Publications:

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AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Biology

Palheta, Helber Gonzales Almeida HGA; Gonçalves, Wanderson Gonçalves WG; Brito, Leonardo Miranda LM; Dos Santos, Arthur Ribeiro AR; Dos Reis Matsumoto, Marlon M; Ribeiro-Dos-Santos, Ândrea Â; de Araújo, Gilderlanio Santana GS

Publication Date: 2022-03-31

Variant appearance in text: APP: Ala201Val; rs149995579

PubMed Link: 35453737

Variant Present in the following documents:

• biology-11-00538.pdf

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MDGA1 negatively regulates amyloid precursor protein-mediated synapse inhibition in the hippocampus.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kim, Jinhu J; Kim, Seungjoon S; Kim, Hyeonho H; Hwang, In-Wook IW; Bae, Sungwon S; Karki, Sudeep S; Kim, Dongwook D; Ogelman, Roberto R; Bang, Geul G; Kim, Jin Young JY; Kajander, Tommi T; Um, Ji Won JW; Oh, Won Chan WC; Ko, Jaewon J

Publication Date: 2022-01-25

Variant appearance in text: APP: A201V

PubMed Link: 35074912

Variant Present in the following documents:

• Main text
• pnas.202115326.pdf
• pnas.2115326119.sd01.xlsx, sheet 7

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MDGA1 negatively regulates amyloid precursor protein-mediated synapse inhibition in the hippocampus.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kim, Jinhu J; Kim, Seungjoon S; Kim, Hyeonho H; Hwang, In-Wook IW; Bae, Sungwon S; Karki, Sudeep S; Kim, Dongwook D; Ogelman, Roberto R; Bang, Geul G; Kim, Jin Young JY; Kajander, Tommi T; Um, Ji Won JW; Oh, Won Chan WC; Ko, Jaewon J

Publication Date: 2022-01-25

Variant appearance in text: APP: A201V

PubMed Link: 35074912

Variant Present in the following documents:

• Main text
• pnas.202115326.pdf
• pnas.2115326119.sd01.xlsx, sheet 7

View BVdb publication page

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: APP: A201V

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

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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: APP: A201V

PubMed Link: 32087291

Variant Present in the following documents:

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

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Central and Peripheral Metabolic Defects Contribute to the Pathogenesis of Alzheimer's Disease: Targeting Mitochondria for Diagnosis and Prevention.

Antioxidants & Redox Signaling

Peng, Yunhua Y; Gao, Peipei P; Shi, Le L; Chen, Lei L; Liu, Jiankang J; Long, Jiangang J

Publication Date: 2020-06-01

Variant appearance in text: APP: A201V

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

View BVdb publication page

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Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Aging And Disease

Bi, Christopher C; Bi, Stephanie S; Li, Bin B

Publication Date: 2019-04

Variant appearance in text: APP: A201V

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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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: APP: 602C>T; A201V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

European Journal Of Human Genetics : Ejhg

Schulte, Eva C EC; Fukumori, Akio A; Mollenhauer, Brit B; Hor, Hyun H; Arzberger, Thomas T; Perneczky, Robert R; Kurz, Alexander A; Diehl-Schmid, Janine J; Hüll, Michael M; Lichtner, Peter P; Eckstein, Gertrud G; Zimprich, Alexander A; Haubenberger, Dietrich D; Pirker, Walter W; Brücke, Thomas T; Bereznai, Benjamin B; Molnar, Maria J MJ; Lorenzo-Betancor, Oswaldo O; Pastor, Pau P; Peters, Annette A; Gieger, Christian C; Estivill, Xavier X; Meitinger, Thomas T; Kretzschmar, Hans A HA; Trenkwalder, Claudia C; Haass, Christian C; Winkelmann, Juliane J

Publication Date: 2015-10

Variant appearance in text: APP: A201V; rs149995579

PubMed Link: 25604855

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease.

Neurobiology Of Aging

Sassi, Celeste C; Guerreiro, Rita R; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Al-Sarraj, Safa S; Niblock, Michael M; Gallo, Jean-Marc JM; Adnan, Jihad J; Killick, Richard R; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Morgan, Kevin K; Powell, John F JF; Singleton, Andrew A; Hardy, John J

Publication Date: 2014-12

Variant appearance in text: APP: 602C>T; A201V; rs149995579

PubMed Link: 25104557

Variant Present in the following documents:

• Main text

View BVdb publication page

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