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Subsequent studies in gene-targeted mice for Ent1 or Ent2 revealed a selective phenotype in Ent2(-/-) mice, including attenuated pulmonary edema and improved gas exchange during ALI in conjunction with elevated adenosine levels in the bronchoalveolar fluid. | NA | {
"id": 2030,
"name": "SLC29A1",
"pos": [
45,
4
]
} | {
"id": "C0034063",
"name": "Pulmonary Edema",
"pos": [
129,
15
]
} |
However, in a rising number of patients abnormalities of chromosome 7 have been reported, especially an i(7)(q10), which seems to be a non-random chromosome abnormality. | NA | {
"id": 27161,
"name": "AGO2",
"pos": [
109,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
40,
13
]
} |
Ectopic FAM110B expression in non-cancerous epithelial prostate cells induced aneuploidy and impaired antigen presentation. | NA | {
"id": 90362,
"name": "FAM110B",
"pos": [
8,
7
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
78,
10
]
} |
ALK expression was detected in 10.4% of the samples, and 22.0% of the tumors harbored EGFR mutations. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
86,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
70,
6
]
} |
These results may have important implications for ERT in sialidosis patients. | NA | {
"id": 1999,
"name": "ELF3",
"pos": [
50,
3
]
} | {
"id": "C0026697",
"name": "Mucolipidoses",
"pos": [
57,
10
]
} |
Most NIDDM result from polygenic heredity, and susceptibility genes conducive to increased receptivity to deleterious environmental influences are now under investigation, such as beta 3 adrenergic receptor, FABP2 and OB. | genomic_alterations | {
"id": 155,
"name": "ADRB3",
"pos": [
180,
26
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
5,
5
]
} |
The hepcidin:ferritin ratio is reduced in relation to increasing fibrosis in CLD and the use of this ratio may have potential future diagnostic implications as a marker of cirrhosis. | NA | {
"id": 57817,
"name": "HAMP",
"pos": [
4,
8
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
65,
8
]
} |
Two hundred and seven chronic hepatitis B (HB) patients, two hundred and twelve chronic asymptomatic hepatitis B virus (HBV) carriers (HBV carrier) and one hundred and forty-eight self-limited HBV infection were investigated for HLA-DRB1 and HLA-DQA1 alleles by sequence specific-polymerase chain reaction (PCR-SSP). | NA | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
229,
8
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
88,
12
]
} |
CLDN-4 and ZO-1 staining were detected in both types of tumors, whereas cingulin (CGN) was not detected in squamous cell carcinomas. | NA | {
"id": 57530,
"name": "CGN",
"pos": [
82,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
56,
6
]
} |
In addition to being defective for the tumor-suppressor function, mutant p53 contributes to malignancy by blocking a p53 family member p73. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
73,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
92,
10
]
} |
PDK1 induces JunB, EMT, cell migration and invasion in human gallbladder cancer. | biomarker | {
"id": 5163,
"name": "PDK1",
"pos": [
0,
4
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
43,
8
]
} |
Blood vessel endothelial cells in the peri-infarct region of ischemic brain displayed strong MIF immunoreactivity with no MIF immunoreactivity in control brains. | NA | {
"id": 268,
"name": "AMH",
"pos": [
122,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
43,
7
]
} |
The prognostic value of IL10 and TNF alpha functional polymorphisms in premenopausal early-stage breast cancer patients. | NA | {
"id": 3586,
"name": "IL10",
"pos": [
24,
4
]
} | {
"id": "C2986665",
"name": "Early-Stage Breast Carcinoma",
"pos": [
85,
25
]
} |
The tumor suppressor p53 is frequently mutated in human cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
4,
20
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
56,
6
]
} |
Finally, TSH-stimulated adhesion of thyroid tumor cell lines to ECM may not be associated with altered IRM expression. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
64,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
24,
8
]
} |
Role of central nicotinic and beta-adrenergic receptors in the onset and further development of tail-tremor induced by repeated nicotine administration to rats. | therapeutic | {
"id": 154,
"name": "ADRB2",
"pos": [
30,
26
]
} | {
"id": "C0234378",
"name": "Static Tremor",
