Publications:

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Understanding the development of Th2 cell-driven allergic airway disease in early life.

Frontiers In Allergy

León, Beatriz B

Publication Date: 2022

Variant appearance in text: GM-CSF: I117T

PubMed Link: 36704753

Variant Present in the following documents:

• falgy-03-1080153.pdf

View BVdb publication page

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Severity of COVID-19 patients with coexistence of asthma and vitamin D deficiency.

Informatics In Medicine Unlocked

Islam, M Babul MB; Chowdhury, Utpala Nanda UN; Nashiry, Md Asif MA; Moni, Mohammad Ali MA

Publication Date: 2022

Variant appearance in text: GM-CSF: I117T

PubMed Link: 36338941

Variant Present in the following documents:

• main.pdf

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: CSF2: I117T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM13_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: CSF2: I117T

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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Association of Single Nucleotide Polymorphisms from Angiogenesis-Related Genes, ANGPT2, TLR2 and TLR9, with Spontaneous Preterm Labor.

Current Issues In Molecular Biology

Wujcicka, Wioletta Izabela WI; Kacerovsky, Marian M; Krygier, Adrian A; Krekora, Michał M; Kaczmarek, Piotr P; Grzesiak, Mariusz M

Publication Date: 2022-06-30

Variant appearance in text: rs25882

PubMed Link: 35877427

Variant Present in the following documents:

• Main text
• cimb-44-00203.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Single Nucleotide Polymorphisms from CSF2, FLT1, TFPI and TLR9 Genes Are Associated with Prelabor Rupture of Membranes.

Genes

Wujcicka, Wioletta Izabela WI; Kacerovsky, Marian M; Krekora, Michał M; Kaczmarek, Piotr P; Grzesiak, Mariusz M

Publication Date: 2021-10-28

Variant appearance in text: rs25882

PubMed Link: 34828331

Variant Present in the following documents:

• Main text
• genes-12-01725.pdf

View BVdb publication page

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Genetic Predisposition to Persistent Human Papillomavirus-Infection and Virus-Induced Cancers.

Microorganisms

Espinoza, Helen H; Ha, Kim T KT; Pham, Trang T TT; Espinoza, J Luis JL

Publication Date: 2021-10-03

Variant appearance in text: rs25882

PubMed Link: 34683414

Variant Present in the following documents:

• Main text
• microorganisms-09-02092.pdf

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: CSF2: 350T>C; I117T; rs25882

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: CSF2: 350T>C; I117T; rs25882

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 1
• pone.0249324.s003.xlsx, sheet 2

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CSF2: 350T>C; I117T; rs25882

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression.

International Journal Of Immunogenetics

Karakas Celik, Sevim S; Cakmak Genc, Gunes G; Dursun, Ahmet A

Publication Date: 2021-04

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 33246355

Variant Present in the following documents:

• Main text
• IJI-9999-na.pdf

View BVdb publication page

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Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International

Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2020

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 32624706

Variant Present in the following documents:

• 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1

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: CSF2: I117T; rs25882

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, 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: rs25882

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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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CSF2: I117T

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.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: CSF2: I117T; rs25882

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5

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: rs25882

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: CSF2: I117T; rs25882

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 Susceptibility Loci for Cardiovascular Disease and Their Impact on Atherosclerotic Plaques.

Circulation. Genomic And Precision Medicine

van der Laan, Sander W SW; Siemelink, Marten A MA; Haitjema, Saskia S; Foroughi Asl, Hassan H; Perisic, Ljubica L; Mokry, Michal M; van Setten, Jessica J; Malik, Rainer R; Dichgans, Martin M; Worrall, Bradford B BB; , ; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; Hedin, Ulf U; Paulsson-Berne, Gabrielle G; Björkegrenn, Johan L M JLM; de Borst, Gert J GJ; Asselbergs, Folkert W FW; den Ruijter, Folkert W FW; de Bakker, Paul I W PIW; Pasterkamp, Gerard G

Publication Date: 2018-09

Variant appearance in text: rs25882

PubMed Link: 30354329

Variant Present in the following documents:

• hcg-11-e002115-s001.pdf

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: CSF2: 350T>C; Ile117Thr; rs25882

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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Genetic Mechanisms of Asthma and the Implications for Drug Repositioning.

