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Decreased adhesiveness and expression of adhesion molecules E-cadherin, beta4-integrin and gamma-catenin, together with resistance to detachment and drug-induced apoptosis and upregulation of Bcl-2 were integral to the development of CTC and their survival. | NA | {
"id": 128408,
"name": "BHLHE23",
"pos": [
72,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
41,
8
]
} |
An important SF-1 target for male sexual differentiation is the gene encoding the Müllerian-inhibiting substance hormone that induces regression of the Müllerian ducts in the developing male embryo. | NA | {
"id": 2516,
"name": "NR5A1",
"pos": [
13,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
134,
10
]
} |
The data obtained from this study will help clinicians provide counseling on visual prognosis to patients with known mutations in LCA genes and be of value in future studies aimed at the treatment of LCA and early childhood-onset RP. | genomic_alterations | {
"id": 5788,
"name": "PTPRC",
"pos": [
130,
3
]
} | {
"id": "C0035334",
"name": "Retinitis Pigmentosa",
"pos": [
230,
2
]
} |
The expression of RAP1GAP in bone marrow cells of 19 MDS patients was detected by flow cytometry and was compared with that in patients with non-malignant blood diseases and acute leukemias, meanwhile the relevance between expression level of RAP1GAP and hemoglobin, leukocytes, platelets, blasts percentage in bone marrow cells and IPSS score was analyzed. | NA | {
"id": 5909,
"name": "RAP1GAP",
"pos": [
243,
7
]
} | {
"id": "C0018939",
"name": "Hematological Disease",
"pos": [
155,
14
]
} |
Fusion of ZMYND8 and RELA genes in acute erythroid leukemia. | biomarker | {
"id": 23613,
"name": "ZMYND8",
"pos": [
10,
6
]
} | {
"id": "C1332937",
"name": "Childhood Acute Erythroid Leukemia",
"pos": [
35,
24
]
} |
We here report that human malignant glioma cell lines express neuropilins 1 and 2 mRNA and protein, as well as either plexin A1, A2, or B1. | NA | {
"id": 5361,
"name": "PLXNA1",
"pos": [
118,
9
]
} | {
"id": "C0555198",
"name": "Malignant Glioma",
"pos": [
26,
16
]
} |
This longitudinal MRI study establishes unequivocally that, in the experimental murine model of ALS, muscle degeneration occurs before any evidence of neurodegeneration and clinical signs, supporting the postulate that motor neuron disease can initiate from muscle damage and result from retrograde dying-back of the motor neurons. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
18,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
151,
17
]
} |
Recent study also revealed that CAPE has several biological activities including antioxidation, anti-inflammation and inhibition of tumor growth. | NA | {
"id": 10592,
"name": "SMC2",
"pos": [
32,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
101,
12
]
} |
Induction of miR-200c by SFN prevents epithelial-mesenchymal-transition and could be relevant for prevention of metastases. | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
25,
3
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
112,
10
]
} |
In cystic fibrosis (CF), the airway surface liquid (ASL) height is reduced as a result of impaired ion transport, which favors bacterial colonization and inflammation of the airway and leads to progressive lung destruction. | NA | {
"id": 435,
"name": "ASL",
"pos": [
52,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
154,
12
]
} |
An association with severe nephritis was even more striking (MAF = 39.2%, OR = 2.35, p<10(-4) in the homogeneous subset of subjects). | NA | {
"id": 4094,
"name": "MAF",
"pos": [
61,
3
]
} | {
"id": "C0027697",
"name": "Nephritis",
"pos": [
27,
9
]
} |
Further studies are needed to determine the detailed molecular and cellular mechanisms by which constitutional haploinsufficiency of ARID1B causes syndromic and non-syndromic developmental disabilities. | genomic_alterations | {
"id": 57492,
"name": "ARID1B",
"pos": [
133,
6
]
} | {
"id": "C0008073",
"name": "Developmental Disabilities",
"pos": [
