Variant ID: 21-27264096-C-T

NM_000484.3(APP):c.2149G>A;(p.Val717Ile)

This variant was identified in 638 publications




Publications:


Phosphoproteomics identifies microglial Siglec-F inflammatory response during neurodegeneration.

Molecular Systems Biology
N Morshed, WT Ralvenius, A Nott, LA Watson, FH Rodriguez, LA Akay, BA Joughin, PC Pao, J Penney, L LaRocque, D Mastroeni, LH Tsai, FM White
Publication Date: 2020-12

Variant appearance in text: APP: V717I
PubMed Link: 33289969
Variant Present in the following documents:
  • Main text
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Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?

Neurology. Genetics
C Reitz, E Rogaeva, GW Beecham
Publication Date: 2020-10

Variant appearance in text: APP: Val717Ile
PubMed Link: 33225065
Variant Present in the following documents:
  • Main text
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Phytohormone Abscisic Acid Improves Memory Impairment and Reduces Neuroinflammation in 5xFAD Mice by Upregulation of LanC-Like Protein 2.

International Journal Of Molecular Sciences
SH Jeon, N Kim, YJ Ju, MS Gee, D Lee, JK Lee
Publication Date: 2020-11-10

Variant appearance in text: APP: V717I
PubMed Link: 33182586
Variant Present in the following documents:
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An Overview of Astrocyte Responses in Genetically Induced Alzheimer's Disease Mouse Models.

Cells
F Spanos, SA Liddelow
Publication Date: 2020-11-04

Variant appearance in text: APP: V717I
PubMed Link: 33158189
Variant Present in the following documents:
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Neuron Loss in Alzheimer's Disease: Translation in Transgenic Mouse Models.

International Journal Of Molecular Sciences
O Wirths, S Zampar
Publication Date: 2020-10-30

Variant appearance in text: APP: V717I
PubMed Link: 33143374
Variant Present in the following documents:
  • Main text
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APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer's disease patient iPSC-derived cerebral organoids.

Nature Communications
J Zhao, Y Fu, Y Yamazaki, Y Ren, MD Davis, CC Liu, W Lu, X Wang, K Chen, Y Cherukuri, L Jia, YA Martens, L Job, F Shue, TT Nguyen, SG Younkin, NR Graff-Radford, ZK Wszolek, DA Brafman, YW Asmann, N Ertekin-Taner, T Kanekiyo, G Bu
Publication Date: 2020-11-02

Variant appearance in text: APP: V717I
PubMed Link: 33139712
Variant Present in the following documents:
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Altered Expression of Glial Gap Junction Proteins Cx43, Cx30, and Cx47 in the 5XFAD Model of Alzheimer's Disease.

Frontiers In Neuroscience
S Angeli, I Kousiappa, M Stavrou, I Sargiannidou, E Georgiou, SS Papacostas, KA Kleopa
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 33117125
Variant Present in the following documents:
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Gene expression and functional deficits underlie TREM2-knockout microglia responses in human models of Alzheimer's disease.

Nature Communications
A McQuade, YJ Kang, J Hasselmann, A Jairaman, A Sotelo, M Coburn, SK Shabestari, JP Chadarevian, G Fote, CH Tu, E Danhash, J Silva, E Martinez, C Cotman, GA Prieto, LM Thompson, JS Steffan, I Smith, H Davtyan, M Cahalan, H Cho, M Blurton-Jones
Publication Date: 2020-10-23

Variant appearance in text: APP: V717I
PubMed Link: 33097708
Variant Present in the following documents:
  • Main text
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CRISPR-Cas9: A Promising Genome Editing Therapeutic Tool for Alzheimer's Disease-A Narrative Review.

Neurology And Therapy
NC Barman, NM Khan, M Islam, Z Nain, RK Roy, A Haque, SK Barman
Publication Date: 2020-12

Variant appearance in text: APP: V717I
PubMed Link: 33089409
Variant Present in the following documents:
  • Main text
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Angiotensin Converting Enzyme Inhibitors and Angiotensin Receptor Blockers rescue memory defects in Drosophila expressing Alzheimer's disease-related transgenes independently of the canonical Renin Angiotensin System.

Eneuro
SH Lee, SM Gomes, J Ghalayini, KG Iliadi, GL Boulianne
Publication Date: 2020-10-15

Variant appearance in text: APP: V717I
PubMed Link: 33060184
Variant Present in the following documents:
  • Main text
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Identification of KIAA0513 and Other Hub Genes Associated With Alzheimer Disease Using Weighted Gene Coexpression Network Analysis.

Frontiers In Genetics
M Zhu, L Jia, F Li, J Jia
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 33005179
Variant Present in the following documents:
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Stem cell therapy for Alzheimer's disease.

World Journal Of Stem Cells
XY Liu, LP Yang, L Zhao
Publication Date: 2020-08-26

Variant appearance in text: APP: V717I
PubMed Link: 32952859
Variant Present in the following documents:
  • Main text
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Modulation of the Aβ-Peptide-Aggregation Pathway by Active Compounds From Platycladus orientalis Seed Extract in Alzheimer's Disease Models.

