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Capsaicin treatment also activated δ-H2AX, ataxia telangiectasia mutated (ATM), DNA-dependent protein kinase catalytic subunit (DNA-PKcs), and poly(ADP-ribose) polymerase (PARP)-1. | NA | {
"id": 3014,
"name": "H2AX",
"pos": [
37,
4
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
50,
14
]
} |
After exclusion of other inherited (anti-thrombin, protein C, protein S deficiency and factor V Leiden) or acquired (anti-phospholipid antibody syndrome) causes of thrombophilia, 52 heterozygous carriers of the prothrombin mutation were compared with 283 patients with normal genotype. | genomic_alterations | {
"id": 2153,
"name": "F5",
"pos": [
87,
15
]
} | {
"id": "C0085278",
"name": "Antiphospholipid Syndrome",
"pos": [
117,
35
]
} |
They underwent polysomnography (PSG) and answered questionnaires on sleep apnea (STOP BANG), subjective sleep quality (Pittsburgh Sleep Quality Index, PSQI), sleepiness (Stanford and Epworth Sleepiness Scales), and anxiety and depression (Hospital Anxiety and Depression Scale) to evaluate the quality of sleep before and after forest therapy. | genomic_alterations | {
"id": 4135,
"name": "MAP6",
"pos": [
81,
4
]
} | {
"id": "C2830004",
"name": "Somnolence",
"pos": [
158,
10
]
} |
To give a translational significance to the study, we took into consideration human pair-matched ductal breast carcinoma and bone metastasis: E-cadherin and Wwox were expressed in bone metastasis but not in breast carcinoma, while HIF-1α and TAZ seemed localized principally in nuclei of metastasis and were found in all cell compartments of breast carcinoma. | NA | {
"id": 51741,
"name": "WWOX",
"pos": [
157,
4
]
} | {
"id": "C1527349",
"name": "Ductal Breast Carcinoma",
"pos": [
97,
23
]
} |
Plasminogen activator inhibitor type-1 (PAI-1) plays a central role in fibrolysis and has recently been hypothesized to influence components of the insulin resistance syndrome. | biomarker | {
"id": 5340,
"name": "PLG",
"pos": [
0,
11
]
} | {
"id": "C3714619",
"name": "Insulin resistance syndrome",
"pos": [
148,
27
]
} |
Similarly lower levels of IGF-I, and high levels of IFN-gamma, are statistically significantly (P < 0.05) associated with higher DRS scores (more severe delirium). | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
52,
3
]
} | {
"id": "C0011206",
"name": "Delirium",
"pos": [
153,
8
]
} |
Recently the high-mobility group protein gene HMGIC has been found to be rearranged in a variety of benign mesenchymal tumors with 12q13-q15 aberrations, such as angiomyxoma, fibroadenomas of the breast, lipomas, pleomorphic salivary gland adenomas, polyps of the endometrium, pulmonary chondroid hamartomas, and uterine leiomyomas. | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
46,
5
]
} | {
"id": "C0032584",
"name": "polyps",
"pos": [
250,
6
]
} |
In addition, rs3730859 in LIG1 was also moderately associated with increased risk for lung cancer among Caucasian smokers. | genomic_alterations | {
"id": 3978,
"name": "LIG1",
"pos": [
26,
4
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
86,
11
]
} |
Rigorous analysis revealed that RhoE up-regulation is at the transcriptional levels and requires hypoxia-inducible factor (HIF)-1α induction, and that HIF-1α binds a hypoxia-responsive element (HRE) on the RhoE promoter. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
151,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
166,
7
]
} |
Combined Malonic and Methylmalonic Aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterised by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). | NA | {
"id": 23531,
"name": "MMD",
"pos": [
179,
3
]
} | {
"id": "C0025521",
"name": "Inborn Errors of Metabolism",
"pos": [
73,
26
]
} |
These data suggest that hypoxia increases AP-1 binding activity by enhancing Ca2+ influx via La3+-sensitive TRP-encoded SOC channels in hPAEC. | NA | {
"id": 7306,
"name": "TYRP1",
"pos": [
108,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
24,
7
]
} |
For atopy, airway hyperresponsiveness (AHR), and wheeze, each subject was classified as having early onset, late onset, or no disease onset during follow-up. | NA | {
"id": 196,
"name": "AHR",
"pos": [
39,
3
]
} | {
"id": "C0043144",
