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: IFNAR1: V168L

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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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: IFNAR1: 502G>C; Val168Leu

PubMed Link: 36652909

Variant Present in the following documents:

• mmc8.xlsx, sheet 31
• mmc3.xlsx, sheet 32

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2257167

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2257167

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: IFNAR1: 502G>C; Val168Leu

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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: IFNAR1: V168L; rs2257167

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: IFNAR1: V168L

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Type I Interferon and the Spectrum of Susceptibility to Viral Infection and Autoimmune Disease: A Shared Genomic Signature.

Frontiers In Immunology

Sugrue, Jamie A JA; Bourke, Nollaig M NM; O'Farrelly, Cliona C

Publication Date: 2021

Variant appearance in text: rs2257167

PubMed Link: 34917078

Variant Present in the following documents:

• Main text
• fimmu-12-757249.pdf

View BVdb publication page

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Congenital Zika Syndrome Is Associated With Interferon Alfa Receptor 1.

Frontiers In Immunology

Azamor, Tamiris T; Cunha, Daniela Prado DP; da Silva, Andréa Marques Vieira AMV; Bezerra, Ohanna Cavalcanti de Lima OCL; Ribeiro-Alves, Marcelo M; Calvo, Thyago Leal TL; Kehdy, Fernanda de Souza Gomes FSG; Manta, Fernanda Saloum de Neves FSN; Pinto, Thiago Gomes de Toledo TGT; Ferreira, Laís Pereira LP; Portari, Elyzabeth Avvad EA; Guida, Letícia da Cunha LDC; Gomes, Leonardo L; Moreira, Maria Elisabeth Lopes MEL; de Carvalho, Elizeu Fagundes EF; Cardoso, Cynthia Chester CC; Muller, Marcelo M; Ano Bom, Ana Paula Dinis APD; Neves, Patrícia Cristina da Costa PCDC; Vasconcelos, Zilton Z; Moraes, Milton Ozório MO

Publication Date: 2021

Variant appearance in text: rs2257167

PubMed Link: 34899713

Variant Present in the following documents:

• Main text

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: IFNAR1: 502G>C; V168L; rs2257167

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic variability in COVID-19-related genes in the Brazilian population.

Human Genome Variation

Secolin, Rodrigo R; de Araujo, Tânia K TK; Gonsales, Marina C MC; Rocha, Cristiane S CS; Naslavsky, Michel M; Marco, Luiz De L; Bicalho, Maria A C MAC; Vazquez, Vinicius L VL; Zatz, Mayana M; Silva, Wilson A WA; Lopes-Cendes, Iscia I

Publication Date: 2021

Variant appearance in text: IFNAR1: 502G>C; V168L; rs2257167

PubMed Link: 33824725

Variant Present in the following documents:

• 41439_2021_146_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2257167

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: IFNAR1: 502G>C; Val168Leu

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 3
• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 1
• Supplementary_Data2.xlsx, sheet 2

View BVdb publication page

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Epistatic effect of TLR3 and cGAS-STING-IKKε-TBK1-IFN signaling variants on colorectal cancer risk.

Cancer Medicine

Catalano, Calogerina C; da Silva Filho, Miguel Inacio MI; Frank, Christoph C; Lu, Shun S; Jiraskova, Katerina K; Vymetalkova, Veronika V; Levy, Miroslav M; Liska, Vaclav V; Vycital, Ondrej O; Naccarati, Alessio A; Vodickova, Ludmila L; Hemminki, Kari K; Vodicka, Pavel P; Weber, Alexander N R ANR; Försti, Asta A

Publication Date: 2020-02

Variant appearance in text: rs2257167

PubMed Link: 31869529

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: IFNAR1: V168L

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Microbiota-derived acetate protects against respiratory syncytial virus infection through a GPR43-type 1 interferon response.

Nature Communications

Antunes, Krist Helen KH; Fachi, José Luís JL; de Paula, Rosemeire R; da Silva, Emanuelle Fraga EF; Pral, Laís Passariello LP; Dos Santos, Adara Áurea AÁ; Dias, Greicy Brisa Malaquias GBM; Vargas, José Eduardo JE; Puga, Renato R; Mayer, Fabiana Quoos FQ; Maito, Fábio F; Zárate-Bladés, Carlos R CR; Ajami, Nadim J NJ; Sant'Ana, Marcella Ramos MR; Candreva, Thamiris T; Rodrigues, Hosana Gomes HG; Schmiele, Marcio M; Silva Clerici, Maria Teresa Pedrosa MTP; Proença-Modena, José Luiz JL; Vieira, Angélica Thomas AT; Mackay, Charles R CR; Mansur, Daniel D; Caballero, Mauricio T MT; Marzec, Jacqui J; Li, Jianying J; Wang, Xuting X; Bell, Douglas D; Polack, Fernando P FP; Kleeberger, Steven R SR; Stein, Renato T RT; Vinolo, Marco Aurélio Ramirez MAR; de Souza, Ana Paula Duarte APD

Publication Date: 2019-07-22

Variant appearance in text: IFNAR: Val168Leu; rs2257167

PubMed Link: 31332169

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11152.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: IFNAR1: 502G>C; Val168Leu; rs2257167

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: IFNAR1: 502G>C; Val168Leu; rs2257167

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Type I Interferon Receptor Variants in Gene Regulatory Regions are Associated with Susceptibility to Cerebral Malaria in Malawi.

