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

De Novo Missense Mutations in TNNC1 and TNNI3 Causing Severe Infantile Cardiomyopathy Affect Myofilament Structure and Function and Are Modulated by Troponin Targeting Agents

TNNC1 和 TNNI3 中的新生错义突变导致严重的婴儿心肌病,影响肌丝结构和功能,并受到肌钙蛋白靶向药物的调节

Roua Hassoun, Heidi Budde, Hans Georg Mannherz, Mária Lódi, Setsuko Fujita-Becker, Kai Thorsten Laser, Anna Gärtner, Karin Klingel, Desirée Möhner, Robert Stehle, Innas Sultana, Thomas Schaaf, Mario Majchrzak, Verena Krause, Christian Herrmann, Marc M Nowaczyk, Andreas Mügge, Gabriele Pfitzer, Rasmu

Integrating evolutionary and regulatory information with a multispecies approach implicates genes and pathways in obsessive-compulsive disorder

将进化和调控信息与多物种方法相结合,揭示强迫症中的基因和途径

Hyun Ji Noh, Ruqi Tang, Jason Flannick, Colm O'Dushlaine, Ross Swofford, Daniel Howrigan, Diane P Genereux, Jeremy Johnson, Gerard van Grootheest, Edna Grünblatt, Erik Andersson, Diana R Djurfeldt, Paresh D Patel, Michele Koltookian, Christina M Hultman, Michele T Pato, Carlos N Pato, Steven A Rasmu