"name": "Wheezing",
"pos": [
49,
6
]
} |
Therefore, miR-497-5p, miR-195-5p and miR-455-3p could be potential targeted therapeutic choice for melanoma. | biomarker | {
"id": 574456,
"name": "MIR497",
"pos": [
11,
7
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
100,
8
]
} |
Forty healthy adult male Sprague-Dawley rats were randomly allocated into four groups, where rats in Groups HVZP (high-volume zero positive end-expiratory pressure) and HVZP+KGF-2 were given intratracheally equal PBS and 5 mg/kg KGF-2 72 hrs before 4 hrs HVZP ventilation (20 ml/kg), respectively, while PBS and KGF-2 were administered in the same manner in Groups Control and KGF-2, which underwent tracheotomy only with spontaneous breathing. | NA | {
"id": 2252,
"name": "FGF7",
"pos": [
377,
3
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
434,
9
]
} |
Laboratory parameters of bone mineral metabolism (fibroblast growth factor 23 and sclerostin), bone turnover markers (bone alkaline phosphatase, tartrate-resistant acid phosphatase 5b) and bone mineral density (BMD, by dual energy x-ray absorptiometry, DXA) were assessed in 518 patients with ESRD, including 99 with ADPKD. | biomarker | {
"id": 54,
"name": "ACP5",
"pos": [
145,
38
]
} | {
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
293,
4
]
} |
We investigated 40 infants with cyanotic or acyanotic cardiac defects, as well as H9c2 embryonic rat cardiomyocytes, to examine the effect of hypoxia on the expression or activation of SOCS3, STAT3 and NF-κB in vivo and in vitro. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
185,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
142,
7
]
} |
Using conventional sequencing analysis, we screened neuroblastoma RAS viral (v-ras) oncogene homolog gene (NRAS), v-Ki-ras Kirsten rat sarcoma viral oncogene homolog gene (KRAS), and v-raf murine sarcoma viral oncogene homolog B1 gene (BRAF) for mutations in a large cohort (n=109) of infant acute lymphoblastic leukemia patients and studied the mutations in relation to several clinical parameters, and in relation to Homeobox gene A9 expression and the presence of ALL1 fused gene 4-Mixed Lineage Leukemia (AF4-MLL). | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
116,
6
]
} | {
"id": "C4054727",
"name": "Infant Acute Lymphoblastic Leukemia",
"pos": [
285,
35
]
} |
We used this scFv and an antibody against a pan-endothelial marker (Factor VIII) in a double-staining procedure on specimens of low- and high-grade astrocytomas to determine the percentage of B-FN-positive vessels, (denominating the resulting value angiogenic index [AI]). | NA | {
"id": 2157,
"name": "F8",
"pos": [
68,
11
]
} | {
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
148,
12
]
} |
Incubation of human hepatocytes with single cytokines (IFN-gamma, IL-1beta, TNF-alpha) or LPS, as well as a combination of all four stimuli (CM, cytomix) caused a time-dependent HO-1 mRNA expression over 12h and a decline by 24 h. In parallel, we observed a time-dependent membrane leakage for LDH and AST and a maximum HO-1 protein expression between 3-24 h. Warm and cold hypoxia showed similar results in HO-1 mRNA and protein expression and the release of LDH and AST. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
76,
9
]
} | {
"id": "C0009443",
"name": "Common Cold",
"pos": [
369,
4
]
} |
Such mutations are infrequent in other lymphomas, which instead display a separate group of novel mutations involving genes whose products are believed to affect histone acetylation and methylation and chromatin structure (for example, EZH2 and MLL2). | NA | {
"id": 9757,
"name": "KMT2B",
"pos": [
245,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
39,
9
]
} |
Osteogenesis imperfecta type VI is caused by mutations in SERPINF1, which codes for pigment-epithelium derived factor (PEDF). | NA | {
"id": 5176,
"name": "SERPINF1",
"pos": [
119,
4
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
84,
7
]
} |
In vivo, androgen withdrawal led to increased TSP1 production and decreased vascularization in the normal rat prostate which was reversed by androgen replacement. | NA | {
"id": 7180,
"name": "CRISP2",
"pos": [
46,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
76,
15
]
} |
