Publications:

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PSEN1: 1055G>A; Arg352His

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

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Prognostic significance of frequent CLDN18-ARHGAP26/6 fusion in gastric signet-ring cell cancer.

Nature Communications

Shu, Yang Y; Zhang, Weihan W; Hou, Qianqian Q; Zhao, Linyong L; Zhang, Shouyue S; Zhou, Jiankang J; Song, Xiaohai X; Zhang, Yan Y; Jiang, Dan D; Chen, Xinzu X; Wang, Peiqi P; Xia, Xuyang X; Liao, Fei F; Yin, Dandan D; Chen, Xiaolong X; Zhou, Xueyan X; Zhang, Duyu D; Yin, Senlin S; Yang, Kun K; Liu, Jianping J; Fu, Leilei L; Zhang, Lan L; Wang, Yuelan Y; Zhang, Junlong J; An, Yunfei Y; Cheng, Hua H; Zheng, Bin B; Sun, Hongye H; Zhao, Yinglan Y; Wang, Yongsheng Y; Xie, Dan D; Ouyang, Liang L; Wang, Ping P; Zhang, Wei W; Qiu, Meng M; Fu, Xianghui X; Dai, Lunzhi L; He, Gu G; Yang, Hanshuo H; Cheng, Wei W; Yang, Li L; Liu, Bo B; Li, Weimin W; Dong, Biao B; Zhou, Zongguang Z; Wei, Yuquan Y; Peng, Yong Y; Xu, Heng H; Hu, Jiankun J

Publication Date: 2018-06-30

Variant appearance in text: PSEN1: R352H

PubMed Link: 29961079

Variant Present in the following documents:

• 41467_2018_4907_MOESM4_ESM.xlsx, sheet 1

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Autosomal Dominant Alzheimer Disease: A Unique Resource to Study CSF Biomarker Changes in Preclinical AD.

Frontiers In Neurology

Schindler, Suzanne Elizabeth SE; Fagan, Anne M AM

Publication Date: 2015

Variant appearance in text: PSEN1: R352H

PubMed Link: 26175713

Variant Present in the following documents:

• Main text
• fneur-06-00142.pdf

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Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4.

Alzheimer'S Research & Therapy

Pollen, Daniel A DA; Baker, Stephen S; Hinerfeld, Douglas D; Swearer, Joan J; Evans, Barbara A BA; Evans, James E JE; Caselli, Richard R; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Moonis, Majaz M

Publication Date: 2010-10-29

Variant appearance in text: PSEN1: R352H

PubMed Link: 21062519

Variant Present in the following documents:

• Main text
• alzrt55.pdf

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