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|---|---|---|---|
Kallistatin inhibited Wnt3a-induced proliferation, migration, and invasion of cultured breast cancer cells. | NA | {
"id": 5267,
"name": "SERPINA4",
"pos": [
0,
11
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
87,
13
]
} |
Studies have shown that the Nod-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome contributes to PAH pathogenesis, but the role of the upstream molecular P2X<sub>7</sub> receptor (P2X<sub>7</sub>R) has remained unexplored. | biomarker | {
"id": 114548,
"name": "NLRP3",
"pos": [
81,
5
]
} | {
"id": "C3203102",
"name": "Idiopathic pulmonary arterial hypertension",
"pos": [
116,
3
]
} |
The p36 region of chromosome one has been reported to have frequent loss of heterozygosity (LOH) in brain and central nervous system (CNS) tumors and epidemiological studies have shown an increased relative risk of BC and tumors of the CNS in PC families. | genomic_alterations | {
"id": 51251,
"name": "NT5C3A",
"pos": [
4,
3
]
} | {
"id": "C0153633",
"name": "Malignant neoplasm of brain",
"pos": [
215,
2
]
} |
Our data indicate that the novel variant MDM4-B may play a role in glioma tumorigenesis or cancer progression. | NA | {
"id": 4194,
"name": "MDM4",
"pos": [
41,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
74,
13
]
} |
We have previously observed in vitro that some stromal proteinases (MMP-2, MT1-MMP) were expressed or activated by invasive carcinoma cell lines exhibiting mesenchymal features, presumably acquired through an epithelial to mesenchymal transition (EMT). | NA | {
"id": 4323,
"name": "MMP14",
"pos": [
75,
7
]
} | {
"id": "C1334274",
"name": "Invasive Carcinoma",
"pos": [
115,
18
]
} |
The aim of the study was to evaluate the renin-angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart rate variability during a head-up tilt test (HUT) in patients with vasovagal syncope. | NA | {
"id": 6532,
"name": "SLC6A4",
"pos": [
70,
21
]
} | {
"id": "C0018810",
"name": "heart rate",
"pos": [
153,
10
]
} |
Eight diffuse astrocytomas and 19 glioblastomas (WHO IV) were analyzed to determine if TIMP-1 and NM23-H1 were candidates to inhibition of tumor cell invasion quantitated RNA levels. | biomarker | {
"id": 7076,
"name": "TIMP1",
"pos": [
87,
6
]
} | {
"id": "C0004114",
"name": "Astrocytoma",
"pos": [
14,
12
]
} |
The addition of HU-210 prior to ischemia reduced the creatine phosphokinase (CPK) level in the coronary effluent and decreased left ventricular developed pressure. | NA | {
"id": 5286,
"name": "PIK3C2A",
"pos": [
77,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
32,
8
]
} |
One patient had compound heterozygous mutations in RDH5 and suffered from FAP with mild maculopathy. | NA | {
"id": 5959,
"name": "RDH5",
"pos": [
51,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
83,
4
]
} |
We investigated the role of promoter CpG methylation in the regulation of AURKC gene expression in human cancer cells, in relation to a recently reported AURKC transcription repressor PLZF/ZBTB16, implicated in transformation and tumorigenesis. | NA | {
"id": 7704,
"name": "ZBTB16",
"pos": [
189,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
230,
13
]
} |
Sixty-one infiltrating ductal breast carcinomas with foci of ductal carcinoma in situ (DCIS) components were selected for dual-colour FISH. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
134,
4
]
} | {
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
61,
24
]
} |
Forty-eight long-term disease-free chronic myelogenous leukemia (CML) patients, who had received unmanipulated allogeneic bone marrow transplants (BMT) for eradication of the Philadelphia (Ph1)-positive clone were studied by polymerase chain reaction (PCR), using a very sensitive PCR procedure and very stringent criteria for preventing and revealing contamination. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
189,
3
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
35,
28
]
} |
Asxl1(+/-) mice also developed mild MDS-like disease, which could progress to MDS/myeloproliferative neoplasm, demonstrating a haploinsufficient effect of Asxl1 in the pathogenesis of myeloid malignancies. | NA | {
"id": 171023,
