Publications:

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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: rs1049636

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research

Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K

Publication Date: 2022-11-21

Variant appearance in text: rs1049636

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs1049636

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

View BVdb publication page

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Associations Between 25-Hydroxyvitamin D and Total and γ' Fibrinogen and Plasma Clot Properties and Gene Interactions in a Group of Healthy Black South African Women.

Frontiers In Cardiovascular Medicine

Rautenbach, Petro H PH; Nienaber-Rousseau, Cornelie C; de Lange-Loots, Zelda Z; Kruger, Iolanthé M IM; Pieters, Marlien M

Publication Date: 2022

Variant appearance in text: rs1049636

PubMed Link: 35903674

Variant Present in the following documents:

• Main text
• fcvm-09-868542.pdf

View BVdb publication page

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Fibrinogen and Atherosclerotic Cardiovascular Diseases-Review of the Literature and Clinical Studies.

International Journal Of Molecular Sciences

Surma, Stanisław S; Banach, Maciej M

Publication Date: 2021-12-24

Variant appearance in text: rs1049636

PubMed Link: 35008616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of Genetic Polymorphisms of Fibrinogen, Factor XIII A-Subunit and α2-Antiplasmin with Fibrinogen Levels in Pregnant Women.

Life (Basel, Switzerland)

Schwedler, Christian C; Heymann, Guido G; Bukreeva, Larisa L; Hoppe, Berthold B

Publication Date: 2021-12-03

Variant appearance in text: rs1049636

PubMed Link: 34947871

Variant Present in the following documents:

• Main text
• life-11-01340.pdf

View BVdb publication page

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Association of Genetic Polymorphisms of Fibrinogen, Factor XIII A-Subunit and α2-Antiplasmin with Fibrinogen Levels in Pregnant Women.

Life (Basel, Switzerland)

Schwedler, Christian C; Heymann, Guido G; Bukreeva, Larisa L; Hoppe, Berthold B

Publication Date: 2021-12-03

Variant appearance in text: rs1049636

PubMed Link: 34947871

Variant Present in the following documents:

• Main text
• life-11-01340.pdf

View BVdb publication page

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Certain Associations Between Iron Biomarkers and Total and γ' Fibrinogen and Plasma Clot Properties Are Mediated by Fibrinogen Genotypes.

Frontiers In Nutrition

Rautenbach, Petro H PH; Nienaber-Rousseau, Cornelie C; de Lange-Loots, Zelda Z; Pieters, Marlien M

Publication Date: 2021

Variant appearance in text: rs1049636

PubMed Link: 34447779

Variant Present in the following documents:

• Main text
• fnut-08-720048.pdf

View BVdb publication page

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Predictive value of C-reactive protein for radiographic spinal progression in axial spondyloarthritis in dependence on genetic determinants of fibrin clot formation and fibrinolysis.

Rmd Open

Hoppe, Berthold B; Schwedler, Christian C; Haibel, Hildrun H; Verba, Maryna M; Proft, Fabian F; Protopopov, Mikhail M; Heuft, Hans-Gert HG; Rios Rodriguez, Valeria V; Edelmann, Anke A; Rudwaleit, Martin M; Sieper, Joachim J; Poddubnyy, Denis D

Publication Date: 2021-06

Variant appearance in text: rs1049636

PubMed Link: 34187873

Variant Present in the following documents:

• Main text
• rmdopen-2021-001751supp001.pdf
• rmdopen-2021-001751supp003.pdf
• rmdopen-2021-001751.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: rs1049636

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: rs1049636

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: rs1049636

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Relation of α2-Antiplasmin Genotype and Genetic Determinants of Fibrinogen Synthesis and Fibrin Clot Formation with Vascular Endothelial Growth Factor Level in Axial Spondyloarthritis.

International Journal Of Molecular Sciences

Hoppe, Berthold B; Schwedler, Christian C; Haibel, Hildrun H; Verba, Maryna M; Proft, Fabian F; Protopopov, Mikhail M; Heuft, Hans-Gert HG; Rios Rodriguez, Valeria V; Edelmann, Anke A; Rudwaleit, Martin M; Sieper, Joachim J; Poddubnyy, Denis D

Publication Date: 2020-12-09

Variant appearance in text: rs1049636

PubMed Link: 33317138

Variant Present in the following documents:

• Main text

View BVdb publication page

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The association of alcohol with circulating total fibrinogen and plasma clot density is mediated by fibrinogen and FXIII genotypes.

Thrombosis Journal

Rautenbach, Petro Hannie PH; Nienaber-Rousseau, Cornelie C; Pieters, Marlien M

Publication Date: 2020-11-30

Variant appearance in text: rs1049636

PubMed Link: 33292263

Variant Present in the following documents:

• Main text
• 12959_2020_Article_249.pdf

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: rs1049636

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Evaluation of single nucleotide polymorphisms in 6 candidate genes and carotid intima-media thickness in community-dwelling residents.

Plos One

Wu, Fang-Yang FY; Li, Chia-Ing CI; Liao, Li-Na LN; Liu, Chiu-Shong CS; Lin, Wen-Yuan WY; Lin, Chih-Hsueh CH; Yang, Chuan-Wei CW; Li, Tsai-Chung TC; Lin, Cheng-Chieh CC

Publication Date: 2020

Variant appearance in text: rs1049636

PubMed Link: 32214403

Variant Present in the following documents:

• Main text
• pone.0230715.pdf

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: rs1049636

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: rs1049636

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes.

