Publications:

---

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: rs1043550

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

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: rs1043550

PubMed Link: 36409824

Variant Present in the following documents:

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

View BVdb publication page

---

Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: rs1043550

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

---

N6-methyladenosine-related single-nucleotide polymorphism analyses identify oncogene RNFT2 in bladder cancer.

Cancer Cell International

Lv, Jiancheng J; Song, Qiang Q; Bai, Kexin K; Han, Jie J; Yu, Hao H; Li, Kai K; Zhuang, Juntao J; Yang, Xiao X; Yang, Haiwei H; Lu, Qiang Q

Publication Date: 2022-10-05

Variant appearance in text: rs1043550

PubMed Link: 36199110

Variant Present in the following documents:

• Main text
• 12935_2022_Article_2701.pdf

View BVdb publication page

---

Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes.

Omics : A Journal Of Integrative Biology

Muyambo, Sarudzai S; Ndadza, Arinao A; Soko, Nyarai D ND; Kruger, Bianca B; Kadzirange, Gerard G; Chimusa, Emile E; Masimirembwa, Collen M CM; Ntsekhe, Mpiko M; Nhachi, Charles F B CFB; Dandara, Collet C

Publication Date: 2021-12-24

Variant appearance in text: rs1043550

PubMed Link: 34958284

Variant Present in the following documents:

• Main text
• omi.2021.0199.pdf

View BVdb publication page

---

Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes.

Omics : A Journal Of Integrative Biology

Muyambo, Sarudzai S; Ndadza, Arinao A; Soko, Nyarai D ND; Kruger, Bianca B; Kadzirange, Gerard G; Chimusa, Emile E; Masimirembwa, Collen M CM; Ntsekhe, Mpiko M; Nhachi, Charles F B CFB; Dandara, Collet C

Publication Date: 2022-01

Variant appearance in text: rs1043550

PubMed Link: 34958284

Variant Present in the following documents:

• Main text
• omi.2021.0199.pdf

View BVdb publication page

---

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: rs1043550

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs1043550

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

A review of clinical pharmacogenetics Studies in African populations.

Personalized Medicine

Radouani, Fouzia F; Zass, Lyndon L; Hamdi, Yosr Y; Rocha, Jorge da JD; Sallam, Reem R; Abdelhak, Sonia S; Ahmed, Samah S; Azzouzi, Maryame M; Benamri, Ichrak I; Benkahla, Alia A; Bouhaouala-Zahar, Balkiss B; Chaouch, Melek M; Jmel, Haifa H; Kefi, Rym R; Ksouri, Ayoub A; Kumuthini, Judit J; Masilela, Phumlani P; Masimirembwa, Collen C; Othman, Houcemeddine H; Panji, Sumir S; Romdhane, Lilia L; Samtal, Chaimae C; Sibira, Rania R; Ghedira, Kais K; Fadlelmola, Faisal F; Kassim, Samar Kamal SK; Mulder, Nicola N

Publication Date: 2020-03

Variant appearance in text: rs1043550

PubMed Link: 32125935

Variant Present in the following documents:

• NIHMS1694746-supplement-Supplementary_file.xlsx, sheet 1

View BVdb publication page

---

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: rs1043550

PubMed Link: 31597922

Variant Present in the following documents:

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

View BVdb publication page

---

Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1043550

PubMed Link: 30214008

Variant Present in the following documents:

• Main text
• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

---

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: rs1043550

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

---

Clinical and genetic factors associated with warfarin maintenance dose in northern Chinese patients with mechanical heart valve replacement.

Medicine

Liu, Rui R; Cao, Jian J; Zhang, Qian Q; Shi, Xin-Miao XM; Pan, Xiao-Dong XD; Dong, Ran R

Publication Date: 2017-01

Variant appearance in text: rs1043550

PubMed Link: 28079798

Variant Present in the following documents:

• Main text
• medi-96-e5658.pdf

View BVdb publication page

---

Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis

Gaikwad, Tejasvita T; Ghosh, Kanjaksha K; Avery, Peter P; Kamali, Farhad F; Shetty, Shrimati S

Publication Date: 2018-03

Variant appearance in text: rs1043550

PubMed Link: 28049362

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: rs1043550

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 1

View BVdb publication page

---

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: rs1043550

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Does CALU SNP rs1043550 contribute variability to therapeutic warfarin dosing requirements?

Clinical Medicine & Research

Glurich, Ingrid I; Berg, Richard L RL; Burmester, James K JK

Publication Date: 2013-06

Variant appearance in text: rs1043550

PubMed Link: 23656803

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prediction of phenprocoumon maintenance dose and phenprocoumon plasma concentration by genetic and non-genetic parameters.

European Journal Of Clinical Pharmacology

Geisen, Christof C; Luxembourg, Beate B; Watzka, Matthias M; Toennes, Stefan W SW; Sittinger, Katja K; Marinova, Milka M; von Ahsen, Nicolas N; Lindhoff-Last, Edelgard E; Seifried, Erhard E; Oldenburg, Johannes J

Publication Date: 2011-04

Variant appearance in text: rs1043550

PubMed Link: 21110013

Variant Present in the following documents:

• Main text
• 228_2010_Article_950.pdf

View BVdb publication page

---

A polymorphism in the VKORC1 regulator calumenin predicts higher warfarin dose requirements in African Americans.

Clinical Pharmacology And Therapeutics

Voora, D D; Koboldt, D C DC; King, C R CR; Lenzini, P A PA; Eby, C S CS; Porche-Sorbet, R R; Deych, E E; Crankshaw, M M; Milligan, P E PE; McLeod, H L HL; Patel, S R SR; Cavallari, L H LH; Ridker, P M PM; Grice, G R GR; Miller, R D RD; Gage, B F BF

Publication Date: 2010-04

Variant appearance in text: rs1043550

PubMed Link: 20200517

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient.

Plos Medicine

Amariglio, Ninette N; Hirshberg, Abraham A; Scheithauer, Bernd W BW; Cohen, Yoram Y; Loewenthal, Ron R; Trakhtenbrot, Luba L; Paz, Nurit N; Koren-Michowitz, Maya M; Waldman, Dalia D; Leider-Trejo, Leonor L; Toren, Amos A; Constantini, Shlomi S; Rechavi, Gideon G

Publication Date: 2009-02-17

Variant appearance in text: rs1043550

PubMed Link: 19226183

Variant Present in the following documents:

• Main text
• pmed.1000029.pdf

View BVdb publication page

---

A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose.

Blood

Cooper, Gregory M GM; Johnson, Julie A JA; Langaee, Taimour Y TY; Feng, Hua H; Stanaway, Ian B IB; Schwarz, Ute I UI; Ritchie, Marylyn D MD; Stein, C Michael CM; Roden, Dan M DM; Smith, Joshua D JD; Veenstra, David L DL; Rettie, Allan E AE; Rieder, Mark J MJ

Publication Date: 2008-08-15

Variant appearance in text: rs1043550

PubMed Link: 18535201

Variant Present in the following documents:

• Main text

View BVdb publication page

---