"pos": [
101,
6
]
} |
Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. | NA | {
"id": 2965,
"name": "GTF2H1",
"pos": [
41,
4
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
109,
19
]
} |
The propositus, referred at age 2 for severe epistaxis and prolonged bleeding after a tongue bite, had factor VIII:C 14-21 IU/dL, VWF Antigen 3-8 IU/dL and Ristocetin Cofactor activity < 3 IU/dL. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
131,
3
]
} | {
"id": "C0241424",
"name": "Tongue biting",
"pos": [
87,
11
]
} |
The EGF polymorphism does not appear to predispose to melanoma or nevus development, but its significant association with tumor thickness implies that it may be a useful marker of prognosis. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
4,
3
]
} | {
"id": "C0027962",
"name": "Melanocytic nevus",
"pos": [
66,
5
]
} |
We report two infants with acute basophilic leukaemia associated with a t(X;6)(p11;q23) as the sole abnormality. | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
79,
3
]
} | {
"id": "C0023437",
"name": "Acute Basophilic Leukemia",
"pos": [
27,
26
]
} |
However it is not clear whether the DRB1*03 alleles have a direct causal role in the etiology of schizophrenia or if they are in direct linkage disequilibrium with another true susceptibility locus. | genomic_alterations | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
36,
4
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
97,
13
]
} |
Three hundred fifty-four patients (38.5%) had deficiency of antithrombin (AT, n = 16), protein C (PC, n = 26), protein S (PS, n = 22), factor V Leiden (FVL, n = 168), prothrombin G20210A (PT-GA, n = 87), or multiple abnormalities (n = 35), and 566 had none of the studied thrombophilic abnormalities. ] | NA | {
"id": 2153,
"name": "F5",
"pos": [
135,
15
]
} | {
"id": "C0000772",
"name": "Multiple congenital anomalies",
"pos": [
207,
22
]
} |
Early stage HDGC is characterized by a few, up to dozens of intramucosal foci of signet ring cell carcinoma and its precursor lesions. | NA | {
"id": 1829,
"name": "DSG2",
"pos": [
12,
4
]
} | {
"id": "C0206696",
"name": "Carcinoma, Signet Ring Cell",
"pos": [
81,
26
]
} |
Heterozygotes for the GHRH-R mutation appear to have a partial defect in the GH/IGF axis, with no apparent height impairment. | NA | {
"id": 2691,
"name": "GHRH",
"pos": [
22,
4
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
107,
6
]
} |
Responders appeared to polarize on the Th1 axis when clinical responses were plotted on Th1-Th2 dimensions according to the cytokine production profiles of TNF-alpha, IFN-gamma, IL-4 and IL-6 of ascites cells. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
167,
3
]
} | {
"id": "C0003962",
"name": "Ascites",
"pos": [
195,
7
]
} |
Studies focused on the aspartic acid substitution at amino acid position 12 (denoted D12), one of the most common mutations in colon adenocarcinoma. | NA | {
"id": 55850,
"name": "USE1",
"pos": [
85,
3
]
} | {
"id": "C0338106",
"name": "Adenocarcinoma of colon",
"pos": [
127,
20
]
} |
Physiological and chemical inducers of tissue factor pathway inhibitor-2 in human glioma cells. | NA | {
"id": 7035,
"name": "TFPI",
"pos": [
39,
31
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
82,
6
]
} |
In conclusion, to date, the USP9Y gene has been considered as one of the major Y-linked spermatogenesis genes, based on both its position within the AZFa region and previous reports that correlated USP9Y mutation to severe spermatogenic failure and infertility. | NA | {
"id": 8287,
"name": "USP9Y",
"pos": [
198,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
249,
11
]
} |
Mutations in the RNA- and DNA-binding proteins, fused in sarcoma (FUS) and transactive response DNA-binding protein 43 kDa (TDP-43), are responsible for 5-10% of familial and 1% of sporadic ALS cases. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
124,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
181,
8
]
} |
Our results implicate the involvement of AQP1 in DRG neurons for the perception of inflammatory thermal pain and cold pain, whose molecular basis is accounted for, in part, by reduced Na(v)1.8-dependent membrane Na(+) current. | NA | {
"id": 4733,
"name": "DRG1",
"pos": [
49,
3
]
} | {
"id": "C0009443",
"name": "Common Cold",
"pos": [
113,
4
]
} |
Spinal cords from nine ALS patients carrying SOD1 mutations, 51 patients with sporadic or familial ALS who lacked such mutations, and 46 controls were examined by immunohistochemistry. | NA | {
