Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: NCF2: R395W

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs13306575

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 2

View BVdb publication page

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Genome-wide association study for systemic lupus erythematosus in an egyptian population.

Frontiers In Genetics

Elghzaly, Ashraf A AA; Sun, Celi C; Looger, Loren L LL; Hirose, Misa M; Salama, Mohamed M; Khalil, Noha M NM; Behiry, Mervat Essam ME; Hegazy, Mohamed Tharwat MT; Hussein, Mohamed Ahmed MA; Salem, Mohamad Nabil MN; Eltoraby, Ehab E; Tawhid, Ziyad Z; Alwasefy, Mona M; Allam, Walaa W; El-Shiekh, Iman I; Elserafy, Menattallah M; Abdelnaser, Anwar A; Hashish, Sara S; Shebl, Nourhan N; Shahba, Abeer Abdelmonem AA; Elgirby, Amira A; Hassab, Amina A; Refay, Khalida K; El-Touchy, Hanan Mohamed HM; Youssef, Ali A; Shabacy, Fatma F; Hashim, Abdelkader Ahmed AA; Abdelzaher, Asmaa A; Alshebini, Emad E; Fayez, Dalia D; El-Bakry, Samah A SA; Elzohri, Mona H MH; Abdelsalam, Eman Nagiub EN; El-Khamisy, Sherif F SF; Ibrahim, Saleh S; Ragab, Gaafar G; Nath, Swapan K SK

Publication Date: 2022

Variant appearance in text: rs13306575

PubMed Link: 36324510

Variant Present in the following documents:

• Main text
• fgene-13-948505.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.

Frontiers In Immunology

Chan, Koon-Wing KW; Wong, Chung-Yin CY; Leung, Daniel D; Yang, Xingtian X; Fok, Susanna F S SFS; Mak, Priscilla H S PHS; Yao, Lei L; Ma, Wen W; Mao, Huawei H; Zhao, Xiaodong X; Liang, Weiling W; Singh, Surjit S; Barbouche, Mohamed-Ridha MR; He, Jian-Xin JX; Jiang, Li-Ping LP; Liew, Woei-Kang WK; Le, Minh Huong Thi MHT; Muktiarti, Dina D; Santos-Ocampo, Fatima Johanna FJ; Djidjik, Reda R; Belaid, Brahim B; Ismail, Intan Hakimah IH; Abdul Latiff, Amir Hamzah AH; Lee, Way Seah WS; Chen, Tong-Xin TX; Liu, Jinrong J; Jin, Runming R; Wang, Xiaochuan X; Chien, Yin Hsiu YH; Yu, Hsin-Hui HH; Raj, Dinesh D; Raj, Revathi R; Vaughan, Jenifer J; Urban, Michael M; van den Berg, Sylvia S; Eley, Brian B; Lee, Anselm Chi-Wai AC; Isa, Mas Suhaila MS; Ang, Elizabeth Y EY; Lee, Bee Wah BW; Yeoh, Allen Eng Juh AEJ; Shek, Lynette P LP; Quynh Le, Nguyen Ngoc NN; Nguyen, Van Anh Thi VAT; Phan Nguyen Lien, Anh A; Capulong, Regina D RD; Mallillin, Joanne Michelle JM; Villanueva, Jose Carlo Miguel M JCMM; Camonayan, Karol Anne B KAB; Vera, Michelle De M; Casis-Hao, Roxanne J RJ; Lobo, Rommel Crisenio M RCM; Foronda, Ruby R; Binas, Vicky Wee Eng VWE; Boushaki, Soraya S; Kechout, Nadia N; Phongsamart, Gun G; Wongwaree, Siriporn S; Jiratchaya, Chamnanrua C; Lao-Araya, Mongkol M; Trakultivakorn, Muthita M; Suratannon, Narissara N; Jirapongsananuruk, Orathai O; Chantveerawong, Teerapol T; Kamchaisatian, Wasu W; Chan, Lee Lee LL; Koh, Mia Tuang MT; Wong, Ke Juin KJ; Fong, Siew Moy SM; Thong, Meow-Keong MK; Latiff, Zarina Abdul ZA; Noh, Lokman Mohd LM; de Silva, Rajiva R; Jouhadi, Zineb Z; Al-Saad, Khulood K; Vignesh, Pandiarajan P; Jindal, Ankur Kumar AK; Rawat, Amit A; Gupta, Anju A; Suri, Deepti D; Yang, Jing J; Au, Elaine Yuen-Ling EY; Kwok, Janette Siu-Yin JS; Chan, Siu-Yuen SY; Hui, Wayland Yuk-Fun WY; Chua, Gilbert T GT; Duque, Jaime Rosa JR; Cheong, Kai-Ning KN; Chong, Patrick Chun Yin PCY; Ho, Marco Hok Kung MHK; Lee, Tsz-Leung TL; Wong, Wilfred Hing-Sang WH; Yang, Wanling W; Lee, Pamela P PP; Tu, Wenwei W; Yang, Xi-Qiang XQ; Lau, Yu Lung YL

Publication Date: 2022

Variant appearance in text: NCF2: R395W

PubMed Link: 35874699

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Phenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.