175,
26
]
} |
Protease-activated receptor 2 (PAR2), a G protein-coupled receptor for trypsin, contributes to growth, anti-apoptosis, and migration in lung cancer. | biomarker | {
"id": 10663,
"name": "CXCR6",
"pos": [
40,
26
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
136,
11
]
} |
]; metabolic syndrome (World Health Organization criteria); thrombophilia (factor V Leiden, prothrombin mutation, or protein C or S deficiency); and hyperhomocysteinemia. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
117,
9
]
} | {
"id": "C0524620",
"name": "Metabolic Syndrome X",
"pos": [
3,
18
]
} |
We have identified a common (34%) somatic mutation in the estrogen receptor (ER)-alpha gene in a series of 59 typical hyperplasias, a type of early premalignant breast lesion. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
81,
10
]
} | {
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
34,
16
]
} |
TREM-1 associated with DAP12 in hypoxic mDCs, and its engagement elicited DAP12-linked signaling, resulting in ERK-1, Akt, and IκBα phosphorylation and proinflammatory cytokine and chemokine secretion. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
127,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
32,
7
]
} |
Some of the most upregulated genes, including S100a8-9, Nos2, and Lcn2, were shared by the colitis models and correlated with disease activity. | NA | {
"id": 339345,
"name": "NANOS2",
"pos": [
56,
4
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
91,
7
]
} |
The expression of the transcription factor, hypoxia-inducible factor-1α (HIF-1α), is mainly induced by hypoxia and is known for its ability to induce proliferative and transformative changes in cells; its expression has been shown to correlate with tumor invasion and metastasis. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
73,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
103,
7
]
} |
One class of RAGE ligands includes glycoxidation products, termed advanced glycation end products, which occur in diabetes, at sites of oxidant stress in tissues, and in renal failure and amyloidoses. | biomarker | {
"id": 177,
"name": "AGER",
"pos": [
13,
4
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
188,
11
]
} |
The exaggerated BPD-like phenotype observed in hyperoxia-exposed LysM-Cre/Foxm1(-/-) mice was associated with increased expression of neutrophil-derived myeloperoxidase, proteinase 3, and cathepsin g, all of which are critical for lung remodeling and inflammation. | NA | {
"id": 2305,
"name": "FOXM1",
"pos": [
74,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
251,
12
]
} |
The results obtained with the Cdkn2a and Rb genes suggest that alterations in the Rb regulatory axis may play a key role in the pathogenesis of the pulmonary tumors and appear to occur later in the neoplastic process. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
30,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
158,
6
]
} |
FLG mutations R501X, 2282del4 and R2447X were genotyped in the Prevention and Incidence of Asthma and Mite Allergy birth cohort (n = 934) to evaluate longitudinally, for up to 8 years, their association with eczema, sensitization, asthma, hay fever and their interaction with cat exposure. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
1,
3
]
} | {
"id": "C0264411",
"name": "Hay fever with asthma",
"pos": [
232,
11
]
} |
As a quintessential chromosomal translocation gene product, LMO2 has many properties that typify this class of molecule. | NA | {
"id": 4005,
"name": "LMO2",
"pos": [
60,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
20,
25
]
} |
An essential component of regulated steroidogenesis is the translocation of cholesterol from the cytoplasm to the inner mitochondrial membrane where the cholesterol side-chain cleavage enzyme carries out the first committed step in steroidogenesis. | NA | {
"id": 1583,
"name": "CYP11A1",
"pos": [
153,
38
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
59,
13
]
} |