The American Journal Of Tropical Medicine And Hygiene

Feintuch, Catherine Manix CM; Tare, Archana A; Cusumano, Lucas R LR; Benayoun, Jacqueline J; Ryu, Seungjin S; Sixpence, Alick A; Seydel, Karl K; Laufer, Miriam M; Taylor, Terrie T; Suh, Yousin Y; Daily, Johanna P JP

Publication Date: 2018-06

Variant appearance in text: rs2257167

PubMed Link: 29637882

Variant Present in the following documents:

• Main text

View BVdb publication page

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A proline deletion in IFNAR1 impairs IFN-signaling and underlies increased resistance to tuberculosis in humans.

Nature Communications

Zhang, Guoliang G; deWeerd, Nicole A NA; Stifter, Sebastian A SA; Liu, Lei L; Zhou, Boping B; Wang, Wenfei W; Zhou, Yiping Y; Ying, Binwu B; Hu, Xuejiao X; Matthews, Antony Y AY; Ellis, Magda M; Triccas, James A JA; Hertzog, Paul J PJ; Britton, Warwick J WJ; Chen, Xinchun X; Feng, Carl G CG

Publication Date: 2018-01-08

Variant appearance in text: rs2257167

PubMed Link: 29311663

Variant Present in the following documents:

• Main text
• 41467_2017_2611_MOESM2_ESM.pdf
• 41467_2017_Article_2611.pdf

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4
• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2257167

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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EWSR1/ELF5 induces acute myeloid leukemia by inhibiting p53/p21 pathway.

Cancer Science

Endo, Akifumi A; Tomizawa, Daisuke D; Aoki, Yuki Y; Morio, Tomohiro T; Mizutani, Shuki S; Takagi, Masatoshi M

Publication Date: 2016-12

Variant appearance in text: IFNAR1: Val168Leu

PubMed Link: 27627705

Variant Present in the following documents:

• CAS-107-1745-s003.xlsx, sheet 1

View BVdb publication page

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Multiple gene mutations identified in patients infected with influenza A (H7N9) virus.

Scientific Reports

Chen, Cuicui C; Wang, Mingbang M; Zhu, Zhaoqin Z; Qu, Jieming J; Xi, Xiuhong X; Tang, Xinjun X; Lao, Xiangda X; Seeley, Eric E; Li, Tao T; Fan, Xiaomei X; Du, Chunling C; Wang, Qin Q; Yang, Lin L; Hu, Yunwen Y; Bai, Chunxue C; Zhang, Zhiyong Z; Lu, Shuihua S; Song, Yuanlin Y; Zhou, Wenhao W

Publication Date: 2016-05-09

Variant appearance in text: rs2257167

PubMed Link: 27156515

Variant Present in the following documents:

• Main text
• srep25614.pdf

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: rs2257167

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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: IFNAR1: V168L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Association of symptoms and severity of rift valley fever with genetic polymorphisms in human innate immune pathways.

Plos Neglected Tropical Diseases

Hise, Amy G AG; Traylor, Zachary Z; Hall, Noémi B NB; Sutherland, Laura J LJ; Dahir, Saidi S; Ermler, Megan E ME; Muiruri, Samuel S; Muchiri, Eric M EM; Kazura, James W JW; LaBeaud, A Desirée AD; King, Charles H CH; Stein, Catherine M CM

Publication Date: 2015-03

Variant appearance in text: rs2257167

PubMed Link: 25756647

Variant Present in the following documents:

• Main text
• pntd.0003584.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: IFNAR1: V168L; rs2257167

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 25
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 9

View BVdb publication page

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Single nucleotide polymorphisms within interferon signaling pathway genes are associated with colorectal cancer susceptibility and survival.

Plos One

Lu, Shun S; Pardini, Barbara B; Cheng, Bowang B; Naccarati, Alessio A; Huhn, Stefanie S; Vymetalkova, Veronika V; Vodickova, Ludmila L; Buchler, Thomas T; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A

Publication Date: 2014

Variant appearance in text: rs2257167

PubMed Link: 25350395

Variant Present in the following documents:

• Main text
• pone.0111061.pdf

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: IFNAR1: V168L

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s003.xls, sheet 3

View BVdb publication page

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The associations between immunity-related genes and breast cancer prognosis in Korean women.

