Publications:

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Complexity of Sex Differences and Their Impact on Alzheimer's Disease.

Biomedicines

Kadlecova, Marion M; Freude, Kristine K; Haukedal, Henriette H

Publication Date: 2023-04-24

Variant appearance in text: rs12459419

PubMed Link: 37238932

Variant Present in the following documents:

• biomedicines-11-01261.pdf

View BVdb publication page

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Treating CD33-Positive de novo Acute Myeloid Leukemia in Pediatric Patients: Focus on the Clinical Value of Gemtuzumab Ozogamicin.

Oncotargets And Therapy

Wijnen, Noa E NE; Koedijk, Joost B JB; Klein, Kim K; Luesink, Maaike M; Goemans, Bianca F BF; Zwaan, C Michel CM; Kaspers, Gertjan J L GJL

Publication Date: 2023

Variant appearance in text: rs12459419

PubMed Link: 37153641

Variant Present in the following documents:

• Main text
• ott-16-297.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: CD33: A14V

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: CD33: A14V; rs12459419

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

International Journal Of Molecular Sciences

Yang, YoungSoon Y; Bagyinszky, Eva E; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2022-11-01

Variant appearance in text: CD33: Ala14Val

PubMed Link: 36362122

Variant Present in the following documents:

• Main text
• ijms-23-13331.pdf

View BVdb publication page

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Resistance to targeted therapies in acute myeloid leukemia.

Clinical & Experimental Metastasis

Mecklenbrauck, Rabea R; Heuser, Michael M

Publication Date: 2022-11-01

Variant appearance in text: rs12459419

PubMed Link: 36318439

Variant Present in the following documents:

• Main text
• 10585_2022_Article_10189.pdf

View BVdb publication page

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Treatment options for acute myeloid leukemia patients aged <60 years.

Frontiers In Oncology

Visani, Giuseppe G; Chiarucci, Martina M; Paolasini, Sara S; Loscocco, Federica F; Isidori, Alessandro A

Publication Date: 2022

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 36276074

Variant Present in the following documents:

• Main text
• fonc-12-897220.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs12459419

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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A scalable Bayesian functional GWAS method accounting for multivariate quantitative functional annotations with applications for studying Alzheimer disease.

Hgg Advances

Chen, Junyu J; Wang, Lei L; De Jager, Philip L PL; Bennett, David A DA; Buchman, Aron S AS; Yang, Jingjing J

Publication Date: 2022-10-13

Variant appearance in text: rs12459419

PubMed Link: 36204489

Variant Present in the following documents:

• Main text
• mmc2.pdf
• main.pdf

View BVdb publication page

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Peripheral level of CD33 and Alzheimer's disease: a bidirectional two-sample Mendelian randomization study.

Translational Psychiatry

Gu, Xiaojing X; Dou, Meng M; Cao, Bei B; Jiang, Zheng Z; Chen, Yongping Y

Publication Date: 2022-10-03

Variant appearance in text: rs12459419

PubMed Link: 36192375

Variant Present in the following documents:

• Main text
• 41398_2022_Article_2205.pdf

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs12459419

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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No Evidence that CD33 rs12459419 Polymorphism Predicts Gemtuzumab Ozogamicin Response in Consolidation Treatment of Acute Myeloid Leukemia Patients: Experience of the PETHEMA Group.

Disease Markers

Castaño-Bonilla, Tamara T; Barragán, Eva E; Sargas, Claudia C; Sanz, Alejandro A; Algarra, Lorenzo L; Herrera-Puente, Pilar P; García-Boyero, Raimundo R; Barrios, Manuel M; Martinez-Cuadron, David D; Rodriguez-Veiga, Rebeca R; Boluda, Blanca B; Gil, Cristina C; Serrano-López, Josefina J; Martínez-López, Joaquín J; Sayas-Lloris, María José MJ; Olave, María Teresa MT; Riaza-Grau, Rosalía R; Castillo, Teresa Bernal-Del TB; Larrayoz, María José MJ; Amigo, Raquel R; Jiménez-Velasco, Antonio A; Sánchez, Joaquín J; Ayala, Rosa R; Blas, Carlos C; Lainez, Daniel D; Serrano-López, Juana J; Sanz, Miguel A MA; Alonso-Domínguez, Juan M JM; Montesinos, Pau P