Transcriptome analysis of CD4+ effector memory T cells from lamina propria mononuclear cells of CD patients revealed a significant association of rs488200 with RAP1A expression. | genomic_alterations | {
"id": 5906,
"name": "RAP1A",
"pos": [
160,
5
]
} | {
"id": "C0018553",
"name": "Hamartoma Syndrome, Multiple",
"pos": [
96,
2
]
} |
Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1.1), are associated with genetic forms of epilepsy, including generalized epilepsy with febrile seizures plus (GEFS+ type 2), severe myoclonic epilepsy of infancy (SMEI) and related conditions. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
13,
5
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
143,
8
]
} |
Functional enrichment analysis revealed keratinization and differentiation as the most affected biological processes and identified IL-1 cytokines and serine peptidase inhibitors as the most dysregulated esophagus-specific protein families in patients with EoE. | biomarker | {
"id": 3552,
"name": "IL1A",
"pos": [
132,
4
]
} | {
"id": "C0341106",
"name": "Eosinophilic esophagitis",
"pos": [
257,
3
]
} |
Granulomas were not related to age, sex, ethnicity, weight and height z scores, hemoglobin, C-reactive protein, erythrocyte sedimentation rate, CARD15/NOD2 mutations, abdominal surgery, or stricturing or fistulizing disease. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
92,
18
]
} | {
"id": "C1619634",
"name": "erythrocyte sedimentation rate result",
"pos": [
112,
30
]
} |
Primary laryngeal SCC p27 reactivity and MIB-1 reactivity were immunohistochemically tested and evaluated by a workstation image analysis system. | biomarker | {
"id": 5715,
"name": "PSMD9",
"pos": [
22,
3
]
} | {
"id": "C0280324",
"name": "Laryngeal Squamous Cell Carcinoma",
"pos": [
18,
3
]
} |
The mRNA expression of luteinizing hormone (LH)/human chorionic gonadotropin (hCG) receptors was analysed by the RT-nested PCR method in five normal ovarian tissues, 62 ovarian tumours (5 benign, 7 borderline and 43 malignant epithelial tumours, 3 sex cord-stromal tumours and 4 germ cell tumours) and in 2 ovarian cancer cell lines. | biomarker | {
"id": 93659,
"name": "CGB5",
"pos": [
78,
3
]
} | {
"id": "C0879615",
"name": "Stromal Neoplasm",
"pos": [
257,
15
]
} |
However, new perspectives are still needed to understand IL-22-pSTAT3 signaling for effective clinical interventions in IBD patients. | biomarker | {
"id": 50616,
"name": "IL22",
"pos": [
57,
5
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
120,
3
]
} |
Recombinant OPN was found to induce translocation of p65 into the nucleus of HCC cells and activation of MMP-2 and MEK/ERK/1/2, which were suppressed by the nuclear factor kappaB (NF-kappaB) inhibitor pyrrolidine dithiocarbamate. | NA | {
"id": 6696,
"name": "SPP1",
"pos": [
12,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
36,
13
]
} |
We investigated the role of SLC11A1 (NRAMP1) in Buruli ulcer because of its associations with both tuberculosis and leprosy. | NA | {
"id": 6556,
"name": "SLC11A1",
"pos": [
37,
6
]
} | {
"id": "C0041582",
"name": "Ulcer",
"pos": [
55,
5
]
} |
In contrast, the role of CD4(+) T-helper cells in human infection and in cancer immunity has yet to be clearly defined. | NA | {
"id": 920,
"name": "CD4",
"pos": [
26,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
74,
6
]
} |
We applied PRA to 278 MAC isolates, including 126 from blood of human immunodeficiency virus (HIV)-infected patients, 59 from sputum of HIV-negative patients with chronic obstructive pulmonary disease, 88 from environmental sources, and 5 pulmonary isolates from a different study. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
11,
3
]
} | {
"id": "C0024117",
"name": "Chronic Obstructive Airway Disease",
"pos": [
163,
37
]
} |
These results suggest a role for SYT IV in human brain function and in human neurological disease. | NA | {
"id": 6760,
"name": "SS18",
"pos": [
33,
3
]
} | {
"id": "C0027765",
"name": "nervous system disorder",
"pos": [
77,
20
]
} |