"name": "ASXL1",
"pos": [
155,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
31,
4
]
} |
To investigate whether polymorphisms in genes coding for mannose-binding lectin (MBL) and surfactant protein-D (SP-D) are associated directly or by interaction with smoking with rheumatoid arthritis (RA), anti-citrullinated peptide antibody (ACPA) positive RA, and erosive RA. | NA | {
"id": 4153,
"name": "MBL2",
"pos": [
81,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
165,
7
]
} |
Here we report the family-based association analysis of a cis-regulatory lymphotoxin-alpha polymorphism with parasitemia in two independent populations living in Burkina Faso. | genomic_alterations | {
"id": 4049,
"name": "LTA",
"pos": [
73,
17
]
} | {
"id": "C0242723",
"name": "Parasitemia",
"pos": [
109,
11
]
} |
By genotyping of 921 metabolically characterized German subjects for the reported candidate single nucleotide polymorphisms (SNPs), we show that the major alleles of the SLC30A8 SNP rs13266634 and the HHEX SNP rs7923837 associate with reduced insulin secretion stimulated by orally or intravenously administered glucose, but not with insulin resistance. | NA | {
"id": 3087,
"name": "HHEX",
"pos": [
201,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
334,
18
]
} |
We included polymorphisms in the XPC, XPA and XPD genes involved in the nucleotide excision DNA repair pathway and analysed possible interactions with smoking and dietary intake of fruit and vegetables in relation to risk for lung cancer. | NA | {
"id": 7507,
"name": "XPA",
"pos": [
38,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
151,
7
]
} |
A monoclonal and a polyclonal antibody directed against different regions of CFTR were used to localize the CFTR protein in normal and CF airway epithelium derived from polyps of non-CF and CF subjects homozygous for the delta Phe 508 CFTR mutation. | NA | {
"id": 1080,
"name": "CFTR",
"pos": [
235,
4
]
} | {
"id": "C0032584",
"name": "polyps",
"pos": [
169,
6
]
} |
Despite the low number of cases in the own cohort, the data collected revealed that the allele 1 of the IL-1B polymorphism in patients with sporadic EARR did not contribute to predisposition, in contrast to familial cases. | NA | {
"id": 3553,
"name": "IL1B",
"pos": [
104,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
140,
8
]
} |
LEPR polymorphisms may be a marker for susceptibility to essential hypertension in Chinese subjects, and be involved in the development of several features including dyslipidemia and impaired glucose regulation in hypertension subjects. | genomic_alterations | {
"id": 3953,
"name": "LEPR",
"pos": [
0,
4
]
} | {
"id": "C0020538",
"name": "Hypertensive disease",
"pos": [
214,
12
]
} |
In the past few years, a number of case-control studies have been carried out to investigate the relationship between the GCKR polymorphism and type 2 diabetes (T2D) since it was first identified to be associated with fasting plasma glucose levels, insulin resistance through genome-wide association approach. | NA | {
"id": 2646,
"name": "GCKR",
"pos": [
122,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
249,
18
]
} |
Variations of GRIN1 have been identified as a risk factor for schizophrenia and drug dependence, supporting hypotheses of glutamatergic dysfunction in these disorders. | NA | {
"id": 114787,
"name": "GPRIN1",
"pos": [
14,
5
]
} | {
"id": "C1510472",
"name": "Drug Dependence",
"pos": [
80,
15
]
} |
The high-risk (hr) HPV-positive rate was 88.4% for CxCa and 90.1% for CIN 2/3. | genomic_alterations | {
"id": 57026,
"name": "PDXP",
"pos": [
70,
3
]
} | {
"id": "C4048328",
"name": "cervical cancer",
"pos": [
51,
4
]
} |
[Analysis of heterozygosity levels at P1,TF, PGM1, ACP1, HP, GC, GLO, C3, and ESD loci in pulmonary tuberculosis patients with different treatment outcomes]. | NA | {
"id": 2098,
"name": "ESD",
"pos": [
78,
3
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
90,
22
]
} |
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. | genomic_alterations | {
"id": 5310,
"name": "PKD1",
"pos": [
25,
4
]
} | {
"id": "C1855496",
"name": "Contiguous gene syndrome",
"pos": [
98,
24
]
} |
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. | NA | {