Publication Date: 2022

Variant appearance in text: CD33: 41C>T; Ala14Val; rs12459419

PubMed Link: 36051360

Variant Present in the following documents:

• DM2022-3132941.pdf

View BVdb publication page

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Alzheimer's Disease Risk Variant rs3865444 in the CD33 Gene: A Possible Role in Susceptibility to Multiple Sclerosis.

Life (Basel, Switzerland)

Javor, Juraj J; Bucová, Mária M; Ďurmanová, Vladimíra V; Radošinská, Dominika D; Párnická, Zuzana Z; Čierny, Daniel D; Kurča, Egon E; Čopíková-Cudráková, Daniela D; Gmitterová, Karin K; Shawkatová, Ivana I

Publication Date: 2022-07-21

Variant appearance in text: rs12459419

PubMed Link: 35888182

Variant Present in the following documents:

• Main text
• life-12-01094.pdf

View BVdb publication page

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Phase 1/2 Trial of CLAG-M with Dose-Escalated Mitoxantrone in Combination with Fractionated-Dose Gemtuzumab Ozogamicin for Newly Diagnosed Acute Myeloid Leukemia and Other High-Grade Myeloid Neoplasms.

Cancers

Godwin, Colin D CD; Rodríguez-Arbolí, Eduardo E; Othus, Megan M; Halpern, Anna B AB; Appelbaum, Jacob S JS; Percival, Mary-Elizabeth M MM; Hendrie, Paul C PC; Oehler, Vivian G VG; Keel, Siobán B SB; Abkowitz, Janis L JL; Cooper, Jason P JP; Cassaday, Ryan D RD; Estey, Elihu H EH; Walter, Roland B RB

Publication Date: 2022-06-14

Variant appearance in text: rs12459419

PubMed Link: 35740603

Variant Present in the following documents:

• Main text
• cancers-14-02934.pdf

View BVdb publication page

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Neuroinflammation as a Potential Therapeutic Target in Alzheimer's Disease.

Clinical Interventions In Aging

Liu, Ping P; Wang, Yunyun Y; Sun, Yan Y; Peng, Guoping G

Publication Date: 2022

Variant appearance in text: rs12459419

PubMed Link: 35520949

Variant Present in the following documents:

• Main text
• cia-17-665.pdf

View BVdb publication page

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CD33 rs2455069 SNP: Correlation with Alzheimer's Disease and Hypothesis of Functional Role.

International Journal Of Molecular Sciences

Tortora, Fabiana F; Rendina, Antonella A; Angiolillo, Antonella A; Di Costanzo, Alfonso A; Aniello, Francesco F; Donizetti, Aldo A; Febbraio, Ferdinando F; Vitale, Emilia E

Publication Date: 2022-03-26

Variant appearance in text: rs12459419

PubMed Link: 35408990

Variant Present in the following documents:

• Main text
• ijms-23-03629.pdf

View BVdb publication page

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Functional insight into LOAD-associated microglial response genes.

Open Biology

Jonas, Lauren A LA; Jain, Tanya T; Li, Yue-Ming YM

Publication Date: 2022-01

Variant appearance in text: rs12459419

PubMed Link: 35078351

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional insight into LOAD-associated microglial response genes.

Open Biology

Jonas, Lauren A LA; Jain, Tanya T; Li, Yue-Ming YM

Publication Date: 2022-01

Variant appearance in text: rs12459419

PubMed Link: 35078351

Variant Present in the following documents:

• Main text

View BVdb publication page

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CD33 Delineates Two Functionally Distinct NK Cell Populations Divergent in Cytokine Production and Antibody-Mediated Cellular Cytotoxicity.