In conclusion, the ACE genotype is not associated with essential hypertension based on ABP monitoring. | NA | {
"id": 26,
"name": "AOC1",
"pos": [
87,
3
]
} | {
"id": "C0085580",
"name": "Essential Hypertension",
"pos": [
55,
22
]
} |
ACTH therapy in infantile spasms: side effects. | therapeutic | {
"id": 5443,
"name": "POMC",
"pos": [
0,
4
]
} | {
"id": "C0553558",
"name": "Jackknife Seizures",
"pos": [
16,
16
]
} |
Stx2 induced the release of hemoglobin and lactate dehydrogenase in whole blood, indicating hemolysis. | NA | {
"id": 2054,
"name": "STX2",
"pos": [
0,
4
]
} | {
"id": "C2239101",
"name": "Hemoglobin, CTCAE",
"pos": [
28,
10
]
} |
PCR may be useful for the screening of blood products to be used in immunocompromised haemophiliacs, particularly in HIV positive subjects, at risk of severe chronic anaemia following B19 infection. | NA | {
"id": 59271,
"name": "EVA1C",
"pos": [
184,
3
]
} | {
"id": "C0581384",
"name": "Chronic anemia",
"pos": [
158,
15
]
} |
We conclude that mutations of the KLF6 gene are unlikely to play an important role in sporadic pituitary tumorigenesis. | NA | {
"id": 1316,
"name": "KLF6",
"pos": [
34,
9
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
86,
8
]
} |
These include gene fusions in vascular neoplasms (FOSB, CAMTA1 and TFE3), round cell sarcomas (BCOR, DUX4 and WT1), and fibroblastic/myofibroblastic tumors (STAT6, ALK and Pan-TRK); amplifications in well-differentiated and dedifferentiated liposarcomas (MDM2 and CDK4); and deletions in several aggressive neoplasms (SMARCB1 and SMARCA4). | genomic_alterations | {
"id": 4193,
"name": "MDM2",
"pos": [
255,
4
]
} | {
"id": "C0205824",
"name": "Liposarcoma, Dedifferentiated",
"pos": [
224,
29
]
} |
The aim of this study was to characterize FGF-2 and FGF-AS in esophageal cancer and to correlate their expression with clinicopathologic findings and outcome. | NA | {
"id": 11162,
"name": "NUDT6",
"pos": [
52,
6
]
} | {
"id": "C0014859",
"name": "Esophageal Neoplasms",
"pos": [
62,
17
]
} |
Serotonin receptor HTR1A and HTR2C variants and personality traits in suicide attempters and controls. | NA | {
"id": 3358,
"name": "HTR2C",
"pos": [
29,
5
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
70,
7
]
} |
Further, our data suggest that the methylation status of RAB22A, STX1B2, LGALS3BP, DNASE1L1 and PREX1 correlates with disease activity in lupus patients. | NA | {
"id": 57580,
"name": "PREX1",
"pos": [
96,
5
]
} | {
"id": "C0024131",
"name": "Lupus Vulgaris",
"pos": [
138,
5
]
} |
As a result, the extracellular signal-regulated kinases (ERK) 1/2 activation and c-Fos expression are altered in both mutant cell types, but the motor neurons exhibit a strikingly abnormal ERK1/2 and c-Fos response to serum-starvation induced stress. | NA | {
"id": 5595,
"name": "MAPK3",
"pos": [
189,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
224,
10
]
} |
CCL2 played important roles in regulating platelet function and arterial thrombosis through the PKCα-P38MAPK-HSP27 pathway, which might provide theoretical basis for searching new antiplatelet drugs and the treatment for cardiovascular diseases. | genomic_alterations | {
"id": 5578,
"name": "PRKCA",
"pos": [
96,
4
]
} | {
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
221,
23
]
} |
We evaluated associations between the -93 G>A polymorphism and CpG island methylator phenotype (CIMP), BRAF V600E mutations, and MLH1 methylation in tumors from a sample of 1,211 individuals with colon cancer and 1,968 controls from Utah, Northern California, and Minnesota. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
106,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
152,
6
]
} |
Using human pancreatic ductal adenocarcinoma (PDA) cell lines and Madin-Darby Canine Kidney (MDCK) cells, we examined the correlation between several markers of EMT and PHD3 expression. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
161,
3
]
} | {
"id": "C1335302",
"name": "Pancreatic Ductal Adenocarcinoma",
"pos": [
12,
32
]
} |
These findings suggest that patients with SCD have increased expression of adhesion molecules: E-selectin and P-selectin, which play an important role in the pathogenesis of VOC. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