Frontiers In Immunology

Chiu, Timothy Lok-Hin TL; Leung, Daniel D; Chan, Koon-Wing KW; Yeung, Hok Man HM; Wong, Chung-Yin CY; Mao, Huawei H; He, Jianxin J; Vignesh, Pandiarajan P; Liang, Weiling W; Liew, Woei Kang WK; Jiang, Li-Ping LP; Chen, Tong-Xin TX; Chen, Xiang-Yuan XY; Tao, Yin-Bo YB; Xu, Yong-Bin YB; Yu, Hsin-Hui HH; Terblanche, Alta A; Lung, David Christopher DC; Li, Cheng-Rong CR; Chen, Jing J; Tian, Man M; Eley, Brian B; Yang, Xingtian X; Yang, Jing J; Chiang, Wen Chin WC; Lee, Bee Wah BW; Suri, Deepti D; Rawat, Amit A; Gupta, Anju A; Singh, Surjit S; Wong, Wilfred Hing Sang WHS; Chua, Gilbert T GT; Duque, Jaime Sou Da Rosa JSDR; Cheong, Kai-Ning KN; Chong, Patrick Chun-Yin PC; Ho, Marco Hok-Kung MH; Lee, Tsz-Leung TL; Yang, Wanling W; Lee, Pamela P PP; Lau, Yu Lung YL

Publication Date: 2021

Variant appearance in text: NCF2: 1183C>T; Arg395Trp

PubMed Link: 35140711

Variant Present in the following documents:

• Main text
• fimmu-12-803763.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus.

Annals Of The Rheumatic Diseases

Yin, Xianyong X; Kim, Kwangwoo K; Suetsugu, Hiroyuki H; Bang, So-Young SY; Wen, Leilei L; Koido, Masaru M; Ha, Eunji E; Liu, Lu L; Sakamoto, Yuma Y; Jo, Sungsin S; Leng, Rui-Xue RX; Otomo, Nao N; Laurynenka, Viktoryia V; Kwon, Young-Chang YC; Sheng, Yujun Y; Sugano, Nobuhiko N; Hwang, Mi Yeong MY; Li, Weiran W; Mukai, Masaya M; Yoon, Kyungheon K; Cai, Minglong M; Ishigaki, Kazuyoshi K; Chung, Won Tae WT; Huang, He H; Takahashi, Daisuke D; Lee, Shin-Seok SS; Wang, Mengwei M; Karino, Kohei K; Shim, Seung-Cheol SC; Zheng, Xiaodong X; Miyamura, Tomoya T; Kang, Young Mo YM; Ye, Dongqing D; Nakamura, Junichi J; Suh, Chang-Hee CH; Tang, Yuanjia Y; Motomura, Goro G; Park, Yong-Beom YB; Ding, Huihua H; Kuroda, Takeshi T; Choe, Jung-Yoon JY; Li, Chengxu C; Niiro, Hiroaki H; Park, Youngho Y; Shen, Changbing C; Miyamoto, Takeshi T; Ahn, Ga-Young GY; Fei, Wenmin W; Takeuchi, Tsutomu T; Shin, Jung-Min JM; Li, Keke K; Kawaguchi, Yasushi Y; Lee, Yeon-Kyung YK; Wang, Yongfei Y; Amano, Koichi K; Park, Dae Jin DJ; Yang, Wanling W; Tada, Yoshifumi Y; Yamaji, Ken K; Shimizu, Masato M; Atsumi, Takashi T; Suzuki, Akari A; Sumida, Takayuki T; Okada, Yukinori Y; Matsuda, Koichi K; Matsuo, Keitaro K; Kochi, Yuta Y; , ; Kottyan, Leah C LC; Weirauch, Matthew T MT; Parameswaran, Sreeja S; Eswar, Shruti S; Salim, Hanan H; Chen, Xiaoting X; Yamamoto, Kazuhiko K; Harley, John B JB; Ohmura, Koichiro K; Kim, Tae-Hwan TH; Yang, Sen S; Yamamoto, Takuaki T; Kim, Bong-Jo BJ; Shen, Nan N; Ikegawa, Shiro S; Lee, Hye-Soon HS; Zhang, Xuejun X; Terao, Chikashi C; Cui, Yong Y; Bae, Sang-Cheol SC

Publication Date: 2021-05

Variant appearance in text: rs13306575

PubMed Link: 33272962

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of NCF2, NCF4, and CYBA Gene Polymorphisms with Rheumatoid Arthritis in a Chinese Population.

