Publications:

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Rare variant aggregation in 148,508 exomes identifies genes associated with proxy dementia.

Scientific Reports

Wightman, Douglas P DP; Savage, Jeanne E JE; de Leeuw, Christiaan A CA; Jansen, Iris E IE; Posthuma, Danielle D

Publication Date: 2023-02-07

Variant appearance in text: APP: D243N

PubMed Link: 36750708

Variant Present in the following documents:

• 41598_2023_29108_MOESM1_ESM.xlsx, sheet 11

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APP: D243N; rs750279232

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: APP: D243N; rs750279232

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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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: Asp243Asn

PubMed Link: 35453737

Variant Present in the following documents:

• biology-11-00538.pdf

View BVdb publication page

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An APP ectodomain mutation outside of the Aβ domain promotes Aβ production in vitro and deposition in vivo.

The Journal Of Experimental Medicine

Zhang, Xulun X; Zhang, Can Martin CM; Prokopenko, Dmitry D; Liang, Yingxia Y; Zhen, Sherri Y SY; Weigle, Ian Q IQ; Han, Weinong W; Aryal, Manish M; Tanzi, Rudolph E RE; Sisodia, Sangram S SS

Publication Date: 2021-06-07

Variant appearance in text: APP: D243N

PubMed Link: 33822840

Variant Present in the following documents:

• Main text
• JEM_20210313.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: APP: D243N

PubMed Link: 32087291

Variant Present in the following documents:

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

View BVdb publication page

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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: D243N

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

View BVdb publication page

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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology

Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS

Publication Date: 2019-11-26

Variant appearance in text: APP: 727G>A; Asp243Asn; rs750279232

PubMed Link: 31719132

Variant Present in the following documents:

• NEUROLOGY2019966051.pdf

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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: D243N

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

View BVdb publication page

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Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Nicolas, Gaël G; Acuña-Hidalgo, Rocío R; Keogh, Michael J MJ; Quenez, Olivier O; Steehouwer, Marloes M; Lelieveld, Stefan S; Rousseau, Stéphane S; Richard, Anne-Claire AC; Oud, Manon S MS; Marguet, Florent F; Laquerrière, Annie A; Morris, Chris M CM; Attems, Johannes J; Smith, Colin C; Ansorge, Olaf O; Al Sarraj, Safa S; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Wallon, David D; Gilissen, Christian C; Chinnery, Patrick F PF; Veltman, Joris A JA; Hoischen, Alexander A

Publication Date: 2018-12

Variant appearance in text: APP: 727G>A; Asp243Asn

PubMed Link: 30114415

Variant Present in the following documents:

• EMS83060-supplement-Supplementary_Tables_S1_S10.xlsx, sheet 6

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: APP: D243N

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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