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dict |
|---|---|---|---|
Glutathione S-transferase (GST) plays a key role in the detoxification of xenobiotic atherogens generated by smoking. | NA | {
"id": 133482,
"name": "SLCO6A1",
"pos": [
27,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
109,
7
]
} |
Together, thermo-TRPs are promising targets for combating obesity and metabolic disorders. | biomarker | {
"id": 7306,
"name": "TYRP1",
"pos": [
17,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
58,
7
]
} |
FOLFOX4 Plus Cetuximab for Patients With Previously Untreated Metastatic Colorectal Cancer According to Tumor RAS and BRAF Mutation Status: Updated Analysis of the CECOG/CORE 1.2.002 Study. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
118,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
104,
5
]
} |
Our results suggested that the genetic variation of MIR196A2 may play a role in gastric cancer tumorigenesis. | NA | {
"id": 406973,
"name": "MIR196A2",
"pos": [
52,
8
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
95,
13
]
} |
Alemtuzumab is a humanized mouse antibody targeting the CD52 cell surface, which has been effective in patients with advanced stage mycosis fungoides (MF) including erythrodermic MF and Sézary syndrome. | NA | {
"id": 1043,
"name": "CD52",
"pos": [
56,
4
]
} | {
"id": "C0026948",
"name": "Mycosis Fungoides",
"pos": [
132,
17
]
} |
The altered expression reflected the true responsiveness to BL and further suggested possible reasons, at least in part, responsible for the dramatic dwarf and shriveled phenotypes of pag1. | biomarker | {
"id": 55824,
"name": "PAG1",
"pos": [
184,
4
]
} | {
"id": "C0013336",
"name": "Dwarfism",
"pos": [
150,
5
]
} |
Neuron-specific enolase (NSE) and glial fibrillary acidic protein (GFAP) were examined immunohistochemically in mice with vitamin-A-induced myeloschisis. | NA | {
"id": 2026,
"name": "ENO2",
"pos": [
25,
3
]
} | {
"id": "C0266507",
"name": "Myeloschisis",
"pos": [
140,
12
]
} |
Patterns of Müllerian Inhibiting Substance Type II and Candidate Type I Receptors in Epithelial Ovarian Cancer. | biomarker | {
"id": 268,
"name": "AMH",
"pos": [
12,
30
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
85,
25
]
} |
Patients with abnormal DAT-SPECT had higher MDS-UPDRS motor score (p = 0.006) and higher prevalence of orthostatic hypotension (p = 0.008). | biomarker | {
"id": 171023,
"name": "ASXL1",
"pos": [
44,
3
]
} | {
"id": "C0020651",
"name": "Hypotension, Orthostatic",
"pos": [
103,
23
]
} |
Therefore, we examined pro-TRH, PC1/3, and PC2 coexpression and coregulation in the paraventricular nucleus (PVN), lateral hypothalamus (LH), and ventromedial nucleus (VMN) of hypothyroid and euthyroid rats. | NA | {
"id": 8535,
"name": "CBX4",
"pos": [
43,
3
]
} | {
"id": "C0020676",
"name": "Hypothyroidism",
"pos": [
176,
11
]
} |
Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene. | genomic_alterations | {
"id": 4221,
"name": "MEN1",
"pos": [
95,
4
]
} | {
"id": "C0023267",
"name": "Fibroid Tumor",
"pos": [
50,
10
]
} |
Univariate survival analysis by log-rank test and multivariate survival analysis by Cox regression showed that BRCA1 expression was the most significant prognostic factor predicting relapse-free survival of early-stage patients. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
111,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
88,
10
]
} |
Intrathecal lentivirus-mediated transfer of interleukin-10 attenuates chronic constriction injury-induced neuropathic pain through modulation of spinal high-mobility group box 1 in rats. | therapeutic | {
"id": 3146,
"name": "HMGB1",
"pos": [
149,
25
]
} | {
"id": "C0020429",
"name": "Hyperalgesia",
"pos": [
106,
16
]
} |
And the effects of SLC39A6 silencing by siRNA on cell proliferation, apoptosis, and invasiveness, as well as the proteins involved in epithelial-to-mesenchymal transition (EMT) of esophageal cancer cells, were studied. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
172,
3
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