95,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
75,
8
]
} |
Neither Lp(a) tertiles nor LPA kringle IV type 2 tertiles associated with the risk of venous thrombosis in general population studies (trend: P=0.12-0.76), but did each associate with risk of coronary, carotid, and femoral atherosclerotic stenosis in -case--control studies (trend: P<0.001 to 0.04). | NA | {
"id": 4018,
"name": "LPA",
"pos": [
27,
3
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
239,
8
]
} |
Taken together, our findings indicate that the molecular pathogenesis of esophageal BSCC differs from that of typical SCC and frequently involves coactivation of c-myc and Bcl-2. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
172,
5
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
73,
10
]
} |
Unlike control, CF human bronchial epithelial cultures (HBECs) where airway surface liquid (ASL) height was abnormally low (4.2 ± 0.6 μm), addition of S18 prevented ENaC-led ASL hyperabsorption and maintained CF ASL height at 7.9 ± 0.6 μm, even in the presence of neutrophil elastase, which is comparable to heights seen in normal HBECs. | NA | {
"id": 1991,
"name": "ELANE",
"pos": [
264,
19
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
216,
6
]
} |
In multivariate analysis, the 1494del6 in the 3' untranslated region (UTR) of the TS gene also had a predictive role for PFS (P = .0185; hazard ratio, 2.3258 for +6/+6 homozygotes) in analyzed mesothelioma patients. | NA | {
"id": 8170,
"name": "SLC14A2",
"pos": [
70,
3
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
193,
12
]
} |
Thus high-dose IGF-I/GH produce cardiac hypertrophy and a positive inotropic effect without causing significant changes in expression of fetal and other selected myocardial genes, suggesting that this hypertrophy may be of a more physiological type than that due to mechanical overload. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
15,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
201,
11
]
} |
After exclusion, in our family, of linkage to loci previously described in other forms of atrichia or hypotrichosis, we performed a genome-wide linkage analysis, which resulted in a positive lod score at 18p11.32-p11.23. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
213,
3
]
} | {
"id": "C0702167",
"name": "Atrichia",
"pos": [
90,
8
]
} |
The plasma and lung tissue ICAM-1, IL-8, and MCP-1 levels of the 11-week shunt group were all significantly higher than those of the 11-week control group (all P < 0.01). | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
35,
4
]
} | {
"id": "C0232180",
"name": "Cardiac shunt",
"pos": [
73,
5
]
} |
As its glucose-lowering action is glucose dependent, a GLP-1 receptor agonist (GLP-1RA) achieves these benefits with a lower risk of hypoglycemia compared with other diabetes therapies. | genomic_alterations | {
"id": 79813,
"name": "EHMT1",
"pos": [
79,
3
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
166,
8
]
} |
Proteasome-mediated degradation of IkappaBalpha and processing of p105 in Crohn disease and ulcerative colitis. | biomarker | {
"id": 1012,
"name": "CDH13",
"pos": [
66,
4
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
74,
13
]
} |
Administration of ActRIIB.Fc was associated with greater gains in body weight (P = 0.01) and upper arm circumference than placebo. | NA | {
"id": 93,
"name": "ACVR2B",
"pos": [
18,
7
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
66,
11
]
} |
We also briefly review two important advances in this area: the treatment of medulloblastomas in patients with mutations in the PTCH1 gene, and the discovery of deregulated mammalian target of rapamycin as a major oncogenic driver molecule in patients with TSC mutations and subependymal giant cell astrocytoma. | genomic_alterations | {
"id": 2475,
"name": "MTOR",
"pos": [
173,
29
]
} | {
"id": "C1832033",
"name": "Adult Subependymal Giant Cell Astrocytoma",
"pos": [
275,
35
]
} |
MTAP and/or CDKN2A/CDKN2B at 9p21.3 were deleted in one intermediate-risk (11%) and seven high-risk (70%) GISTs with two cases homozygously codeleted at both loci. | genomic_alterations | {
"id": 1030,
"name": "CDKN2B",
"pos": [
19,
6
]
} | {
"id": "C0238198",
"name": "Gastrointestinal Stromal Tumors",
"pos": [