Frontiers In Immunology

Hejazi, Maryam M; Zhang, Congcong C; Bennstein, Sabrina B SB; Balz, Vera V; Reusing, Sarah B SB; Quadflieg, Melissa M; Hoerster, Keven K; Heinrichs, Stefan S; Hanenberg, Helmut H; Oberbeck, Sebastian S; Nitsche, Marcus M; Cramer, Sophie S; Pfeifer, Rita R; Oberoi, Pranav P; Rühl, Heiko H; Oldenburg, Johannes J; Brossart, Peter P; Horn, Peter A PA; Babor, Florian F; Wels, Winfried S WS; Fischer, Johannes C JC; Möker, Nina N; Uhrberg, Markus M

Publication Date: 2021

Variant appearance in text: rs12459419

PubMed Link: 35058934

Variant Present in the following documents:

• Main text
• fimmu-12-798087.pdf

View BVdb publication page

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Genomics and Functional Genomics of Alzheimer's Disease.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Kamboh, M Ilyas MI

Publication Date: 2022-01

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 34935119

Variant Present in the following documents:

• Main text
• 13311_2021_Article_1152.pdf

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: CD33: A14V

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1

View BVdb publication page

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Management of Acute Myeloid Leukemia: Current Treatment Options and Future Perspectives.

Cancers

Fleischmann, Maximilian M; Schnetzke, Ulf U; Hochhaus, Andreas A; Scholl, Sebastian S

Publication Date: 2021-11-16

Variant appearance in text: rs12459419

PubMed Link: 34830877

Variant Present in the following documents:

• Main text
• cancers-13-05722.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: CD33: A14V; rs12459419

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: CD33: A14V; rs12459419

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology

Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K

Publication Date: 2021-09-27

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 34580418

Variant Present in the following documents:

• 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Therapeutic Targeting of Acute Myeloid Leukemia by Gemtuzumab Ozogamicin.

Cancers

Gottardi, Michele M; Simonetti, Giorgia G; Sperotto, Alessandra A; Nappi, Davide D; Ghelli Luserna di Rorà, Andrea A; Padella, Antonella A; Norata, Marianna M; Giannini, Maria Benedetta MB; Musuraca, Gerardo G; Lanza, Francesco F; Cerchione, Claudio C; Martinelli, Giovanni G

Publication Date: 2021-09-11

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 34572794

Variant Present in the following documents:

• Main text
• cancers-13-04566.pdf

View BVdb publication page

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Pseudogene-Mediated Gene Conversion After CRISPR-Cas9 Editing Demonstrated by Partial CD33 Conversion with SIGLEC22P.

The Crispr Journal

Shaw, Benjamin C BC; Estus, Steven S

Publication Date: 2021-10

Variant appearance in text: rs12459419

PubMed Link: 34558988

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic preclinical evaluation of CD33-directed chimeric antigen receptor T cell immunotherapy for acute myeloid leukemia defines optimized construct design.

Journal For Immunotherapy Of Cancer

Qin, Haiying H; Yang, Lila L; Chukinas, John A JA; Shah, Nirali N; Tarun, Samiksha S; Pouzolles, Marie M; Chien, Christopher D CD; Niswander, Lisa M LM; Welch, Anthony R AR; Taylor, Naomi N; Tasian, Sarah K SK; Fry, Terry J TJ

Publication Date: 2021-09

Variant appearance in text: rs12459419

PubMed Link: 34531250

Variant Present in the following documents:

• Main text
• jitc-2021-003149.pdf

View BVdb publication page

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Probability of Alzheimer's disease based on common and rare genetic variants.

Alzheimer'S Research & Therapy

Escott-Price, Valentina V; Schmidt, Karl Michael KM

Publication Date: 2021-08-17

Variant appearance in text: rs12459419

PubMed Link: 34404470

Variant Present in the following documents:

• 13195_2021_884_MOESM1_ESM.pdf

View BVdb publication page

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Heterogeneous effects of genetic risk for Alzheimer's disease on the phenome.