"id": 6647,
"name": "SOD1",
"pos": [
45,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
78,
8
]
} |
We investigated a group of 22 gallbladder carcinomas from Greek patients with regard to p53 mutations, bax and TGF-beta RII alterations--as indicators of microsatellite instability. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
111,
8
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
154,
26
]
} |
Overexpression of miR-181b inhibited importin-α3 expression and an enriched set of NF-κB-responsive genes such as adhesion molecules VCAM-1 and E-selectin in ECs in vitro and in vivo. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
144,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
114,
8
]
} |
In a previous study, we analyzed the SNPs in a group of predicted MIR137 target genes and detected genome-wide significant association of schizophrenia with rs2944829 in the CALN1 gene. | genomic_alterations | {
"id": 406928,
"name": "MIR137",
"pos": [
66,
6
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
138,
13
]
} |
We report on an ovarian cancer patient who carries a germline MSH2 c.1A>C variant which alters the translation initiation codon. | genomic_alterations | {
"id": 4436,
"name": "MSH2",
"pos": [
62,
4
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
16,
14
]
} |
The polymorphisms of IL6-597 G-->A, IL6-572 G-->C and IL6-174 G-->A and the bone mineral density in the lumbar spine and femoral neck were analysed and compared with their levels in healthy controls. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
54,
3
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
76,
20
]
} |
Perturbation of such functional crosstalk caused by genetic events observed in various hematologic cancers, such as inactivation of SNF5 and somatic mutation of UTX, confers PRC2 dependence, thus rendering an increased sensitivity to PRC2 inhibition. | NA | {
"id": 7403,
"name": "KDM6A",
"pos": [
161,
3
]
} | {
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
141,
16
]
} |
However, HO-1 transgenic mice had significantly attenuated ISO-induced cardiac dysfunction, interstitial fibrosis, and hypertrophy compared to control. | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
9,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
119,
11
]
} |
Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). | NA | {
"id": 10692,
"name": "RRH",
"pos": [
128,
3
]
} | {
"id": "C0854723",
"name": "Retinal Dystrophies",
"pos": [
197,
19
]
} |
The levels of hemoglobin at 6 h and platelet counts at 24 h after administration in Group A were higher than those in Group B. Serum interleukin (IL)-6, IL-1β and tumor necrotic factor (TNF)-α levels at 24 h after administration in Group A were lower than those in Group B. Serum C5b-9 levels at 24 h after the administration and serum fibrinogen degradation product (FDP) at 72 h after the administration of Stx2 and LPS were lower in Group A than in Group B. | NA | {
"id": 2054,
"name": "STX2",
"pos": [
409,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
169,
8
]
} |
In SRCT with EWSR1 translocation demonstrated by FISH, the RT-PCR analysis of specific sarcoma-related gene fusion can offer important clues for the diagnosis of specific entities, especially in tumours with unusual histopathology and/or IHC findings. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
49,
4
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
87,
7
]
} |
The amounts of CD4+, CD8+ and CD56+ and ThPOK+ cells infiltrate in normal colorectal mucosa (NM), in dysplastic aberrant crypt foci (microadenomas, MA), the earliest detectable lesions in colorectal carcinogenesis, and in colorectal carcinomas (CRC), were measured, and the colocalization of ThPOK with the above-mentioned markers of immune cells was evaluated using confocal microscopy. | NA | {
"id": 920,
"name": "CD4",
"pos": [
15,
3
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
199,
14
]
} |
Accumulation of CCR5+ T cells around RANTES+ granulomas in Crohn's disease: a pivotal site of Th1-shifted immune response? | NA | {
"id": 6352,
"name": "CCL5",
"pos": [
37,
6
]
} | {
"id": "C0018188",
"name": "Granuloma",
"pos": [
45,
10
]
} |
Adult mice lacking DCT displayed normal cardiac development but an increased susceptibility to atrial arrhythmias. | NA | {
"id": 1638,
"name": "DCT",
"pos": [
19,
3
]
} | {
"id": "C0085611",
"name": "Atrial arrhythmia",