"id": 6862,
"name": "TBXT",
"pos": [
34,
6
]
} | {
"id": "C0007194",
"name": "Hypertrophic Cardiomyopathy",
"pos": [
90,
27
]
} |
Here we investigated the snoRNA repertoires in the PWS locus of 12 mammalian genomes and their evolution processes. | biomarker | {
"id": 85390,
"name": "SNORD14D",
"pos": [
25,
6
]
} | {
"id": "C0032897",
"name": "Prader-Willi Syndrome",
"pos": [
51,
3
]
} |
Accordingly, Nlrx1(-/-) mice infected with DNA viruses exhibit enhanced innate immunity and reduced viral load. | NA | {
"id": 79671,
"name": "NLRX1",
"pos": [
13,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
100,
10
]
} |
However, unanswered questions remain regarding how the absence of DOCK8 also leads to high IgE and allergic disease, predisposition for malignancy, and unusual clinical features, such as CNS abnormalities and autoimmunity, observed in some patients. | NA | {
"id": 81704,
"name": "DOCK8",
"pos": [
66,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
191,
13
]
} |
Relationship between albuminuria and fibrinogenemia may be modified by the genotype LPL PvuII, which also shows a weak association with plasma fibrinogen level in type 2 diabetes patients. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
84,
3
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
163,
15
]
} |
This study aimed to assess the biologic significance of p53, heat shock protein 70 (Hsp70), Ki67, and CD34 and their influence on survival in patients with tongue cancer. | NA | {
"id": 947,
"name": "CD34",
"pos": [
102,
4
]
} | {
"id": "C0153349",
"name": "Malignant neoplasm of tongue",
"pos": [
156,
13
]
} |
Radiation mediated increase of nuclear YB-1 in glioma cells enhanced the oncolytic potential of adenovirus dl520. | NA | {
"id": 4904,
"name": "YBX1",
"pos": [
39,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
96,
10
]
} |
A dramatic enlargement of sympathetic ganglia is observed in AlkF1178L mice from embryonic to adult stages associated with an increased proliferation of sympathetic neuroblasts from E14.5 to birth. | NA | {
"id": 4863,
"name": "NPAT",
"pos": [
182,
3
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
11,
11
]
} |
Cytogenetic and molecular analysis of infertile Chinese men: karyotypic abnormalities, Y-chromosome microdeletions, and CAG and GGN repeat polymorphisms in the androgen receptor gene. | NA | {
"id": 199720,
"name": "GGN",
"pos": [
128,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
72,
13
]
} |
Despite nearly two decades passing since the discovery of gene fusions involving TFE3 or TFEB in sporadic renal cell carcinoma (RCC), the molecular mechanisms underlying the renal-specific tumorigenesis of these genes remain largely unclear. | NA | {
"id": 7030,
"name": "TFE3",
"pos": [
81,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
189,
13
]
} |
We also investigated patients presenting at birth with congenital hypothyroidism (CH) and a eutopic thyroid gland for phosphocalcium abnormalities suggesting PTH resistance and PHP. | NA | {
"id": 5741,
"name": "PTH",
"pos": [
158,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
133,
13
]
} |
The distributions of genotypes for each candidate gene (beta3-AR, UCP1 and LPL) were similar between the obese and the lean subjects. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
75,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
105,
5
]
} |
Their interdependence and influence on event-free survival was tested uni- and multivariately using Pearson's chi 2-test, Kaplan-Meier estimates, log rank tests and the Cox's regression model. | NA | {
"id": 1351,
"name": "COX8A",
"pos": [
169,
5
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
175,
10
]
} |
MALAT1 promoted the IH progression through inhibiting miR-424 to activate MEKK3-mediated IKK/NF-κB pathway, suggesting that MALAT1, miR-424 and MEKK3 could be used as potential targets to improve IH treatment efficiency. | biomarker | {
"id": 494336,
"name": "MIR424",
"pos": [
54,
7
]
} | {
"id": "C0206733",
"name": "Strawberry nevus of skin",
"pos": [
20,
2
]
} |
Furthermore, restoration of miR-33b expression inhibited lung adenocarcinoma cell proliferation, migration, and invasion and tumor cell epithelial-mesenchymal transition (EMT) in vitro. | NA | {