Plos One

Choi, Jaesung J; Song, Nan N; Han, Sohee S; Chung, Seokang S; Sung, Hyuna H; Lee, Ji-young JY; Jung, Sunjae S; Park, Sue K SK; Yoo, Keun-Young KY; Han, Wonshik W; Lee, Jong Won JW; Noh, Dong-Young DY; Kang, Daehee D; Choi, Ji-Yeob JY

Publication Date: 2014

Variant appearance in text: rs2257167

PubMed Link: 25075970

Variant Present in the following documents:

• Main text
• pone.0103593.pdf

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2
• mmc5.xlsx, sheet 3

View BVdb publication page

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TNFRSF10B polymorphisms and haplotypes associated with increased risk of death in non-small cell lung cancer.

Carcinogenesis

Schabath, Matthew B MB; Giuliano, Anna R AR; Thompson, Zachary J ZJ; Amankwah, Ernest K EK; Gray, Jhanelle E JE; Fenstermacher, David A DA; Jonathan, Kristen A KA; Beg, Amer A AA; Haura, Eric B EB

Publication Date: 2013-11

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 23839018

Variant Present in the following documents:

• Main text

View BVdb publication page

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A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma.

Journal Of Translational Medicine

Hamid, Omid O; Schmidt, Henrik H; Nissan, Aviram A; Ridolfi, Laura L; Aamdal, Steinar S; Hansson, Johan J; Guida, Michele M; Hyams, David M DM; Gómez, Henry H; Bastholt, Lars L; Chasalow, Scott D SD; Berman, David D

Publication Date: 2011-11-28

Variant appearance in text: rs2257167

PubMed Link: 22123319

Variant Present in the following documents:

• 1479-5876-9-204.pdf

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Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

Plos One

Hildebrandt, Michelle A T MA; Komaki, Ritsuko R; Liao, Zhongxing Z; Gu, Jian J; Chang, Joe Y JY; Ye, Yuanqing Y; Lu, Charles C; Stewart, David J DJ; Minna, John D JD; Roth, Jack A JA; Lippman, Scott M SM; Cox, James D JD; Hong, Waun Ki WK; Spitz, Margaret R MR; Wu, Xifeng X

Publication Date: 2010-08-25

Variant appearance in text: IFNAR1: Val168Leu; rs2257167

PubMed Link: 20811626

Variant Present in the following documents:

• Main text
• pone.0012402.pdf

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Role of inflammation gene polymorphisms on pain severity in lung cancer patients.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Reyes-Gibby, Cielito C CC; Spitz, Margaret R MR; Yennurajalingam, Sriram S; Swartz, Michael M; Gu, Jian J; Wu, Xifeng X; Bruera, Eduardo E; Shete, Sanjay S

Publication Date: 2009-10

Variant appearance in text: rs2257167

PubMed Link: 19773451

Variant Present in the following documents:

• Main text

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Variants in interferon-alpha pathway genes and response to pegylated interferon-Alpha2a plus ribavirin for treatment of chronic hepatitis C virus infection in the hepatitis C antiviral long-term treatment against cirrhosis trial.

Hepatology (Baltimore, Md.)

Welzel, Tania Mara TM; Morgan, Timothy R TR; Bonkovsky, Herbert L HL; Naishadham, Deepa D; Pfeiffer, Ruth M RM; Wright, Elizabeth C EC; Hutchinson, Amy A AA; Crenshaw, Andrew T AT; Bashirova, Arman A; Carrington, Mary M; Dotrang, Myhanh M; Sterling, Richard K RK; Lindsay, Karen L KL; Fontana, Robert J RJ; Lee, William M WM; Di Bisceglie, Adrian M AM; Ghany, Marc G MG; Gretch, David R DR; Chanock, Stephen J SJ; Chung, Raymond T RT; O'Brien, Thomas R TR; ,

Publication Date: 2009-06

Variant appearance in text: IFNAR1: V168L; rs2257167

PubMed Link: 19434718

Variant Present in the following documents:

• Main text

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Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants.

American Journal Of Human Genetics

Ayodo, George G; Price, Alkes L AL; Keinan, Alon A; Ajwang, Arthur A; Otieno, Michael F MF; Orago, Alloys S S AS; Patterson, Nick N; Reich, David D

Publication Date: 2007-08

Variant appearance in text: rs2257167

PubMed Link: 17668374

Variant Present in the following documents:

• Main text

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Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.

American Journal Of Human Genetics

Sigurdsson, Snaevar S; Nordmark, Gunnel G; Göring, Harald H H HH; Lindroos, Katarina K; Wiman, Ann-Christin AC; Sturfelt, Gunnar G; Jönsen, Andreas A; Rantapää-Dahlqvist, Solbritt S; Möller, Bozena B; Kere, Juha J; Koskenmies, Sari S; Widén, Elisabeth E; Eloranta, Maija-Leena ML; Julkunen, Heikki H; Kristjansdottir, Helga H; Steinsson, Kristjan K; Alm, Gunnar G; Rönnblom, Lars L; Syvänen, Ann-Christine AC

Publication Date: 2005-03

Variant appearance in text: rs2257167

PubMed Link: 15657875

Variant Present in the following documents:

• Main text

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