooks, Brian P; Khan, Sikandar G; Oh, Kyu-Seon; Ueda, Takahiro; Boyle, Jennifer; Moslehi, Roxana; Kraemer, Kenneth H
发表日期：2011
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UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells.

UV 诱导的组蛋白 H2AX 磷酸化和 DNA 损伤相关蛋白在核苷酸切除修复缺陷的 XP-B 细胞中积累并持续存在

期刊:DNA Repair
影响因子:2.7
doi:10.1016/j.dnarep.2010.09.004
Oh Kyu-Seon, Bustin Michael, Mazur Sharlyn J, Appella Ettore, Kraemer Kenneth H
细胞生物学
H2AX
磷酸化
发表日期：2011
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XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients

XPC分支点序列突变会破坏U2 snRNP结合，导致着色性干皮病患者出现异常的前体mRNA剪接。

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.21166
Khan, Sikandar G; Yamanegi, Koji; Zheng, Zhi-Ming; Boyle, Jennifer; Imoto, Kyoko; Oh, Kyu-Seon; Baker, Carl C; Gozukara, Engin; Metin, Ahmet; Kraemer, Kenneth H
XPC
发表日期：2010
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Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)

严格的防晒措施使患有着色性干皮病和 XPD (ERCC2) 基因中新型 c.2009delG 突变的患者皮肤变化最小。

期刊:Experimental Dermatology
影响因子:3.1
doi:10.1111/j.1600-0625.2008.00763.x
Emmert, Steffen; Ueda, Takahiro; Zumsteg, Urs; Weber, Peter; Khan, Sikandar G; Oh, Kyu-Seon; Boyle, Jennifer; Laspe, Petra; Zachmann, Karolin; Boeckmann, Lars; Kuschal, Christiane; Bircher, Andreas; Kraemer, Kenneth H
发表日期：2009
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