Publications:

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Association of JAK/STAT genetic variants with cutaneous melanoma.

Frontiers In Oncology

Gomez, Gabriela Vilas Bôas GVB; Lourenço, Gustavo Jacob GJ; Monteiro, Lummy Maria Oliveira LMO; Rocha, Rafael Silva RS; Fernández, Kimberly Anne McGrail KAM; Recio, Juan Angel JA; Torricelli, Caroline C; Coser, Lilian Oliveira LO; Oliveira, Alexandre Leite Rodrigues ALR; Carron, Juliana J; Moraes, Aparecida Machado AM; Lima, Carmen Silvia Passos CSP

Publication Date: 2022

Variant appearance in text: JAK1: 991-27C>T; rs2256298

PubMed Link: 35982955

Variant Present in the following documents:

• Main text
• fonc-12-943483.pdf
• DataSheet_1.pdf

View BVdb publication page

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Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology

Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R

Publication Date: 2021-04-16

Variant appearance in text: JAK1: 991-27C>T; rs2256298

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.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: rs2256298

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.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: rs2256298

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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: JAK1: 991-27C>T; rs2256298

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.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: rs2256298

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

European Journal Of Human Genetics : Ejhg

Meyer, Christian G CG; Intemann, Christopher D CD; Förster, Birgit B; Owusu-Dabo, Ellis E; Franke, Andre A; Horstmann, Rolf D RD; Thye, Thorsten T

Publication Date: 2016-05

Variant appearance in text: rs2256298

PubMed Link: 26242990

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: rs2256298

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic variation in the JAK/STAT/SOCS signaling pathway influences breast cancer-specific mortality through interaction with cigarette smoking and use of aspirin/NSAIDs: the Breast Cancer Health Disparities Study.

Breast Cancer Research And Treatment

Slattery, Martha L ML; Lundgreen, Abbie A; Hines, Lisa M LM; Torres-Mejia, Gabriela G; Wolff, Roger K RK; Stern, Mariana C MC; John, Esther M EM

Publication Date: 2014-08

Variant appearance in text: rs2256298

PubMed Link: 25104439

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathway analysis using genome-wide association study data for coronary restenosis--a potential role for the PARVB gene.

Plos One

Verschuren, Jeffrey J W JJ; Trompet, Stella S; Sampietro, M Lourdes ML; Heijmans, Bastiaan T BT; Koch, Werner W; Kastrati, Adnan A; Houwing-Duistermaat, Jeanine J JJ; Slagboom, P Eline PE; Quax, Paul H A PH; Jukema, J Wouter JW

Publication Date: 2013

Variant appearance in text: rs2256298

PubMed Link: 23950981

Variant Present in the following documents:

• Main text
• pone.0070676.pdf

View BVdb publication page

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JAK/STAT/SOCS-signaling pathway and colon and rectal cancer.

Molecular Carcinogenesis

Slattery, Martha L ML; Lundgreen, Abbie A; Kadlubar, Susan A SA; Bondurant, Kristina L KL; Wolff, Roger K RK

Publication Date: 2013-02

Variant appearance in text: rs2256298

PubMed Link: 22121102

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dengue hemorrhagic fever is associated with polymorphisms in JAK1.

European Journal Of Human Genetics : Ejhg

Silva, Luciano K LK; Blanton, Ronald E RE; Parrado, Antonio R AR; Melo, Paulo S PS; Morato, Vanessa G VG; Reis, Eliana A G EA; Dias, Juarez P JP; Castro, Jesuina M JM; Vasconcelos, Pedro F C PF; Goddard, Katrina A B KA; Barreto, Maurício L ML; Reis, Mitermayer G MG; Teixeira, M Glória MG

Publication Date: 2010-11

Variant appearance in text: rs2256298

PubMed Link: 20588308

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs2256298

PubMed Link: 19434718

Variant Present in the following documents:

• Main text

View BVdb publication page

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