106,
4
]
} |
Moreover, we find the presence of an AID/APOBEC mutational signature in esophageal adenocarcinomas, a type of tumor where APOBEC1 is expressed, that mimics the one preferred by APOBEC1 in vitro. | NA | {
"id": 339,
"name": "APOBEC1",
"pos": [
177,
7
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
72,
10
]
} |
Here, we report a novel POLG missense mutation (R627W) in a sporadic patient and we provide genetic support that all these POLG mutations are actually causal and recessive. | NA | {
"id": 5428,
"name": "POLG",
"pos": [
123,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
60,
8
]
} |
Their contribution to PD in other ethnic groups remains limited with 1% of VPS35 mutations observed in Caucasian and Japanese populations, but none in Chinese, and 11.57% of EIF4G1 mutations in Caucasian families and 0.09% and 0.17% in Caucasian and Chinese sporadic cases, respectively. | NA | {
"id": 55737,
"name": "VPS35",
"pos": [
75,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
258,
8
]
} |
Since both tumor necrosis factor alpha and interleukin 6 have been implicated in inflammatory demyelination and gliosis, our findings suggest that human microglial cells and monocytes infected with and activated by HTLV-I could play a role in the pathogenesis of HAM/TSP. | NA | {
"id": 7057,
"name": "THBS1",
"pos": [
267,
3
]
} | {
"id": "C0011304",
"name": "Demyelination",
"pos": [
94,
13
]
} |
Thus, calpain activation plays an important role in APP processing and plaque formation, probably by regulating the expression of BACE1. | NA | {
"id": 23621,
"name": "BACE1",
"pos": [
130,
5
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
71,
6
]
} |
The MSI-H phenotype is associated with defective DNA mismatch repair (MMR) and is observed in the majority of tumors from patients with hereditary non-polyposis colon cancer (HNPCC) and also in 15% of sporadic CRCs. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
70,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
201,
8
]
} |
In the present study, a total of 580 HBV-derived HCC cases and 1351 individuals with chronic hepatitis B (CHB) or asymptomatic carrier (ASC) were used for replication studies in order to evaluate the reported association with HBV-derived HCC in other East Asian populations. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
239,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
115,
12
]
} |
To identify the gene(s) responsible for Down syndrome congenital heart disease (DS-CHD), we constructed a physical map of the D21S55 to MX1 region. | NA | {
"id": 4599,
"name": "MX1",
"pos": [
136,
3
]
} | {
"id": "C0152021",
"name": "Congenital heart disease",
"pos": [
54,
24
]
} |
Gene expression profiling was also resolved in five subjects with Noonan-like syndrome with loose anagen hair (NS/LAH), a condition clinically related to NS and caused by an invariant mutation in SHOC2. | genomic_alterations | {
"id": 8036,
"name": "SHOC2",
"pos": [
196,
5
]
} | {
"id": "C0028326",
"name": "Noonan Syndrome",
"pos": [
154,
2
]
} |
The CAB frequency in PLP-depleted cells was strongly enhanced by sucrose, glucose or fructose treatments, and dPdxk mutant cells consistently displayed higher glucose contents than their wild type counterparts, an effect that is at least in part a consequence of an acquired insulin resistance. | NA | {
"id": 5354,
"name": "PLP1",
"pos": [
21,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
275,
18
]
} |
This function can be clearly seen since mutations in CLCNKB or BSND cause Bartter's syndrome types III and IV, respectively. | genomic_alterations | {
"id": 7809,
"name": "BSND",
"pos": [
63,
4
]
} | {
"id": "C0004775",
"name": "Bartter Disease",
"pos": [
74,
18
]
} |
TDP-43, encoded by the TARDBP gene, was identified as a component of motor neuron cytoplasmic inclusions in both familial and sporadic ALS and has become a pathological signature of the disease. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
23,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
126,
8
]
} |
These results suggest the oncogenic role of SPHK1 in MEN2A type tumor. | biomarker | {
"id": 8877,
"name": "SPHK1",
"pos": [
44,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
64,
5
]
} |
