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

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework

通过将系统性功能分析的结果整合到基于ACMG评分的框架中,对意义未明的ATM错义变异进行重新分类

Helmut Hanenberg # ,Fan Zhang # ,Nikita Malev ,Constanze Wiek ,Brett G Klamer ,Nicolas Nassar ,Tyler Hesselbrock ,Judith H Hanenberg ,Amber M Aeilts ,Julia Hentschel ,Ulrike Faust ,Andrea Gehrig ,Christoph Engel ,Jan Hauke ,Dieter Niederacher ,Amanda E Toland ,Paul R Andreassen

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair

乳腺癌相关的 PALB2 WD40 结构域错义突变体直接与 RAD51C、RAD51 和 BRCA2 结合,破坏 DNA 修复

J-Y Park, T R Singh, N Nassar, F Zhang, M Freund, H Hanenberg, A R Meetei, P R Andreassen

Evidence for a novel anti-apoptotic pathway in human keratinocytes involving the aryl hydrocarbon receptor, E2F1, and checkpoint kinase 1

人类角质形成细胞中存在一种新的抗凋亡途径,涉及芳烃受体、E2F1 和检查点激酶 1

K Frauenstein, U Sydlik, J Tigges, M Majora, C Wiek, H Hanenberg, J Abel, C Esser, E Fritsche, J Krutmann, T Haarmann-Stemmann