"id": 3702,
"name": "ITK",
"pos": [
171,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
57,
19
]
} |
Thus our report identifies two novel loss-of-function mutations (c.151delG in URAT1 and p.P516T in GLUT9) which cause RHUC and renal dysfunction in two independent RHUC pedigrees. | genomic_alterations | {
"id": 116085,
"name": "SLC22A12",
"pos": [
78,
5
]
} | {
"id": "C1565489",
"name": "Renal Insufficiency",
"pos": [
127,
17
]
} |
These data support the involvement of COL1A1 in determination of bone density and the interaction of both COL1A1 and VDR with calcium intake in regulation of change of bone density over time. | NA | {
"id": 1277,
"name": "COL1A1",
"pos": [
106,
6
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
168,
12
]
} |
Pituitary adenylate cyclase activating polypeptide (PACAP) has several different actions in the nervous system. | NA | {
"id": 116,
"name": "ADCYAP1",
"pos": [
52,
5
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
96,
14
]
} |
The tumor volume and weight of nude mice HCC xenograft tumors were reduced significantly either (p < 0.05, respectively). | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
41,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
21,
6
]
} |
Thus, BLTR is the sole receptor for LTB(4)-induced inflammation in mice. | NA | {
"id": 4050,
"name": "LTB",
"pos": [
36,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
51,
12
]
} |
Taken together, these data suggest that most GJB1 mutations cause neuropathy by a loss of normal connexin 32 function. | genomic_alterations | {
"id": 2705,
"name": "GJB1",
"pos": [
45,
4
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
66,
10
]
} |
Fifteen single nucleotide polymorphisms within BMP4, FGF3, FGF10, FGFR1 genes were investigated in 138 elite volleyball athletes, aged between 18 and 35 years, who undergo 4-5h of training per day: 52 with tendinopathy and 86 with no history of pain suggestive of tendinopathy in patellar, Achilles, shoulder, and hip abductors tendons. | NA | {
"id": 2248,
"name": "FGF3",
"pos": [
53,
4
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
245,
4
]
} |
Using the interphase cytogenetic FISH approach with a disease specific set of probes, chromosome aberrations can be found in more than 80% of CLL cases. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
33,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
86,
22
]
} |
We found that transcription of HIF-2α was consistently increased by hypoxia, whereas transcription of HIF-1α showed variable levels of repression. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
102,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
68,
7
]
} |
Overwhelming evidence has demonstrated that TSLC1 (tumor suppressor in lung cancer 1), a novel tumor suppressor, is crucially implicated in various biological processes including progression, proliferation and apoptosis during tumorigenesis. | NA | {
"id": 23705,
"name": "CADM1",
"pos": [
51,
33
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
227,
13
]
} |
We show that loss or reduced expression of death-associated protein kinase 1 (DAPK1) underlies cases of heritable predisposition to CLL and the majority of sporadic CLL. | NA | {
"id": 1612,
"name": "DAPK1",
"pos": [
78,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
156,
8
]
} |
Here, we present a multisystem analysis of an SCN1A mouse model carrying the NaV1.1-R1648H mutation, which causes febrile seizures and epilepsy in humans. | genomic_alterations | {
"id": 6323,
"name": "SCN1A",
"pos": [
46,
5
]
} | {
"id": "C0009952",
"name": "Febrile Convulsions",
"pos": [
114,
16
]
} |
We find that the three RAS genes are themselves YAP-TEAD1 transcriptional targets, providing a novel mechanism of promotion of RAS-induced tumorigenesis. | NA | {
"id": 10413,
"name": "YAP1",
"pos": [
48,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
139,
13
]
} |
En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
124,
4
]
} | {
"id": "C0555198",
"name": "Malignant Glioma",
"pos": [
29,
17
]
} |
Impaired LV function in the HET mice was associated with increases in infarct size, hypertrophy, apoptosis, inflammation, and interstitial fibrosis, and reduced capillary density. | NA | {
