PLCG1 mutations in cutaneous T-cell lymphomas
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Key Points: Activating mutations in PLCG1 are a frequent finding in tumoral CTCL samples. This raises the possibility of targeted therapies against PLCG1 signaling pathway, using calcineurin inhibitors.
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PLCG1 is ubiquitously distributed, and its mutations are associated with some cancers and neuropsychiatric disorders.
“PLCG1 is ubiquitously distributed, and mutations are associated with some forms of cancers, such as cutaneous T cell lymphoma [8, 9], but also neuropsychiatric disorders [10].”
From Alzheimer’s disease phospholipase C-gamma-2 (PLCG2) protective variant is a functional hypermorph (2019) · cites this paper as [9]
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References 50 · Cited by 229
- Authors
- Vaqué, J. P., Gómez-López, G., Monsálvez, V., Varela, I., Martínez, N., Pérez, C., Domínguez, O., Graña, O., Rodríguez-Peralto, J. L., Rodríguez-Pinilla, S. M., González-Vela, C., Rubio-Camarillo, M., Martín-Sánchez, E., Pisano, D. G., Papadavid, E., Papadaki, T., Requena, L., García-Marco, J. A., Méndez, M., Provencio, M., Hospital, M., Suárez-Massa, D., Postigo, C., San Segundo, D., López-Hoyos, M., Ortiz-Romero, P. L., Piris, M. A., & Sánchez-Beato, M.
- Affiliations
- Instituto Formación Investigación Hospital Universitario Marqués de Valdecilla, Santander, Spain;
- Spanish National Cancer Research Center, Madrid, Spain;
- Research Institute Hospital 12 de Octubre (ES)
- Instituto de Biomedicina y Biotecnología de Cantabria (ES)
- Marqués de Valdecilla University Hospital (ES)
- Instituto I+12, Hospital Universitario 12 de Octubre, Madrid, Spain;
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Hospital Universitario Marqués de Valdecilla, Santander, Spain;
- Spanish National Cancer Research Centre (ES)
- National and Kapodistrian University of Athens (GR)
- Evangelismos Hospital (GR)
- Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain; and
- Hospital Universitario Puerta de Hierro Majadahonda (ES)
- Instituto Investigación Sanitaria Puerta de Hierro, Madrid, Spain
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2014-03-27
- Volume
- 123
- Issue
- 13
- Pages
- 2034-2043
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W1995040281
- Cited by
- 229
- References
- 50
- Citations by year
- 2026: 10 · 2025: 11 · 2024: 12 · 2023: 20 · 2022: 19 · 2021: 19 · 2020: 23 · 2019: 16 · 2018: 16 · 2017: 19 · 2016: 28 · 2015: 27 · 2014: 9
- FWCI
- 30.40
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- cc-by
- Locations
- Blood (publishedVersion)
- PubMed (publishedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- Zenodo (CERN European Organization for Nuclear Research) (submittedVersion, cc-by)
- Topics
- Health Sciences › Medicine › Dermatology › Cutaneous lymphoproliferative disorders research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Lymphoma Diagnosis and Treatment
- Life Sciences › Immunology and Microbiology › Immunology › T-cell and Retrovirus Studies
- Keywords
- cutaneous T-cell lymphoma, mycosis fungoides, Sézary syndrome, T cell receptor signaling, NFAT activation, NF-κB signaling, JAK/STAT signaling, somatic mutations, tumor cell proliferation, cell viability
- MeSH terms
- Animals, Cell Survival, DNA Mutational Analysis, Female, Humans, Male, Mutation, Skin Neoplasms, Cohort Studies, Lymphoma, T-Cell, NIH 3T3 Cells, Cell Line, Tumor, Mice, Phospholipase C gamma, High-Throughput Nucleotide Sequencing
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