Journal Of Immunology Research

Zhang, Tian-Ping TP; Li, Rui R; Huang, Qian Q; Pan, Han-Feng HF; Ye, Dong-Qing DQ; Li, Xiao-Mei XM

Publication Date: 2020

Variant appearance in text: rs13306575

PubMed Link: 33145364

Variant Present in the following documents:

• Main text
• JIR2020-8528976.pdf

View BVdb publication page

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Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.

Arthritis Research & Therapy

Tangtanatakul, Pattarin P; Thumarat, Chisanu C; Satproedprai, Nusara N; Kunhapan, Punna P; Chaiyasung, Tassamonwan T; Klinchanhom, Siriwan S; Wang, Yong-Fei YF; Wei, Wei W; Wongshinsri, Jeerapat J; Chiewchengchol, Direkrit D; Rodsaward, Pongsawat P; Ngamjanyaporn, Pintip P; Suangtamai, Thanitta T; Mahasirimongkol, Surakameth S; Pisitkun, Prapaporn P; Hirankarn, Nattiya N

Publication Date: 2020-08-08

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 32771030

Variant Present in the following documents:

• Main text
• 13075_2020_Article_2276.pdf

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: NCF2: 1183C>T; Arg395Trp; rs13306575

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14

View BVdb publication page

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Allele specific chromatin signals, 3D interactions, and motif predictions for immune and B cell related diseases.

Scientific Reports

Cavalli, Marco M; Baltzer, Nicholas N; Umer, Husen M HM; Grau, Jan J; Lemnian, Ioana I; Pan, Gang G; Wallerman, Ola O; Spalinskas, Rapolas R; Sahlén, Pelin P; Grosse, Ivo I; Komorowski, Jan J; Wadelius, Claes C

Publication Date: 2019-02-25

Variant appearance in text: rs13306575

PubMed Link: 30804403

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39633.pdf

View BVdb publication page

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Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.

Gastroenterology

Denson, Lee A LA; Jurickova, Ingrid I; Karns, Rebekah R; Shaw, Kelly A KA; Cutler, David J DJ; Okou, David T DT; Dodd, Anne A; Quinn, Kathryn K; Mondal, Kajari K; Aronow, Bruce J BJ; Haberman, Yael Y; Linn, Aaron A; Price, Adam A; Bezold, Ramona R; Lake, Kathleen K; Jackson, Kimberly K; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen L SL; Dubinsky, Marla C MC; Leleiko, Neal S NS; Otley, Anthony R AR; Xavier, Ramnik J RJ; Stevens, Christine C; Daly, Mark J MJ; Zwick, Michael E ME; Kugathasan, Subra S

Publication Date: 2018-06

Variant appearance in text: NCF2: R395W

PubMed Link: 29454792

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.

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

Tarailo-Graovac, Maja M; Zhu, Jing Yun Alice JYA; Matthews, Allison A; van Karnebeek, Clara D M CDM; Wasserman, Wyeth W WW

Publication Date: 2017-12

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 28471432

Variant Present in the following documents:

• gim201750x2.xlsx, sheet 2

View BVdb publication page

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Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.

Annals Of The Rheumatic Diseases

Deng, Yun Y; Zhao, Jian J; Sakurai, Daisuke D; Sestak, Andrea L AL; Osadchiy, Vadim V; Langefeld, Carl D CD; Kaufman, Kenneth M KM; Kelly, Jennifer A JA; James, Judith A JA; Petri, Michelle A MA; Bae, Sang-Cheol SC; Alarcón-Riquelme, Marta E ME; Alarcón, Graciela S GS; Anaya, Juan-Manuel JM; Criswell, Lindsey A LA; Freedman, Barry I BI; Kamen, Diane L DL; Gilkeson, Gary S GS; Jacob, Chaim O CO; Merrill, Joan T JT; Gaffney, Patrick M PM; Sivils, Kathy Moser KM; Niewold, Timothy B TB; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Scofield, R Hal RH; Stevens, Anne M AM; Boackle, Susan A SA; Vilá, Luis M LM; Sohn, I I Woong II; Lee, Seung S; Chang, Deh-Ming DM; Song, Yeong Wook YW; Vyse, Timothy J TJ; Harley, John B JB; Brown, Elizabeth E EE; Edberg, Jeffrey C JC; Kimberly, Robert P RP; Cantor, Rita M RM; Hahn, Bevra H BH; Grossman, Jennifer M JM; Tsao, Betty P BP

Publication Date: 2016-11

Variant appearance in text: NCF2: R395W

PubMed Link: 26783109

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs13306575

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.