Genes

Huo, Yue Y; Zhang, Hong-Yu HY

Publication Date: 2018-05-03

Variant appearance in text: rs25882

PubMed Link: 29751569

Variant Present in the following documents:

• Main text
• genes-09-00237.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: CSF2: I117T; rs25882

PubMed Link: 29221171

Variant Present in the following documents:

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

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: rs25882

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Immune-related gene polymorphisms in pulmonary diseases.

Toxicology

Singh, Dhirendra P DP; Bagam, Prathyusha P; Sahoo, Malaya K MK; Batra, Sanjay S

Publication Date: 2017-05-15

Variant appearance in text: rs25882

PubMed Link: 28366820

Variant Present in the following documents:

• Main text

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population.

Human Genomics

Zholdybayeva, Elena V EV; Talzhanov, Yerkebulan A YA; Aitkulova, Akbota M AM; Tarlykov, Pavel V PV; Kulmambetova, Gulmira N GN; Iskakova, Aisha N AN; Dzholdasbekova, Aliya U AU; Visternichan, Olga A OA; Taizhanova, Dana Zh DZh; Ramanculov, Yerlan M YM

Publication Date: 2016-06-08

Variant appearance in text: rs25882

PubMed Link: 27277665

Variant Present in the following documents:

• Main text
• 40246_2016_Article_77.pdf

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: CSF2: I117T

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.

Human Genomics

Bruse, Shannon S; Moreau, Michael M; Bromberg, Yana Y; Jang, Jun-Ho JH; Wang, Nan N; Ha, Hongseok H; Picchi, Maria M; Lin, Yong Y; Langley, Raymond J RJ; Qualls, Clifford C; Klensney-Tait, Julia J; Zabner, Joseph J; Leng, Shuguang S; Mao, Jenny J; Belinsky, Steven A SA; Xing, Jinchuan J; Nyunoya, Toru T

Publication Date: 2016-01-07

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 26744305

Variant Present in the following documents:

• 40246_2015_58_MOESM5_ESM.xlsx, sheet 2
• 40246_2015_58_MOESM5_ESM.xlsx, sheet 3

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: rs25882

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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A predictive model for the development of chronic obstructive pulmonary disease.

Biomedical Reports

Guo, Y I YI; Qian, Yanrong Y; Gong, Y I YI; Pan, Chunming C; Shi, Guochao G; Wan, Huanying H

Publication Date: 2015-11

Variant appearance in text: rs25882

PubMed Link: 26623030

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium.