180,
17
]
} |
The achieved change in systolic and diastolic blood pressure (SBP and DBP) was analyzed for association with genotypes at the ACE gene locus. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
70,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
36,
24
]
} |
As a direct consequence, Kindlin-3 deficiency results in severe bleeding and resistance to arterial thrombosis. | NA | {
"id": 83706,
"name": "FERMT3",
"pos": [
25,
9
]
} | {
"id": "C0151942",
"name": "Arterial thrombosis",
"pos": [
91,
19
]
} |
In humans, ABCA1 mutations can cause a severe HDL-deficiency syndrome characterized by cholesterol deposition in tissue macrophages and prevalent atherosclerosis. | genomic_alterations | {
"id": 19,
"name": "ABCA1",
"pos": [
11,
5
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
146,
15
]
} |
Amplification of the genes MDM2, SAS, and CDK4, all located on the long arm of chromosome 12, has recently been demonstrated in human soft tissue tumors. | biomarker | {
"id": 6302,
"name": "TSPAN31",
"pos": [
33,
3
]
} | {
"id": "C0037579",
"name": "Soft Tissue Neoplasms",
"pos": [
134,
18
]
} |
Geometric mean concentrations of protein Z measured within 7 days of acute stroke were significantly higher in cases compared with controls (1.51 microg/mL versus 1.13 microg/mL; P<0.0001). | NA | {
"id": 8858,
"name": "PROZ",
"pos": [
33,
9
]
} | {
"id": "C0751956",
"name": "Acute Cerebrovascular Accidents",
"pos": [
69,
12
]
} |
Additional genetic risk factor for death in children with acute lymphoblastic leukemia: a common polymorphism of the MTHFR gene. | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
117,
5
]
} | {
"id": "C1961102",
"name": "Precursor Cell Lymphoblastic Leukemia Lymphoma",
"pos": [
58,
28
]
} |
This benign tumor must be clearly distinguished from dermatofibrosarcoma protuberans, which also is composed of bundles of CD34-reactive spindle-shaped cells in most cases but has locally aggressive behavior. | NA | {
"id": 947,
"name": "CD34",
"pos": [
123,
4
]
} | {
"id": "C0086692",
"name": "Benign Neoplasm",
"pos": [
5,
12
]
} |
Thus, although the precise mechanism of the effect is unclear, the data strongly suggest that the LPL-Asn9 variant is associated with and may play a direct role in predisposing carriers to develop hypertriglyceridemia. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
98,
3
]
} | {
"id": "C0020557",
"name": "Hypertriglyceridemia",
"pos": [
197,
20
]
} |
HLA-A*02:07 was also identified as a possible risk allele for hypertension (OR 2.90; p < 0.05), and C*01:02 was a possible risk allele for dyslipidemia (OR 3.36; p < 0.05), both known to be common comorbidities in patients with psoriasis. | genomic_alterations | {
"id": 3105,
"name": "HLA-A",
"pos": [
0,
5
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
62,
12
]
} |
Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
101,
3
]
} | {
"id": "C0747102",
"name": "Ovarian failure",
"pos": [
154,
15
]
} |
Actin-related protein 2/3 complex subunit 5 (ARPC5) contributes to cell migration and invasion and is directly regulated by tumor-suppressive microRNA-133a in head and neck squamous cell carcinoma. | NA | {
"id": 10092,
"name": "ARPC5",
"pos": [
45,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
136,
5
]
} |
Of the phenotypes examined, the ACE-I/D, AGT-M235T, and AT1R-A1166C polymorphisms exhibited significant association with systolic blood pressure, glomerular filtration rate and body mass index, respectively. | NA | {
"id": 183,
"name": "AGT",
"pos": [
41,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
177,
15
]
} |
We defined 'mild' RER as mono- or tetranucleotide repeat instability in the absence of widespread instability at dinucleotide repeats and studied 15 colorectal tumors with this phenotype for mutations in the DNA mismatch repair genes MSH2, MLH1, MSH3, and MSH6. | NA | {
"id": 4436,
"name": "MSH2",
"pos": [
234,
4
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
25,
4
]
} |
In acute myeloid leukemia (AML), ASXL1 mutations tend to correlate with older age and male gender, and affect predominantly patients with secondary AML. | genomic_alterations | {