Translational Psychiatry

Wu, Hei Man HM; Goate, Alison M AM; O'Reilly, Paul F PF

Publication Date: 2021-07-23

Variant appearance in text: rs12459419

PubMed Link: 34301914

Variant Present in the following documents:

• Main text
• 41398_2021_Article_1518.pdf

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: CD33: A14V

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5

View BVdb publication page

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Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.

Nature Neuroscience

Yang, Chengran C; Farias, Fabiana H G FHG; Ibanez, Laura L; Suhy, Adam A; Sadler, Brooke B; Fernandez, Maria Victoria MV; Wang, Fengxian F; Bradley, Joseph L JL; Eiffert, Brett B; Bahena, Jorge A JA; Budde, John P JP; Li, Zeran Z; Dube, Umber U; Sung, Yun Ju YJ; Mihindukulasuriya, Kathie A KA; Morris, John C JC; Fagan, Anne M AM; Perrin, Richard J RJ; Benitez, Bruno A BA; Rhinn, Herve H; Harari, Oscar O; Cruchaga, Carlos C

Publication Date: 2021-09

Variant appearance in text: CD33: A14V

PubMed Link: 34239129

Variant Present in the following documents:

• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 4
• NIHMS1711548-supplement-supTables1to35.xlsx, sheet 5

View BVdb publication page

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Analysis of Genetic Variants Associated with Levels of Immune Modulating Proteins for Impact on Alzheimer's Disease Risk Reveal a Potential Role for SIGLEC14.

Genes

Shaw, Benjamin C BC; Katsumata, Yuriko Y; Simpson, James F JF; Fardo, David W DW; Estus, Steven S

Publication Date: 2021-06-30

Variant appearance in text: rs12459419

PubMed Link: 34208838

Variant Present in the following documents:

• Main text

View BVdb publication page

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CD33 Expression and Gentuzumab Ozogamicin in Acute Myeloid Leukemia: Two Sides of the Same Coin.

Cancers

Molica, Matteo M; Perrone, Salvatore S; Mazzone, Carla C; Niscola, Pasquale P; Cesini, Laura L; Abruzzese, Elisabetta E; de Fabritiis, Paolo P

Publication Date: 2021-06-28

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 34203180

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reporter cell assay for human CD33 validated by specific antibodies and human iPSC-derived microglia.

Scientific Reports

Wißfeld, Jannis J; Mathews, Mona M; Mossad, Omar O; Picardi, Paola P; Cinti, Alessandro A; Redaelli, Loredana L; Pradier, Laurent L; Brüstle, Oliver O; Neumann, Harald H

Publication Date: 2021-06-29

Variant appearance in text: rs12459419

PubMed Link: 34188106

Variant Present in the following documents:

• Main text
• 41598_2021_Article_92434.pdf

View BVdb publication page

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Time to reconsider CD33 single nucleotide polymorphism in the response to gemtuzumab ozogamicin.

Haematologica

Lamba, Jatinder K JK; Meshinchi, Soheil S

Publication Date: 2021-11-01

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 34092060

Variant Present in the following documents:

• Main text
• 1062796.pdf

View BVdb publication page

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A map of transcriptional heterogeneity and regulatory variation in human microglia.