"id": 6294,
"name": "SAFB",
"pos": [
28,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
108,
12
]
} |
Additionally, non-tumor cells harboring p53 mutations may gain some survival advantage in situ but mutations in the domains responsible for the formation of structural elements critical in binding DNA may be necessary for a cell to reach full malignancy. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
40,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
243,
10
]
} |
In transgenic mouse models, the Grp78 promoter-driven transgene is largely quiescent in major adult organs but highly active in cancer cells and cancer-associated macrophages, which can diffuse to tumor necrotic sites devoid of vascular supply and facilitate cell-based therapy. | NA | {
"id": 3309,
"name": "HSPA5",
"pos": [
32,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
203,
8
]
} |
The KIF24 rs17350674 polymorphism likely acts as a risk factor for sporadic FTLD, but a replication study would be needed to confirm these preliminary findings. | NA | {
"id": 347240,
"name": "KIF24",
"pos": [
4,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
67,
8
]
} |
Evaluation of the adenocarcinoma-associated gene AGR2 and the intestinal stem cell marker LGR5 as biomarkers in colorectal cancer. | biomarker | {
"id": 10551,
"name": "AGR2",
"pos": [
49,
4
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
18,
14
]
} |
Given the role of inflammation in atherosclerosis, the contribution of functional polymorphisms of cytokines to cardiovascular diseases (CVD) was assessed in RTR in this study. | NA | {
"id": 2649,
"name": "NR6A1",
"pos": [
158,
3
]
} | {
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
112,
23
]
} |
Importantly, Tcl1 knockdown enhanced the sensitivity of HCC to sorafenib, whereas G6PD knockdown inhibited hepatocarcinogenesis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
56,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
107,
20
]
} |
These results suggest that the CC genotype of the TGF-β1 gene increases the risk to develop LOAD and is also associated with depressive symptoms in AD. | genomic_alterations | {
"id": 7040,
"name": "TGFB1",
"pos": [
50,
6
]
} | {
"id": "C0086132",
"name": "Depressive Symptoms",
"pos": [
125,
19
]
} |
The intact genotype was associated with a reduced likelihood of a CD4+T cell count<200 cells/μL (aOR=0.2) but a higher prevalence of TTV co-infection (aOR=8.6). | NA | {
"id": 920,
"name": "CD4",
"pos": [
66,
3
]
} | {
"id": "C0275524",
"name": "Coinfection",
"pos": [
137,
12
]
} |
This study suggests that, at least in the Korean population, the GSTM1 polymorphism may confer susceptibility to the development of schizophrenia but not to tardive dyskinesia. | genomic_alterations | {
"id": 2944,
"name": "GSTM1",
"pos": [
65,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
132,
13
]
} |
In an attempt to explore the therapeutic significance of FPRs, we used wild-type human glioblastoma cells (U87), the corresponding FPR short-interfering RNA transfected (siRNA U87) cells, and mock-transfected U87 cells (mock U87) to establish xenografts in mice brains. | NA | {
"id": 677775,
"name": "SCARNA5",
"pos": [
225,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
87,
12
]
} |
Activated mammalian target of rapamycin is associated with T regulatory cell insufficiency in nasal polyps. | biomarker | {
"id": 2475,
"name": "MTOR",
"pos": [
10,
29
]
} | {
"id": "C0027430",
"name": "Nasal Polyps",
"pos": [
94,
12
]
} |
Furthermore, CTRP1 levels were positively correlated to insulin secretion, while negatively to insulin sensitivity, as measured by OGTT. | NA | {
"id": 114897,
"name": "C1QTNF1",
"pos": [
13,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
95,
19
]
} |
These findings demonstrate a general tumor suppression function for NHEJ, and reveal that interplay between NHEJ and Trp53 loss of heterozygosity influences the sequence of multi-hit oncogenesis. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
117,
5
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
179,
3
]
} |