"id": 171023,
"name": "ASXL1",
"pos": [
33,
5
]
} | {
"id": "C0280449",
"name": "secondary acute myeloid leukemia",
"pos": [
138,
13
]
} |
The current findings indicated that differential expression of adhesion and ECM molecules, such as CD166, versican, perlecan, and Col4A2, may interfere with cartilaginous differentiation. | NA | {
"id": 3339,
"name": "HSPG2",
"pos": [
116,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
63,
8
]
} |
A pooled analysis of the original data of about 9500 subjects involved in 21 case-control studies from the International Collaborative Study on Genetic Susceptibility to Environmental Carcinogens (GSEC) data set was performed to assess the role of GSTM1 genotype as a modifier of the effect of smoking on lung cancer risk with adequate power. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
248,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
294,
7
]
} |
The position of our FISH probe and data of a previously performed high-resolution CGH study in the breast cancer cell line SK-BR-3 involve TCEB1 and TMEM70 as new possible candidate oncogenes at 8q21 in breast cancer. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
20,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
203,
13
]
} |
We report a case of MECP2 mutation in a male patient who exhibited neonatal encephalopathy. | genomic_alterations | {
"id": 4204,
"name": "MECP2",
"pos": [
20,
5
]
} | {
"id": "C0235820",
"name": "Neonatal encephalopathy",
"pos": [
67,
23
]
} |
Mutation of the APC gene may be a common denominator of all human colon cancer--polypoid and non-polypoid familial cancer as well as sporadic occurrences. | NA | {
"id": 324,
"name": "APC",
"pos": [
16,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
133,
8
]
} |
We describe a patient homozygous for a novel mutation of SETX who manifested not only ataxia but also ovarian failure. | genomic_alterations | {
"id": 23064,
"name": "SETX",
"pos": [
57,
4
]
} | {
"id": "C0004134",
"name": "Ataxia",
"pos": [
86,
6
]
} |
The aim of this study was to elucidate whether the presence of ABCA1 gene polymorphism could be a risk factor for overweight/obesity. | NA | {
"id": 19,
"name": "ABCA1",
"pos": [
63,
10
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
114,
10
]
} |
The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases. | genomic_alterations | {
"id": 282809,
"name": "POC1B",
"pos": [
35,
5
]
} | {
"id": "C0302129",
"name": "Achromatopsia 1",
"pos": [
74,
13
]
} |
The t(10;11)(p13;q14-21) is found in T-ALL and acute myeloid leukemia and fuses CALM (Clathrin-Assembly protein-like Lymphoid-Myeloid leukaemia gene) to AF10. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
13,
3
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
47,
22
]
} |
The decline of NG2(+) cells may cause demyelination and contribute to the susceptibility of SHR-SP to ischemic brain injury. | NA | {
"id": 1464,
"name": "CSPG4",
"pos": [
15,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
38,
13
]
} |
Using an encephalitis isolate (T1 genotype), a keratitis isolate (T4 genotype), and an environmental isolate (T7 genotype), we demonstrated that Acanthamoeba exhibited phospholipase A(2) (PLA(2)) and phospholipase D (PLD) activities in a spectrophotometry-based assay. | genomic_alterations | {
"id": 151056,
"name": "PLB1",
"pos": [
168,
17
]
} | {
"id": "C0014038",
"name": "Encephalitis",
"pos": [
9,
12
]
} |
Increased expression of RNase L or downregulation of its inhibitor (RLI) improved insulin response in mouse myogenic C2C12 cells and in primary human myotubes from normal-weight subjects treated with palmitate, a saturated free fatty acid (FFA) known to induce inflammation and oxidative stress via TLR4 activation. | NA | {
"id": 6059,
"name": "ABCE1",
"pos": [
68,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
261,
12
]
} |
Additional complications of PGA were recognized especially when NOD2 mutation analysis became generally available. | genomic_alterations | {
"id": 64127,