Nature Genetics

Young, Adam M H AMH; Kumasaka, Natsuhiko N; Calvert, Fiona F; Hammond, Timothy R TR; Knights, Andrew A; Panousis, Nikolaos N; Park, Jun Sung JS; Schwartzentruber, Jeremy J; Liu, Jimmy J; Kundu, Kousik K; Segel, Michael M; Murphy, Natalia A NA; McMurran, Christopher E CE; Bulstrode, Harry H; Correia, Jason J; Budohoski, Karol P KP; Joannides, Alexis A; Guilfoyle, Mathew R MR; Trivedi, Rikin R; Kirollos, Ramez R; Morris, Robert R; Garnett, Matthew R MR; Timofeev, Ivan I; Jalloh, Ibrahim I; Holland, Katherine K; Mannion, Richard R; Mair, Richard R; Watts, Colin C; Price, Stephen J SJ; Kirkpatrick, Peter J PJ; Santarius, Thomas T; Mountjoy, Edward E; Ghoussaini, Maya M; Soranzo, Nicole N; Bayraktar, Omer A OA; Stevens, Beth B; Hutchinson, Peter J PJ; Franklin, Robin J M RJM; Gaffney, Daniel J DJ

Publication Date: 2021-06

Variant appearance in text: rs12459419

PubMed Link: 34083789

Variant Present in the following documents:

• Main text

View BVdb publication page

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A map of transcriptional heterogeneity and regulatory variation in human microglia.

Nature Genetics

Young, Adam M H AMH; Kumasaka, Natsuhiko N; Calvert, Fiona F; Hammond, Timothy R TR; Knights, Andrew A; Panousis, Nikolaos N; Park, Jun Sung JS; Schwartzentruber, Jeremy J; Liu, Jimmy J; Kundu, Kousik K; Segel, Michael M; Murphy, Natalia A NA; McMurran, Christopher E CE; Bulstrode, Harry H; Correia, Jason J; Budohoski, Karol P KP; Joannides, Alexis A; Guilfoyle, Mathew R MR; Trivedi, Rikin R; Kirollos, Ramez R; Morris, Robert R; Garnett, Matthew R MR; Timofeev, Ivan I; Jalloh, Ibrahim I; Holland, Katherine K; Mannion, Richard R; Mair, Richard R; Watts, Colin C; Price, Stephen J SJ; Kirkpatrick, Peter J PJ; Santarius, Thomas T; Mountjoy, Edward E; Ghoussaini, Maya M; Soranzo, Nicole N; Bayraktar, Omer A OA; Stevens, Beth B; Hutchinson, Peter J PJ; Franklin, Robin J M RJM; Gaffney, Daniel J DJ

Publication Date: 2021-06

Variant appearance in text: rs12459419

PubMed Link: 34083789

Variant Present in the following documents:

• Main text

View BVdb publication page

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SIGLEC-3 (CD33) serves as an immune checkpoint receptor for HBV infection.

The Journal Of Clinical Investigation

Tsai, Tsung-Yu TY; Huang, Ming-Ting MT; Sung, Pei-Shan PS; Peng, Cheng-Yuan CY; Tao, Mi-Hua MH; Yang, Hwai-I HI; Chang, Wei-Chiao WC; Yang, An-Suei AS; Yu, Chung-Ming CM; Lin, Ya-Ping YP; Bau, Ching-Yu CY; Huang, Chih-Jen CJ; Pan, Mei-Hung MH; Wu, Chung-Yi CY; Hsiao, Chwan-Deng CD; Yeh, Yi-Hung YH; Duan, Shiteng S; Paulson, James C JC; Hsieh, Shie-Liang SL

Publication Date: 2021-06-01

Variant appearance in text: rs12459419

PubMed Link: 34060491

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: CD33: 41C>T; Ala14Val; rs12459419

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Cluster of differentiation 33 single nucleotide polymorphism rs12459419 is a predictive factor in patients with nucleophosmin1-mutated acute myeloid leukemia receiving gemtuzumab ozogamicin.

