Publications:

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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: 1054C>T; Arg352Cys; rs571825723

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine

Qin, Qi Q; Yin, Yunsi Y; Wang, Yan Y; Lu, Yuanyuan Y; Tang, Yi Y; Jia, Jianping J

Publication Date: 2020-10

Variant appearance in text: PSEN1: 1054C>T

PubMed Link: 32767553

Variant Present in the following documents:

• Main text
• MGG3-8-e1443.pdf

View BVdb publication page

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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences

Gan, Chen-Ling CL; Zhang, Tao T; Lee, Tae Ho TH

Publication Date: 2020-03-30

Variant appearance in text: PSEN1: R352C

PubMed Link: 32235595

Variant Present in the following documents:

• Main text
• ijms-21-02381.pdf

View BVdb publication page

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Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Neurobiology Of Disease

Hsu, Simon S; Pimenova, Anna A AA; Hayes, Kimberly K; Villa, Juan A JA; Rosene, Matthew J MJ; Jere, Madhavi M; Goate, Alison M AM; Karch, Celeste M CM

Publication Date: 2020-06

Variant appearance in text: PSEN1: R352C

PubMed Link: 32087291

Variant Present in the following documents:

• Main text
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 2
• NIHMS1588025-supplement-Supplemental_Table.xlsx, sheet 1
• nihms-1588025.pdf

View BVdb publication page

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: PSEN1: Arg352Cys

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

View BVdb publication page

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Disease Pathway Cut for Multi-Target drugs.

Bmc Bioinformatics

Bang, Sunjoo S; Son, Sangjoon S; Kim, Sooyoung S; Shin, Hyunjung H

Publication Date: 2019-02-13

Variant appearance in text: PSEN1: R352C

PubMed Link: 30760209

Variant Present in the following documents:

• 12859_2019_Article_2638.pdf

View BVdb publication page

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Gene mutations in a Han Chinese Alzheimer's disease cohort.

Brain And Behavior

Ma, Limin L; Zhang, Jiewen J; Shi, Yingying Y; Wang, Wan W; Ren, Zhixia Z; Xia, Mingrong M; Zhang, Yuanxing Y; Yang, Miaomiao M

Publication Date: 2019-01

Variant appearance in text: PSEN1: R352C

PubMed Link: 30549411

Variant Present in the following documents:

• BRB3-9-e01180.pdf

View BVdb publication page

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: PSEN1: Arg352Cys

PubMed Link: 27799753

Variant Present in the following documents:

• Main text
• cia-11-1467.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PSEN1: R352C

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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