"name": "NOD2",
"pos": [
64,
4
]
} | {
"id": "C0085409",
"name": "Polyendocrinopathies, Autoimmune",
"pos": [
28,
3
]
} |
Nilotinib is used for adult leukemia treatment and it enters the brain within US Food and Drug Administration approved doses, leading to autophagic degradation of α-synuclein, protection of SN neurons and amelioration of motor performance. | genomic_alterations | {
"id": 6622,
"name": "SNCA",
"pos": [
163,
11
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
28,
8
]
} |
These findings suggest that ZEB1 is not only driving EMT, but also contributes to the formation of osteolytic bone metastases in breast cancer. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
53,
3
]
} | {
"id": "C0153690",
"name": "Secondary malignant neoplasm of bone",
"pos": [
110,
15
]
} |
By employing an isogenic human cell model, we observed that expression of E6 and E7 is sufficient to induce reactive oxygen species (ROS) generation in head and neck cancer cells. | biomarker | {
"id": 6098,
"name": "ROS1",
"pos": [
133,
3
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
152,
20
]
} |
Our previous work has shown that adult mice with overexpression of IL-6 and IL-13 in the lung have enhanced survival in hyperoxia associated with reduced hyperoxia-induced lung injury and cell death. | NA | {
"id": 3596,
"name": "IL13",
"pos": [
76,
5
]
} | {
"id": "C0242706",
"name": "Hyperoxia",
"pos": [
154,
9
]
} |
In view of the clinical similarities between polyarticular osteoarthritis (POA) with metacarpophalangeal (MCP) joint involvement and the arthropathy that occurs in hereditary haemochromatosis (HH), it was hypothesized that osteochondral damage in both disorders may be due to localized iron overload. | NA | {
"id": 822,
"name": "CAPG",
"pos": [
106,
3
]
} | {
"id": "C0022408",
"name": "Arthropathy",
"pos": [
137,
11
]
} |
1 CS-heterozygote strain tested also showed a reduced HCR for UV-irradiated adenovirus intermediate between that of the patient strain and normal, whereas another CS-heterozygote strain showed apparently normal HCR level. | NA | {
"id": 54535,
"name": "CCHCR1",
"pos": [
211,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
76,
10
]
} |
We assessed heterogeneity of KRAS and BRAF mutation status intra-tumorally (multiple blocks from the same primary tumor). | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
38,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
114,
5
]
} |
Delivery of siRNA in vitro and in vivo using PEI-capped porous silicon nanoparticles to silence MRP1 and inhibit proliferation in glioblastoma. | biomarker | {
"id": 4437,
"name": "MSH3",
"pos": [
96,
4
]
} | {
"id": "C0278878",
"name": "Adult Glioblastoma",
"pos": [
130,
12
]
} |
Immune checkpoints PVR and PVRL2 are prognostic markers in AML and their blockade represents a new therapeutic option. | therapeutic | {
"id": 5819,
"name": "NECTIN2",
"pos": [
27,
5
]
} | {
"id": "C1879321",
"name": "Acute Myeloid Leukemia (AML-M2)",
"pos": [
59,
3
]
} |
ICAD deficiency in human colon cancer and predisposition to colon tumorigenesis: linkage to apoptosis resistance and genomic instability. | NA | {
"id": 1676,
"name": "DFFA",
"pos": [
0,
4
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
117,
19
]
} |
We found that the presence/absence of the estrogen receptor (ER) may play a crucial role in driving tumor development through distinct genomic pathways independently of the tumor type (sporadic or familial) and mutation status (BRCA1 or BRCA2). | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
228,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
185,
8
]
} |
Therefore we have examined three other candidate genes in the endothelin pathway (ECE1, EDNRA and EDNRB, which map to chromosomes 1, 4 and 13 respectively) in a linkage study of 9 families with OFC, where the disorder is not linked to chromosome 6p23. | genomic_alterations | {
"id": 1910,
"name": "EDNRB",
"pos": [
98,
5
]
} | {
"id": "C1861537",
"name": "OROFACIAL CLEFT 1",
"pos": [
194,
3
]
} |