Journal Of Thrombosis And Haemostasis : Jth

de Haan, H G HG; van Hylckama Vlieg, A A; Lotta, L A LA; Gorski, M M MM; Bucciarelli, P P; Martinelli, I I; Baglin, T P TP; Peyvandi, F F; Rosendaal, F R FR; ,

Publication Date: 2018-12

Variant appearance in text: rs1049636

PubMed Link: 30168256

Variant Present in the following documents:

• NIHMS1021906-supplement-1.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs1049636

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

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: rs1049636

PubMed Link: 29221171

Variant Present in the following documents:

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

View BVdb publication page

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Fibrinogen and clot-related phenotypes determined by fibrinogen polymorphisms: Independent and IL-6-interactive associations.

Plos One

Cronjé, H Toinét HT; Nienaber-Rousseau, Cornelie C; Zandberg, Lizelle L; de Lange, Zelda Z; Green, Fiona R FR; Pieters, Marlien M

Publication Date: 2017

Variant appearance in text: rs1049636

PubMed Link: 29099861

Variant Present in the following documents:

• Main text
• pone.0187712.pdf

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: rs1049636

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Associations between polymorphisms in coagulation-related genes and venous thromboembolism: A meta-analysis with trial sequential analysis.

Medicine

Jiang, Jun J; Liu, Kang K; Zou, Junjie J; Ma, Hao H; Yang, Hongyu H; Zhang, Xiwei X; Jiao, Yuanyong Y

Publication Date: 2017-03

Variant appearance in text: rs1049636

PubMed Link: 28353616

Variant Present in the following documents:

• Main text
• medi-96-e6537.pdf

View BVdb publication page

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Prospective study of γ' fibrinogen and incident venous thromboembolism: The Longitudinal Investigation of Thromboembolism Etiology (LITE).

Thrombosis Research

Folsom, Aaron R AR; Tang, Weihong W; George, Kristen M KM; Heckbert, Susan R SR; MacLehose, Richard F RF; Cushman, Mary M; Pankow, James S JS

Publication Date: 2016-03

Variant appearance in text: rs1049636

PubMed Link: 26916295

Variant Present in the following documents:

• Main text

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: rs1049636

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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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: rs1049636

PubMed Link: 25944692

Variant Present in the following documents:

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

View BVdb publication page

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Identification of gene-gene and gene-environment interactions within the fibrinogen gene cluster for fibrinogen levels in three ethnically diverse populations.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Jeff, Janina M JM; Brown-Gentry, Kristin K; Crawford, Dana C DC

Publication Date: 2015

Variant appearance in text: rs1049636

PubMed Link: 25592583

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.

Genetic Epidemiology

Tang, Weihong W; Teichert, Martina M; Chasman, Daniel I DI; Heit, John A JA; Morange, Pierre-Emmanuel PE; Li, Guo G; Pankratz, Nathan N; Leebeek, Frank W FW; Paré, Guillaume G; de Andrade, Mariza M; Tzourio, Christophe C; Psaty, Bruce M BM; Basu, Saonli S; Ruiter, Rikje R; Rose, Lynda L; Armasu, Sebastian M SM; Lumley, Thomas T; Heckbert, Susan R SR; Uitterlinden, André G AG; Lathrop, Mark M; Rice, Kenneth M KM; Cushman, Mary M; Hofman, Albert A; Lambert, Jean-Charles JC; Glazer, Nicole L NL; Pankow, James S JS; Witteman, Jacqueline C JC; Amouyel, Philippe P; Bis, Joshua C JC; Bovill, Edwin G EG; Kong, Xiaoxiao X; Tracy, Russell P RP; Boerwinkle, Eric E; Rotter, Jerome I JI; Trégouët, David-Alexandre DA; Loth, Daan W DW; Stricker, Bruno H Ch BHC; Ridker, Paul M PM; Folsom, Aaron R AR; Smith, Nicholas L NL

Publication Date: 2013-07

Variant appearance in text: rs1049636

PubMed Link: 23650146

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey.

Thrombosis And Haemostasis

Jeff, Janina M JM; Brown-Gentry, Kristin K; Crawford, Dana C DC

Publication Date: 2012-03

Variant appearance in text: rs1049636

PubMed Link: 22273812

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease.

Arteriosclerosis, Thrombosis, And Vascular Biology

Lovely, Rehana S RS; Yang, Qiong Q; Massaro, Joseph M JM; Wang, Jing J; D'Agostino, Ralph B RB; O'Donnell, Christopher J CJ; Shannon, Jackilen J; Farrell, David H DH

Publication Date: 2011-10

Variant appearance in text: rs1049636

PubMed Link: 21757653

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.

Circulation. Cardiovascular Genetics

Danik, Jacqueline S JS; Paré, Guillaume G; Chasman, Daniel I DI; Zee, Robert Y L RY; Kwiatkowski, David J DJ; Parker, Alex A; Miletich, Joseph P JP; Ridker, Paul M PM

Publication Date: 2009-04

Variant appearance in text: rs1049636

PubMed Link: 20031577

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gender differences in genetic risk profiles for cardiovascular disease.

Plos One

Silander, Kaisa K; Alanne, Mervi M; Kristiansson, Kati K; Saarela, Olli O; Ripatti, Samuli S; Auro, Kirsi K; Karvanen, Juha J; Kulathinal, Sangita S; Niemelä, Matti M; Ellonen, Pekka P; Vartiainen, Erkki E; Jousilahti, Pekka P; Saarela, Janna J; Kuulasmaa, Kari K; Evans, Alun A; Perola, Markus M; Salomaa, Veikko V; Peltonen, Leena L

Publication Date: 2008

Variant appearance in text: rs1049636

PubMed Link: 18974842

Variant Present in the following documents:

• Main text
• pone.0003615.pdf

View BVdb publication page

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