Patients with HER2-positive breast tumors (HER2 score of 3+ by immunohistochemistry or positive for HER2 amplification by fluorescence in situ hybridization (FISH)) (n = 86) and with HER2-negative breast tumors (n = 40) (negative controls) were included in this study. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
158,
4
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
197,
13
]
} |
Antisense to VKOR gene inhibited the proliferation (by 67%), migration (by 64%), adhesion (by 50%), and tubular network formation. | NA | {
"id": 79001,
"name": "VKORC1",
"pos": [
13,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
81,
8
]
} |
Moreover, the Patz1-null mice showed a general growth retardation, which was consistent with the slower growth rate and the increased susceptibility to senescence of Patz1(-/-) mouse embryonic fibroblasts (MEFs) compared to wild-type controls. | NA | {
"id": 23598,
"name": "PATZ1",
"pos": [
166,
5
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
47,
18
]
} |
Combined effect of polymorphic GST genes on individual susceptibility to lung cancer. | genomic_alterations | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
31,
3
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
73,
11
]
} |
To test the null hypothesis: Subjects with isolated complete unilateral cleft lip and palate (UCLP) show no differences in overall frequency of tooth agenesis (hypodontia), comparing a subsample with cleft-side maxillary lateral incisor (MxI2) agenesis to a subsample without cleft-side MxI2 agenesis. | NA | {
"id": 1432,
"name": "MAPK14",
"pos": [
287,
4
]
} | {
"id": "C0158651",
"name": "Cleft lip, unilateral, complete",
"pos": [
52,
29
]
} |
This interaction between EWSR1/FLI1 and EWSR1 in Ewing sarcoma may induce mitotic defects leading to genomic instability and subsequent malignant transformation. | NA | {
"id": 2313,
"name": "FLI1",
"pos": [
31,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
101,
19
]
} |
Among the candidate genes in this region for asthma is neuronal nitric oxide synthase (NOS1). | NA | {
"id": 340719,
"name": "NANOS1",
"pos": [
87,
4
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
45,
6
]
} |
After adjusting for age, smoking, CFH Y402H, LOC387715 A69S, and CFB R32Q, the effect of R102G remained strong [P = 0.015, odds ratio = 1.55, 95% confidence interval 1.09 to 2.21, adjusted PAR(population attributable risk) = 0.17]. | NA | {
"id": 10899,
"name": "JTB",
"pos": [
189,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
25,
7
]
} |
The results presented here show that activation of cell-surface CD74, expressed at high levels from an early stage of the disease by its natural ligand, macrophage migration-inhibition factor (MIF), initiates a signaling cascade that contributes to tumor progression. | NA | {
"id": 268,
"name": "AMH",
"pos": [
193,
3
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
249,
17
]
} |
Impact of glutathione S-transferase M1 and T1 gene polymorphisms on the smoking-related coronary artery disease. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
10,
28
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
72,
7
]
} |
The expression of ATAD2B was also studied in human tumors. | NA | {
"id": 54454,
"name": "ATAD2B",
"pos": [
18,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
51,
6
]
} |
In most of sporadic ovarian cancer, variation in the expression of BRCA1 and BRCA2 genes was observed and it could be a consequence of epigenetic modifications. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
67,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
11,
8
]
} |
IGH-BCL2 translocation and CREBBP mutations are early events, whereas MLL2 and TNFSFR14 mutations represent late events during disease evolution. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
0,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
9,
13
]
} |
Muscle glycogen synthase (GYS1) is a key enzyme of non-oxidative pathway of glucose metabolism that has been reported to be related to insulin resistance in non-insulin-dependent diabetic (NIDDM) patients. | NA | {