There was no difference in alanine aminotransferase (ALT), aspartate aminotransferase (AST), triglyceride (TG), cholesterol (CHOL) and whole body insulin sensitivity index (WBISI) between obese individuals with and without mutation. | NA | {
"id": 2805,
"name": "GOT1",
"pos": [
87,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
188,
5
]
} |
Apolipoprotein E genotype is associated with temporal and hippocampal atrophy rates in healthy elderly adults: a tensor-based morphometry study. | NA | {
"id": 348,
"name": "APOE",
"pos": [
0,
16
]
} | {
"id": "C4315130",
"name": "Hippocampal atrophy",
"pos": [
58,
19
]
} |
This was validated by restoring Smad7 locally in the kidneys of ACE2 knockout mice to block angiotensin II-induced TGF-β/Smad3-mediated renal fibrosis and NF-κB-driven renal inflammation. | biomarker | {
"id": 59272,
"name": "ACE2",
"pos": [
64,
4
]
} | {
"id": "C0151650",
"name": "Renal fibrosis",
"pos": [
136,
14
]
} |
GILZ overexpression in the carcinoma-derived BG1 cell line resulted in parallel changes in CX(3)CL1 products. | NA | {
"id": 1831,
"name": "TSC22D3",
"pos": [
0,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
27,
9
]
} |
The surface antigen expression of oMSCs was consistent with that of MSCs; they lacked the hematopoietic and common leukocyte markers (CD34, CD45) while expressing those related to adhesion (CD29, CD166, CD44) and stem cells (CD90, CD105, CD73). | NA | {
"id": 2022,
"name": "ENG",
"pos": [
231,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
180,
8
]
} |
Mutations in three genes, PAX9, MSX1, and AXIN2, have been determined to be associated with autosomal dominant and recessive tooth agenesis. | NA | {
"id": 8313,
"name": "AXIN2",
"pos": [
42,
5
]
} | {
"id": "C4083050",
"name": "Tooth agenesis",
"pos": [
125,
14
]
} |
Genomic DNA was purified from eight women with MAI pulmonary disease and four controls. | NA | {
"id": 2954,
"name": "GSTZ1",
"pos": [
47,
3
]
} | {
"id": "C0024115",
"name": "Lung diseases",
"pos": [
51,
17
]
} |
Results obtained with the H19 probe can be summarized as follows: 1) in normal breast tissues signals were focally observed in epithelial cells, but more predominantly in the palleal tissue which is sensitive to hormones; 2) in the fibroadenoma, fibroblastic cells were extensively labeled at the stroma-epithelium boundary, but epithelial cells were negative; and 3) in primary cancers, eight specimens exhibited signals on stromal cells, one specimen on epithelial cells and four on both epithelial and stromal cells. | NA | {
"id": 283120,
"name": "H19",
"pos": [
26,
3
]
} | {
"id": "C0206650",
"name": "Fibroadenoma",
"pos": [
232,
12
]
} |
The aim of this study is to clarify whether DYRK2 regulates EMT through Snail degradation in ovarian serous adenocarcinoma (SA). | NA | {
"id": 8445,
"name": "DYRK2",
"pos": [
44,
5
]
} | {
"id": "C0206701",
"name": "Cystadenocarcinoma, Serous",
"pos": [
101,
21
]
} |
STAT5B mutations in the heterozygous state have a significant negative impact on height (∼ 3.9 cm). | NA | {
"id": 6777,
"name": "STAT5B",
"pos": [
0,
6
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
81,
6
]
} |
Besides PPH, isolated symptoms of bruising, epistaxis, menorrhagia and postsurgical bleeding including dental extraction were not associated with lower FIX:C. Bleeding score >/=3 was associated with involvement of at least two bleeding sites and a lower mean FIX:C of 42 +/- 10.3% (95% CI 36.4-47.7) while a score >3 had involvement of </=2 sites and higher mean FIX:C of 54.9 +/- 21.5% (95% CI 49-61), P = 0.005. | NA | {
"id": 2023,
"name": "ENO1",
"pos": [
8,
3
]
} | {
"id": "C0025323",
"name": "Menorrhagia",
"pos": [
55,
11
]
} |
Interstitial expression of SPARC was most prominent in passive Heyman nephritis (PHN), chronic cyclosporine A (CsA) nephropathy, and the remnant kidney model and, to a lesser extent, in angiotensin II (Ang II)-infused animals. | NA | {
"id": 6678,
"name": "SPARC",
"pos": [
27,
5
]
} | {
"id": "C0027697",
"name": "Nephritis",
"pos": [
70,
9
]
} |
