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

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

离子通道基因 TRPM3 的功能获得性变异是一系列神经发育障碍的根本原因

Lydie Burglen #, Evelien Van Hoeymissen #, Leila Qebibo, Magalie Barth, Newell Belnap, Felix Boschann, Christel Depienne, Katrien De Clercq, Andrew G L Douglas, Mark P Fitzgerald, Nicola Foulds, Catherine Garel, Ingo Helbig, Katharina Held, Denise Horn, Annelies Janssen, Angela M Kaindl, Vinodh Nara

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

与小头畸形、智力障碍和癫痫发作相关的双等位基因 ADARB1 变异

Tiong Yang Tan, Jiří Sedmík, Mark P Fitzgerald, Rivka Sukenik Halevy, Liam P Keegan, Ingo Helbig, Lina Basel-Salmon, Lior Cohen, Rachel Straussberg, Wendy K Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B Howell, Susan M White, John Christodoul

A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat

Eml1 基因缺失导致 tish 大鼠双侧皮层下异位

Denise K Grosenbaugh, Suchitra Joshi, Mark P Fitzgerald, Kevin S Lee, Pravin K Wagley, Alexander F Koeppel, Stephen D Turner, Michael J McConnell, Howard P Goodkin

RUNX1 and RUNX2 transcription factors function in opposing roles to regulate breast cancer stem cells

RUNX1 和 RUNX2 转录因子在调控乳腺癌干细胞方面发挥着相反的作用。

Andrew J Fritz ,Deli Hong ,Joseph Boyd ,Jason Kost ,Kristiaan H Finstaad ,Mark P Fitzgerald ,Sebastian Hanna ,Alqassem H Abuarqoub ,Miles Malik ,John Bushweller ,Coralee Tye ,Prachi Ghule ,Jonathan Gordon ,Seth Frietze ,Sayyed K Zaidi ,Jane B Lian ,Janet L Stein ,Gary S Stein

Suppression of Breast Cancer Stem Cells and Tumor Growth by the RUNX1 Transcription Factor

RUNX1转录因子抑制乳腺癌干细胞和肿瘤生长

Deli Hong ,Andrew J Fritz ,Kristiaan H Finstad ,Mark P Fitzgerald ,Adam Weinheimer ,Adam L Viens ,Jon Ramsey ,Janet L Stein ,Jane B Lian ,Gary S Stein

Genome-Wide Studies Reveal that H3K4me3 Modification in Bivalent Genes Is Dynamically Regulated during the Pluripotent Cell Cycle and Stabilized upon Differentiation

全基因组研究表明,二价基因中的 H3K4me3 修饰在多能细胞周期中受到动态调控,并在分化时保持稳定

Rodrigo A Grandy, Troy W Whitfield, Hai Wu, Mark P Fitzgerald, Jennifer J VanOudenhove, Sayyed K Zaidi, Martin A Montecino, Jane B Lian, André J van Wijnen, Janet L Stein, Gary S Stein