Frontiers In Aging Neuroscience
L Yan, X He, Y Jin, J Wang, F Liang, R Pei, P Li, Y Wang, W Su
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32922281
Variant Present in the following documents:
  • Main text
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Development and Technical Validation of an Immunoassay for the Detection of APP669-711 (Aβ-3-40) in Biological Samples.

International Journal Of Molecular Sciences
HW Klafki, P Rieper, A Matzen, S Zampar, O Wirths, J Vogelgsang, D Osterloh, L Rohdenburg, TJ Oberstein, O Jahn, I Beyer, I Lachmann, HJ Knölker, J Wiltfang
Publication Date: 2020-09-08

Variant appearance in text: APP: V717I
PubMed Link: 32911706
Variant Present in the following documents:
  • Main text
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Untangling the origin and function of granulovacuolar degeneration bodies in neurodegenerative proteinopathies.

Acta Neuropathologica Communications
VI Wiersma, JJM Hoozemans, W Scheper
Publication Date: 2020-09-03

Variant appearance in text: APP: V717I
PubMed Link: 32883341
Variant Present in the following documents:
  • Main text
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The Alzheimer's disease-associated C99 fragment of APP regulates cellular cholesterol trafficking.

The Embo Journal
J Montesinos, M Pera, D Larrea, C Guardia-Laguarta, RR Agrawal, KR Velasco, TD Yun, IG Stavrovskaya, Y Xu, SY Koo, AM Snead, AA Sproul, E Area-Gomez
Publication Date: 2020-10-15

Variant appearance in text: APP: V717I
PubMed Link: 32865299
Variant Present in the following documents:
  • Main text
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Structure, Function, and Regulation of the Blood-Brain Barrier Tight Junction in Central Nervous System Disorders.

Frontiers In Physiology
JJ Lochhead, J Yang, PT Ronaldson, TP Davis
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32848858
Variant Present in the following documents:
  • Main text
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Cognitive Function Improvement in Mouse Model of Alzheimer's Disease Following Transcranial Direct Current Stimulation.

Brain Sciences
WI Kim, JY Han, MK Song, HK Park, J Jo
Publication Date: 2020-08-12

Variant appearance in text: APP: V717I
PubMed Link: 32806774
Variant Present in the following documents:
  • Main text
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Therapeutic Trem2 activation ameliorates amyloid-beta deposition and improves cognition in the 5XFAD model of amyloid deposition.

Journal Of Neuroinflammation
BR Price, TL Sudduth, EM Weekman, S Johnson, D Hawthorne, A Woolums, DM Wilcock
Publication Date: 2020-08-14

Variant appearance in text: APP: V717I
PubMed Link: 32795308
Variant Present in the following documents:
  • Main text
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Physical exercise in the prevention and treatment of Alzheimer's disease.

Journal Of Sport And Health Science
A De la Rosa, G Olaso-Gonzalez, C Arc-Chagnaud, F Millan, A Salvador-Pascual, C García-Lucerga, C Blasco-Lafarga, E Garcia-Dominguez, A Carretero, AG Correas, J Viña, MC Gomez-Cabrera
Publication Date: 2020-09

Variant appearance in text: APP: V717I
PubMed Link: 32780691
Variant Present in the following documents:
  • Main text
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Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.

Molecular Genetics & Genomic Medicine
Q Qin, Y Yin, Y Wang, Y Lu, Y Tang, J Jia
Publication Date: 2020-10

Variant appearance in text: APP: 2149G>A; V717I
PubMed Link: 32767553
Variant Present in the following documents:
  • Main text
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Protective Effects of Pituitary Adenylate Cyclase-Activating Polypeptide and Vasoactive Intestinal Peptide Against Cognitive Decline in Neurodegenerative Diseases.

Frontiers In Cellular Neuroscience
I Solés-Tarrés, N Cabezas-Llobet, D Vaudry, X Xifró
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32765225
Variant Present in the following documents:
  • Main text
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Intravenous Injection of PHF-Tau Proteins From Alzheimer Brain Exacerbates Neuroinflammation, Amyloid Beta, and Tau Pathologies in 5XFAD Transgenic Mice.

Frontiers In Molecular Neuroscience
S Houben, MA de Fisenne, K Ando, V Vanden Dries, L Poncelet, Z Yilmaz, S Mansour, R De Decker, JP Brion, K Leroy
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32765217
Variant Present in the following documents:
  • Main text
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Brain-Derived Neurotrophic Factor (BDNF) Preserves the Functional Integrity of Neural Networks in the β-Amyloidopathy Model in vitro.

Frontiers In Cell And Developmental Biology
EV Mitroshina, RS Yarkov, TA Mishchenko, VG Krut', MS Gavrish, EA Epifanova, AA Babaev, MV Vedunova
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32733889
Variant Present in the following documents:
  • Main text
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Phosphorylated Aβ peptides in human Down syndrome brain and different Alzheimer's-like mouse models.

