|
Hemangiosarcoma
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
In one case, we identified a mutation in PLCG1 identical to a mutation observed previously in this gene in human visceral AS.
|
29190660 |
2017 |
|
Hemangiosarcoma
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
The genetic bases of these tumors have been partially revealed in recent studies reporting genetic alterations such as amplifications of MYC (primarily in radiation-associated angiosarcomas), inactivating mutations in PTPRB and R707Q hotspot mutations of PLCG1.
|
26440310 |
2015 |
|
Hemangiosarcoma
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
A recurrent activating PLCG1 mutation in cardiac angiosarcomas increases apoptosis resistance and invasiveness of endothelial cells.
|
25252913 |
2014 |
|
Hemangiosarcoma
|
0.550 |
Biomarker
|
disease |
CTD_human |
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
|
24633157 |
2014 |
|
Hemangiosarcoma
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Recurrent PTPRB and PLCG1 mutations in angiosarcoma.
|
24633157 |
2014 |
|
Hemangiosarcoma
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Recurrent mutations in PTPRB and PLCG1 were identified in angiosarcomas.
|
24795022 |
2014 |
|
Hemangiosarcoma
|
0.550 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL.
|
31376383 |
2020 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
Recent evidence suggests that disturbances in specific intracellular signalling pathways, such as RAS-mitogen-activated protein kinase, T-cell receptor (TCR)-phospholipase C gamma 1 (PLCG1)-nuclear factor of activated T cells (NFAT) and Janus kinase (JAK)-signal transducer and activator of transcription (STAT), may play an essential role in the pathogenesis of CTCL.
|
31049933 |
2020 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
Biomarker
|
disease |
BEFREE |
Subsequently, 13 hub genes including CFLAR, GCNT2, IFNG, IL17A, IL22, MIP, PLCG1, PTH, PTPN6, REG1A, SNAP25, SUPT7L, and TP63 were shown to be related to cutaneous T-cell lymphoma (CTCL) and adult T-cell lymphoma/leukemia (ATLL).In summary, in addition to the reported genes (IL17F, PLCG1, IFNG, and PTH) in CTCL/ATLL, the other high instable genes may serve as novel biomarkers for the regulation of the biological processes and molecular mechanisms of CTLT (MF/SS).
|
29794791 |
2018 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
Biomarker
|
disease |
CTD_human |
Genomic landscape of cutaneous T cell lymphoma.
|
26192916 |
2015 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
This new study finds that only 3-5% of the CTCL tumor genomes (mycosis fungoides and Sézary syndrome) harbor PLCG1 mutations.
|
26269406 |
2015 |
|
Lymphoma, T-Cell, Cutaneous
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Thus, increased proliferative and survival mechanisms in CTCL may partially depend on the acquisition of somatic mutations in PLCG1 and other genes that are essential for normal T-cell differentiation.
|
24497536 |
2014 |
|
Sezary Syndrome
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
This study functionally interrogated nine PLCG1 mutations (p.R48W, p.S312L, p.D342N, p.S345F, p.S520F, p.R1158H, p.E1163K, p.D1165H, and the in-frame indel p.VYEEDM1161V) identified in Sézary Syndrome, the leukemic variant of CTCL.
|
31376383 |
2020 |
|
Sezary Syndrome
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PLCG1 were detected in 11% of tumors including novel variants not previously described in SS.
|
27121473 |
2016 |
|
Sezary Syndrome
|
0.320 |
Biomarker
|
disease |
CTD_human |
Genomic profiling of Sézary syndrome identifies alterations of key T cell signaling and differentiation genes.
|
26551670 |
2015 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.310 |
Biomarker
|
disease |
BEFREE |
Subsequently, 13 hub genes including CFLAR, GCNT2, IFNG, IL17A, IL22, MIP, PLCG1, PTH, PTPN6, REG1A, SNAP25, SUPT7L, and TP63 were shown to be related to cutaneous T-cell lymphoma (CTCL) and adult T-cell lymphoma/leukemia (ATLL).In summary, in addition to the reported genes (IL17F, PLCG1, IFNG, and PTH) in CTCL/ATLL, the other high instable genes may serve as novel biomarkers for the regulation of the biological processes and molecular mechanisms of CTLT (MF/SS).
|
29794791 |
2018 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.310 |
Biomarker
|
disease |
CTD_human |
Integrated molecular analysis of adult T cell leukemia/lymphoma.
|
26437031 |
2015 |
|
Bipolar Disorder
|
0.310 |
Biomarker
|
disease |
PSYGENET |
The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism.
|
11409699 |
2001 |
|
Bipolar Disorder
|
0.310 |
Biomarker
|
disease |
BEFREE |
The phospholipase C-gamma1 gene (PLCG1) and lithium-responsive bipolar disorder: re-examination of an intronic dinucleotide repeat polymorphism.
|
11409699 |
2001 |
|
Granulomatous Slack Skin
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genomic landscape of cutaneous T cell lymphoma.
|
26192916 |
2015 |
|
Diabetes Mellitus, Experimental
|
0.200 |
Biomarker
|
disease |
RGD |
Protein kinase C-gamma activation in the early streptozotocin diabetic rat lens.
|
17612968 |
2007 |
|
Polycystic Kidney Diseases
|
0.200 |
Biomarker
|
group |
RGD |
Overexpression of kidney phosphatidylinositol 4-kinasebeta and phospholipase C(gamma1) proteins in two rodent models of polycystic kidney disease.
|
12009430 |
2002 |
|
Malignant Neoplasms
|
0.160 |
Biomarker
|
group |
BEFREE |
The enzyme phospholipase C gamma 1 (PLCγ1) has been identified as a potential drug target of interest for various pathological conditions such as immune disorders, systemic lupus erythematosus, and cancers.
|
31548507 |
2019 |
|
Malignant Neoplasms
|
0.160 |
Biomarker
|
group |
BEFREE |
Phospholipase Cγ1 links inflammation and tumorigenesis in colitis-associated cancer.
|
29464031 |
2018 |