Distinction of hydatidiform moles from nonmolar specimens and their subclassification as complete (complete hydatidiform mole) versus partial hydatidiform mole (PHM) are important for clinical practice and investigational studies to refine ascertainment of risk of persistent gestational trophoblastic disease, which differs among these entities. | NA | {
"id": 5066,
"name": "PAM",
"pos": [
161,
3
]
} | {
"id": "C0334529",
"name": "Hydatidiform Mole, Partial",
"pos": [
134,
25
]
} |
"NEP-like") as these inhibitors induce a dramatic increase in Abeta levels resulting in rapid plaque formation in wild-type rodents. | NA | {
"id": 780,
"name": "DDR1",
"pos": [
1,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
94,
6
]
} |
Anti-GM-CSF treatment increased LV ejection fraction (37 ± 3% vs 47 ± 5%) and decreased LV end systolic diameter (0.75 ± 0.12 vs 0.59 ± 0.05 cm) with no changes in LV systolic pressure (109 ± 4 vs 104 ± 5 mm Hg), LV end diastolic pressure (22 ± 4 vs 21 ± 2 mm Hg), LV end diastolic diameter (0.96 ± 0.04 vs 0.92 ± 0.05 cm), or the time constant of LV relaxation tau (25.4 ± +2.4 vs 22.7 ± 1.4 milliseconds) (P < 0.05). | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
5,
6
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
220,
18
]
} |
Recent studies have demonstrated that mutations in PINK1 (PARK6 locus) gene, encoding PTEN-induced kinase 1, are associated with both familial recessive and sporadic early onset parkinsonism. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
86,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
157,
8
]
} |
ACE2, as well as the ACE inhibitor enalapril, significantly reduced systolic blood pressure. | NA | {
"id": 59272,
"name": "ACE2",
"pos": [
0,
4
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
68,
23
]
} |
The results suggested that cyclin A may contribute to the progression of oral cancer and correlated to some degree with that of the p53 gene activity. | NA | {
"id": 890,
"name": "CCNA2",
"pos": [
27,
8
]
} | {
"id": "C0220641",
"name": "Lip and Oral Cavity Carcinoma",
"pos": [
73,
11
]
} |
Therefore the expression of nerve growth factor (NGF), BDNF, neurotrophin-3 (NT-3), and neurotrophin-4/5 (NT-4/5) was investigated in postmortem muscle tissue of the biceps from 15 patients with neuropathologically confirmed sporadic ALS and 15 age-matched controls. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
55,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
225,
8
]
} |
Lipoprotein(a) Lp(a) is a cholesterol-rich, LDL-like particle that is independently associated with an increased risk for ischemic heart disease, atherosclerosis, thrombosis, and stroke. | genomic_alterations | {
"id": 4018,
"name": "LPA",
"pos": [
0,
13
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
179,
6
]
} |
ER-α genotyping, as well as the CRP and IL-6 serum level and blood pressure, was analyzed. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
32,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
61,
14
]
} |
The CypD-deficient cortical mitochondria are resistant to Abeta- and Ca(2+)-induced mitochondrial swelling and permeability transition. | NA | {
"id": 5481,
"name": "PPID",
"pos": [
4,
4
]
} | {
"id": "C0026244",
"name": "Mitochondrial Swelling",
"pos": [
84,
22
]
} |
HT1080 fibrosarcoma cells were used as positive controls for LRP. | NA | {
"id": 4035,
"name": "LRP1",
"pos": [
61,
3
]
} | {
"id": "C0016057",
"name": "Fibrosarcoma",
"pos": [
7,
12
]
} |
Purified 1 x 10(4) circulating CD34+ cells isolated from rHuEPO-hyporesponsive HD patients (EPO-H; n = 10), rHuEPO-responsive non-HD patients with CRF (EPO-R; n = 8), nonanemic HD patients without rHuEPO therapy (EPO-W/O; n = 10), and healthy volunteer controls (CON; n = 10) were subjected to a methylcellulose culture system supplemented with rHuEPO, recombinant human interleukin-3 (IL-3), recombinant human stem cell factor (SCF), and recombinant human granulocyte-macrophage colony-stimulating factor (GM-CSF) for 14 days. | genomic_alterations | {
"id": 2056,
"name": "EPO",
"pos": [
92,
3
]
} | {
"id": "C0020179",
"name": "Huntington Disease",
"pos": [
79,
2
]
} |
