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

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

长读长基因组和RNA测序解析了APC基因中致病性内含子生殖系LINE-1插入突变。

Alexandra A Baumann # ,Lisanne I Knol # ,Marie Arlt ,Tim Hutschenreiter ,Anja Richter ,Thomas J Widmann ,Marcus Franke ,Karl Hackmann ,Sylke Winkler ,Daniela Richter ,Isabel Spier ,Stefan Aretz ,Daniela Aust ,Joseph Porrmann ,Doreen William ,Evelin Schröck ,Hanno Glimm ,Arne Jahn

Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

疑似李-弗劳梅尼综合征的乳腺癌患者:突变谱、候选基因和未解释的遗传

Judith Penkert ,Gunnar Schmidt ,Winfried Hofmann ,Stephanie Schubert ,Maximilian Schieck ,Bernd Auber ,Tim Ripperger ,Karl Hackmann ,Marc Sturm ,Holger Prokisch ,Ursula Hille-Betz ,Dorothea Mark ,Thomas Illig ,Brigitte Schlegelberger ,Doris Steinemann

Blood RNA biomarkers in prodromal PARK4 and rapid eye movement sleep behavior disorder show role of complexin 1 loss for risk of Parkinson's disease

前驱 PARK4 和快速眼动睡眠行为障碍的血液 RNA 生物标志物表明复合蛋白 1 缺失对帕金森病风险有影响

Suna Lahut, Suzana Gispert, Özgür Ömür, Candan Depboylu, Kay Seidel, Jorge Antolio Domínguez-Bautista, Nadine Brehm, Hülya Tireli, Karl Hackmann, Caroline Pirkevi, Barbara Leube, Vincent Ries, Kerstin Reim, Nils Brose, Wilfred F den Dunnen, Madrid Johnson, Zsuzsanna Wolf, Marc Schindewolf, Wiebke Sc

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

在跨国家族性乳腺癌和卵巢癌患者队列中对 ERCC2 突变进行识别和功能测试

Andreas Rump, Anna Benet-Pages, Steffen Schubert, Jan Dominik Kuhlmann, Ramūnas Janavičius, Eva Macháčková, Lenka Foretová, Zdenek Kleibl, Filip Lhota, Petra Zemankova, Elitza Betcheva-Krajcir, Luisa Mackenroth, Karl Hackmann, Janin Lehmann, Anke Nissen, Nataliya DiDonato, Romy Opitz, Holger Thiele,

Highly significant antiviral activity of HIV-1 LTR-specific tre-recombinase in humanized mice

HIV-1 LTR 特异性 tre 重组酶在人源化小鼠中具有高度显著的抗病毒活性

Ilona Hauber, Helga Hofmann-Sieber, Jan Chemnitz, Danilo Dubrau, Janet Chusainow, Rolf Stucka, Philip Hartjen, Axel Schambach, Patrick Ziegler, Karl Hackmann, Evelin Schröck, Udo Schumacher, Christoph Lindner, Adam Grundhoff, Christopher Baum, Markus G Manz, Frank Buchholz, Joachim Hauber

Essential role of cleavage of Polycystin-1 at G protein-coupled receptor proteolytic site for kidney tubular structure

多囊蛋白-1在G蛋白偶联受体蛋白水解位点的裂解对肾小管结构的重要作用

Shengqiang Yu, Karl Hackmann, Jiangang Gao, Xiaobing He, Klaus Piontek, Miguel A García-González, Luis F Menezes, Hangxue Xu, Gregory G Germino, Jian Zuo, Feng Qian