The widespread pituitary adenoma expression of SSTR3, regardless of hormonal secretory type, suggests that SSTR3 might be involved in a somatostatin action(s) other than GH or TSH regulation. | NA | {
"id": 6753,
"name": "SSTR3",
"pos": [
47,
5
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
15,
17
]
} |
Forced vital capacity (FVC) and radiologic features were associated with miR-21 and miR-155 expression in serum (p < 0.05). | NA | {
"id": 406991,
"name": "MIR21",
"pos": [
73,
6
]
} | {
"id": "C0042834",
"name": "Vital capacity",
"pos": [
7,
14
]
} |
The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma. | NA | {
"id": 4026,
"name": "LPP",
"pos": [
85,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
150,
13
]
} |
The reported effects of the glutathione S-transferase (GSTs) genes (GSTM1, GSTT1, and GSTP1) on male factor infertility have been inconsistent and even contradictory. | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
75,
5
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
108,
11
]
} |
Small-fiber neuropathy (SFN) is characterized by injury to small-diameter peripheral nerve axons and intraepidermal nerve fibers (IENF). | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
24,
3
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
12,
10
]
} |
Thrombospondin enhances RANKL-dependent osteoclastogenesis and facilitates lung cancer bone metastasis. | biomarker | {
"id": 8600,
"name": "TNFSF11",
"pos": [
24,
5
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
75,
11
]
} |
The case with homozygous deletion of TEL is also consistent with this gene having qualities of a tumor suppressor. | genomic_alterations | {
"id": 2120,
"name": "ETV6",
"pos": [
37,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
97,
5
]
} |
Furthermore, we revealed that the expressions of IL15, CCL5, IL1A, IL23R and TLR5 are down-regulated in keratinocytes expressing Cx26-D50N, suggesting that immune deficiency in KID syndrome expressing Cx26-D50N might be associated not only with skin barrier defects, but also with the down-regulated expression of immune response-related genes. | genomic_alterations | {
"id": 2706,
"name": "GJB2",
"pos": [
201,
4
]
} | {
"id": "C0265336",
"name": "Senter syndrome",
"pos": [
177,
12
]
} |
HLA studies demonstrate that the Roman celiac group has a high proportion of people with DR3-negative celiac disease in whom the combination DR5/7 is frequently found. | NA | {
"id": 8718,
"name": "TNFRSF25",
"pos": [
89,
3
]
} | {
"id": "C0007570",
"name": "Celiac Disease",
"pos": [
102,
14
]
} |
EGFR is required for FOS-dependent bone tumor development via RSK2/CREB signaling. | biomarker | {
"id": 2353,
"name": "FOS",
"pos": [
21,
3
]
} | {
"id": "C0005967",
"name": "Bone neoplasms",
"pos": [
35,
10
]
} |
Collectively, these data suggest that the cAMP/Rap1B/B-Raf pathway modulates the expression of p27 and the cytoplasmic mislocalization of p27-cyclin D1 in tuberous sclerosis gene-regulated-renal cancer. | NA | {
"id": 5908,
"name": "RAP1B",
"pos": [
47,
5
]
} | {
"id": "C0041341",
"name": "Tuberous Sclerosis",
"pos": [
155,
18
]
} |
Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities including mental retardation. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
33,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
142,
18
]
} |
The acidosis-mediated transient increase in IL-8 expression involved both transcriptional activation of the IL-8 gene and enhanced stability of the IL-8 mRNA. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
148,
4
]
} | {
"id": "C0001122",
"name": "Acidosis",
"pos": [
4,
8
]
} |
Identification of patients with transitional cell carcinoma of the bladder overexpressing ErbB2, ErbB3, or specific ErbB4 isoforms: real-time reverse transcription-PCR analysis in estimation of ErbB receptor status from cancer patients. | NA | {
"id": 2066,
"name": "ERBB4",
"pos": [
116,
5
]
} | {
"id": "C0279680",
"name": "Transitional cell carcinoma of bladder",
"pos": [
32,
42
]
} |
To assess the combined effect of both variants, we screened 246 unrelated Lynch syndrome patients with a pathogenic germline mutation either in MSH2 (n=138) or in MLH1 (n=108) and colorectal cancer as first tumour, and 245 healthy controls. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