"pos": [
95,
18
]
} |
Neuropeptide Y (NPY) participates in the control of several functions in the nervous system. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
16,
3
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
77,
14
]
} |
The results showed that CXCL12 could enhance the resistance of K562 cells to adriamycin (ADM) by increasing the expression of CXCR4, up-regulating the downstream PI3K/Akt pathway, and promoting translocation of NF-κB dimers into nucleus and subsequently decreasing the expression of apoptosis-related proteins in K562 cells. | NA | {
"id": 6387,
"name": "CXCL12",
"pos": [
24,
6
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
194,
13
]
} |
Ablation of the GNB3 gene in mice does not affect body weight, metabolism or blood pressure, but causes bradycardia. | NA | {
"id": 2784,
"name": "GNB3",
"pos": [
16,
9
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
50,
11
]
} |
Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. | genomic_alterations | {
"id": 5290,
"name": "PIK3CA",
"pos": [
18,
6
]
} | {
"id": "C0878675",
"name": "Erdheim-Chester Disease",
"pos": [
38,
23
]
} |
However, we are lack of the understanding of the effect of UbcH10 on cell proliferation, cell apoptosis, cell cycle and other functions in meningioma cells. | biomarker | {
"id": 11065,
"name": "UBE2C",
"pos": [
59,
6
]
} | {
"id": "C1762616",
"name": "Meningioma, benign, no ICD-O subtype",
"pos": [
139,
10
]
} |
We have determined the prevalence of classical (lipid profile, blood pressure, glycaemia, diabetes, smoking, body mass index, menopause and family history of coronary heart disease) and non-classical cardiovascular risk factors (infectious processes, homocysteinaemia, oxidative status, C-reactive protein, lipoprotein (a) and fibrinogen) in a population-based study. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
287,
18
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
327,
10
]
} |
In the present study, we analyzed the possible involvement of this ligand-receptor signalling system in hematopoiesis by examining the expression of both HTK and HTKL in a large and comprehensive panel of 70 continuous human leukemia-lymphoma cell lines. | NA | {
"id": 2050,
"name": "EPHB4",
"pos": [
154,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
234,
8
]
} |
MTHFR polymorphisms and Opisthorchis viverrini infection: a relationship with increased susceptibility to cholangiocarcinoma in Thailand. | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
0,
5
]
} | {
"id": "C0277005",
"name": "Opisthorchis viverrini Infection",
"pos": [
24,
32
]
} |
Although the majority of data seem to show that HCV carriers with normal ALT have mild and stable disease, with a favourable prognosis, several studies reported a significant progression of fibrosis in approximately 20-30% of the patients with ALT normality, and the development of HCC in some cases has been described, despite persistent ALT normality. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
282,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
82,
4
]
} |
This is the first report to show that the combination of current-smoking and harboring high-risk GSTM1, GSTP1 and/or GSTA1 genotypes is interactively associated with the risk of NAFLD. | NA | {
"id": 2938,
"name": "GSTA1",
"pos": [
117,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
65,
7
]
} |
Combination of 113His/His EPHX1/null-GSTM1 genotypes showed a significant association with the decrease of Δ FEV1 in patients (P =0.028).In conclusion, our results suggest combined EPHX1, GSTP1, GSTM1 and GSTT1 genetic polymorphisms may play a significant role in the development of COPD, emphysema and decline of the lung function. | genomic_alterations | {
"id": 2944,
"name": "GSTM1",
"pos": [
37,
5
]
} | {
"id": "C0034067",
"name": "Pulmonary Emphysema",
"pos": [
289,
9
]
} |
Five hundred twenty-one hypertensives of African origin sampled from a group with a high mean body mass index (BMI) had 24-hour ambulatory BP (ABP) measurements determined off therapy and were genotyped for the AGT -6G-->A, -532C-->T, -20A-->C, and 704T-->C (M235T) gene variants. | NA | {
"id": 26,
"name": "AOC1",
"pos": [
143,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
94,
15
]
} |
They also provide clinical evidence for a significant association between HER-2 Ile655Val SNP and serum TGF-I(2)1, resulting to more aggressive phenotype of the tumor and poor prognosis. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
