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Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

葡萄膜黑色素瘤 5p15.33 风险基因座的功能表征表明 rs452384 为功能性变异，而 NKX2.4 为等位基因特异性相互作用因子

doi:10.1016/j.ajhg.2022.11.004

Anne-Céline Derrien, Alexandre Houy, Olivier Ganier, Florent Dingli, Massih Ningarhari, Lenha Mobuchon, María Isabel Espejo Díaz, Damarys Loew, Nathalie Cassoux, Olivier Cussenot, Géraldine Cancel-Tassin, Raphael Margueron, Josselin Noirel, Jessica Zucman-Rossi, Manuel Rodrigues, Marc-Henri Stern

Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas

高风险3号染色体单体型和低风险3号染色体二体型葡萄膜黑色素瘤的不同色素沉着风险位点

期刊:Jnci-Journal of the National Cancer Institute

影响因子:7.2

doi:10.1093/jnci/djab167

Mobuchon, Lenha; Derrien, Anne-Céline; Houy, Alexandre; Verrier, Thibault; Pierron, Gaëlle; Cassoux, Nathalie; Milder, Maud; Deleuze, Jean-François; Boland, Anne; Scelo, Ghislaine; Cancel-Tassin, Géraldine; Cussenot, Olivier; Rodrigues, Manuel; Noirel, Josselin; Machiela, Mitchell J; Stern, Marc-Henri

黑色素瘤

发表日期：2022

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Quantification of APOBEC3 Mutation Rates Affecting the VP1 Gene of BK Polyomavirus In Vivo

体内BK多瘤病毒VP1基因APOBEC3突变率的定量分析

期刊:Viruses-Basel

影响因子:3.5

doi:10.3390/v14092077

McIlroy, Dorian; Peltier, Cécile; Nguyen, My-Linh; Manceau, Louise; Mobuchon, Lenha; Le Baut, Nicolas; Nguyen, Ngoc-Khanh; Tran, Minh-Chau; Nguyen, The-Cuong; Bressollette-Bodin, Céline

Germline MBD4 Mutations and Predisposition to Uveal Melanoma

生殖系MBD4突变与葡萄膜黑色素瘤的易感性

期刊:Jnci-Journal of the National Cancer Institute

影响因子:7.2

doi:10.1093/jnci/djaa047

Derrien, Anne-Céline; Rodrigues, Manuel; Eeckhoutte, Alexandre; Dayot, Stéphane; Houy, Alexandre; Mobuchon, Lenha; Gardrat, Sophie; Lequin, Delphine; Ballet, Stelly; Pierron, Gaëlle; Alsafadi, Samar; Mariani, Odette; El-Marjou, Ahmed; Matet, Alexandre; Colas, Chrystelle; Cassoux, Nathalie; Stern, Marc-Henri

Cytotoxicity and the Effect of Temperature on Physical Properties and Chemical Composition of a New Calcium Silicate-based Root Canal Sealer

新型硅酸钙基根管封闭剂的细胞毒性及温度对物理性质和化学成分的影响

期刊:Journal of Endodontics

影响因子:3.5

doi:10.1016/j.joen.2019.12.009

Binwen Chen, Markus Haapasalo, Christophe Mobuchon, Xianyu Li, Jingzhi Ma, Ya Shen

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect

三例新发共济失调毛细血管扩张症样疾病：ATM 通路无损伤，但 S 期检查点缺陷

期刊:Human Mutation

影响因子:3.3

doi:10.1002/humu.23773

Alice Fiévet, Dorine Bellanger, Stéphanie Valence, Lenha Mobuchon, Alexandra Afenjar, Fabienne Giuliano, Catherine Dubois d'Enghien, Béatrice Parfait, Jean-Michel Pedespan, Nathalie Auger, Guillaume Rieunier, Agnès Collet, Lydie Burglen, Dominique Stoppa-Lyonnet, Marc-Henri Stern

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

葡萄膜黑色素瘤对PD-1抑制剂的异常反应揭示了高突变肿瘤中存在种系MBD4突变

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-018-04322-5

Rodrigues, Manuel; Mobuchon, Lenha; Houy, Alexandre; Fiévet, Alice; Gardrat, Sophie; Barnhill, Raymond L; Popova, Tatiana; Servois, Vincent; Rampanou, Aurore; Mouton, Aurore; Dayot, Stéphane; Raynal, Virginie; Galut, Michèle; Putterman, Marc; Tick, Sarah; Cassoux, Nathalie; Roman-Roman, Sergio; Bidard, François-Clément; Lantz, Olivier; Mariani, Pascale; Piperno-Neumann, Sophie; Stern, Marc-Henri

Physical properties and hydration behavior of a fast-setting bioceramic endodontic material

快速固化生物陶瓷根管材料的物理性质和水合行为

期刊:BMC Oral Health

影响因子:3.1

doi:10.1186/s12903-016-0184-1

Guo, Ya-Juan; Du, Tian-Feng; Li, Hong-Bo; Shen, Ya; Mobuchon, Christophe; Hieawy, Ahmed; Wang, Zhe-Jun; Yang, Yan; Ma, Jingzhi; Haapasalo, Markus

发表日期：2016

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Food Deprivation Affects the miRNome in the Lactating Goat Mammary Gland

食物匮乏影响哺乳山羊乳腺中的微小RNA组

期刊:PLoS One

影响因子:2.9

doi:10.1371/journal.pone.0140111

Lenha Mobuchon, Sylvain Marthey, Sandrine Le Guillou, Denis Laloë, Fabienne Le Provost, Christine Leroux

Draft Genome Sequence of the Fluconazole-Resistant Yarrowia lipolytica Clinical Isolate CBS 18115

氟康唑耐药性解脂耶氏酵母临床分离株 CBS 18115 的基因组草图序列

Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor

葡萄膜黑色素瘤 5p15.33 风险基因座的功能表征表明 rs452384 为功能性变异，而 NKX2.4 为等位基因特异性相互作用因子

Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas

高风险3号染色体单体型和低风险3号染色体二体型葡萄膜黑色素瘤的不同色素沉着风险位点

Quantification of APOBEC3 Mutation Rates Affecting the VP1 Gene of BK Polyomavirus In Vivo

体内BK多瘤病毒VP1基因APOBEC3突变率的定量分析

Germline MBD4 Mutations and Predisposition to Uveal Melanoma

生殖系MBD4突变与葡萄膜黑色素瘤的易感性

Cytotoxicity and the Effect of Temperature on Physical Properties and Chemical Composition of a New Calcium Silicate-based Root Canal Sealer

新型硅酸钙基根管封闭剂的细胞毒性及温度对物理性质和化学成分的影响

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect

三例新发共济失调毛细血管扩张症样疾病：ATM 通路无损伤，但 S 期检查点缺陷

Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors

葡萄膜黑色素瘤对PD-1抑制剂的异常反应揭示了高突变肿瘤中存在种系MBD4突变

Physical properties and hydration behavior of a fast-setting bioceramic endodontic material

快速固化生物陶瓷根管材料的物理性质和水合行为

Food Deprivation Affects the miRNome in the Lactating Goat Mammary Gland

食物匮乏影响哺乳山羊乳腺中的微小RNA组