Acta Neuropathologica Communications
S Kumar, CA Lemere, J Walter
Publication Date: 2020-07-29

Variant appearance in text: APP: V717I
PubMed Link: 32727580
Variant Present in the following documents:
  • Main text
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Integrated analysis of ultra-deep proteomes in cortex, cerebrospinal fluid and serum reveals a mitochondrial signature in Alzheimer's disease.

Molecular Neurodegeneration
H Wang, KK Dey, PC Chen, Y Li, M Niu, JH Cho, X Wang, B Bai, Y Jiao, SR Chepyala, V Haroutunian, B Zhang, TG Beach, J Peng
Publication Date: 2020-07-25

Variant appearance in text: APP: V717I
PubMed Link: 32711556
Variant Present in the following documents:
  • Main text
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Natural Medicines and Their Underlying Mechanisms of Prevention and Recovery from Amyloid Β-Induced Axonal Degeneration in Alzheimer's Disease.

International Journal Of Molecular Sciences
T Kuboyama, X Yang, C Tohda
Publication Date: 2020-06-30

Variant appearance in text: APP: V717I
PubMed Link: 32630004
Variant Present in the following documents:
  • Main text
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Intranasal Dantrolene as a Disease-Modifying Drug in Alzheimer 5XFAD Mice.

Journal Of Alzheimer'S Disease : Jad
Y Shi, L Zhang, X Gao, J Zhang, M Ben Abou, G Liang, Q Meng, A Hepner, MF Eckenhoff, H Wei
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32623395
Variant Present in the following documents:
  • Main text
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Neurofilament-Light Chain as Biomarker of Neurodegenerative and Rare Diseases With High Translational Value.

Frontiers In Neuroscience
T Loeffler, I Schilcher, S Flunkert, B Hutter-Paier
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32595447
Variant Present in the following documents:
  • Main text
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Human iPSC-Derived Hippocampal Spheroids: An Innovative Tool for Stratifying Alzheimer Disease Patient-Specific Cellular Phenotypes and Developing Therapies.

Stem Cell Reports
Y Pomeshchik, O Klementieva, J Gil, I Martinsson, MG Hansen, T de Vries, A Sancho-Balsells, K Russ, E Savchenko, A Collin, AR Vaz, S Bagnoli, B Nacmias, C Rampon, S Sorbi, D Brites, G Marko-Varga, Z Kokaia, M Rezeli, GK Gouras, L Roybon
Publication Date: 2020-07-14

Variant appearance in text: APP: V717I
PubMed Link: 32589876
Variant Present in the following documents:
  • Main text
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Application of Genetically Engineered Pigs in Biomedical Research.

Genes
M Hryhorowicz, D Lipiński, S Hryhorowicz, A Nowak-Terpiłowska, N Ryczek, J Zeyland
Publication Date: 2020-06-19

Variant appearance in text: APP: V717I
PubMed Link: 32575461
Variant Present in the following documents:
  • Main text
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In vitro Models of Neurodegenerative Diseases.

Frontiers In Cell And Developmental Biology
A Slanzi, G Iannoto, B Rossi, E Zenaro, G Constantin
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32528949
Variant Present in the following documents:
  • Main text
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Secondary Metabolites from Plants Possessing Inhibitory Properties against Beta-Amyloid Aggregation as Revealed by Thioflavin-T Assay and Correlations with Investigations on Transgenic Mouse Models of Alzheimer's Disease.

Biomolecules
R Stefanescu, GD Stanciu, A Luca, L Paduraru, BI Tamba
Publication Date: 2020-06-06

Variant appearance in text: APP: V717I
PubMed Link: 32517180
Variant Present in the following documents:
  • Main text
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Young blood plasma reduces Alzheimer's disease-like brain pathologies and ameliorates cognitive impairment in 3×Tg-AD mice.

Alzheimer'S Research & Therapy
Y Zhao, R Qian, J Zhang, F Liu, K Iqbal, CL Dai, CX Gong
Publication Date: 2020-06-08

Variant appearance in text: APP: V717I
PubMed Link: 32513253
Variant Present in the following documents:
  • Main text
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Omega-3 Fatty Acid-Type Docosahexaenoic Acid Protects against Aβ-Mediated Mitochondrial Deficits and Pathomechanisms in Alzheimer's Disease-Related Animal Model.

International Journal Of Molecular Sciences
YH Park, SJ Shin, HS Kim, SB Hong, S Kim, Y Nam, JJ Kim, K Lim, JS Kim, JI Kim, SG Jeon, M Moon
Publication Date: 2020-05-29

Variant appearance in text: APP: V717I
PubMed Link: 32486013
Variant Present in the following documents:
  • Main text
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Neuroprotective and Anti-Inflammatory Effects of Low-Moderate Dose Ionizing Radiation in Models of Alzheimer's Disease.

International Journal Of Molecular Sciences
S Kim, Y Nam, C Kim, H Lee, S Hong, HS Kim, SJ Shin, YH Park, HN Mai, SM Oh, KS Kim, DH Yoo, WK Chung, H Chung, M Moon
Publication Date: 2020-05-23

Variant appearance in text: APP: V717I
PubMed Link: 32456197
Variant Present in the following documents:
  • Main text
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SPON1 Can Reduce Amyloid Beta and Reverse Cognitive Impairment and Memory Dysfunction in Alzheimer's Disease Mouse Model.

