Publications:

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Association of APP gene polymorphisms and promoter methylation with essential hypertension in Guizhou: a case-control study.

Human Genomics

Li, Ruichao R; Song, Juhui J; Zhao, Ansu A; Diao, Xiaoyan X; Zhang, Ting T; Qi, Xiaolan X; Guan, Zhizhong Z; An, Yu Y; Ren, Lingyan L; Wang, Chanjuan C; He, Yan Y

Publication Date: 2023-03-20

Variant appearance in text: rs63750921

PubMed Link: 36941702

Variant Present in the following documents:

• Main text
• 40246_2023_Article_462.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APP: 2113C>G; Leu705Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Main features of hereditary cerebral amyloid angiopathies: A systematic review.

Cerebral Circulation - Cognition And Behavior

Biffi, Alessandro A

Publication Date: 2022

Variant appearance in text: APP: L705V

PubMed Link: 36324420

Variant Present in the following documents:

• Main text
• main.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: L705V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.

International Journal Of Molecular Sciences

Kim, Meewhi M; Bezprozvanny, Ilya I

Publication Date: 2021-12-18

Variant appearance in text: APP: L705V

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

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The Neurovascular Unit Dysfunction in Alzheimer's Disease.

International Journal Of Molecular Sciences

Soto-Rojas, Luis O LO; Pacheco-Herrero, Mar M; Martínez-Gómez, Paola A PA; Campa-Córdoba, B Berenice BB; Apátiga-Pérez, Ricardo R; Villegas-Rojas, Marcos M MM; Harrington, Charles R CR; de la Cruz, Fidel F; Garcés-Ramírez, Linda L; Luna-Muñoz, José J

Publication Date: 2021-02-18

Variant appearance in text: APP: L705V

PubMed Link: 33670754

Variant Present in the following documents:

• Main text
• ijms-22-02022.pdf

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Understanding the Pathophysiology of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences

Gatti, Laura L; Tinelli, Francesca F; Scelzo, Emma E; Arioli, Francesco F; Di Fede, Giuseppe G; Obici, Laura L; Pantoni, Leonardo L; Giaccone, Giorgio G; Caroppo, Paola P; Parati, Eugenio Agostino EA; Bersano, Anna A

Publication Date: 2020-05-13

Variant appearance in text: APP: L705V

PubMed Link: 32414028

Variant Present in the following documents:

• Main text

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Hereditary cerebral amyloid angiopathy, Piedmont-type mutation.

Neurology. Genetics

Kozberg, Mariel G MG; van Veluw, Susanne J SJ; Frosch, Matthew P MP; Greenberg, Steven M SM

Publication Date: 2020-04

Variant appearance in text: APP: 2113C>G; Leu705Val

PubMed Link: 32337337

Variant Present in the following documents:

• Main text
• NG2019012708.pdf

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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: L705V

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

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The Amyloid-Tau-Neuroinflammation Axis in the Context of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences

Cisternas, Pablo P; Taylor, Xavier X; Lasagna-Reeves, Cristian A CA

Publication Date: 2019-12-14

Variant appearance in text: APP: L705V

PubMed Link: 31847365

Variant Present in the following documents:

• Main text
• ijms-20-06319.pdf

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Cerebral amyloid angiopathy and Alzheimer disease - one peptide, two pathways.

Nature Reviews. Neurology

Greenberg, Steven M SM; Bacskai, Brian J BJ; Hernandez-Guillamon, Mar M; Pruzin, Jeremy J; Sperling, Reisa R; van Veluw, Susanne J SJ

Publication Date: 2020-01

Variant appearance in text: APP: Leu705Val

PubMed Link: 31827267

Variant Present in the following documents:

• Main text

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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: L705V

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: APP: 2113C>G; L705V

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 3

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Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.

Cold Spring Harbor Perspectives In Medicine

Tcw, Julia J; Goate, Alison M AM

Publication Date: 2017-06-01

Variant appearance in text: APP: L705V

PubMed Link: 28003277

Variant Present in the following documents:

• Main text

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Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs63750921

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

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Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.

Cell Discovery

Xu, Ting-Hai TH; Yan, Yan Y; Kang, Yanyong Y; Jiang, Yi Y; Melcher, Karsten K; Xu, H Eric HE

Publication Date: 2016

Variant appearance in text: APP: L705V

PubMed Link: 27625790

Variant Present in the following documents:

• celldisc201626-s1.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: AD1: L705V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Knockdown of BACE1-AS Nonprotein-Coding Transcript Modulates Beta-Amyloid-Related Hippocampal Neurogenesis.

International Journal Of Alzheimer'S Disease

Modarresi, Farzaneh F; Faghihi, Mohammad Ali MA; Patel, Nikunj S NS; Sahagan, Barbara G BG; Wahlestedt, Claes C; Lopez-Toledano, Miguel A MA

Publication Date: 2011

Variant appearance in text: APP: L705V

PubMed Link: 21785702

Variant Present in the following documents:

• IJAD2011-929042.pdf

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Cerebral amyloid angiopathy: a systematic review.

Journal Of Clinical Neurology (Seoul, Korea)

Biffi, Alessandro A; Greenberg, Steven M SM

Publication Date: 2011-03

Variant appearance in text: APP: L705V

PubMed Link: 21519520

Variant Present in the following documents:

• jcn-7-1.pdf

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Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.

International Journal Of Molecular Sciences

Kumar-Singh, Samir S

Publication Date: 2009-04-23

Variant appearance in text: APP: L705V

PubMed Link: 19468344

Variant Present in the following documents:

• Main text
• ijms-10-01872.pdf

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Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.

International Journal Of Molecular Sciences

Kumar-Singh, Samir S

Publication Date: 2009-04-23

Variant appearance in text: APP: L705V

PubMed Link: 19468344

Variant Present in the following documents:

• Main text
• ijms-10-01872.pdf

View BVdb publication page

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