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: rs5472

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: rs5472

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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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: rs5472

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Highly diversified core promoters in the human genome and their effects on gene expression and disease predisposition.

Bmc Genomics

Gupta, Hemant H; Chandratre, Khyati K; Sinha, Siddharth S; Huang, Teng T; Wu, Xiaobing X; Cui, Jian J; Zhang, Michael Q MQ; Wang, San Ming SM

Publication Date: 2020-11-30

Variant appearance in text: rs5472

PubMed Link: 33256598

Variant Present in the following documents:

• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 4
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 17
• 12864_2020_7222_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Haptoglobin polymorphisms in Latin American populations.

Scientific Reports

Soejima, Mikiko M; Koda, Yoshiro Y

Publication Date: 2020-08-13

Variant appearance in text: rs5472

PubMed Link: 32792581

Variant Present in the following documents:

• Main text
• 41598_2020_Article_70755.pdf

View BVdb publication page

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Low plasma haptoglobin is a risk factor for life-threatening childhood severe malarial anemia and not an exclusive consequence of hemolysis.

Scientific Reports

Abah, Samuel Eneọjọ SE; Burté, Florence F; Marquet, Sandrine S; Brown, Biobele J BJ; Akinkunmi, Francis F; Oyinloye, Gbeminiyi G; Afolabi, Nathaniel K NK; Omokhodion, Samuel S; Lagunju, Ikeoluwa I; Shokunbi, Wuraola A WA; Wahlgren, Mats M; Dessein, Hélia H; Argiro, Laurent L; Dessein, Alain J AJ; Noyvert, Boris B; Hunt, Lilian L; Elgar, Greg G; Sodeinde, Olugbemiro O; Holder, Anthony A AA; Fernandez-Reyes, Delmiro D

Publication Date: 2018-12-03

Variant appearance in text: rs5472

PubMed Link: 30510258

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35944.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: HP: -85A>G; rs5472

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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Genetic markers for urine haptoglobin is associated with decline in renal function in type 2 diabetes in East Asians.

Scientific Reports

Gurung, Resham Lal RL; Dorajoo, Rajkumar R; Liu, Sylvia S; M, Yiamunaa Y; Liu, Jian-Jun JJ; Wang, Ling L; Guo, Lin L; Yu, Xueqing X; Liu, Jian-Jun JJ; Lim, Su Chi SC

Publication Date: 2018-03-23

Variant appearance in text: rs5472

PubMed Link: 29572449

Variant Present in the following documents:

• Main text
• 41598_2018_Article_23407.pdf

View BVdb publication page

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The frontline of immune response in peripheral blood.

Plos One

Song, Fuhai F; Qian, Ying Y; Peng, Xing X; Li, Xiuhui X; Xing, Peiqi P; Ye, Dongqing D; Lei, Hongxing H

Publication Date: 2017

Variant appearance in text: rs5472

PubMed Link: 28771541

Variant Present in the following documents:

• Main text
• pone.0182294.pdf

View BVdb publication page

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Single nucleotide polymorphisms of the haptoglobin gene in non-small cell lung cancer treated with personalized peptide vaccination.

Oncology Letters

Waki, Kayoko K; Yamada, Teppei T; Yoshiyama, Koichi K; Terazaki, Yasuhiro Y; Sakamoto, Shinjiro S; Sugawara, Shunichi S; Takamori, Shinzo S; Itoh, Kyogo K; Yamada, Akira A

Publication Date: 2017-02

Variant appearance in text: rs5472

PubMed Link: 28356990

Variant Present in the following documents:

• Main text

View BVdb publication page

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A comparison of key aspects of gene regulation in Streptomyces coelicolor and Escherichia coli using nucleotide-resolution transcription maps produced in parallel by global and differential RNA sequencing.

Molecular Microbiology

Romero, David A DA; Hasan, Ayad H AH; Lin, Yu-Fei YF; Kime, Louise L; Ruiz-Larrabeiti, Olatz O; Urem, Mia M; Bucca, Giselda G; Mamanova, Lira L; Laing, Emma E EE; van Wezel, Gilles P GP; Smith, Colin P CP; Kaberdin, Vladimir R VR; McDowall, Kenneth J KJ

Publication Date: 2014-09-30

Variant appearance in text: rs5472

PubMed Link: 25266672

Variant Present in the following documents:

• mmi0094-0963-sd1.pdf

View BVdb publication page

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Haptoglobin and sickle cell polymorphisms and risk of active trachoma in Gambian children.

Plos One

Savy, Mathilde M; Hennig, Branwen J BJ; Doherty, Conor P CP; Fulford, Anthony J AJ; Bailey, Robin R; Holland, Martin J MJ; Sirugo, Giorgio G; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP; Prentice, Andrew M AM; Cox, Sharon E SE

Publication Date: 2010-06-11

Variant appearance in text: rs5472

PubMed Link: 20552021

Variant Present in the following documents:

• Main text
• pone.0011075.pdf

View BVdb publication page

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