"id": 2997,
"name": "GYS1",
"pos": [
26,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
135,
18
]
} |
In conclusion, MSDK analysis of HPV16-transduced keratinocytes at different stages of HPV-induced transformation resulted in the identification of novel DNA methylation events, involving FAM19A4, LHX1, NKX2-8, PHACTR3 and PRDM14 genes in cervical carcinogenesis. | NA | {
"id": 151647,
"name": "TAFA4",
"pos": [
187,
7
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
247,
14
]
} |
Patients with CLM who will develop extrahepatic recurrence may be identified with ERCs based on information in the primary tumour. | NA | {
"id": 128822,
"name": "CST9",
"pos": [
14,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
123,
6
]
} |
In addition, in control human patient tissues, optineurin displayed its normal vesicular localization, but in sporadic ALS patient tissues, vesicles were present in a significantly decreased proportion of motor neurons. | NA | {
"id": 10133,
"name": "OPTN",
"pos": [
47,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
110,
8
]
} |
p53-p66(shc)/miR-21-Sod2 signaling is critical for the inhibitory effect of betulinic acid on hepatocellular carcinoma. | NA | {
"id": 57459,
"name": "GATAD2B",
"pos": [
4,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
94,
24
]
} |
Using these markers and the FDA-approved RIPK2 inhibitor Gefitinib, we show that pharmacologic RIPK2 inhibition drastically improves disease in a spontaneous model of Crohn Disease-like ileitis. | NA | {
"id": 8767,
"name": "RIPK2",
"pos": [
41,
5
]
} | {
"id": "C0020877",
"name": "Ileitis",
"pos": [
186,
7
]
} |
We examine the HIC1-SIRT1-p53 alterations in 118 lung cancer patients to define their etiological roles in tumorigenesis. | NA | {
"id": 23411,
"name": "SIRT1",
"pos": [
20,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
107,
13
]
} |
The fibroblast activation protein alpha (FAP) was recently proposed as inflammation-induced protease involved in the process of plaque vulnerability. | NA | {
"id": 2191,
"name": "FAP",
"pos": [
4,
35
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
128,
6
]
} |
Furthermore, cells stably expressing the phyllopod fragment display reduced upregulation of Hif-1alpha protein levels and Hif-1-mediated gene expression under hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
92,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
159,
7
]
} |
The high expression of HSP47 can be detected in the circulatory system of scleroderma patients, indicating that HSP47 may become a pathological marker to assess the progression of scleroderma, and also explain the systemic fibrosis of scleroderma. | NA | {
"id": 871,
"name": "SERPINH1",
"pos": [
23,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
223,
8
]
} |
Combined study of IGH and IGK rearrangement according to BIOMED-2 protocols improves clonality detection rate (up to 25% of cases) in HL, even when working on non-microdissected FFPE tissue. | genomic_alterations | {
"id": 50802,
"name": "IGK",
"pos": [
26,
3
]
} | {
"id": "C0019829",
"name": "Hodgkin Disease",
"pos": [
134,
2
]
} |
We used karyotyping, fluorescence in situ hybridization (FISH), Southern blotting, and RT-PCR in order to analyze prospectively 77 infants (less than 1 year of age) with acute lymphoblastic leukemia for the occurrence of 11q23/MLL rearrangements and/or other cytogenetic abnormalities. | genomic_alterations | {
"id": 4297,
"name": "KMT2A",
"pos": [
227,
3
]
} | {
"id": "C0008626",
"name": "Congenital chromosomal disease",
"pos": [
259,
25
]
} |
Although low levels of antithrombin III (AT III) have been reported in infants with RDS, direct evidence of increased intravascular thrombin formation has been lacking. | genomic_alterations | {
"id": 462,
"name": "SERPINC1",
"pos": [
23,
16
]
} | {
"id": "C0035220",
"name": "Respiratory Distress Syndrome, Newborn",
"pos": [
84,
3
]
} |
-459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy. | genomic_alterations | {