74,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
161,
5
]
} |
In an examination of the acute inflammatory response, Csf1r(+/-) male mice were protected from the adverse affects of DSS-induced colitis compared with WT mice, while Csf1r(+/-) female mice were significantly less protected. | biomarker | {
"id": 1436,
"name": "CSF1R",
"pos": [
54,
5
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
130,
7
]
} |
Thus, the leukemia regulatory role of JMJD3 varies in a disease phase- and lineage-dependent manner, and acts as a potential oncorepressor in certain subsets of AML largely by coupling to C/EBPβ-centered myelopoietic program. | biomarker | {
"id": 1051,
"name": "CEBPB",
"pos": [
188,
6
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
161,
3
]
} |
We found evidence suggestive of an interaction between the NAT1 1095 polymorphism and lack of maternal multivitamin use that increased risks of isolated cleft lip with/without cleft palate. | NA | {
"id": 1982,
"name": "EIF4G2",
"pos": [
59,
4
]
} | {
"id": "C4321245",
"name": "Cleft lip or lips",
"pos": [
153,
9
]
} |
The purpose of the present study was to study the aromatase mRNA expression as well as promoter usage (I.4, I.3, PII and I.7) in axillary adipose tissue (AA), mammary adipose tissue (MA), breast tumor tissue (BT) and adjacent normal breast tissue (NB), and to study the relationship between aromatase mRNA expression and tumor necrosis factor (TNF)-alpha, interleukin (IL)-6 and cyclooxygenase (COX)-2 mRNA expression. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
395,
3
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
188,
12
]
} |
DNAJC6 (DNA/HSP40 homolog subfamily C member 6) encodes auxilin, which is responsible for juvenile Parkinsonism with phenotypic variability. | genomic_alterations | {
"id": 11080,
"name": "DNAJB4",
"pos": [
12,
13
]
} | {
"id": "C0752105",
"name": "Parkinsonism, Juvenile",
"pos": [
90,
21
]
} |
Effect of GPE-AGT nanoparticle shRNA transfection system mediated RNAi on early atherosclerotic lesion. | NA | {
"id": 2996,
"name": "GYPE",
"pos": [
10,
3
]
} | {
"id": "C4703473",
"name": "Atherosclerotic lesion",
"pos": [
80,
22
]
} |
This study investigated the correlation between p53 and merlin, a neurofibromatosis 2 (NF2)-related tumor suppressor, in association with the Mdm2 function. | genomic_alterations | {
"id": 4193,
"name": "MDM2",
"pos": [
142,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
100,
5
]
} |
Detection of Barrett's adenocarcinoma of the gastric cardia with sucrase isomaltase and p53. | biomarker | {
"id": 6476,
"name": "SI",
"pos": [
65,
18
]
} | {
"id": "C4283978",
"name": "Primary adenocarcinoma of lower third of esophagus due to Barrett esophagus",
"pos": [
13,
46
]
} |
While enamel hypoplasia and taurodontism appear to be present in all TDO cases, non-dental features may be absent, with approximately half of TDO cases losing the kinky/curly hair phenotype seen in infancy by adolescence, and in almost 20% of cases, osseous changes are not evident. | NA | {
"id": 6999,
"name": "TDO2",
"pos": [
142,
3
]
} | {
"id": "C0558165",
"name": "Curly hair (finding)",
"pos": [
169,
10
]
} |
UQCRH gene encoding mitochondrial Hinge protein is interrupted by a translocation in a soft-tissue sarcoma and epigenetically inactivated in some cancer cell lines. | NA | {
"id": 7388,
"name": "UQCRH",
"pos": [
0,
10
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
68,
13
]
} |
The hybrid cells in xenografted tumor were identified by FISH and GFP/RFP dual-immunofluoresence staining. | biomarker | {
"id": 2358,
"name": "FPR2",
"pos": [
70,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
32,
5
]
} |
Expression of a protein involved in bone resorption, Dkk1, is activated by HTLV-1 bZIP factor through its activation domain. | NA | {
"id": 22943,
"name": "DKK1",
"pos": [
53,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
36,
15
]
} |
Frameshift mutation of UVRAG: Switching a tumor suppressor to an oncogene in colorectal cancer. | genomic_alterations | {
"id": 7405,
"name": "UVRAG",
"pos": [
23,
5
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
77,
17
]
} |
Pharmacological administration of S1P to injured Pdgfb-iCreER/Foxf1(+/-)mice restored endothelial barrier function, decreased lung edema, and improved survival. | NA | {
"id": 2294,
"name": "FOXF1",
"pos": [
62,
5
]
} | {
"id": "C0034063",