Arthritis & Rheumatology (Hoboken, N.J.)

Alarcón-Riquelme, Marta E ME; Ziegler, Julie T JT; Molineros, Julio J; Howard, Timothy D TD; Moreno-Estrada, Andrés A; Sánchez-Rodríguez, Elena E; Ainsworth, Hannah C HC; Ortiz-Tello, Patricia P; Comeau, Mary E ME; Rasmussen, Astrid A; Kelly, Jennifer A JA; Adler, Adam A; Acevedo-Vázquez, Eduardo M EM; Cucho-Venegas, Jorge Mariano JM; García-De la Torre, Ignacio I; Cardiel, Mario H MH; Miranda, Pedro P; Catoggio, Luis J LJ; Maradiaga-Ceceña, Marco M; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Criswell, Lindsey A LA; Tsao, Betty P BP; Sivils, Kathy L KL; Bae, Sang-Cheol SC; James, Judith A JA; Kimberly, Robert P RP; Kaufman, Kenneth M KM; Harley, John B JB; Esquivel-Valerio, Jorge A JA; Moctezuma, José F JF; García, Mercedes A MA; Berbotto, Guillermo A GA; Babini, Alejandra M AM; Scherbarth, Hugo H; Toloza, Sergio S; Baca, Vicente V; Nath, Swapan K SK; Aguilar Salinas, Carlos C; Orozco, Lorena L; Tusié-Luna, Teresa T; Zidovetzki, Raphael R; Pons-Estel, Bernardo A BA; Langefeld, Carl D CD; Jacob, Chaim O CO

Publication Date: 2016-04

Variant appearance in text: rs13306575

PubMed Link: 26606652

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: p67phox: R395W; rs13306575

PubMed Link: 26210446

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: NCF2: R395W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Systemic lupus erythematosus-associated neutrophil cytosolic factor 2 mutation affects the structure of NADPH oxidase complex.

The Journal Of Biological Chemistry

Armstrong, Don L DL; Eisenstein, Miriam M; Zidovetzki, Raphael R; Jacob, Chaim O CO

Publication Date: 2015-05-15

Variant appearance in text: rs13306575

PubMed Link: 25795782

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Plos One

Moens, Lotte N LN; Falk-Sörqvist, Elin E; Asplund, A Charlotta AC; Bernatowska, Ewa E; Smith, C I Edvard CI; Nilsson, Mats M

Publication Date: 2014

Variant appearance in text: NCF2: R395W

PubMed Link: 25502423

Variant Present in the following documents:

• Main text
• pone.0114901.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Evaluation of SLE Susceptibility Genes in Malaysians.

Autoimmune Diseases

Molineros, Julio E JE; Chua, Kek Heng KH; Sun, Celi C; Lian, Lay Hoong LH; Motghare, Prasenjeet P; Kim-Howard, Xana X; Nath, Swapan K SK

Publication Date: 2014

Variant appearance in text: rs13306575

PubMed Link: 24696779

Variant Present in the following documents:

• Main text
• AD2014-305436.pdf

View BVdb publication page

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Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.

Human Molecular Genetics

Kim-Howard, Xana X; Sun, Celi C; Molineros, Julio E JE; Maiti, Amit K AK; Chandru, Hema H; Adler, Adam A; Wiley, Graham B GB; Kaufman, Kenneth M KM; Kottyan, Leah L; Guthridge, Joel M JM; Rasmussen, Astrid A; Kelly, Jennifer J; Sánchez, Elena E; Raj, Prithvi P; Li, Quan-Zhen QZ; Bang, So-Young SY; Lee, Hye-Soon HS; Kim, Tae-Hwan TH; Kang, Young Mo YM; Suh, Chang-Hee CH; Chung, Won Tae WT; Park, Yong-Beom YB; Choe, Jung-Yoon JY; Shim, Seung Cheol SC; Lee, Shin-Seok SS; Han, Bok-Ghee BG; Olsen, Nancy J NJ; Karp, David R DR; Moser, Kathy K; Pons-Estel, Bernardo A BA; Wakeland, Edward K EK; James, Judith A JA; Harley, John B JB; Bae, Sang-Cheol SC; Gaffney, Patrick M PM; Alarcón-Riquelme, Marta M; , ; Looger, Loren L LL; Nath, Swapan K SK