Fluorescence in situ hybridization for IGH, BCL2, BCL6, CCND1, and MYC loci showed that the only chromosomal translocation was rearranged IGH in 1 case. | NA | {
"id": 595,
"name": "CCND1",
"pos": [
56,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
97,
25
]
} |
De novo chromosome translocation t (2; 11) (p25.1; p13) in a patient with aniridia and genitourinary abnormalities. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
51,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
8,
24
]
} |
Although ST3Gal III transfection resulted in increased invasivity when compared with parental U-373 MG and vector-transfected control cells in vitro, ST6Gal I transfection abolished invasion in vitro and induced alterations in both cell morphology, cell-spreading, and adhesion-mediated protein tyrosine phosphorylation. | NA | {
"id": 6480,
"name": "ST6GAL1",
"pos": [
150,
8
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
269,
8
]
} |
We sought to understand the role of Bpifa1 fluctuations in modulating lung inflammation. | biomarker | {
"id": 51297,
"name": "BPIFA1",
"pos": [
36,
6
]
} | {
"id": "C0032285",
"name": "Pneumonia",
"pos": [
70,
17
]
} |
IL-8 and ENA-78 protein expression was most pronounced in pancreatic carcinoma specimens, showing an 11-fold and 17-fold overexpression in comparison with non-affected neighbouring tissues, a 66-fold and 24-fold upregulation compared to pancreatic cystadenoma, and a 6-fold and 9-fold overexpression with respect to chronic pancreatitis, respectively (p < 0.05 between all groups). | NA | {
"id": 6374,
"name": "CXCL5",
"pos": [
9,
6
]
} | {
"id": "C0341486",
"name": "Cystadenoma of pancreas",
"pos": [
237,
22
]
} |
We evaluated more than 450 patients with thrombophilia or iron overload for the presence of a factor V Leiden (R506Q), prothrombin G20210A, or HFE C282Y mutation using a standard method (polymerase chain reaction [PCR]-restriction fragment length polymorphism) and a comparative real-time PCR fluorescent resonance energy transfer (FRET) hybridization probe melting curve method. | NA | {
"id": 2153,
"name": "F5",
"pos": [
94,
15
]
} | {
"id": "C0282193",
"name": "Iron Overload",
"pos": [
58,
13
]
} |
Leucine-rich repeat kinase 2: a new player with a familiar theme for Parkinson's disease pathogenesis. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
0,
28
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
69,
19
]
} |
Taken together, Cav1.3 was overexpressed in atypical hyperplasia and endometrial carcinoma, and the estrogen-induced phosphorylation of downstream molecular ERK1/2 and CREB is the result of activation of the GPER pathway. | NA | {
"id": 1385,
"name": "CREB1",
"pos": [
168,
4
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
69,
21
]
} |
Cyclin E2 may be used as a marker for examination of minimal residual disease. | NA | {
"id": 9134,
"name": "CCNE2",
"pos": [
0,
9
]
} | {
"id": "C0242596",
"name": "Neoplasm, Residual",
"pos": [
53,
24
]
} |
There were significant correlations between GDF15, MMP7 and the incidence of gastric cancer. | biomarker | {
"id": 9518,
"name": "GDF15",
"pos": [
44,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
77,
14
]
} |
Reduced bone morphogenetic protein receptor type 1A signaling in neural-crest-derived cells causes facial dysmorphism. | NA | {
"id": 657,
"name": "BMPR1A",
"pos": [
8,
43
]
} | {
"id": "C0206138",
"name": "CREST Syndrome",
"pos": [
72,
5
]
} |
While not significantly correlated, the presence of hearing loss, seizures, hoarse voice, childhood onset of obesity and specific behavioral aspects and the absence of immunologic abnormalities and cardiovascular or renal structural anomalies, appeared to be specific for the de novo RAI1 subgroup. | NA | {
"id": 1797,
"name": "DXO",
"pos": [
284,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
109,
7
]
} |
Samples of venous blood were collected from 1634 patients with stroke, including cerebral thrombosis, lacunar cerebral infarction, and cerebral hemorrhage confirmed by CT or MRI, and sex-, and age-matched 1171 controls without cerebrovascular diseases. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
174,
3
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
63,
6
]
} |
