Publications:

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The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences

Paes, Jhemerson J; Silva, George A V GAV; Tarragô, Andréa M AM; Mourão, Lucivana P de Souza LPS

Publication Date: 2022-10-20

Variant appearance in text: rs1159782

PubMed Link: 36293440

Variant Present in the following documents:

• Main text
• ijms-23-12582.pdf

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JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker.

Molecular Genetics & Genomic Medicine

Ngoc, Nguyen Thy NT; Hau, Bui Bich BB; Vuong, Nguyen Ba NB; Xuan, Nguyen Thi NT

Publication Date: 2022-10

Variant appearance in text: rs1159782

PubMed Link: 35996819

Variant Present in the following documents:

• Main text
• MGG3-10-e2044.pdf

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: rs1159782

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM10_ESM.xlsx, sheet 1

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances

Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF

Publication Date: 2022-08-23

Variant appearance in text: rs1159782

PubMed Link: 35381074

Variant Present in the following documents:

• Main text
• advancesADV2021005648.pdf

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JAK2 Variant Signaling: Genetic, Hematologic and Immune Implication in Chronic Myeloproliferative Neoplasms.

Biomolecules

Torres, Dania G DG; Paes, Jhemerson J; da Costa, Allyson G AG; Malheiro, Adriana A; Silva, George V GV; Mourão, Lucivana P de Souza LPS; Tarragô, Andréa M AM

Publication Date: 2022-02-11

Variant appearance in text: rs1159782

PubMed Link: 35204792

Variant Present in the following documents:

• Main text
• biomolecules-12-00291.pdf

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The Genetic Makeup of Myeloproliferative Neoplasms: Role of Germline Variants in Defining Disease Risk, Phenotypic Diversity and Outcome.

Cells

Masselli, Elena E; Pozzi, Giulia G; Carubbi, Cecilia C; Vitale, Marco M

Publication Date: 2021-09-29

Variant appearance in text: rs1159782

PubMed Link: 34685575

Variant Present in the following documents:

• Main text
• cells-10-02597.pdf

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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: JAK2: 1993-189T>C; rs1159782

PubMed Link: 33863983

Variant Present in the following documents:

• 41698_2021_170_MOESM4_ESM.xlsx, sheet 1

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Genetics and Pathogenetic Role of Inflammasomes in Philadelphia Negative Chronic Myeloproliferative Neoplasms: A Narrative Review.

International Journal Of Molecular Sciences

Di Battista, Valeria V; Bochicchio, Maria Teresa MT; Giordano, Giulio G; Napolitano, Mariasanta M; Lucchesi, Alessandro A

Publication Date: 2021-01-08

Variant appearance in text: rs1159782

PubMed Link: 33429941

Variant Present in the following documents:

• Main text
• ijms-22-00561.pdf

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Cytokine Profiling in Myeloproliferative Neoplasms: Overview on Phenotype Correlation, Outcome Prediction, and Role of Genetic Variants.

Cells

Masselli, Elena E; Pozzi, Giulia G; Gobbi, Giuliana G; Merighi, Stefania S; Gessi, Stefania S; Vitale, Marco M; Carubbi, Cecilia C

Publication Date: 2020-09-21

Variant appearance in text: rs1159782

PubMed Link: 32967342

Variant Present in the following documents:

• Main text
• cells-09-02136.pdf

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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight

Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL

Publication Date: 2020-09-03

Variant appearance in text: rs1159782

PubMed Link: 32879140

Variant Present in the following documents:

• jciinsight-5-136477-s105.xlsx, sheet 5

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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: JAK2: 1993-189T>C; rs1159782

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

International Journal Of Molecular Sciences

Anelli, Luisa L; Zagaria, Antonella A; Specchia, Giorgina G; Albano, Francesco F

Publication Date: 2018-04-11

Variant appearance in text: rs1159782

PubMed Link: 29641446

Variant Present in the following documents:

• Main text
• ijms-19-01152.pdf

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A novel susceptibility locus in MST1 and gene-gene interaction network for Crohn's disease in the Chinese population.

Journal Of Cellular And Molecular Medicine

Wu, William K K WKK; Sun, Rui R; Zuo, Tao T; Tian, Yuanyuan Y; Zeng, Zhirong Z; Ho, Jeffery J; Wu, Justin C Y JCY; Chan, Francis K L FKL; Chan, Matthew T V MTV; Yu, Jun J; Sung, Joseph J Y JJY; Wong, Sunny H SH; Wang, Maggie H MH; Ng, Siew C SC

Publication Date: 2018-04

Variant appearance in text: rs1159782

PubMed Link: 29441677

Variant Present in the following documents:

• Main text
• JCMM-22-2368.pdf

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Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.

Bmc Genetics

Koh, Su Pin SP; Yip, Shea Ping SP; Lee, Kwok Kuen KK; Chan, Chi Chung CC; Lau, Sze Man SM; Kho, Chi Shan CS; Lau, Chi Kuen CK; Lin, Shek Ying SY; Lau, Yat Ming YM; Wong, Lap Gate LG; Au, Ka Leung KL; Wong, Kit Fai KF; Chu, Raymond W RW; Yu, Pui Hung PH; Chow, Eudora Y D EY; Leung, Kate F S KF; Tsoi, Wai Chiu WC; Yung, Benjamin Y M BY

Publication Date: 2014-12-20

Variant appearance in text: rs1159782

PubMed Link: 25526816

Variant Present in the following documents:

• Main text
• 12863_2014_Article_147.pdf

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JAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines.

Blood Cancer Journal

Nauroy, P P; Delhommeau, F F; Baklouti, F F

Publication Date: 2014-06-27

Variant appearance in text: rs1159782

PubMed Link: 24972151

Variant Present in the following documents:

• Main text
• bcj201443a.pdf

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The JAK2 46/1 haplotype: a marker of inappropriate myelomonocytic response to cytokine stimulation, leading to increased risk of inflammation, myeloid neoplasm, and impaired defense against infection?

Haematologica

Hermouet, Sylvie S; Vilaine, Mathias M

Publication Date: 2011-11

Variant appearance in text: rs1159782

PubMed Link: 22058280

Variant Present in the following documents:

• Main text

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