Cells
SY Park, JY Kang, T Lee, D Nam, CJ Jeon, JB Kim
Publication Date: 2020-05-21

Variant appearance in text: APP: V717I
PubMed Link: 32455709
Variant Present in the following documents:
  • Main text
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Verapamil and Alzheimer's Disease: Past, Present, and Future.

Frontiers In Pharmacology
N Popović, N Morales-Delgado, D Vidal Mena, A Alonso, M Pascual Martínez, M Caballero Bleda, M Popović
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32431612
Variant Present in the following documents:
  • Main text
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Evaluation of neurological effects of cerium dioxide nanoparticles doped with different amounts of zirconium following inhalation exposure in mouse models of Alzheimer's and vascular disease.

Neurochemistry International
T Wahle, A Sofranko, S Dekkers, MR Miller, HJ Heusinkveld, C Albrecht, FR Cassee, RPF Schins
Publication Date: 2020-09

Variant appearance in text: APP: V717I
PubMed Link: 32422323
Variant Present in the following documents:
  • Main text
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Understanding the Pathophysiology of Cerebral Amyloid Angiopathy.

International Journal Of Molecular Sciences
L Gatti, F Tinelli, E Scelzo, F Arioli, G Di Fede, L Obici, L Pantoni, G Giaccone, P Caroppo, EA Parati, A Bersano
Publication Date: 2020-05-13

Variant appearance in text: APP: V717I
PubMed Link: 32414028
Variant Present in the following documents:
  • Main text
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Fingolimod Affects Transcription of Genes Encoding Enzymes of Ceramide Metabolism in Animal Model of Alzheimer's Disease.

Molecular Neurobiology
H Jęśko, PL Wencel, S Wójtowicz, J Strosznajder, WJ Lukiw, RP Strosznajder
Publication Date: 2020-06

Variant appearance in text: APP: V717I
PubMed Link: 32356173
Variant Present in the following documents:
  • Main text
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New Insights into the Molecular Bases of Familial Alzheimer's Disease.

Journal Of Personalized Medicine
V D'Argenio, D Sarnataro
Publication Date: 2020-04-19

Variant appearance in text: APP: V717I
PubMed Link: 32325882
Variant Present in the following documents:
  • Main text
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Cathepsin B in neurodegeneration of Alzheimer's disease, traumatic brain injury, and related brain disorders.

Biochimica Et Biophysica Acta. Proteins And Proteomics
V Hook, M Yoon, C Mosier, G Ito, S Podvin, BP Head, R Rissman, AJ O'Donoghue, G Hook
Publication Date: 2020-08

Variant appearance in text: APP: V717I
PubMed Link: 32305689
Variant Present in the following documents:
  • Main text
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Oligomeric amyloid-β induces early and widespread changes to the proteome in human iPSC-derived neurons.

Scientific Reports
C Sackmann, M Hallbeck
Publication Date: 2020-04-16

Variant appearance in text: APP: V717I
PubMed Link: 32300132
Variant Present in the following documents:
  • Main text
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Are ketogenic diets promising for Alzheimer's disease? A translational review.

Alzheimer'S Research & Therapy
M Lilamand, B Porte, E Cognat, J Hugon, F Mouton-Liger, C Paquet
Publication Date: 2020-04-14

Variant appearance in text: APP: V717I
PubMed Link: 32290868
Variant Present in the following documents:
  • Main text
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If Human Brain Organoids Are the Answer to Understanding Dementia, What Are the Questions?

The Neuroscientist : A Review Journal Bringing Neurobiology, Neurology And Psychiatry
L Ooi, M Dottori, AL Cook, M Engel, V Gautam, A Grubman, D Hernández, AE King, S Maksour, H Targa Dias Anastacio, R Balez, A Pébay, C Pouton, M Valenzuela, A White, R Williamson
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32281909
Variant Present in the following documents:
  • Main text
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The rare and the common: scale and the genetic imaginary in Alzheimer's disease drug development.

New Genetics And Society
R Milne
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 32256202
Variant Present in the following documents:
  • Main text
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The Genetics of Alzheimer's Disease in the Chinese Population.

International Journal Of Molecular Sciences
CL Gan, T Zhang, TH Lee
Publication Date: 2020-03-30

Variant appearance in text: APP: V717I
PubMed Link: 32235595
Variant Present in the following documents:
  • Main text
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Amyloid-β42/40 ratio drives tau pathology in 3D human neural cell culture models of Alzheimer's disease.

Nature Communications
SS Kwak, KJ Washicosky, E Brand, D von Maydell, J Aronson, S Kim, DE Capen, M Cetinbas, R Sadreyev, S Ning, E Bylykbashi, W Xia, SL Wagner, SH Choi, RE Tanzi, DY Kim
Publication Date: 2020-03-13

Variant appearance in text: APP: V717I
PubMed Link: 32170138
Variant Present in the following documents:
  • Main text
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Prominent amyloid plaque pathology and cerebral amyloid angiopathy in APP V717I (London) carrier - phenotypic variability in autosomal dominant Alzheimer's disease.

