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: rs2279015

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: SLC11A1: 1389-85G>A; rs2279015

PubMed Link: 36409824

Variant Present in the following documents:

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

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A Patient with Rheumatoid Arthritis under Methotrexate and Etanercept Treatment Presenting with Fever and Pancytopenia: An Unexpected Guest.

Mediterranean Journal Of Rheumatology

Patoulias, Dimitrios D; Papachristou, Savvas S; Gouridou, Evgenia E; Stamou, Dafni D; Chissan, Sofia S; Bakatselos, Spyridon S

Publication Date: 2021-06

Variant appearance in text: rs2279015

PubMed Link: 34447913

Variant Present in the following documents:

• Main text
• MJR-32-2-160.pdf

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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: SLC11A1: 1389-85G>A; rs2279015

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.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: SLC11A1: 1389-85G>A; rs2279015

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1
• Table_5.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: rs2279015

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Comprehensive candidate gene analysis for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil.

Annals Of Human Genetics

Weirather, Jason L JL; Duggal, Priya P; Nascimento, Eliana L EL; Monteiro, Gloria R GR; Martins, Daniella R DR; Lacerda, Henio G HG; Fakiola, Michaela M; Blackwell, Jenefer M JM; Jeronimo, Selma M B SM; Wilson, Mary E ME

Publication Date: 2017-01

Variant appearance in text: rs2279015

PubMed Link: 28054334

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of the solute carrier family 11 member 1 gene polymorphisms with susceptibility to leprosy in a Brazilian sample.

Memorias Do Instituto Oswaldo Cruz

Brochado, Maria José Franco MJ; Gatti, Maria Fernanda Chociay MF; Zago, Marco Antônio MA; Roselino, Ana Maria AM

Publication Date: 2016-02

Variant appearance in text: rs2279015

PubMed Link: 26814595

Variant Present in the following documents:

• Main text
• 0074-0276-mioc-111-2-0101.pdf

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: rs2279015

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

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Genetic Polymorphisms of Functional Candidate Genes and Recurrent Acute Otitis Media With or Without Tympanic Membrane Perforation.

Medicine

Esposito, Susanna S; Marchisio, Paola P; Orenti, Annalisa A; Spena, Silvia S; Bianchini, Sonia S; Nazzari, Erica E; Rosazza, Chiara C; Zampiero, Alberto A; Biganzoli, Elia E; Principi, Nicola N

Publication Date: 2015-10

Variant appearance in text: rs2279015

PubMed Link: 26496338

Variant Present in the following documents:

• medi-94-e1860.pdf

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No evidence for association between SLC11A1 and visceral leishmaniasis in India.

Bmc Medical Genetics

Mehrotra, Sanjana S; Oommen, Joyce J; Mishra, Anshuman A; Sudharshan, Medhavi M; Tiwary, Puja P; Jamieson, Sarra E SE; Fakiola, Michaela M; Rani, Deepa Selvi DS; Thangaraj, Kumarasamy K; Rai, Madhukar M; Sundar, Shyam S; Blackwell, Jenefer M JM

Publication Date: 2011-05-20

Variant appearance in text: rs2279015

PubMed Link: 21599885

Variant Present in the following documents:

• Main text
• 1471-2350-12-71.pdf

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Evidence of association with type 1 diabetes in the SLC11A1 gene region.

Bmc Medical Genetics

Yang, Jennie H M JH; Downes, Kate K; Howson, Joanna M M JM; Nutland, Sarah S; Stevens, Helen E HE; Walker, Neil M NM; Todd, John A JA

Publication Date: 2011-04-27

Variant appearance in text: rs2279015

PubMed Link: 21524304

Variant Present in the following documents:

• Main text
• 1471-2350-12-59.pdf

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CXCR1 and SLC11A1 polymorphisms affect susceptibility to cutaneous leishmaniasis in Brazil: a case-control and family-based study.

Bmc Medical Genetics

Castellucci, Léa L; Jamieson, Sarra E SE; Miller, E Nancy EN; Menezes, Eliane E; Oliveira, Joyce J; Magalhães, Andrea A; Guimarães, Luiz Henrique LH; Lessa, Marcus M; de Jesus, Amélia Ribeiro AR; Carvalho, Edgar M EM; Blackwell, Jenefer M JM

Publication Date: 2010-01-20

Variant appearance in text: rs2279015

PubMed Link: 20089160

Variant Present in the following documents:

• Main text
• 1471-2350-11-10.pdf

View BVdb publication page

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Association of SLC11A1 with tuberculosis and interactions with NOS2A and TLR2 in African-Americans and Caucasians.

The International Journal Of Tuberculosis And Lung Disease : The Official Journal Of The International Union Against Tuberculosis And Lung Disease

Velez, D R DR; Hulme, W F WF; Myers, J L JL; Stryjewski, M E ME; Abbate, E E; Estevan, R R; Patillo, S G SG; Gilbert, J R JR; Hamilton, C D CD; Scott, W K WK

Publication Date: 2009-09

Variant appearance in text: rs2279015

PubMed Link: 19723394

Variant Present in the following documents:

• Main text

View BVdb publication page

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