"id": 2705,
"name": "GJB1",
"pos": [
59,
4
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
111,
10
]
} |
Similar results for these secondary outcomes were noted for the comparison between SM-delivered intervention schools and TSM-delivered intervention schools (depression: aMD -1·23 [95% CI -1·91 to -0·55]; bullying: aMD -0·83 [95% CI -1·08 to -0·57]; violence victimisation: OR 0·49 [95% CI 0·35-0·67]; violence perpetration: OR 0·49 [95% CI 0·34-0·71]; attitude towards gender equity: aMD 0·23 [95% CI 0·02-0·44]; and knowledge of reproductive and sexual health: aMD 0·22 [95% CI -0·02 to 0·47]). | biomarker | {
"id": 262,
"name": "AMD1",
"pos": [
169,
6
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
157,
10
]
} |
In univariate analysis, patients who reached a progression end point (n = 65) were significantly older and had higher serum creatinine and proteinuria as well as lower GFR and hemoglobin levels. | NA | {
"id": 9771,
"name": "RAPGEF5",
"pos": [
168,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
139,
11
]
} |
If the estimate that 4% of breast cancer cases are A-T gene carriers is correct, then ATM mutations do not confer clinical radiosensitivity. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
53,
6
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
27,
13
]
} |
The epidermal growth factor receptor (EGFR) has been validated as a therapeutic target in several human tumors, including colorectal cancer (CRC).(1,2) Occupancy of the EGFR with ligand can activate the RAS/RAF/MAPK, STAT, and PI3K/AKT signaling pathways. | genomic_alterations | {
"id": 5894,
"name": "RAF1",
"pos": [
207,
3
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
122,
17
]
} |
These findings demonstrate that extra-hypothalamic CRF1 receptors, rather than those involved in endocrine functions, are involved in binge eating and the crucial role of CRF receptors in CeA. | biomarker | {
"id": 104909134,
"name": "LINC02210-CRHR1",
"pos": [
51,
4
]
} | {
"id": "C0006370",
"name": "Bulimia",
"pos": [
134,
12
]
} |
This review primarily focuses on the prevention of tumorigenesis role of Keap1 through negative regulation of three substrates Nrf2, IKKβ and Bcl-2/Bcl-xL, with emphasis on the recent findings indicating the cancer guarder function of Keap1. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
127,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
51,
13
]
} |
In transiently transfected COS-1 cells, the RD3-fusion protein shows subnuclear localization adjacent to promyelocytic leukemia-gene-product bodies. | NA | {
"id": 343035,
"name": "RD3",
"pos": [
44,
3
]
} | {
"id": "C0023487",
"name": "Acute Promyelocytic Leukemia",
"pos": [
105,
22
]
} |
Indeed, PLCε functions include cell proliferation, apoptosis and malignant transformation. | biomarker | {
"id": 5334,
"name": "PLCL1",
"pos": [
8,
4
]
} | {
"id": "C1608408",
"name": "Malignant transformation",
"pos": [
65,
24
]
} |
These results demonstrate a possible involvement of the CRH system and its significance in carcinogenesis of RCC. | biomarker | {
"id": 1392,
"name": "CRH",
"pos": [
56,
3
]
} | {
"id": "C0279702",
"name": "Conventional (Clear Cell) Renal Cell Carcinoma",
"pos": [
109,
3
]
} |
The BCL10 gene was identified at the breakpoint region of the t(1;14)(p22;q32) translocation in mucosa-associated lymphoid tissue lymphoma. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
70,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
79,
13
]
} |
Genetic alterations of PI3K (phosphoinositide 3-kinase) subunits have been documented in a number of tumor types, with increased PI3K activity linked to gene amplification and mutation of catalytic subunits, as well as mutations of regulatory subunits. | genomic_alterations | {
"id": 5294,
"name": "PIK3CG",
"pos": [
23,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
101,
5
]
} |
Recent GWAS showed the importance of ERAP1 and ERAP2 in several autoimmune diseases, including ankylosing spondylitis, insulin-dependent diabetes mellitus, psoriasis, multiple sclerosis, Crohn's disease. | NA | {