Acta Neuropathologica Communications
GM Lloyd, JA Trejo-Lopez, Y Xia, KN McFarland, SJ Lincoln, N Ertekin-Taner, BI Giasson, AT Yachnis, S Prokop
Publication Date: 2020-03-12

Variant appearance in text: APP: Val717Ile
PubMed Link: 32164763
Variant Present in the following documents:
  • Main text
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Contributions of DNA Damage to Alzheimer's Disease.

International Journal Of Molecular Sciences
X Lin, A Kapoor, Y Gu, MJ Chow, J Peng, K Zhao, D Tang
Publication Date: 2020-02-28

Variant appearance in text: APP: V717I
PubMed Link: 32121304
Variant Present in the following documents:
  • Main text
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Antifibrotic Effects of Amyloid-Beta and Its Loss in Cirrhotic Liver.

Cells
GH Buniatian, R Weiskirchen, TS Weiss, U Schwinghammer, M Fritz, T Seferyan, B Proksch, M Glaser, A Lourhmati, M Buadze, E Borkham-Kamphorst, F Gaunitz, CH Gleiter, T Lang, E Schaeffeler, R Tremmel, H Cynis, WH Frey, R Gebhardt, SL Friedman, W Mikulits, M Schwab, L Danielyan
Publication Date: 2020-02-17

Variant appearance in text: APP: V717I
PubMed Link: 32089540
Variant Present in the following documents:
  • Main text
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Systemic microbial TLR2 agonists induce neurodegeneration in Alzheimer's disease mice.

Journal Of Neuroinflammation
N Lax, N Fainstein, Y Nishri, A Ben-Zvi, T Ben-Hur
Publication Date: 2020-02-14

Variant appearance in text: APP: V717I
PubMed Link: 32059733
Variant Present in the following documents:
  • Main text
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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
Y Peng, P Gao, L Shi, L Chen, J Liu, J Long
Publication Date: 2020-06-01

Variant appearance in text: APP: V717I
PubMed Link: 32050773
Variant Present in the following documents:
  • Main text
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Caspase-6 Knockout in the 5xFAD Model of Alzheimer's Disease Reveals Favorable Outcome on Memory and Neurological Hallmarks.

International Journal Of Molecular Sciences
A Angel, R Volkman, TG Royal, D Offen
Publication Date: 2020-02-09

Variant appearance in text: APP: V717I
PubMed Link: 32050445
Variant Present in the following documents:
  • Main text
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Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations.

Neurobiology Of Disease
AA Pimenova, AM Goate
Publication Date: 2020-05

Variant appearance in text: APP: V717I
PubMed Link: 32032730
Variant Present in the following documents:
  • Main text
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Beta secretase 1-dependent amyloid precursor protein processing promotes excessive vascular sprouting through NOTCH3 signalling.

Cell Death & Disease
CS Durrant, K Ruscher, O Sheppard, MP Coleman, I Özen
Publication Date: 2020-02-06

Variant appearance in text: APP: V717I
PubMed Link: 32029735
Variant Present in the following documents:
  • Main text
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Effects of neural stem cell transplantation in Alzheimer's disease models.

Journal Of Biomedical Science
Y Hayashi, HT Lin, CC Lee, KJ Tsai
Publication Date: 2020-01-27

Variant appearance in text: APP: V717I
PubMed Link: 31987051
Variant Present in the following documents:
  • Main text
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YAP-dependent necrosis occurs in early stages of Alzheimer's disease and regulates mouse model pathology.

Nature Communications
H Tanaka, H Homma, K Fujita, K Kondo, S Yamada, X Jin, M Waragai, G Ohtomo, A Iwata, K Tagawa, N Atsuta, M Katsuno, N Tomita, K Furukawa, Y Saito, T Saito, A Ichise, S Shibata, H Arai, T Saido, M Sudol, SI Muramatsu, H Okano, EJ Mufson, G Sobue, S Murayama, H Okazawa
Publication Date: 2020-01-24

Variant appearance in text: APP: V717I
PubMed Link: 31980612
Variant Present in the following documents:
  • Main text
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Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.

Alzheimer'S Research & Therapy
M Quan, T Zhao, Y Tang, P Luo, W Wang, Q Qin, T Li, Q Wang, J Fang, J Jia
Publication Date: 2020-01-14

Variant appearance in text: APP: V717I
PubMed Link: 31937364
Variant Present in the following documents:
  • Main text
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β-Lactolin, a Whey-Derived Lacto-Tetrapeptide, Prevents Alzheimer's Disease Pathologies and Cognitive Decline.

Journal Of Alzheimer'S Disease : Jad
Y Ano, R Ohya, Y Takaichi, T Washinuma, K Uchida, A Takashima, H Nakayama
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 31929163
Variant Present in the following documents:
  • Main text
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VGF-derived peptide TLQP-21 modulates microglial function through C3aR1 signaling pathways and reduces neuropathology in 5xFAD mice.