Human Genetics

Lei, Jieping J; Rudolph, Anja A; Moysich, Kirsten B KB; Behrens, Sabine S; Goode, Ellen L EL; Bolla, Manjeet K MK; Dennis, Joe J; Dunning, Alison M AM; Easton, Douglas F DF; Wang, Qin Q; Benitez, Javier J; Hopper, John L JL; Southey, Melissa C MC; Schmidt, Marjanka K MK; Broeks, Annegien A; Fasching, Peter A PA; Haeberle, Lothar L; Peto, Julian J; Dos-Santos-Silva, Isabel I; Sawyer, Elinor J EJ; Tomlinson, Ian I; Burwinkel, Barbara B; Marmé, Frederik F; Guénel, Pascal P; Truong, Thérèse T; Bojesen, Stig E SE; Flyger, Henrik H; Nielsen, Sune F SF; Nordestgaard, Børge G BG; González-Neira, Anna A; Menéndez, Primitiva P; Anton-Culver, Hoda H; Neuhausen, Susan L SL; Brenner, Hermann H; Arndt, Volker V; Meindl, Alfons A; Schmutzler, Rita K RK; Brauch, Hiltrud H; Hamann, Ute U; Nevanlinna, Heli H; Fagerholm, Rainer R; Dörk, Thilo T; Bogdanova, Natalia V NV; Mannermaa, Arto A; Hartikainen, Jaana M JM; , ; , ; Van Dijck, Laurien L; Smeets, Ann A; Flesch-Janys, Dieter D; Eilber, Ursula U; Radice, Paolo P; Peterlongo, Paolo P; Couch, Fergus J FJ; Hallberg, Emily E; Giles, Graham G GG; Milne, Roger L RL; Haiman, Christopher A CA; Schumacher, Fredrick F; Simard, Jacques J; Goldberg, Mark S MS; Kristensen, Vessela V; Borresen-Dale, Anne-Lise AL; Zheng, Wei W; Beeghly-Fadiel, Alicia A; Winqvist, Robert R; Grip, Mervi M; Andrulis, Irene L IL; Glendon, Gord G; García-Closas, Montserrat M; Figueroa, Jonine J; Czene, Kamila K; Brand, Judith S JS; Darabi, Hatef H; Eriksson, Mikael M; Hall, Per P; Li, Jingmei J; Cox, Angela A; Cross, Simon S SS; Pharoah, Paul D P PD; Shah, Mitul M; Kabisch, Maria M; Torres, Diana D; Jakubowska, Anna A; Lubinski, Jan J; Ademuyiwa, Foluso F; Ambrosone, Christine B CB; Swerdlow, Anthony A; Jones, Michael M; Chang-Claude, Jenny J

Publication Date: 2016-01

Variant appearance in text: rs25882

PubMed Link: 26621531

Variant Present in the following documents:

• Main text
• 439_2015_Article_1616.pdf

View BVdb publication page

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A population-based case-control study of genetic variation in cytokine genes associated with risk of cervical and vulvar cancers.

Gynecologic Oncology

Hardikar, Sheetal S; Johnson, Lisa G LG; Malkki, Mari M; Petersdorf, Effie W EW; Galloway, Denise A DA; Schwartz, Stephen M SM; Madeleine, Margaret M MM

Publication Date: 2015-10

Variant appearance in text: rs25882

PubMed Link: 26241630

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: CSF2: I117T

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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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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: CSF2: I117T; rs25882

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1

View BVdb publication page

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Polymorphisms in key pulmonary inflammatory pathways and the development of acute respiratory distress syndrome.

Experimental Lung Research

Brown, Samuel M SM; Grissom, Colin K CK; Rondina, Matthew T MT; Hoidal, John R JR; Scholand, Mary Beth MB; Wolff, Roger K RK; Morris, Alan H AH; Paine, Robert R; ,

Publication Date: 2015-04

Variant appearance in text: rs25882

PubMed Link: 25513711

Variant Present in the following documents:

• Main text

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: CSF2: I117T; rs25882

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: CSF2: Ile117Thr

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: CSF2: I117T

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

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Association of polymorphisms in natural killer cell-related genes with preterm birth.

American Journal Of Epidemiology

Harmon, Quaker E QE; Engel, Stephanie M SM; Olshan, Andrew F AF; Moran, Thomas T; Stuebe, Alison M AM; Luo, Jingchun J; Wu, Michael C MC; Avery, Christy L CL

Publication Date: 2013-10-15

Variant appearance in text: rs25882

PubMed Link: 23982189

Variant Present in the following documents:

• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Epistatic study reveals two genetic interactions in blood pressure regulation.

Bmc Medical Genetics

Ndiaye, Ndeye Coumba NC; Said, El Shamieh el S; Stathopoulou, Maria G MG; Siest, Gérard G; Tsai, Michael Y MY; Visvikis-Siest, Sophie S

Publication Date: 2013-01-08

Variant appearance in text: rs25882

PubMed Link: 23298194

Variant Present in the following documents:

• Main text

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Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Chinese Han population: a case-control study.

