Publications:

---

Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn.

International Journal Of Molecular Sciences

Bae, Heewon H; Shim, Kyu Hwan KH; Yoo, Jang J; Yang, Young-Soon YS; An, Seong Soo A SSA; Kang, Min-Ju MJ

Publication Date: 2023-04-18

Variant appearance in text: APP: Tyr538His

PubMed Link: 37108607

Variant Present in the following documents:

• Main text
• ijms-24-07446.pdf

View BVdb publication page

---

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: Y538H; rs779792929

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

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: Y538H

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

View BVdb publication page

---

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: Y538H

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Y538H

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

View BVdb publication page

---

Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease.

Neuropsychiatric Disease And Treatment

Van Giau, Vo V; Senanarong, Vorapun V; Bagyinszky, Eva E; Limwongse, Chanin C; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: APP: Y538H

PubMed Link: 30510423

Variant Present in the following documents:

• Main text
• ndt-14-3015.pdf

View BVdb publication page

---

Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: APP: 1612T>C; Y538H

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM11_ESM.xlsx, sheet 4

View BVdb publication page

---

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: 1612T>C; Y538H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Current Medicinal Chemistry

Rozpedek, Wioletta W; Markiewicz, Lukasz L; Diehl, J Alan JA; Pytel, Dariusz D; Majsterek, Ireneusz I

Publication Date: 2015

Variant appearance in text: APP: Y538H

PubMed Link: 26282939

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 1612T>C; Y538H

PubMed Link: 25104557

Variant Present in the following documents:

• Main text

View BVdb publication page

---