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: Ile325Phe

PubMed Link: 36241643

Variant Present in the following documents:

• 41467_2022_33711_MOESM1_ESM.pdf

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Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.

Scientific Reports

Rawat, Amit A; Sharma, Madhubala M; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Suri, Deepti D; Das, Jhumki J; Joshi, Vibhu V; Tyagi, Rahul R; Sharma, Jyoti J; Kaur, Gurjit G; Lau, Yu-Lung YL; Imai, Kohsuke K; Nonoyama, Shigeaki S; Lenardo, Michael M; Singh, Surjit S

Publication Date: 2022-06-21

Variant appearance in text: CYBB: Ile325Phe

PubMed Link: 35729272

Variant Present in the following documents:

• Main text
• 41598_2022_Article_14522.pdf

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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: Ile325Phe

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: I325F; rs151344468

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: I325F

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: I325F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: 973A>T

PubMed Link: 20729109

Variant Present in the following documents:

• Main text

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