We showed that specific, thus far little-explored adenovirus serotypes (Ad3, Ad7, Ad11, and Ad14) that use receptor(s) other than coxsackie-adenovirus receptor and CD46 were able to trigger EMT in epithelial ovarian cancer cells and cause efficient oncolysis. | NA | {
"id": 4179,
"name": "CD46",
"pos": [
164,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
50,
10
]
} |
Furthermore, a micrococcal nuclease sensitivity assay and an immunofluorescence assay demonstrated that methylation of SUV39H1 facilitated genome instability and ultimately inhibited cell proliferation. | NA | {
"id": 6839,
"name": "SUV39H1",
"pos": [
119,
7
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
139,
18
]
} |
The biological importance of the MAFbx/atrogin-1-dependent targeting of eFI3f is highlighted by the finding that expression of an eIF3f mutant insensitive to MAFbx/atrogin-1 polyubiquitination is associated with enhanced protection against starvation-induced muscle atrophy. | NA | {
"id": 8665,
"name": "EIF3F",
"pos": [
130,
5
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
240,
10
]
} |
Characterization of DOK1, a candidate tumor suppressor gene, in epithelial ovarian cancer. | therapeutic | {
"id": 1796,
"name": "DOK1",
"pos": [
20,
4
]
} | {
"id": "C0919267",
"name": "ovarian neoplasm",
"pos": [
64,
25
]
} |
Polymorphism in the gelatinase B gene and the severity of coronary arterial stenosis. | NA | {
"id": 4318,
"name": "MMP9",
"pos": [
20,
12
]
} | {
"id": "C0038449",
"name": "Stricture of artery",
"pos": [
67,
17
]
} |
Mesenchyme-derived tumors and related conditions, such as scleroderma and keloids, are positive for COL11A1/(pro)collagen 11A1 expression, as well as high-grade human gliomas/glioblastomas. | NA | {
"id": 1301,
"name": "COL11A1",
"pos": [
100,
7
]
} | {
"id": "C0022548",
"name": "Keloid",
"pos": [
74,
7
]
} |
A deeper understanding of the complex interplay that these proteins establish with murine double minute (MDM)2, MDMX, and mutant p53 could reveal new exciting therapeutic opportunities in cancer treatment. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
129,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
188,
6
]
} |
The sheep erythropoietin gene: molecular cloning and effect of hemorrhage on plasma erythropoietin and renal/liver messenger RNA in adult sheep. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
10,
19
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
63,
10
]
} |
There are more than 1,000 VUS reported in MMR genes and our approach facilitates the prioritization of further functional efforts to assess the pathogenicity to those classified as probably damaging.<i>Cancer </i>. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
42,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
208,
6
]
} |
Reduced expression of hMSH2 and hMLH1 in both HCC and ANCLT suggests that this event occurs at early stages of HCV-related hepatocarcinogenesis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
46,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
123,
20
]
} |
Heat-shock protein 90 (Hsp90) is vital to cell survival under conditions of stress, and binds client proteins to assist in protein stabilization, translocation of polypeptides across cell membranes, and recovery of proteins from aggregates. | NA | {
"id": 3320,
"name": "HSP90AA1",
"pos": [
23,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
146,
13
]
} |
Thus, 17 cases of lymph node-based LPL were studied with fluorescence immunophenotypic and interphase cytogenetics for the investigation of neoplasia (FICTION) using a CD79a antibody and probes to detect trisomies of chromosomes 3 (15 cases), 12 (16 cases), and 18 (17 cases); rearrangements (R) of IgH (10 cases), BCL6 (6 cases), PAX5 (7 cases), and MALT1 (16 cases); and deletion 6q21 (7 cases). | biomarker | {
"id": 973,
"name": "CD79A",
"pos": [
168,
5
]
} | {
"id": "C0024419",
"name": "Waldenstrom Macroglobulinemia",
"pos": [
35,
3
]
} |
This finding demonstrates that the HBV major surface antigen promoter contains four functional Sp1 binding sites which probably contribute to the level of expression from this promoter during viral infection. | NA | {
"id": 6667,
"name": "SP1",
"pos": [
95,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