Haematologica

Teich, Katrin K; Krzykalla, Julia J; Kapp-Schwoerer, Silke S; Gaidzik, Verena I VI; Schlenk, Richard F RF; Paschka, Peter P; Weber, Daniela D; Fiedler, Walter W; Kühn, Michael W M MWM; Schroeder, Thomas T; Mayer, Karin K; Lübbert, Michael M; Ramachandran, Dhanya D; Benner, Axel A; Ganser, Arnold A; Döhner, Hartmut H; Heuser, Michael M; Döhner, Konstanze K; Thol, Felicitas F

Publication Date: 2021-11-01

Variant appearance in text: CD33: 41C>T; Ala14Val; rs12459419

PubMed Link: 34047179

Variant Present in the following documents:

• Main text

View BVdb publication page

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T cell engaging bispecific antibodies targeting CD33 IgV and IgC domains for the treatment of acute myeloid leukemia.

Journal For Immunotherapy Of Cancer

Hoseini, Sayed Shahabuddin SS; Vadlamudi, Mallika M; Espinosa-Cotton, Madelyn M; Tran, Hoa H; Feng, Yi Y; Guo, Hong-Fen HF; Xu, Hong H; Cheung, Irene I; Cheung, Nai-Kong V NV

Publication Date: 2021-05

Variant appearance in text: rs12459419

PubMed Link: 34035113

Variant Present in the following documents:

• Main text
• jitc-2021-002509.pdf

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Integrative Analysis of the Expression of SIGLEC Family Members in Lung Adenocarcinoma via Data Mining.

Frontiers In Oncology

Zhang, Haiyan H; Xie, Yongfei Y; Hu, Zhi Z; Yu, Hong H; Xie, Xiang X; Ye, Yingchun Y; Xu, Wenfeng W; Nian, Siji S; Yuan, Qing Q

Publication Date: 2021

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 33796453

Variant Present in the following documents:

• Main text

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: CD33: 41C>T; A14V; rs12459419

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

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The CD33 short isoform is a gain-of-function variant that enhances Aβ1-42 phagocytosis in microglia.

Molecular Neurodegeneration

Bhattacherjee, Abhishek A; Jung, Jaesoo J; Zia, Sameera S; Ho, Madelene M; Eskandari-Sedighi, Ghazaleh G; St Laurent, Chris D CD; McCord, Kelli A KA; Bains, Arjun A; Sidhu, Gaurav G; Sarkar, Susmita S; Plemel, Jason R JR; Macauley, Matthew S MS

Publication Date: 2021-03-25

Variant appearance in text: rs12459419

PubMed Link: 33766097

Variant Present in the following documents:

• Main text
• 13024_2021_Article_443.pdf

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Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.

Nature Genetics

Schwartzentruber, Jeremy J; Cooper, Sarah S; Liu, Jimmy Z JZ; Barrio-Hernandez, Inigo I; Bello, Erica E; Kumasaka, Natsuhiko N; Young, Adam M H AMH; Franklin, Robin J M RJM; Johnson, Toby T; Estrada, Karol K; Gaffney, Daniel J DJ; Beltrao, Pedro P; Bassett, Andrew A

Publication Date: 2021-03

Variant appearance in text: CD33: Ala14Val; rs12459419

PubMed Link: 33589840

Variant Present in the following documents:

• Main text

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Targeting the membrane-proximal C2-set domain of CD33 for improved CD33-directed immunotherapy.

Leukemia

Godwin, Colin D CD; Laszlo, George S GS; Fiorenza, Salvatore S; Garling, Eliotte E EE; Phi, Tinh-Doan TD; Bates, Olivia M OM; Correnti, Colin E CE; Hoffstrom, Benjamin G BG; Lunn, Margaret C MC; Humbert, Olivier O; Kiem, Hans-Peter HP; Turtle, Cameron J CJ; Walter, Roland B RB

Publication Date: 2021-09

Variant appearance in text: rs12459419

PubMed Link: 33589747

Variant Present in the following documents:

• Main text

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The role of innate immune genes in Alzheimer's disease.

Current Opinion In Neurology

Griciuc, Ana A; Tanzi, Rudolph E RE

Publication Date: 2021-04-01

Variant appearance in text: rs12459419

PubMed Link: 33560670

Variant Present in the following documents:

• Main text
• coneu-34-228.pdf

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