"id": 64167,
"name": "ERAP2",
"pos": [
47,
5
]
} | {
"id": "C0038012",
"name": "Spondylitis",
"pos": [
106,
11
]
} |
A case of lung adenocarcinoma with a concurrent EGFR mutation and ALK rearrangement: A case report and literature review. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
48,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
7,
22
]
} |
Because AngII increases hepatic serum amyloid A (SAA) expression in an IL-6-dependent manner, we treated wild-type mice with rhIL-6 and an SAA1-overexpressing adenovirus; the combination led to a significantly greater increase in SOCS3 and decrease in IRS-1 compared with either rhIL-6 or SAA1 alone. | NA | {
"id": 6288,
"name": "SAA1",
"pos": [
289,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
159,
10
]
} |
Versican is also prominent in advanced lesions of atherosclerosis, at the borders of lipid-filled necrotic cores as well as at the plaque-thrombus interface, suggesting roles in lipid accumulation, inflammation, and thrombosis. | NA | {
"id": 1462,
"name": "VCAN",
"pos": [
0,
8
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
198,
12
]
} |
Inhibition of norepinephrine-induced cardiac hypertrophy in s100beta transgenic mice. | NA | {
"id": 6285,
"name": "S100B",
"pos": [
60,
8
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
37,
19
]
} |
Accumulative evidence suggests that interleukin-12 (IL-12) plays a central role in the Th1 responses and thus participates in the carcinogenesis of human papillomavirus-related cervical cancer. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
87,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
177,
15
]
} |
Global reduction of the epigenetic H3K79 methylation mark and increased chromosomal instability in CALM-AF10-positive leukemias. | NA | {
"id": 8301,
"name": "PICALM",
"pos": [
99,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
72,
23
]
} |
In this study, we examined the polymorphism of TAP1 and TAP2 genes in patients with rheumatoid arthritis (RA). | NA | {
"id": 266629,
"name": "SEC14L3",
"pos": [
56,
4
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
84,
20
]
} |
To evaluate the predictive value of glutathione S-transferase (GST) gene polymorphisms for the prognosis of osteosarcoma patients receiving chemotherapy. | genomic_alterations | {
"id": 373156,
"name": "GSTK1",
"pos": [
63,
3
]
} | {
"id": "C0585442",
"name": "Osteosarcoma of bone",
"pos": [
108,
12
]
} |
Administration of 7-NI before the start of heat exposure significantly reduced the hyperthermia, intracranial hypertension, nNOS-dependent NO(2)(-), glutamate, glycerol, lactate/pyruvate ratio, and neuronal damage score in the hypothalamus, as well as overproduction of TNF-alpha in the serum that occurred during heatstroke. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
270,
9
]
} | {
"id": "C0151740",
"name": "Intracranial Hypertension",
"pos": [
97,
25
]
} |
Cadherin-17 induces tumorigenesis and lymphatic metastasis in gastric cancer through activation of NFκB signaling pathway. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
99,
4
]
} | {
"id": "C0024232",
"name": "Lymphatic Metastasis",
"pos": [
38,
20
]
} |
Taken together with reports of patients with the same TTR variant, Val 107 TTR mutation is probably associated with a clinical phenotype characterized by carpal tunnel syndrome, cardiomyopathy, bulbar palsy and dysphonia. | genomic_alterations | {
"id": 7276,
"name": "TTR",
"pos": [
75,
3
]
} | {
"id": "C1527344",
"name": "Dysphonia",
"pos": [
211,
9
]
} |
The HLA-ABC antigens were investigated in 29 patients with pure atopic dermatitis and 43 patients with atopic dermatitis combined with atopic respiratory disease (ARD). | NA | {
"id": 55256,
"name": "ADI1",
"pos": [
163,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
135,
6
]
} |
Calcineurin, a regulator of cardiac hypertrophy, was only upregulated in MAFbx/Atrogin-1(-/-) transplanted hearts, while the mTOR pathway was similarly activated in unloaded WT and MAFbx/Atrogin-1(-/-) hearts. | NA | {
