Publications:

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Structure of the core human NADPH oxidase NOX2.

Nature Communications

Noreng, Sigrid S; Ota, Naruhisa N; Sun, Yonglian Y; Ho, Hoangdung H; Johnson, Matthew M; Arthur, Christopher P CP; Schneider, Kellen K; Lehoux, Isabelle I; Davies, Christopher W CW; Mortara, Kyle K; Wong, Kit K; Seshasayee, Dhaya D; Masureel, Matthieu M; Payandeh, Jian J; Yi, Tangsheng T; Koerber, James T JT

Publication Date: 2022-10-14

Variant appearance in text: NOX2: Ala57Glu

PubMed Link: 36241643

Variant Present in the following documents:

• 41467_2022_33711_MOESM1_ESM.pdf

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Variant Type X91+ Chronic Granulomatous Disease: Clinical and Molecular Characterization in a Chinese Cohort.

Journal Of Clinical Immunology

Sun, Bijun B; Zhu, Zeyu Z; Hui, Xiaoying X; Sun, Jinqiao J; Wang, Wenjie W; Ying, Wenjing W; Zhou, Qinhua Q; Yao, Haili H; Hou, Jia J; Wang, Xiaochuan X

Publication Date: 2022-10

Variant appearance in text: CYBB: A57E

PubMed Link: 35796921

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1324.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CYBB: A57E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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Loss and gain of N-linked glycosylation sequons due to single-nucleotide variation in cancer.

Scientific Reports

Fan, Yu Y; Hu, Yu Y; Yan, Cheng C; Goldman, Radoslav R; Pan, Yang Y; Mazumder, Raja R; Dingerdissen, Hayley M HM

Publication Date: 2018-03-12

Variant appearance in text: CYBB: A57E

PubMed Link: 29531238

Variant Present in the following documents:

• 41598_2018_22345_MOESM3_ESM.xlsx, sheet 1

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Crystal structures and atomic model of NADPH oxidase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Magnani, Francesca F; Nenci, Simone S; Millana Fananas, Elisa E; Ceccon, Marta M; Romero, Elvira E; Fraaije, Marco W MW; Mattevi, Andrea A

Publication Date: 2017-06-27

Variant appearance in text: NOX2: Ala57Glu

PubMed Link: 28607049

Variant Present in the following documents:

• Main text

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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: CGD: A57E; rs151344481

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Genetic disorders coupled to ROS deficiency.

Redox Biology

O'Neill, Sharon S; Brault, Julie J; Stasia, Marie-Jose MJ; Knaus, Ulla G UG

Publication Date: 2015-12

Variant appearance in text: CGD: A57E

PubMed Link: 26210446

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CYBB: A57E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.

The Journal Of Biological Chemistry

Picciocchi, Antoine A; Debeurme, Franck F; Beaumel, Sylvain S; Dagher, Marie-Claire MC; Grunwald, Didier D; Jesaitis, Algirdas J AJ; Stasia, Marie-José MJ

Publication Date: 2011-08-12

Variant appearance in text: CGD: A57E

PubMed Link: 21659519

Variant Present in the following documents:

• Main text

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Hematologically important mutations: X-linked chronic granulomatous disease (third update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI

Publication Date: 2010-10-15

Variant appearance in text: CGD: 170C>A

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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