Therefore, in this study, we observed no influence of the ACE gene polymorphism in chronic allograft nephropathy. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
58,
8
]
} | {
"id": "C0403592",
"name": "Chronic rejection of renal transplant",
"pos": [
83,
29
]
} |
However, variants in PCSK1 did affect cholesterol level, LDL-C level, and waist circumference. | NA | {
"id": 5122,
"name": "PCSK1",
"pos": [
21,
5
]
} | {
"id": "C0455829",
"name": "Waist Circumference",
"pos": [
74,
19
]
} |
The growth arrest DNA damage-inducible gene (GADD45) family, which is composed of GADD45A, GADD45B, and GADD45G, may play similar but not identical roles in tumorigenesis. | NA | {
"id": 4616,
"name": "GADD45B",
"pos": [
91,
7
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
157,
13
]
} |
Functional NPY variation as a factor in stress resilience and alcohol consumption in rhesus macaques. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
11,
3
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
62,
19
]
} |
We identified ten suggestive loci (p-value ≤ 1E-5), including genes/loci that have been previously implicated in chronic periodontitis: LAMA2, HAS2, CDH2, ESR1, and the genomic region on chromosome 14q21-22 between SOS2 and NIN. | NA | {
"id": 6655,
"name": "SOS2",
"pos": [
215,
4
]
} | {
"id": "C0266929",
"name": "Chronic Periodontitis",
"pos": [
113,
21
]
} |
Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized by sustained twisting contractures that begin in childhood, which is caused in majority of cases by a 3-bp deletion of the DYT1 gene on chromosome 9q34 at the heterozygote state. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
250,
4
]
} | {
"id": "C3888090",
"name": "Early onset torsion dystonia",
"pos": [
12,
24
]
} |
As a result, methyl 2,5-dihydromethylcinnimate (2,5-MeC), a tyrosine kinase inhibitor, enhanced expression and/or stability of PML proteins and induced PML-NB formation in p53 null H1299 cells established from non-small cell lung cancer (NSCLC) and wild-type p53-expressing U2OS cells derived from osteosarcoma. | biomarker | {
"id": 5371,
"name": "PML",
"pos": [
127,
3
]
} | {
"id": "C0585442",
"name": "Osteosarcoma of bone",
"pos": [
298,
12
]
} |
Stimulation of 5-HT 1A receptors increases the seizure threshold for picrotoxin in mice. | therapeutic | {
"id": 3350,
"name": "HTR1A",
"pos": [
15,
6
]
} | {
"id": "C4317123",
"name": "Myoclonic Seizures",
"pos": [
47,
7
]
} |
Among the cases and healthy controls, there was a significant association between the TGF-β1 C-509T variants and increased HCC susceptibility for two models involving HCV-infected subjects. | genomic_alterations | {
"id": 7040,
"name": "TGFB1",
"pos": [
86,
6
]
} | {
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
167,
3
]
} |
To elucidate the role of these RET ligands in MTC tumorigenesis, their expression was determined in 15 MTC samples, one papillary thyroid carcinoma (PTC) and three normal thyroid tissue specimens. | NA | {
"id": 5979,
"name": "RET",
"pos": [
31,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
50,
13
]
} |
To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and intrafamilial phenotype variability has not been reported in affected males. | NA | {
"id": 554,
"name": "AVPR2",
"pos": [
20,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
89,
4
]
} |
We investigated the role of genetic polymorphisms and haplotypes of the TF gene in the risk of ischemic vascular disease. | NA | {
"id": 7018,
"name": "TF",
"pos": [
72,
7
]
} | {
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
104,
16
]
} |
The highest class-specific risks were neutropenia grade 3-4 for CDK4/6 inhibitors (OR 40.77; 95% CI 19.52-85.19), stomatitis grade 3-4 for mTOR inhibitors (OR 11.92; 95% CI 3.68-38.57), hyperglycemia grade 3-4 for PI3K inhibitors (OR 40.93; 95% CI 10.08-166.22) and diarrhea for anti-HER2 agents (OR 9.93; 95% CI 4.71-20.95). | genomic_alterations | {
"id": 5291,
"name": "PIK3CB",
"pos": [
214,
4
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
186,
13
]
} |