"id": 114907,
"name": "FBXO32",
"pos": [
181,
5
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
28,
19
]
} |
We conclude that mutations of the p16INK4A and p15INK4B genes are not required for tumorigenesis of the pituitary gland. | NA | {
"id": 1030,
"name": "CDKN2B",
"pos": [
47,
8
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
83,
13
]
} |
Tandem duplications involving the BRAF kinase gene have recently been identified as the most frequent genetic alteration in sporadic pediatric glioma, creating a novel fusion protein (f-BRAF) with increased BRAF activity. | NA | {
"id": 673,
"name": "BRAF",
"pos": [
207,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
124,
8
]
} |
Therefore, we concluded that berberine played a regulatory role in macrophages M1 polarization in DSS-induced colitis via AKT1/SOCS1/NF-κB signaling pathway. | biomarker | {
"id": 207,
"name": "AKT1",
"pos": [
122,
4
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
110,
7
]
} |
Experimental colitis was induced in MFG-E8 knockout (KO) and wild-type (WT) mice by dextran sodium sulfate (DSS) administration. | NA | {
"id": 4240,
"name": "MFGE8",
"pos": [
36,
6
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
13,
7
]
} |
A 35-year-old woman was diagnosed as an ovarian clear cell carcinoma with HHM caused by elevated serum PTHrP after delivery. | NA | {
"id": 5744,
"name": "PTHLH",
"pos": [
74,
3
]
} | {
"id": "C0206681",
"name": "Adenocarcinoma, Clear Cell",
"pos": [
48,
20
]
} |
Interestingly, FIG4 mutations were previously reported to be responsible for other neurodegenerative diseases such as autosomal recessive Charcot-Marie-Tooth disease type 4J and autosomal dominant amyotrophic lateral sclerosis/primary lateral sclerosis. | genomic_alterations | {
"id": 9896,
"name": "FIG4",
"pos": [
15,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
83,
26
]
} |
We report our findings on the importance of CD44 variant exon 9(v9) of stem cells in colon cancer. | genomic_alterations | {
"id": 960,
"name": "CD44",
"pos": [
44,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
85,
12
]
} |
To determine the clonal derivation of multiple tumour foci and to map their clonal relationships and genetic progression in mPTC, we evaluated genome-wide allelic imbalances (AI) and BRAF V600E mutation status in 55 synchronous tumour foci from 18 mPTC patients. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
183,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
228,
6
]
} |
Cognitive and behavioral symptoms in Parkinson's disease patients with the G2019S and R1441G mutations of the LRRK2 gene. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
110,
5
]
} | {
"id": "C0004941",
"name": "Behavioral Symptoms",
"pos": [
14,
19
]
} |
As part of a multidisciplinary study, an apparently balanced de novo translocation between chromosomes 2 and 9 [46,XY,t(2;9)(p13;p24)] was identified in a subject with pervasive developmental disorder not otherwise specified (PDD-NOS), and no distinctive dysmorphic features. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
125,
3
]
} | {
"id": "C0432072",
"name": "Dysmorphic features",
"pos": [
255,
19
]
} |
To further define the role of SDH subunit mutations in these disorders, we analysed a series of 22 probands with PC and evidence of genetic susceptibility (seven with familial PC only, one with familial PC and HNPGL, 10 sporadic cases with multiple PC and four cases of isolated paediatric onset PC) for germline SDHB, SDHC and SDHD mutations. | NA | {
"id": 6392,
"name": "SDHD",
"pos": [
328,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
220,
8
]
} |
We found few significantly somatically mutated genes (~6 per spontaneous and 15 per UVR-induced melanoma) in addition to the Cdk4 and NRAS mutations already present. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
134,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
96,
8
]
} |
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