Publications:

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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: rs3135932

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.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: IL10RA: S159G

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Germline genetic biomarkers to stratify patients for personalized radiation treatment.

Journal Of Translational Medicine

Deichaite, Ida I; Hopper, Austin A; Krockenberger, Lena L; Sears, Timothy J TJ; Sutton, Leisa L; Ray, Xenia X; Sharabi, Andrew A; Navon, Ami A; Sanghvi, Parag P; Carter, Hannah H; Moiseenko, Vitali V

Publication Date: 2022-08-12

Variant appearance in text: IL10RA: Ser159Gly; rs3135932

PubMed Link: 35962345

Variant Present in the following documents:

• 12967_2022_Article_3561.pdf

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: IL10RA: 475A>G; S159G; rs3135932

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: IL10RA: S159G

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Replication analysis of variants associated with multiple sclerosis risk.

Scientific Reports

Dashti, Mohammad M; Ateyah, Khadijah K; Alroughani, Raed R; Al-Temaimi, Rabeah R

Publication Date: 2020-04-30

Variant appearance in text: rs3135932

PubMed Link: 32355262

Variant Present in the following documents:

• 41598_2020_64432_MOESM1_ESM.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: IL10RA: 475A>G; Ser159Gly; rs3135932

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: IL10RA: 475A>G; Ser159Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: IL10RA: S159G; rs3135932

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7

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: IL10RA: 475A>G; rs3135932

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease.

International Journal Of Molecular Sciences

Frade-Proud'Hon-Clerc, Sara S; Smol, Thomas T; Frenois, Frédéric F; Sand, Olivier O; Vaillant, Emmanuel E; Dhennin, Véronique V; Bonnefond, Amélie A; Froguel, Philippe P; Fumery, Mathurin M; Guillon-Dellac, Nathalie N; Gower-Rousseau, Corinne C; Vasseur, Francis F

Publication Date: 2019-02-15

Variant appearance in text: IL10RA: S159G

PubMed Link: 30769939

Variant Present in the following documents:

• Main text
• ijms-20-00835.pdf

View BVdb publication page

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Association of a PD-L2 Gene Polymorphism with Chronic Lymphatic Filariasis in a South Indian Cohort.

The American Journal Of Tropical Medicine And Hygiene

Venugopal, Gopinath G; O'Regan, Noëlle L NL; Babu, Subash S; Schumann, Ralf R RR; Srikantam, Aparna A; Merle, Roswitha R; Hartmann, Susanne S; Steinfelder, Svenja S

Publication Date: 2019-02

Variant appearance in text: rs3135932

PubMed Link: 30594267

Variant Present in the following documents:

• Main text

View BVdb publication page

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Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers.

The Brazilian Journal Of Infectious Diseases : An Official Publication Of The Brazilian Society Of Infectious Diseases

Coelho, Antonio V C AVC; Moura, Ronald R de RR; Guimarães, Rafael L RL; Brandão, Lucas A C LAC; Crovella, Sergio S

Publication Date: 2018

Variant appearance in text: rs3135932

PubMed Link: 30392849

Variant Present in the following documents:

• Main text
• main.pdf

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: IL10RA: S159G; rs3135932

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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Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: IL10RA: S159G; rs3135932

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

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: IL10RA: S159G; rs3135932

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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Genetic association and epistatic interaction of the interleukin-10 signaling pathway in pediatric inflammatory bowel disease.

World Journal Of Gastroenterology

Lin, Zhenwu Z; Wang, Zhong Z; Hegarty, John P JP; Lin, Tony R TR; Wang, Yunhua Y; Deiling, Sue S; Wu, Rongling R; Thomas, Neal J NJ; Floros, Joanna J

Publication Date: 2017-07-21

Variant appearance in text: IL10RA: Ser159Gly; rs3135932

PubMed Link: 28785144

Variant Present in the following documents:

• Main text
• WJG-23-4897.pdf

View BVdb publication page

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Modulation of the Host Environment by Human Cytomegalovirus with Viral Interleukin 10 in Peripheral Blood.

The Journal Of Infectious Diseases

Young, Vivian P VP; Mariano, Margarette C MC; Tu, Carolyn C CC; Allaire, Kathryn M KM; Avdic, Selmir S; Slobedman, Barry B; Spencer, Juliet V JV

Publication Date: 2017-03-15

Variant appearance in text: rs3135932

PubMed Link: 28453840

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Scientific Reports

Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E

Publication Date: 2016-09-27

Variant appearance in text: rs3135932

PubMed Link: 27670835

Variant Present in the following documents:

• srep34076-s1.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: rs3135932

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: IL10RA: S159G; rs3135932

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics

Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP

Publication Date: 2015-06-20

Variant appearance in text: IL10RA: 475A>G; S159G; rs3135932

PubMed Link: 26092435

Variant Present in the following documents:

• 40246_2015_34_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis.