Molecular Neurodegeneration
F El Gaamouch, M Audrain, WJ Lin, N Beckmann, C Jiang, S Hariharan, PS Heeger, EE Schadt, S Gandy, ME Ehrlich, SR Salton
Publication Date: 2020-01-10

Variant appearance in text: APP: V717I
PubMed Link: 31924226
Variant Present in the following documents:
  • Main text
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Decay in Retinoic Acid Signaling in Varied Models of Alzheimer's Disease and In-Vitro Test of Novel Retinoic Acid Receptor Ligands (RAR-Ms) to Regulate Protective Genes.

Journal Of Alzheimer'S Disease : Jad
T Khatib, DR Chisholm, A Whiting, B Platt, P McCaffery
Publication Date: 2020

Variant appearance in text: APP: V717I
PubMed Link: 31884477
Variant Present in the following documents:
  • Main text
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Early Cognitive and Behavioral Deficits in Mouse Models for Tauopathy and Alzheimer's Disease.

Frontiers In Aging Neuroscience
C Samaey, A Schreurs, S Stroobants, D Balschun
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31866856
Variant Present in the following documents:
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A small molecule transcription factor EB activator ameliorates beta-amyloid precursor protein and Tau pathology in Alzheimer's disease models.

Aging Cell
JX Song, S Malampati, Y Zeng, SSK Durairajan, CB Yang, BC Tong, A Iyaswamy, WB Shang, SG Sreenivasmurthy, Z Zhu, KH Cheung, JH Lu, C Tang, N Xu, M Li
Publication Date: 2020-02

Variant appearance in text: APP: V717I
PubMed Link: 31858697
Variant Present in the following documents:
  • Main text
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Electroacupuncture attenuates cognition impairment via anti-neuroinflammation in an Alzheimer's disease animal model.

Journal Of Neuroinflammation
M Cai, JH Lee, EJ Yang
Publication Date: 2019-12-13

Variant appearance in text: APP: V717I
PubMed Link: 31836020
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  • Main text
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From EST to structure models for functional inference of APP, BACE1, PSEN1, PSEN2 genes.

Bioinformation
M Aathi, S Piramanayagam
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31831959
Variant Present in the following documents:
  • 97320630015760.pdf
  • aaaaaMain text
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Bazhu Decoction, a Traditional Chinese Medical Formula, Ameliorates Cognitive Deficits in the 5xFAD Mouse Model of Alzheimer's Disease.

Frontiers In Pharmacology
A Peng, Y Gao, X Zhuang, Y Lin, W He, Y Wang, W Chen, T Chen, X Huang, R Yang, Y Huang, S Xi, X Zhang
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31827437
Variant Present in the following documents:
  • Main text
  • fphar-10-01391.pdf
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Cerebral amyloid angiopathy and Alzheimer disease - one peptide, two pathways.

Nature Reviews. Neurology
SM Greenberg, BJ Bacskai, M Hernandez-Guillamon, J Pruzin, R Sperling, SJ van Veluw
Publication Date: 2020-01

Variant appearance in text: APP: Val717Ile
PubMed Link: 31827267
Variant Present in the following documents:
  • Main text
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MouseBytes, an open-access high-throughput pipeline and database for rodent touchscreen-based cognitive assessment.

Elife
FH Beraldo, D Palmer, S Memar, DI Wasserman, WV Lee, S Liang, SD Creighton, B Kolisnyk, MF Cowan, J Mels, TS Masood, C Fodor, MA Al-Onaizi, R Bartha, T Gee, LM Saksida, TJ Bussey, SS Strother, VF Prado, BD Winters, MA Prado
Publication Date: 2019-12-11

Variant appearance in text: APP: V717I
PubMed Link: 31825307
Variant Present in the following documents:
  • Main text
  • elife-49630.pdf
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C5aR agonist enhances phagocytosis of fibrillar and non-fibrillar Aβ amyloid and preserves memory in a mouse model of familial Alzheimer's disease.

Plos One
E Panayiotou, E Fella, S Andreou, R Papacharalambous, P Gerasimou, P Costeas, S Angeli, I Kousiappa, S Papacostas, T Kyriakides
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31809505
Variant Present in the following documents:
  • Main text
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Deep proteome profiling of the hippocampus in the 5XFAD mouse model reveals biological process alterations and a novel biomarker of Alzheimer's disease.

Experimental & Molecular Medicine
DK Kim, D Han, J Park, H Choi, JC Park, MY Cha, J Woo, MS Byun, DY Lee, Y Kim, I Mook-Jung
Publication Date: 2019-11-15

Variant appearance in text: APP: V717I
PubMed Link: 31727875
Variant Present in the following documents:
  • 12276_2019_Article_326.pdf
  • aaaaaMain text
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Calcilytic NPS 2143 Reduces Amyloid Secretion and Increases sAβPPα Release from PSEN1 Mutant iPSC-Derived Neurons.

Journal Of Alzheimer'S Disease : Jad
M Lo Giudice, B Mihalik, Z Turi, A Dinnyés, J Kobolák
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31640098
Variant Present in the following documents:
  • jad-72-jad190602.pdf
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Astroglia in Alzheimer's Disease.