Publication Date: 2014-03-15

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 24163247

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation

Rodriguez-Flores, Juan L JL; Fakhro, Khalid K; Hackett, Neil R NR; Salit, Jacqueline J; Fuller, Jennifer J; Agosto-Perez, Francisco F; Gharbiah, Maey M; Malek, Joel A JA; Zirie, Mahmoud M; Jayyousi, Amin A; Badii, Ramin R; Al-Nabet Al-Marri, Ajayeb A; Chouchane, Lotfi L; Stadler, Dora J DJ; Mezey, Jason G JG; Crystal, Ronald G RG

Publication Date: 2014-01

Variant appearance in text: NCF2: Arg395Trp; rs13306575

PubMed Link: 24123366

Variant Present in the following documents:

• Main text

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Evolutionary dynamics of the human NADPH oxidase genes CYBB, CYBA, NCF2, and NCF4: functional implications.

Molecular Biology And Evolution

Tarazona-Santos, Eduardo E; Machado, Moara M; Magalhães, Wagner C S WC; Chen, Renee R; Lyon, Fernanda F; Burdett, Laurie L; Crenshaw, Andrew A; Fabbri, Cristina C; Pereira, Latife L; Pinto, Laelia L; Redondo, Rodrigo A F RA; Sestanovich, Ben B; Yeager, Meredith M; Chanock, Stephen J SJ

Publication Date: 2013-09

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 23821607

Variant Present in the following documents:

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Animal models of human granulocyte diseases.

Hematology/Oncology Clinics Of North America

Schäffer, Alejandro A AA; Klein, Christoph C

Publication Date: 2013-02

Variant appearance in text: NCF2: R395W

PubMed Link: 23351993

Variant Present in the following documents:

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Lupus-associated causal mutation in neutrophil cytosolic factor 2 (NCF2) brings unique insights to the structure and function of NADPH oxidase.

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

Jacob, Chaim O CO; Eisenstein, Miriam M; Dinauer, Mary C MC; Ming, Wenyu W; Liu, Qiang Q; John, Sutha S; Quismorio, Francesco P FP; Reiff, Andreas A; Myones, Barry L BL; Kaufman, Kenneth M KM; McCurdy, Deborah D; Harley, John B JB; Silverman, Earl E; Kimberly, Robert P RP; Vyse, Timothy J TJ; Gaffney, Patrick M PM; Moser, Kathy L KL; Klein-Gitelman, Marisa M; Wagner-Weiner, Linda L; Langefeld, Carl D CD; Armstrong, Don L DL; Zidovetzki, Raphael R

Publication Date: 2012-01-10

Variant appearance in text: NCF2: R395W

PubMed Link: 22203994

Variant Present in the following documents:

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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Blood Cells, Molecules & Diseases

Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Bustamante, Jacinta J; Kannengiesser, Caroline C; de Boer, Martin M; van Leeuwen, Karin K; Köker, M Yavuz MY; Wolach, Baruch B; Roesler, Joachim J; Malech, Harry L HL; Holland, Steven M SM; Gallin, John I JI; Stasia, Marie-José MJ

Publication Date: 2010-04-15

Variant appearance in text: NCF2: 1183C>T; Arg395Trp; rs13306575

PubMed Link: 20167518

Variant Present in the following documents:

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A case-control study of rheumatoid arthritis identifies an associated single nucleotide polymorphism in the NCF4 gene, supporting a role for the NADPH-oxidase complex in autoimmunity.

Arthritis Research & Therapy

Olsson, Lina M LM; Lindqvist, Anna-Karin AK; Källberg, Henrik H; Padyukov, Leonid L; Burkhardt, Harald H; Alfredsson, Lars L; Klareskog, Lars L; Holmdahl, Rikard R

Publication Date: 2007

Variant appearance in text: rs13306575

PubMed Link: 17897462

Variant Present in the following documents:

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Genetic polymorphisms and susceptibility to lung disease.

Journal Of Negative Results In Biomedicine

Lee, Pauline L PL; West, Carol C; Crain, Karen K; Wang, Lei L

Publication Date: 2006-04-11

Variant appearance in text: NCF2: R395W; rs13306575

PubMed Link: 16608528

Variant Present in the following documents:

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