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

Assessing the effect of bovine MSTN variants on pre-mRNA splicing

评估牛MSTN变体对前体mRNA剪接的影响

Gaiani, Nicolas; Rocha, Dominique; Boulling, Arnaud

Functional impact of splicing variants in the elaboration of complex traits in cattle

剪接变异在牛复杂性状形成中的功能影响

Charles, Mathieu; Gaiani, Nicolas; Sanchez, Marie-Pierre; Boussaha, Mekki; Hozé, Chris; Boichard, Didier; Rocha, Dominique; Boulling, Arnaud

A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene.

GNPAT 基因中深内含子剪接变异引起的根部软骨发育不良点状症的牛模型

Boulling Arnaud, Corbeau Julien, Grohs Cécile, Barbat Anne, Mortier Jérémy, Taussat Sébastien, Plassard Vincent, Leclerc Hélène, Fritz Sébastien, Leymarie Cyril, Bourgeois-Brunel Lorraine, Ducos Alain, Guatteo Raphaël, Boichard Didier, Boussaha Mekki, Capitan Aurélien

Nuclear sequences of mitochondrial origin in domestic yak

家牦牛线粒体来源的核序列

Poncet, Mélissa; Féménia, Maureen; Pierre, Clémence; Charles, Mathieu; Capitan, Aurélien; Boulling, Arnaud; Rocha, Dominique

Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

通过全长基因检测分析DGAT1 p.M435L和p.K232A变异对pre-mRNA剪接的影响

Gaiani, Nicolas; Bourgeois-Brunel, Lorraine; Rocha, Dominique; Boulling, Arnaud

Integrin alpha 6 homozygous splice-site mutation causes a new form of junctional epidermolysis bullosa in Charolais cattle

整合素α6纯合剪接位点突变导致夏洛莱牛新型交界性大疱性表皮松解症

Mekki Boussaha, Arnaud Boulling, Valérie Wolgust, Lorraine Bourgeois-Brunel, Pauline Michot, Cécile Grohs, Nicolas Gaiani, Pierre-Yves Grivaud, Hélène Leclerc, Coralie Danchin-Burge, Marthe Vilotte, Julie Rivière, Didier Boichard, Jean-Marie Gourreau, Aurélien Capitan

Toward a clinical diagnostic pipeline for SPINK1 intronic variants

构建SPINK1内含子变异的临床诊断流程

Tang, Xin-Ying; Lin, Jin-Huan; Zou, Wen-Bin; Masson, Emmanuelle; Boulling, Arnaud; Deng, Shun-Jiang; Cooper, David N; Liao, Zhuan; Férec, Claude; Li, Zhao-Shen; Chen, Jian-Min

In silico prioritization and further functional characterization of SPINK1 intronic variants

SPINK1内含子变体的计算机模拟优先级排序和进一步功能表征

Zou, Wen-Bin; Wu, Hao; Boulling, Arnaud; Cooper, David N; Li, Zhao-Shen; Liao, Zhuan; Chen, Jian-Min; Férec, Claude

No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations

亚洲人群中CEL-HYB杂合等位基因与慢性胰腺炎无关联

Zou, Wen-Bin; Boulling, Arnaud; Masamune, Atsushi; Issarapu, Prachand; Masson, Emmanuelle; Wu, Hao; Sun, Xiao-Tian; Hu, Liang-Hao; Zhou, Dai-Zhan; He, Lin; Fichou, Yann; Nakano, Eriko; Hamada, Shin; Kakuta, Yoichi; Kume, Kiyoshi; Isayama, Hiroyuki; Paliwal, Sumit; Mani, K Radha; Bhaskar, Seema; Cooper, David N; Férec, Claude; Shimosegawa, Tooru; Chandak, Giriraj R; Chen, Jian-Min; Li, Zhao-Shen; Liao, Zhuan

Assessing the pathological relevance of SPINK1 promoter variants

评估SPINK1启动子变异的病理相关性

Boulling, Arnaud; Witt, Heiko; Chandak, Giriraj Ratan; Masson, Emmanuelle; Paliwal, Sumit; Bhaskar, Seema; Reddy, D Nageshwar; Cooper, David N; Chen, Jian-Min; Férec, Claude