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

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases

多状态结构基因组学能够对与钙化疾病相关的ABCC6基因变异进行大规模、机制性和情境特异性分类

Wagenknecht, Jessica B; Haque, Neshatul; Jorge, Salomao D; Ratnasinghe, Brian D; Urrutia, Raul; Gahl, William A; Ziegler, Shira G; Zimmermann, Michael T

Hypomorphic RAG2 Deficiency Promotes Selection of Self-Reactive B Cells

RAG2功能减退缺陷促进自身反应性B细胞的选择

Thouvenel, Christopher D; Tipton, Christopher M; Yamazaki, Yasuhiro; Zhang, Ting-Ting; Rylaarsdam, Stacey; Hom, Jennifer R; Snead, Catherine; Zhu, Chengsong; Li, Quan-Zhen; Lee, Yu Nee; Kawai, Tomoki; Haque, Neshatul; Zimmermann, Michael T; Ponnan, Sivasankaran Munusamy; Jackson, Shaun W; James, Rich G; Sanz, Ignacio; Notarangelo, Luigi D; Torgerson, Troy R; Ochs, Hans D; Rawlings, David J; Allenspach, Eric J

Tissue-specific co-expression patterns of BAF complex genes across human endocrine and non-endocrine tissues

BAF复合物基因在人类内分泌和非内分泌组织中的组织特异性共表达模式

Dong, Xiaowei; Haque, Neshatul; Wagenknecht, Jessica B; Zimmermann, Michael T

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases

多状态结构基因组学方法能够对与钙化疾病相关的ABCC6基因变异进行大规模、机制性和情境特异性分类

Wagenknecht, Jessica B; Haque, Neshatul; Jorge, Salomao D; Ratnasinghe, Brian D; Urrutia, Raul; Gahl, William A; Ziegler, Shira G; Zimmermann, Michael T

Tissue-Specific Co-Expression Patterns of BAF Complexes Provide Regulatory Insights Across Human Tissues with Implications for Endocrine and Non-Endocrine Functions

BAF复合物的组织特异性共表达模式为人类组织中的调控提供了见解,并对内分泌和非内分泌功能具有重要意义。

Dong, Xiaowei; Haque, Neshatul; Wagenknecht, Jessica B; Zimmermann, Michael T

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

MARK2 变异通过下调 WNT/β-catenin 信号通路导致自闭症谱系障碍

Gong Maolei, Li Jiayi, Qin Zailong, Machado Bressan Wilke Matheus Vernet, Liu Yijun, Li Qian, Liu Haoran, Liang Chen, Morales-Rosado Joel A, Cohen Ana S A, Hughes Susan S, Sullivan Bonnie R, Waddell Valerie, van den Boogaard Marie-José H, van Jaarsveld Richard H, van Binsbergen Ellen, van Gassen Koen L, Wang Tianyun, Hiatt Susan M, Amaral Michelle D, Kelley Whitley V, Zhao Jianbo, Feng Weixing, Ren Changhong, Yu Yazhen, Boczek Nicole J, Ferber Matthew J, Lahner Carrie, Elliott Sherr, Ruan Yiyan, Mignot Cyril, Keren Boris, Xie Hua, Wang Xiaoyan, Popp Bernt, Zweier Christiane, Piard Juliette, Coubes Christine, Mau-Them Frederic Tran, Safraou Hana, Innes A Micheil, Gauthier Julie, Michaud Jacques L, Koboldt Daniel C, Sylvie Odent, Willems Marjolaine, Tan Wen-Hann, Cogne Benjamin, Rieubland Claudine, Braun Dominique, McLean Scott Douglas, Platzer Konrad, Zacher Pia, Oppermann Henry, Evenepoel Lucie, Blanc Pierre, El Khattabi Laïla, Haque Neshatul, Dsouza Nikita R, Zimmermann Michael T, Urrutia Raul, Klee Eric W, Shen Yiping, Du Hongzhen, Rappaport Leonard, Liu Chang-Mei, Chen Xiaoli

Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants

评估基于蛋白质表面的评分方法在解释基因组变异中的应用

Dsouza, Nikita R; Haque, Neshatul; Tripathi, Swarnendu; Zimmermann, Michael T

Systematic analysis of the relationship between fold-dependent flexibility and artificial intelligence protein structure prediction

系统分析折叠依赖性柔性与人工智能蛋白质结构预测之间的关系

Haque, Neshatul; Wagenknecht, Jessica B; Ratnasinghe, Brian D; Zimmermann, Michael T

Beyond structural bioinformatics for genomics with dynamics characterization of an expanded KRAS mutational landscape

超越基因组学的结构生物信息学,动态表征扩展的 KRAS 突变景观

Brian D Ratnasinghe, Neshatul Haque, Jessica B Wagenknecht, Davin R Jensen, Guadalupe K Valdivia Esparza, Elise N Leverence, Thiago Milech De Assuncao, Angela J Mathison, Gwen Lomberk, Brian C Smith, Brian F Volkman, Raul Urrutia, Michael T Zimmermann

RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation

RAG基因组变异通过特定的基于结构的酶失调机制导致自身免疫性疾病。

Haque, Neshatul; Kawai, Tomoki; Ratnasinghe, Brian D; Wagenknecht, Jessica B; Urrutia, Raul; Notarangelo, Luigi D; Zimmermann, Michael T