Advances In Experimental Medicine And Biology
A Verkhratsky, V Parpura, JJ Rodriguez-Arellano, R Zorec
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31583592
Variant Present in the following documents:
  • Main text
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APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

International Journal Of Molecular Sciences
VV Giau, E Bagyinszky, YC Youn, SSA An, S Kim
Publication Date: 2019-09-25

Variant appearance in text: APP: Val717Ile
PubMed Link: 31557888
Variant Present in the following documents:
  • Main text
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Risk Factors for Alzheimer's Disease: Focus on Stress.

Frontiers In Pharmacology
A Caruso, F Nicoletti, A Gaetano, S Scaccianoce
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31551781
Variant Present in the following documents:
  • Main text
  • fphar-10-00976.pdf
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Fragmented mitochondria released from microglia trigger A1 astrocytic response and propagate inflammatory neurodegeneration.

Nature Neuroscience
AU Joshi, PS Minhas, SA Liddelow, B Haileselassie, KI Andreasson, GW Dorn, D Mochly-Rosen
Publication Date: 2019-10

Variant appearance in text: APP: V717I
PubMed Link: 31551592
Variant Present in the following documents:
  • Main text
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Distinct disease-sensitive GABAergic neurons in the perirhinal cortex of Alzheimer's mice and patients.

Brain Pathology (Zurich, Switzerland)
E Sanchez-Mejias, C Nuñez-Diaz, R Sanchez-Varo, A Gomez-Arboledas, JA Garcia-Leon, JJ Fernandez-Valenzuela, M Mejias-Ortega, L Trujillo-Estrada, D Baglietto-Vargas, I Moreno-Gonzalez, JC Davila, J Vitorica, A Gutierrez
Publication Date: 2020-03

Variant appearance in text: APP: V717I
PubMed Link: 31491047
Variant Present in the following documents:
  • Main text
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Transthyretin expression in the postischemic brain.

Plos One
D Talhada, I Gonçalves, JC Gomes, MJ Saraiva, C Reis Santos, K Ruscher
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31479465
Variant Present in the following documents:
  • Main text
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Topographical Visualization of the Reciprocal Projection between the Medial Septum and the Hippocampus in the 5XFAD Mouse Model of Alzheimer's Disease.

International Journal Of Molecular Sciences
S Kim, Y Nam, YO Jeong, HH Park, SK Lee, SJ Shin, H Jung, BH Kim, SB Hong, YH Park, J Kim, J Yu, DH Yoo, SH Park, SG Jeon, M Moon
Publication Date: 2019-08-16

Variant appearance in text: APP: V717I
PubMed Link: 31426329
Variant Present in the following documents:
  • Main text
  • ijms-20-03992.pdf
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Cell-autonomous and non-cell autonomous effects of neuronal BIN1 loss in vivo.

Plos One
KM McAvoy, H Rajamohamed Sait, G Marsh, M Peterson, TL Reynolds, J Gagnon, S Geisler, P Leach, C Roberts, E Cahir-McFarland, RM Ransohoff, A Crotti
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31408457
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  • Main text
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Ketogenic Diet in Alzheimer's Disease.

International Journal Of Molecular Sciences
M Rusek, R Pluta, M Ułamek-Kozioł, SJ Czuczwar
Publication Date: 2019-08-09

Variant appearance in text: APP: V717I
PubMed Link: 31405021
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  • Main text
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Modeling Alzheimer's disease with iPSC-derived brain cells.

Molecular Psychiatry
J Penney, WT Ralvenius, LH Tsai
Publication Date: 2020-01

Variant appearance in text: APP: V717I
PubMed Link: 31391546
Variant Present in the following documents:
  • Main text
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Targeting Synaptic Plasticity in Experimental Models of Alzheimer's Disease.

Frontiers In Pharmacology
D Mango, A Saidi, GY Cisale, M Feligioni, M Corbo, R Nisticò
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31379566
Variant Present in the following documents:
  • Main text
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Photobiomodulation for Alzheimer's Disease: Has the Light Dawned?

Photonics
MR Hamblin
Publication Date: 2019-09

Variant appearance in text: APP: V717I
PubMed Link: 31363464
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  • Main text
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Acute restraint stress reverses impaired LTP in the hippocampal CA1 region in mouse models of Alzheimer's disease.

Scientific Reports
M Wang, VS Ramasamy, M Samidurai, J Jo
Publication Date: 2019-07-29

Variant appearance in text: APP: V717I
PubMed Link: 31358853
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  • Main text
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Dual dose-dependent effects of fingolimod in a mouse model of Alzheimer's disease.

Scientific Reports
I Carreras, N Aytan, JK Choi, CM Tognoni, NW Kowall, BG Jenkins, A Dedeoglu
Publication Date: 2019-07-29

Variant appearance in text: APP: V717I
PubMed Link: 31358793
Variant Present in the following documents:
  • Main text
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5xFAD Mice Display Sex-Dependent Inflammatory Gene Induction During the Prodromal Stage of Alzheimer's Disease.

