Publications:

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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: CGD: Pro415His

PubMed Link: 35796921

Variant Present in the following documents:

• Main text
• 10875_2022_Article_1324.pdf

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Treating primary immunodeficiencies with defects in NK cells: from stem cell therapy to gene editing.

Stem Cell Research & Therapy

Eguizabal, C C; Herrera, L L; Inglés-Ferrándiz, M M; Izpisua Belmonte, J C JC

Publication Date: 2020-10-27

Variant appearance in text: CYBB: P415H

PubMed Link: 33109263

Variant Present in the following documents:

• Main text
• 13287_2020_Article_1964.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CYBB: P415H

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: Pro415His

PubMed Link: 28607049

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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: P415H

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: P415H

PubMed Link: 26210446

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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: P415H

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: 1244C>A

PubMed Link: 20729109

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Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly.

The Journal Of Biological Chemistry

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

Publication Date: 2010-10-22

Variant appearance in text: CGD: P415H

PubMed Link: 20724480

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Mutational analysis reveals distinct features of the Nox4-p22 phox complex.

The Journal Of Biological Chemistry

von Löhneysen, Katharina K; Noack, Deborah D; Jesaitis, Algirdas J AJ; Dinauer, Mary C MC; Knaus, Ulla G UG

Publication Date: 2008-12-12

Variant appearance in text: CGD: P415H

PubMed Link: 18849343

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