Bmc Medical Genomics

Guo, Yi Y; Gong, Yi Y; Pan, Chunming C; Qian, Yanrong Y; Shi, Guochao G; Cheng, Qijian Q; Li, Qingyun Q; Ren, Lei L; Weng, Qiuling Q; Chen, Yi Y; Cheng, Ting T; Fan, Liang L; Jiang, Zhihong Z; Wan, Huanying H

Publication Date: 2012-12-26

Variant appearance in text: rs25882

PubMed Link: 23267696

Variant Present in the following documents:

• Main text

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Differential allelic expression of IL13 and CSF2 genes associated with asthma.

Genetics And Molecular Biology

Burkhardt, Jana J; Kirsten, Holger H; Wolfram, Grit G; Quente, Elfi E; Ahnert, Peter P

Publication Date: 2012-07

Variant appearance in text: CSF2: I117T; rs25882

PubMed Link: 23055793

Variant Present in the following documents:

• Main text
• gmb-35-3-567.pdf

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Genetic polymorphisms associated with anti-malarial antibody levels in a low and unstable malaria transmission area in southern Sri Lanka.

Malaria Journal

Dewasurendra, Rajika L RL; Suriyaphol, Prapat P; Fernando, Sumadhya D SD; Carter, Richard R; Rockett, Kirk K; Corran, Patrick P; Kwiatkowski, Dominic D; Karunaweera, Nadira D ND; ,

Publication Date: 2012-08-20

Variant appearance in text: rs25882

PubMed Link: 22905743

Variant Present in the following documents:

• Main text

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Systematic testing of literature reported genetic variation associated with coronary restenosis: results of the GENDER Study.

Plos One

Verschuren, Jeffrey J W JJ; Trompet, Stella S; Postmus, Iris I; Sampietro, M Lourdes ML; Heijmans, Bastiaan T BT; Houwing-Duistermaat, Jeanine J JJ; Slagboom, P Eline PE; Jukema, J Wouter JW

Publication Date: 2012

Variant appearance in text: rs25882

PubMed Link: 22879966

Variant Present in the following documents:

• Main text

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Association of inflammatory gene polymorphisms with ischemic stroke in a Chinese Han population.

Journal Of Neuroinflammation

Zhao, Nan N; Liu, Xin X; Wang, Yongqin Y; Liu, Xiaoqiu X; Li, Jiana J; Yu, Litian L; Ma, Liyuan L; Wang, Shuyu S; Zhang, Hongye H; Liu, Lisheng L; Zhao, Jingbo J; Wang, Xingyu X

Publication Date: 2012-07-06

Variant appearance in text: rs25882

PubMed Link: 22769019

Variant Present in the following documents:

• Main text
• 1742-2094-9-162.pdf

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Polymorphisms in immune function genes and non-Hodgkin lymphoma survival.

Journal Of Cancer Survivorship : Research And Practice

Aschebrook-Kilfoy, Briseis B; Zheng, Tongzhang T; Foss, Francine F; Ma, Shuangge S; Han, Xuesong X; Lan, Qing Q; Holford, Theodore T; Chen, Yingtai Y; Leaderer, Brian B; Rothman, Nathaniel N; Zhang, Yawei Y

Publication Date: 2012-03

Variant appearance in text: rs25882

PubMed Link: 22113576

Variant Present in the following documents:

• Main text

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Genetic predictors for stroke in children with sickle cell anemia.

Blood

Flanagan, Jonathan M JM; Frohlich, Denise M DM; Howard, Thad A TA; Schultz, William H WH; Driscoll, Catherine C; Nagasubramanian, Ramamoorthy R; Mortier, Nicole A NA; Kimble, Amy C AC; Aygun, Banu B; Adams, Robert J RJ; Helms, Ronald W RW; Ware, Russell E RE

Publication Date: 2011-06-16

Variant appearance in text: rs25882

PubMed Link: 21515823

Variant Present in the following documents:

• Main text

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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: CSF2: Ile117Thr; rs25882

PubMed Link: 20811626

Variant Present in the following documents:

• Main text
• pone.0012402.pdf

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