"name": "Pulmonary Edema",
"pos": [
126,
10
]
} |
ARK5 suppresses the cell death induced by nutrient starvation and death receptors via inhibition of caspase 8 activation, but not by chemotherapeutic agents or UV irradiation. | NA | {
"id": 841,
"name": "CASP8",
"pos": [
100,
9
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
51,
10
]
} |
Thus, Mtbp is a previously unrecognized regulator of Myc-induced tumorigenesis. | NA | {
"id": 27085,
"name": "MTBP",
"pos": [
6,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
65,
13
]
} |
Thus, hypercapnia can attenuate cell apoptosis and oxidative stress damage in rat lungs during injurious ventilation, at least in part, due to the suppression of the ASK1-JNK/p38 MAPK pathways. | NA | {
"id": 5599,
"name": "MAPK8",
"pos": [
171,
3
]
} | {
"id": "C0020440",
"name": "Hypercapnia",
"pos": [
6,
11
]
} |
[Experimental study on combination of Ad-p53 with CDDP or As(2)O(3) in human lung adenocarcinoma cell line GLC-82]. | therapeutic | {
"id": 7157,
"name": "TP53",
"pos": [
2,
3
]
} | {
"id": "C0024121",
"name": "Lung Neoplasms",
"pos": [
77,
19
]
} |
In this paper, we study in detail the mechanisms for sensitization of malignant cells to Ab-based cancer immunotherapy by the REST68 peptide and the implications of the REST/NCL model for the design of treatment resulting in higher tumor susceptibility. | genomic_alterations | {
"id": 5978,
"name": "REST",
"pos": [
169,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
232,
5
]
} |
Using a pyrosequencing method, we determined that the tumor positive for mutated BRAF, uncovering a novel c.1799_1803delinsAT; p.V600-K601>D variant. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
81,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
54,
5
]
} |
We recently described hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome in 3 families with closely localized COL4A1 mutations. | NA | {
"id": 1282,
"name": "COL4A1",
"pos": [
144,
6
]
} | {
"id": "C0002940",
"name": "Aneurysm",
"pos": [
62,
8
]
} |
The four studies that investigated the association between filaggrin gene mutations and allergic rhinitis in people with atopic eczema reported a significant association: pooled odds ratio from case-control studies 2.84 (2.08 to 3.88). | genomic_alterations | {
"id": 2312,
"name": "FLG",
"pos": [
59,
9
]
} | {
"id": "C2607914",
"name": "Allergic rhinitis (disorder)",
"pos": [
88,
17
]
} |
BRCA mutated ovarian cancers show increased responsiveness to PARP inhibitors. | genomic_alterations | {
"id": 142,
"name": "PARP1",
"pos": [
62,
4
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
13,
15
]
} |
We retrospectively analyzed specific polymorphisms in genes for interleukin (IL)-10, IL-6, tumor-necrosis factor alpha (TNF-α) and interferon gamma (IFN-γ) in a pediatric cohort of 57 histocompatibility leucocyte antigen (HLA)-identical sibling myeloablative transplants. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
149,
3
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
97,
8
]
} |
Our results indicated that hypoxia and L-mimosine modulated Btg2 and Ndrg1 at the transcriptional level, which is dependent on HIF-1α. | NA | {
"id": 7832,
"name": "BTG2",
"pos": [
60,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
27,
7
]
} |
Inhibition of gastric cancer angiogenesis by vector-based RNA interference for Raf-1. | biomarker | {
"id": 6037,
"name": "RNASE3",
"pos": [
79,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
14,
14
]
} |
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. ]) | NA | {
"id": 270,
"name": "AMPD1",
"pos": [
26,
3
]
} | {
"id": "C1859778",
"name": "Postnatal growth retardation",
"pos": [
88,
28
]
} |
Parathyroid Hormone-Like Hormone is a Poor Prognosis Marker of Head and Neck Cancer and Promotes Cell Growth via RUNX2 Regulation. | biomarker | {
"id": 5744,
"name": "PTHLH",
"pos": [
0,
32
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
63,
20
]
} |
Factors involved in migration, proliferation, adhesion and differentiation of vascular smooth muscle cells (SMC) play a major role during atherosclerosis development. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
108,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
46,
8
]
} |
High frequency of discordant EGFR mutations (17 of 24, 70.8%) could discriminate tumor clonality (18 of 24, 75%) of multiple lung neoplastic nodules presented as GGO. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