Journal Of Alzheimer'S Disease : Jad
Z Manji, A Rojas, W Wang, R Dingledine, NH Varvel, T Ganesh
Publication Date: 2019

Variant appearance in text: APP: V717I
PubMed Link: 31322556
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  • Main text
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Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications
JS Park, J Lee, ES Jung, MH Kim, IB Kim, H Son, S Kim, S Kim, YM Park, I Mook-Jung, SJ Yu, JH Lee
Publication Date: 2019-07-12

Variant appearance in text: APP: V717I
PubMed Link: 31300647
Variant Present in the following documents:
  • 41467_2019_11000_MOESM14_ESM.xlsx
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Malva parviflora extract ameliorates the deleterious effects of a high fat diet on the cognitive deficit in a mouse model of Alzheimer's disease by restoring microglial function via a PPAR-γ-dependent mechanism.

Journal Of Neuroinflammation
E Medrano-Jiménez, I Jiménez-Ferrer Carrillo, M Pedraza-Escalona, CE Ramírez-Serrano, L Álvarez-Arellano, J Cortés-Mendoza, M Herrera-Ruiz, E Jiménez-Ferrer, A Zamilpa, J Tortoriello, G Pedraza-Alva, L Pérez-Martínez
Publication Date: 2019-07-10

Variant appearance in text: APP: V717I
PubMed Link: 31291963
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  • Main text
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Long-Term Pantethine Treatment Counteracts Pathologic Gene Dysregulation and Decreases Alzheimer's Disease Pathogenesis in a Transgenic Mouse Model.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics
K Baranger, M van Gijsel-Bonnello, D Stephan, W Carpentier, S Rivera, M Khrestchatisky, B Gharib, M De Reggi, P Benech
Publication Date: 2019-10

Variant appearance in text: APP: V717I
PubMed Link: 31267473
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  • Main text
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Preventive Effects of Tryptophan-Methionine Dipeptide on Neural Inflammation and Alzheimer's Pathology.

International Journal Of Molecular Sciences
Y Ano, Y Yoshino, K Uchida, H Nakayama
Publication Date: 2019-06-29

Variant appearance in text: APP: V717I
PubMed Link: 31261895
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  • Main text
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Endothelin type B receptor promotes cofilin rod formation and dendritic loss in neurons by inducing oxidative stress and cofilin activation.

The Journal Of Biological Chemistry
SW Tam, R Feng, WK Lau, AC Law, PK Yeung, SK Chung
Publication Date: 2019-08-16

Variant appearance in text: APP: V717I
PubMed Link: 31248984
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  • Main text
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Red Ginseng Attenuates Aβ-Induced Mitochondrial Dysfunction and Aβ-mediated Pathology in an Animal Model of Alzheimer's Disease.

International Journal Of Molecular Sciences
SJ Shin, SG Jeon, JI Kim, YO Jeong, S Kim, YH Park, SK Lee, HH Park, SB Hong, S Oh, JY Hwang, HS Kim, H Park, Y Nam, YY Lee, JJ Kim, SH Park, JS Kim, M Moon
Publication Date: 2019-06-21

Variant appearance in text: APP: V717I
PubMed Link: 31234321
Variant Present in the following documents:
  • ijms-20-03030.pdf
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000346798.3 c.2149G>A p.Val717Ile missense_variant 17/18 -
ENST00000348990.5 c.1924G>A p.Val642Ile missense_variant 15/16 -
ENST00000354192.3 c.1756G>A p.Val586Ile missense_variant 14/15 -
ENST00000357903.3 c.2092G>A p.Val698Ile missense_variant 16/17 -
ENST00000358918.3 c.2095G>A p.Val699Ile missense_variant 16/17 -
ENST00000359726.3 c.1981G>A p.Val661Ile missense_variant 16/17 -
ENST00000439274.2 c.1981G>A p.Val661Ile missense_variant 16/17 -
ENST00000440126.3 c.2077G>A p.Val693Ile missense_variant 16/17 -
ENST00000448388.2 c.1819G>A p.Val607Ile missense_variant 15/16 -
ENST00000464867.1 n.496G>A - non_coding_transcript_exon_variant 2/3 -
NM_000484.4 c.2149G>A p.Val717Ile missense_variant 17/18 -
NM_001136016.3 c.2077G>A p.Val693Ile missense_variant 16/17 -
NM_001136129.3 c.1756G>A p.Val586Ile missense_variant 14/15 -
NM_001136130.3 c.1981G>A p.Val661Ile missense_variant 16/17 -
NM_001136131.2 c.1819G>A p.Val607Ile missense_variant 15/16 -
NM_001204301.2 c.2095G>A p.Val699Ile missense_variant 16/17 -
NM_001204302.2 c.2038G>A p.Val680Ile missense_variant 15/16 -
NM_001204303.2 c.1870G>A p.Val624Ile missense_variant 14/15 -
NM_201413.3 c.2092G>A p.Val698Ile missense_variant 16/17 -
NM_201414.3 c.1924G>A p.Val642Ile missense_variant 15/16 -