Publications:

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Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget

Joshi, Asim A; Mishra, Rohit R; Desai, Sanket S; Chandrani, Pratik P; Kore, Hitesh H; Sunder, Roma R; Hait, Supriya S; Iyer, Prajish P; Trivedi, Vaishakhi V; Choughule, Anuradha A; Noronha, Vanita V; Joshi, Amit A; Patil, Vijay V; Menon, Nandini N; Kumar, Rajiv R; Prabhash, Kumar K; Dutt, Amit A

Publication Date: 2021-03-16

Variant appearance in text: APP: E665D

PubMed Link: 33796225

Variant Present in the following documents:

• oncotarget-12-578-s005.xlsx, sheet 1

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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: E665D

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

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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: E665D

PubMed Link: 32050773

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: E665D

PubMed Link: 31011484

Variant Present in the following documents:

• Main text
• ad-10-2-383.pdf

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The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Blauwendraat, Cornelis C; Wilke, Carlo C; Simón-Sánchez, Javier J; Jansen, Iris E IE; Reifschneider, Anika A; Capell, Anja A; Haass, Christian C; Castillo-Lizardo, Melissa M; Biskup, Saskia S; Maetzler, Walter W; Rizzu, Patrizia P; Heutink, Peter P; Synofzik, Matthis M

Publication Date: 2018-02

Variant appearance in text: APP: E665D; rs63750363

PubMed Link: 28749476

Variant Present in the following documents:

• gim2017102x4.xlsx, sheet 2

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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: E665D

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: E665D

PubMed Link: 24669286

Variant Present in the following documents:

• Main text
• OMCL2014-375968.pdf

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