29,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
81,
5
]
} |
The effects of drug-bearing nano-SHAP on cell proliferation were assessed using three human oral squamous cell carcinoma cell lines (HSC-4, KOSC, and SAS) and one human breast cancer cell line (MCF-7). | biomarker | {
"id": 6302,
"name": "TSPAN31",
"pos": [
150,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
169,
13
]
} |
A sub-study of a genome-wide association study with imputation aiming to replicate the finding at PLCXD3 including 129 vCJD and 2500 sCJD samples. | genomic_alterations | {
"id": 345557,
"name": "PLCXD3",
"pos": [
98,
6
]
} | {
"id": "C1852467",
"name": "Creutzfeldt-Jakob Disease, Sporadic",
"pos": [
133,
4
]
} |
In contrast, we observed a significant elevation in postprandial haptoglobin (165%) (p < 0.001) in obese rats supplemented with 10% n-3 PUFA. | therapeutic | {
"id": 3240,
"name": "HP",
"pos": [
65,
11
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
102,
5
]
} |
ACTH increased plasma DLS (+132 +/- 18 pg/mL, P < .01), and there was a positive correlation between DLS and blood pressure (r = 0.68, n = 22, P < .001). | NA | {
"id": 5443,
"name": "POMC",
"pos": [
0,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
109,
14
]
} |
Molecular genetic analysis in a Belgian family with distal hereditary motor neuropathy type II (distal HMN II), demonstrated significant linkage of markers located at chromosome 12q24. | genomic_alterations | {
"id": 26353,
"name": "HSPB8",
"pos": [
103,
6
]
} | {
"id": "C3711384",
"name": "Distal Hereditary Motor Neuropathy, Type II",
"pos": [
52,
42
]
} |
Inhibitor treatment of metalloproteinases, as well as short hairpin RNA-mediated knockdown of Mmp14 strongly impacted TIC characteristics, including tumor initiation, cell growth, migration, and invasion, especially in starved environments. | biomarker | {
"id": 4323,
"name": "MMP14",
"pos": [
94,
5
]
} | {
"id": "C0598935",
"name": "Tumor Initiation",
"pos": [
149,
16
]
} |
IL-6 induction of TLR-4 gene expression via STAT3 is one of the main mechanisms underlying insulin resistance in human skeletal muscle. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
44,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
91,
18
]
} |
The pathogenicity of the translocation may rest on collaborations among JAK2V617F-induced constitutive activation of JAK2, the oncogenic property of HMGA2, and disrupted pathways, such as alteration in DJ-1 expression, resulting from the impact of EFCAB6 abrogation. | NA | {
"id": 3717,
"name": "JAK2",
"pos": [
117,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
25,
13
]
} |
Recent genomic studies have shown that mutations within components of G protein-coupled receptor (GPCR) signaling are early events associated with approximately 98% of uveal melanomas.<b>Implications:</b> This review discusses the alterations in GPCR signaling components (GNAQ and GNA11), dysregulated GPCR signaling cascades, and viable targeted therapies with the intent to provide insight into new therapeutic strategies in uveal melanoma.<i></i>. | genomic_alterations | {
"id": 57007,
"name": "ACKR3",
"pos": [
70,
26
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
174,
9
]
} |
Although epithelial-mesenchymal transition (EMT) and the subsequent development of peritoneal fibrosis are key processes leading to the peritoneal failure related to peritoneal dialysis (PD), mechanisms underlying these processes remain largely unclear. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
44,
3
]
} | {
"id": "C0521607",
"name": "Peritoneal Fibrosis",
"pos": [
83,
19
]
} |
Expression of multidrug resistance genes MVP, MDR1, and MRP1 determined sequentially before, during, and after hyperthermic isolated limb perfusion of soft tissue sarcoma and melanoma patients. | biomarker | {
"id": 4437,
"name": "MSH3",
"pos": [
56,
4
]
} | {
"id": "C4551687",
"name": "Sarcoma of soft tissue",
"pos": [
151,
19
]
} |
pVHL binding to HIF-1alpha is lost under low O2 tension, leading to transcription of several genes involved in the hypoxia response. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
16,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
115,
7
]
} |
A mutually independent heterozygous hOGG1 and XRCC1 combination resulted in a decreased risk of HBV related liver disease. | genomic_alterations | {
"id": 4968,
"name": "OGG1",
"pos": [
36,
5
]
} | {
"id": "C0023895",
"name": "Liver diseases",
"pos": [
108,
13
]
} |