192,
15
]
} |
Cocaine- and amphetamine-regulated transcript peptide (CART) has a role in chronic pain, and also in the actions of selective serotonin reuptake inhibitors (SSRIs) employed in the treatment of neuropathic pain. | NA | {
"id": 9607,
"name": "CARTPT",
"pos": [
55,
4
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
193,
16
]
} |
In addition, tumors that arose from injected TR1 knockdown cells lost the targeting construct, suggesting that TR1 is essential for tumor growth in mice. | NA | {
"id": 80835,
"name": "TAS1R1",
"pos": [
111,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
13,
6
]
} |
Four mutation carriers had dementia (MUT-Dem), 12 had amnestic mild cognitive impairment (MUT-aMCI) and nine were cognitively normal (MUT-Norm). | NA | {
"id": 4594,
"name": "MMUT",
"pos": [
134,
3
]
} | {
"id": "C0497327",
"name": "Dementia",
"pos": [
27,
8
]
} |
When stratifying HCV-infected patients into four genotypic associations expected to progressively increase TNFα and IL1β production, we observed increasing risk of HCC occurrence (Log-rank <0.0001) from group 1 to 4. | genomic_alterations | {
"id": 3553,
"name": "IL1B",
"pos": [
116,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
164,
3
]
} |
In adjusted modified Poisson regression models, CD4 and viral responses showed no significant differences according to timing of ART initiation (failure to increase CD4 by 6 months, <14 days vs. >60 days: RR 1.02, 95%CI 0.85-1.22; 15-60 days vs. >60 days: RR 1.00, 95%CI 0.86-1.15; failure to suppress virus by 6 months, <14 days vs. >60 days: RR 0.98, 95%CI 0.59-1.63; 15-60 days vs. >60 days: RR 0.96, 95%CI 0.66-1.41 and viral rebound at 12 months, 14 days vs. >60 days: RR 1.43, 95%CI 0.50-4.12; 15-60 days vs. >60 days: RR 1.14, 95%CI 0.39-3.34). | NA | {
"id": 920,
"name": "CD4",
"pos": [
166,
3
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
29,
10
]
} |
A novel adenovirus-mediated siRNA targeting CD147, rAd-H19-CD147mirsh, which was driven by the IGF2 imprinting system, was constructed. | NA | {
"id": 283120,
"name": "H19",
"pos": [
55,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
8,
10
]
} |
This profibrotic state preceded the development of left ventricular hypertrophy or fibrosis visible on MRI. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
103,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
83,
8
]
} |
Furthermore, treatment of carcinoma-associated fibroblasts (CAFs) derived from a mouse prostate carcinoma with BMP4 was shown to stimulate angiogenesis. | NA | {
"id": 652,
"name": "BMP4",
"pos": [
111,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
26,
9
]
} |
We studied 6,141 consecutive, asymptomatic, nondiabetic patients who underwent electron beam tomography and explored the interaction between metabolic risk factors (RFs) and premature family history (FH) of coronary heart disease (CHD) in predicting the presence and severity of coronary arterial calcium (CAC). | NA | {
"id": 788,
"name": "SLC25A20",
"pos": [
306,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
30,
12
]
} |
This case report, a very rare entity: a patient with a PTEN germline mutation and a lung adenocarcinoma harbouring two concomitant rare somatic mutations of EGFR. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
157,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
84,
19
]
} |
These results identify SPARC as an effector of ANG II signaling and suggest an important role for SPARC in mediating ANG II-induced oxidative stress, inflammation, and fibrosis. | NA | {
"id": 6678,
"name": "SPARC",
"pos": [
98,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
150,
12
]
} |
The expression pattern of MUC1 glycoforms and other biomarkers of endometrial receptivity in fertile and infertile women. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
26,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
105,
9
]
} |
Because Mlh3;Pms2 deficiency also increased gastrointestinal tumor progression, we used array-CGH to identify a recurrent tumor amplicon. | NA | {
"id": 27030,
"name": "MLH3",
"pos": [
8,
4
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
61,
17
]
} |
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