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: SNCA: 381G>A; Met127Ile; rs191055637

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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Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Frontiers In Aging Neuroscience

Guo, Yi Y; Sun, Yan Y; Song, Zhi Z; Zheng, Wen W; Xiong, Wei W; Yang, Yan Y; Yuan, Lamei L; Deng, Hao H

Publication Date: 2021

Variant appearance in text: SNCA: 381G>A; Met127Ile; rs191055637

PubMed Link: 34456707

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.

Neural Regeneration Research

Wen, Ya-Fei YF; Xiao, Xue-Wen XW; Zhou, Lu L; Jiang, Ya-Ling YL; Zhu, Yuan Y; Guo, Li-Na LN; Wang, Xin X; Liu, Hui H; Zhou, Ya-Fang YF; Wang, Jun-Ling JL; Liao, Xin-Xin XX; Shen, Lu L; Jiao, Bin B

Publication Date: 2022-03

Variant appearance in text: SNCA: 381G>A; M127I; rs191055637

PubMed Link: 34380910

Variant Present in the following documents:

• Main text
• NRR-17-682.pdf

View BVdb publication page

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A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Parkinsonism & Related Disorders

Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V

Publication Date: 2021-08

Variant appearance in text: SNCA: Met127Ile

PubMed Link: 34229155

Variant Present in the following documents:

• Main text
• nihms-1752483.pdf

View BVdb publication page

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Analysis of rare variants of autosomal-dominant genes in a Chinese population with sporadic Parkinson's disease.

Molecular Genetics & Genomic Medicine

Zheng, Ran R; Jin, Chong-Yao CY; Chen, Ying Y; Ruan, Yang Y; Gao, Ting T; Lin, Zhi-Hao ZH; Dong, Jia-Xian JX; Yan, Ya-Ping YP; Tian, Jun J; Pu, Jia-Li JL; Zhang, Bao-Rong BR

Publication Date: 2020-10

Variant appearance in text: SNCA: Met127Ile; rs191055637

PubMed Link: 32794657

Variant Present in the following documents:

• Main text
• MGG3-8-e1449.pdf

View BVdb publication page

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Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Scientific Reports

Giau, Vo Van VV; Bagyinszky, Eva E; Yang, Young Soon YS; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, Sang Yun SY

Publication Date: 2019-06-10

Variant appearance in text: SNCA: 381G>A; Met127Ile; rs191055637

PubMed Link: 31182772

Variant Present in the following documents:

• 41598_2019_44848_MOESM1_ESM.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SNCA: 381G>A; M127I

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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