Chen Jian-Min相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice

TRPV6相关性胰腺炎：自然病程及胰腺特异性缺失对小鼠胰腺炎的影响

期刊:Journal of Gastroenterology

影响因子:5.5

doi:10.1007/s00535-025-02323-y

Masamune, Atsushi; Masson, Emmanuelle; Zou, Wen-Bin; Rygiel, Agnieszka Magdalena; Chowdhury, Sudipta Dhar; Kikuta, Kazuhiro; Hayashi, Hidehiro; Sasaki, Akira; Nakasuji, Hitomi; Matsumoto, Ryotaro; Takikawa, Tetsuya; Xu, Yan; Jie, Ren; Sekino, Yasumasa; Abe, Toshiaki; Hatta, Waku; Niihori, Tetsuya; Aoki, Yoko; Sakaguchi, Reiko; Mori, Yasuo; Rebours, Vinciane; Buscail, Louis; Wang, Yuan-Chen; Kurien, Reuben Thomas; Visweswariah, Sandhya S; Rosendahl, Jonas; Ferec, Claude; Oracz, Grzegorz; Witt, Heiko; Liao, Zhuan; Chen, Jian-Min; Hamada, Shin

发表日期：2026

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When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classification

当剪接并非全有或全无时：GT>GC 5'剪接位点变异作为中间效应的模型及变异分类的挑战

期刊:HGG Advances

影响因子:3.6

doi:10.1016/j.xhgg.2026.100602

Lin, Jin-Huan; Wu, Hao; Tang, Xin-Ying; Masson, Emmanuelle; Stenson, Peter D; Phillips, Andrew D; Cooper, David N; Férec, Claude; Liao, Zhuan; Zou, Wen-Bin; Chen, Jian-Min

发表日期：2026

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AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis cases

AlphaMissense 与基于实验室的致病性预测方法对来自胰腺炎病例的 13 个新的 CPA1 错义变异进行分析

影响因子:25.8

doi:10.1136/gutjnl-2024-333697

Sándor, Máté; Scheers, Isabelle; Masamune, Atsushi; Witt, Heiko; LaRusch, Jessica; Chen, Jian-Min; Németh, Balázs Csaba; Geisz, Andrea; Uc, Aliye; Sahin-Tóth, Miklós

发表日期：2025

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SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges

SPINK1相关慢性胰腺炎：一个涵盖变异效应、遗传复杂性和分类挑战的模型

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2025.07.013

Wang, Yuan-Chen; Masson, Emmanuelle; Wang, Qi-Wen; Génin, Emmanuelle; Le Gac, Gérald; Fichou, Yann; Cooper, David N; Liao, Zhuan; Férec, Claude; Zou, Wen-Bin; Chen, Jian-Min

发表日期：2025

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Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer

SPINK1在胰腺炎连续谱和胰腺癌中的遗传学和临床意义

期刊:Human Genomics

影响因子:4.3

doi:10.1186/s40246-025-00740-x

Wang, Qi-Wen; Zou, Wen-Bin; Masson, Emmanuelle; Férec, Claude; Liao, Zhuan; Chen, Jian-Min

发表日期：2025

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Compound Heterozygous Complete Loss-of-Function SPINK1 Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency

SPINK1基因复合杂合完全功能丧失变异体是导致严重婴儿孤立性外分泌胰腺功能不全的新病因

影响因子:2.8

doi:10.3390/genes16090998

Masson, Emmanuelle; Wangermez, Marc; Tougeron, David; Rebours, Vinciane; Férec, Claude; Chen, Jian-Min

发表日期：2025

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Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism

以预先存在的Alu元件为介导的dsRNA结构形成为致病机制的Alu插入

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2024.08.016

Masson, Emmanuelle; Maestri, Sandrine; Bordeau, Valérie; Cooper, David N; Férec, Claude; Chen, Jian-Min

发表日期：2024

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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

结合全长基因检测和SpliceAI来解读所有可能的SPINK1编码变体的剪接影响

期刊:Human Genomics

影响因子:4.3

doi:10.1186/s40246-024-00586-9

Wu, Hao; Lin, Jin-Huan; Tang, Xin-Ying; Marenne, Gaëlle; Zou, Wen-Bin; Schutz, Sacha; Masson, Emmanuelle; Génin, Emmanuelle; Fichou, Yann; Le Gac, Gerald; Férec, Claude; Liao, Zhuan; Chen, Jian-Min

发表日期：2024

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Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis

羧酸酯脂肪酶杂合体1 (CEL-HYB1) 单倍型与慢性胰腺炎的风险存在差异。

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-024-82077-4

Berke, Gergő; Sándor, Máté; Xiao, Xunjun K; Lowe, Mark E; Ewers, Maren; Erőss, Bálint; Masson, Emmanuelle; Németh, Balázs Csaba; Vincze, Áron; Czakó, László; Rygiel, Agnieszka Magdalena; Rosendahl, Jonas; Chen, Jian-Min; Witt, Heiko; Hegyi, Péter; Sahin-Tóth, Miklós; Hegyi, Eszter

发表日期：2024

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The relationship between social support and professional identity of health professional students from a two-way social support theory perspective: chain mediating effects of achievement motivation and meaning in life

从双向社会支持理论视角探讨卫生专业学生社会支持与职业认同的关系：成就动机和生活意义的链式中介效应

期刊:BMC Medical Education

影响因子:3.2

doi:10.1186/s12909-024-05391-5

Luo, Jian; Liu, Xiao-Bo; Yao, Qian; Qu, Yi; Yang, Jin; Lin, Ke; Pan, Shi-Rong; Wang, Tian-Yi; Dai, Yun; Chen, Huan-Yu; Chen, Jian-Min; Yang, Zheng

发表日期：2024

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