Publications:

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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: 2140A>G; Thr714Ala

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: APP: 2140A>G; Thr714Ala

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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Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.

Frontiers In Aging Neuroscience

Liu, Yingzi Y; Xiao, Xuewen X; Liu, Hui H; Liao, Xinxin X; Zhou, Yafang Y; Weng, Ling L; Zhou, Lu L; Liu, Xixi X; Bi, Xiang-Yun XY; Xu, Tianyan T; Zhu, Yuan Y; Yang, Qijie Q; Zhang, Sizhe S; Hao, Xiaoli X; Zhang, Weiwei W; Wang, Junling J; Jiao, Bin B; Shen, Lu L

Publication Date: 2022

Variant appearance in text: APP: T714A

PubMed Link: 36313020

Variant Present in the following documents:

• Main text
• fnagi-14-1013295.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: T714A

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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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: T714A

PubMed Link: 34948396

Variant Present in the following documents:

• Main text
• ijms-22-13600.pdf

View BVdb publication page

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The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.

Plos One

Guyon, Antoine A; Rousseau, Joël J; Lamothe, Gabriel G; Tremblay, Jacques P JP

Publication Date: 2020

Variant appearance in text: APP: T714A

PubMed Link: 33370284

Variant Present in the following documents:

• Main text
• pone.0237122.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: APP: 2140A>G; Thr714Ala

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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: T714A

PubMed Link: 32050773

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: APP: 2140A>G

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 7
• Supplementary_Data2.xlsx, sheet 6

View BVdb publication page

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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: Thr714Ala

PubMed Link: 31847365

Variant Present in the following documents:

• Main text
• ijms-20-06319.pdf

View BVdb publication page

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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences

Giau, Vo Van VV; Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2019-09-25

Variant appearance in text: APP: Thr714Ala

PubMed Link: 31557888

Variant Present in the following documents:

• Main text
• ijms-20-04757.pdf

View BVdb publication page

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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: APP: T714A

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM14_ESM.xlsx, sheet 5

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: T714A

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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The genes associated with early-onset Alzheimer's disease.

Oncotarget

Dai, Meng-Hui MH; Zheng, Hui H; Zeng, Ling-Dan LD; Zhang, Yan Y

Publication Date: 2018-03-13

Variant appearance in text: APP: Thr714Ala

PubMed Link: 29599933

Variant Present in the following documents:

• oncotarget-09-15132.pdf

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Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Frontiers In Molecular Neuroscience

Sun, Qiying Q; Xie, Nina N; Tang, Beisha B; Li, Rena R; Shen, Yong Y

Publication Date: 2017

Variant appearance in text: APP: T714A

PubMed Link: 29056900

Variant Present in the following documents:

• Main text
• fnmol-10-00319.pdf

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Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2016

Variant appearance in text: APP: Thr714Ala

PubMed Link: 27799753

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of ROS and RNS Sources in Physiological and Pathological Conditions.

Oxidative Medicine And Cellular Longevity

Di Meo, Sergio S; Reed, Tanea T TT; Venditti, Paola P; Victor, Victor Manuel VM

Publication Date: 2016

Variant appearance in text: APP: THr714ALa

PubMed Link: 27478531

Variant Present in the following documents:

• OMCL2016-1245049.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: T714A

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: T714A

PubMed Link: 26282939

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: APP: T714A

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Clinical genetics of Alzheimer's disease.

Biomed Research International

Zou, Zhangyu Z; Liu, Changyun C; Che, Chunhui C; Huang, Huapin H

Publication Date: 2014

Variant appearance in text: APP: THr714ALa

PubMed Link: 24955352

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics of Alzheimer's disease.

Clinical Interventions In Aging

Bagyinszky, Eva E; Youn, Young Chul YC; An, Seong Soo A SS; Kim, SangYun S

Publication Date: 2014

Variant appearance in text: APP: Thr714Ala

PubMed Link: 24729694

Variant Present in the following documents:

• Main text
• cia-9-535.pdf

View BVdb publication page

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Early onset Alzheimer's disease and oxidative stress.

Oxidative Medicine And Cellular Longevity

Meraz-Ríos, Marco Antonio MA; Franco-Bocanegra, Diana D; Toral Rios, Danira D; Campos-Peña, Victoria V

Publication Date: 2014

Variant appearance in text: APP: T714A

PubMed Link: 24669286

Variant Present in the following documents:

• Main text
• OMCL2014-375968.pdf

View BVdb publication page

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Comparable dimerization found in wildtype and familial Alzheimer's disease amyloid precursor protein mutants.

American Journal Of Neurodegenerative Disease

So, Pauline Pl PP; Khodr, Christina E CE; Chen, Ci-Di CD; Abraham, Carmela R CR

Publication Date: 2013

Variant appearance in text: APP: T714A

PubMed Link: 23515184

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.

Alzheimer'S Research & Therapy

Weggen, Sascha S; Beher, Dirk D

Publication Date: 2012-03-30

Variant appearance in text: APP: T714A

PubMed Link: 22494386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Plos One

Buizza, Laura L; Cenini, Giovanna G; Lanni, Cristina C; Ferrari-Toninelli, Giulia G; Prandelli, Chiara C; Govoni, Stefano S; Buoso, Erica E; Racchi, Marco M; Barcikowska, Maria M; Styczynska, Maria M; Szybinska, Aleksandra A; Butterfield, David Allan DA; Memo, Maurizio M; Uberti, Daniela D

Publication Date: 2012

Variant appearance in text: APP: T714A

PubMed Link: 22242180

Variant Present in the following documents:

• Main text

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The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease.

International Journal Of Alzheimer'S Disease

Padovani, Alessandro A; Gilberti, Nicola N; Borroni, Barbara B

Publication Date: 2011-02-21

Variant appearance in text: APP: THr714ALa

PubMed Link: 21559247

Variant Present in the following documents:

• IJAD2011-296374.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: T714A

PubMed Link: 21519520

Variant Present in the following documents:

• jcn-7-1.pdf

View BVdb publication page

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A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation.

Epilepsia

Noebels, Jeffrey J

Publication Date: 2011-01

Variant appearance in text: APP: Thr714Ala

PubMed Link: 21214538

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dimerization of the transmembrane domain of amyloid precursor proteins and familial Alzheimer's disease mutants.

Bmc Neuroscience

Gorman, Paul M PM; Kim, Sanguk S; Guo, Meng M; Melnyk, Roman A RA; McLaurin, Joanne J; Fraser, Paul E PE; Bowie, James U JU; Chakrabartty, Avijit A

Publication Date: 2008-01-30

Variant appearance in text: APP: Thr714Ala

PubMed Link: 18234110

Variant Present in the following documents:

• 1471-2202-9-17.pdf

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