Hematological Oncology

Sud, Amit A; Hemminki, Kari K; Houlston, Richard S RS

Publication Date: 2017-03

Variant appearance in text: IL10RA: S159G; rs3135932

PubMed Link: 26053036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs3135932

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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: IL10RA: S159G; rs3135932

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: IL10RA: Ser159Gly

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s002.xls, sheet 3

View BVdb publication page

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Novel missense mutation in the NOD2 gene in a patient with early onset ulcerative colitis: causal or chance association?

International Journal Of Molecular Sciences

Girardelli, Martina M; Vuch, Josef J; Tommasini, Alberto A; Crovella, Sergio S; Bianco, Anna Monica AM

Publication Date: 2014-03-03

Variant appearance in text: IL10RA: 475A>G; rs3135932

PubMed Link: 24595243

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of genetic variants in inflammatory-related genes on prostate cancer risk among men of African Descent: a case control study.

Hereditary Cancer In Clinical Practice

Jones, Dominique Z DZ; Ragin, Camille C; Kidd, Nayla C NC; Flores-Obando, Rafael E RE; Jackson, Maria M; McFarlane-Anderson, Norma N; Tulloch-Reid, Marshall M; Kimbro, Kevin S KS; Kidd, Lacreis R LR

Publication Date: 2013-12-23

Variant appearance in text: rs3135932

PubMed Link: 24359571

Variant Present in the following documents:

• Main text
• 1897-4287-11-19.pdf

View BVdb publication page

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Evaluation of hepatitis C virus as a risk factor for HIV-associated neuroretinal disorder.

Clinical Infectious Diseases : An Official Publication Of The Infectious Diseases Society Of America

Branch, Andrea D AD; Drye, Lea T LT; Van Natta, Mark L ML; Sezgin, Efe E; Fishman, Sarah L SL; Dieterich, Douglas T DT; Meinert, Curtis L CL; Jabs, Douglas A DA

Publication Date: 2013-12

Variant appearance in text: rs3135932

PubMed Link: 24081683

Variant Present in the following documents:

• Main text

View BVdb publication page

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Nucleotide variation in IL-10 and IL-12 and their receptors and cervical and vulvar cancer risk: a hybrid case-parent triad and case-control study.

International Journal Of Cancer

Hussain, Shehnaz K SK; Madeleine, Margaret M MM; Johnson, Lisa G LG; Du, Qin Q; Galloway, Denise A DA; Daling, Janet R JR; Malkki, Mari M; Petersdorf, Effie W EW; Schwartz, Stephen M SM

Publication Date: 2013-07

Variant appearance in text: rs3135932

PubMed Link: 23280621

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction of Crohn's disease susceptibility genes in an Australian paediatric cohort.

Plos One

Wagner, Josef J; Sim, Winnie H WH; Ellis, Justine A JA; Ong, Eng K EK; Catto-Smith, Anthony G AG; Cameron, Donald J S DJ; Bishop, Ruth F RF; Kirkwood, Carl D CD

Publication Date: 2010-11-08

Variant appearance in text: IL10RA: Ser159Gly; rs3135932

PubMed Link: 21079743

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: IL10RA: Ser159Gly; rs3135932

PubMed Link: 20811626

Variant Present in the following documents:

• Main text
• pone.0012402.pdf

View BVdb publication page

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Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDS.

The Journal Of Infectious Diseases

Sezgin, Efe E; Jabs, Douglas A DA; Hendrickson, Sher L SL; Van Natta, Mark M; Zdanov, Alexander A; Lewis, Richard Alan RA; Smith, Michael W MW; Troyer, Jennifer L JL; O'Brien, Stephen J SJ; ,

Publication Date: 2010-08-15

Variant appearance in text: rs3135932

PubMed Link: 20617924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of host genetics on incidence of HIV neuroretinal disorder in patients with AIDS.

Journal Of Acquired Immune Deficiency Syndromes (1999)

Sezgin, Efe E; Hendrickson, Sher L SL; Jabs, Douglas A DA; Van Natta, Mark L ML; Lewis, Richard A RA; Troyer, Jennifer L JL; O'Brien, Stephen J SJ; ,

Publication Date: 2010-08

Variant appearance in text: rs3135932

PubMed Link: 20531015

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs3135932

PubMed Link: 19773451

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: IL10RA: S159G; rs3135932

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

View BVdb publication page

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