Injection of tumour necrosis factor and interferon gamma into the subarachnoid space of female Dark Agouti rats pre-immunized with a subclinical dose of myelin oligodendrocyte glycoprotein mimicked the pathology seen in multiple sclerosis, including infiltration of lymphocytes (CD4+ and CD8+ T cells and CD79+ B cells) into the meninges and extensive subpial demyelination. | NA | {
"id": 920,
"name": "CD4",
"pos": [
279,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
360,
13
]
} |
However, stratification by the amount of accumulative smoking revealed that among people with a heavy smoking history, the individuals with the CYP2E1 C1/C1 genotype (OR=2.55, 95%CI: 1.20-5.43) and the individuals with GSTT1 null genotype (OR=2.23, 95%CI: 1.09-4.57) showed a significantly increased risk. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
219,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
54,
7
]
} |
We conclude that FGF21 inhibits pulmonary fibrosis through activating Nrf-2 pathway, subsequently suppressing oxidative stress, inhibiting ECM deposition and pulmonary fibrogenesis, suggesting that FGF21 has potential as therapeutic agent for treatment of pulmonary fibrosis. | biomarker | {
"id": 2551,
"name": "GABPA",
"pos": [
70,
5
]
} | {
"id": "C0034069",
"name": "Pulmonary Fibrosis",
"pos": [
256,
18
]
} |
Granzyme B and perforin may play a role in the suppression of nodal metastasis of cancer cells in breast and lung cancers. | biomarker | {
"id": 3002,
"name": "GZMB",
"pos": [
0,
10
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
109,
12
]
} |
An axis of photosensitivity, anti-Ro/SS-A antibodies, and apoptosis via tumor necrosis factor-alpha is the best marker to verify the contribution of genetics in CLE patients. | biomarker | {
"id": 7124,
"name": "TNF",
"pos": [
72,
27
]
} | {
"id": "C1858991",
"name": "Childhood Ataxia with Central Nervous System Hypomyelinization",
"pos": [
161,
3
]
} |
These observations led to the development of the first monoclonal antibody targeting the extracellular domain of HER2, trastuzumab (Herceptin, Genentech and Hoffman LaRoche, Switzerland), which was approved by the US FDA for metastatic breast cancer in 1998. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
113,
4
]
} | {
"id": "C0278488",
"name": "Carcinoma breast stage IV",
"pos": [
225,
24
]
} |
Studies of inherited conditions characterized by high or low blood pressure reveal the importance of a new signalling cascade, With no Lysine kinases (WNK) --> ste20/SPS1-related proline/alanine-rich kinase (SPAK)/oxidative stress-responsive kinase-1 (OSR1) --> Cation-Chloride Cotransporters (CCC), in regulating blood pressure and in the pathogenesis of essential hypertension. | NA | {
"id": 51526,
"name": "OSER1",
"pos": [
252,
4
]
} | {
"id": "C0020649",
"name": "Hypotension",
"pos": [
57,
18
]
} |
These findings reveal a novel mechanism by which insulin secretion is physiologically regulated by STRs and also suggest that, during the development of diabetes, STR function is compromised by hyperglycemia leading to hyperinsulinemia. | NA | {
"id": 6779,
"name": "STATH",
"pos": [
163,
3
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
194,
13
]
} |
In addition, the successful use of macrolide antibiotics to treat lung infections in these conditions further confirms that the innate immune system is the key conductor of inflammation in these pulmonary diseases, as there is a strong body of evidence that macrolides are able to modulate the NLRP3 inflammasome and interleukin-1β and interleukin-18 secretion, both of which are central players in the innate immune response. | biomarker | {
"id": 114548,
"name": "NLRP3",
"pos": [
294,
5
]
} | {
"id": "C0024115",
"name": "Lung diseases",
"pos": [
195,
18
]
} |
Friedreich ataxia (FRDA), a progressive neurodegenerative disease, is due to the partial loss of function of frataxin, a mitochondrial protein of unknown function. | genomic_alterations | {
"id": 2395,
"name": "FXN",
"pos": [
109,
8
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
40,
25
]
} |
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