163,
4
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
180,
17
]
} |
Tg worms pan-neuronally overexpressing nonphosphorylatable (S129A) α-synuclein showed severe defects including motor dysfunction, growth retardation, and synaptic abnormalities. | NA | {
"id": 6622,
"name": "SNCA",
"pos": [
67,
11
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
163,
13
]
} |
RUNX3 overexpression was found to downregulate HIF-1α stability under normoxic and hypoxic conditions. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
47,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
83,
7
]
} |
In conclusion, we demonstrated that TNF-alpha is an important regulator of A2bR, and during inflammation, upregulation of TNF-alpha may potentiate adenosine-mediated responses. | NA | {
"id": 136,
"name": "ADORA2B",
"pos": [
75,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
92,
12
]
} |
In this series, 81% of cases had chromosome 8 abnormalities including i(8)(q10)[43%]/t(8;8)(p12;q11)[14%], + 8[14%], and 8p + [14%]. | NA | {
"id": 27161,
"name": "AGO2",
"pos": [
75,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
46,
13
]
} |
We analyzed gene expression of MBD1, MBD2, MBD3, MBD4, and MeCP2 and protein expression of MBD1, MBD2, and MeCP2 in prostate cancer cell lines, benign prostate epithelium (BPH-1) cell line, 49 BPH tissues, and 46 prostate cancer tissues. | NA | {
"id": 64174,
"name": "DPEP2",
"pos": [
97,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
213,
15
]
} |
Experimental studies have shown that osteoprotegerin (OPG) gene knockout mice have aortic calcification and osteoporosis at the same time. | NA | {
"id": 4982,
"name": "TNFRSF11B",
"pos": [
54,
3
]
} | {
"id": "C1096249",
"name": "Calcification of the aorta",
"pos": [
83,
20
]
} |
179 sporadic nonsyndromic hearing loss children were subjected to microarray-based mutation detection for nine hot spot mutations in four of the most common deafness-related genes, including GJB2, SLC26A4, GJB3, and 12s rRNA. | NA | {
"id": 2706,
"name": "GJB2",
"pos": [
191,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
4,
8
]
} |
PPARγ and PPARGC1B polymorphisms modulate the association between phthalate exposure and BC risk. | genomic_alterations | {
"id": 133522,
"name": "PPARGC1B",
"pos": [
10,
8
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
89,
2
]
} |
15d-PGJ2 suppressed Prm3 transcriptional activity and TPbeta mRNA expression in the platelet progenitor megakaryocytic human erythroleukemia (HEL) 92.1.7 cell line but had no effect on Prm1 or Prm2 activity or on TPalpha mRNA expression. | NA | {
"id": 58531,
"name": "PRM3",
"pos": [
20,
4
]
} | {
"id": "C0023440",
"name": "Acute Erythroblastic Leukemia",
"pos": [
125,
15
]
} |
Expression of matrix metalloproteinase-2 and 9 (MMP-2 and 9), tissue inhibitor of metalloproteinase-1 (TIMP-1), macrophage chemoattractant protein-1 (MCP-1), vascular cell adhesion molecule-1 (VCAM-1), nuclear factor κB (NF-κB), endothelial nitric oxide synthase (eNOS), B-cell leukemia/lymphoma-2 (Bcl-2), and inducible nitric oxide synthase (iNOS) were analyzed by quantitative real-time polymerase chain reaction. | NA | {
"id": 4846,
"name": "NOS3",
"pos": [
229,
33
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
287,
8
]
} |
We show that Net1 makes fundamental contributions to mammary gland tumorigenesis and metastasis. | biomarker | {
"id": 10276,
"name": "NET1",
"pos": [
13,
4
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
67,
13
]
} |
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. | NA | {
"id": 11107,
"name": "PRDM5",
"pos": [
34,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
17,
13
]
} |
These results indicate that in STZ-induced diabetic rats, depressed pancreatic GAT activity was ameliorated by insulin treatment, consequently the level of serum GAA was restored and that GAA might be released from the acinar pancreas, resulting in higher concentration of serum GAA in acute pancreatitis rats. | NA | {
"id": 6484,
"name": "ST3GAL4",
"pos": [
31,
3
]
} | {
"id": "C0001339",
"name": "Acute pancreatitis",
"pos": [
286,
18
]
} |
Significant (P < .05) decreases in mRNA expression of genes related to hyperplasia (K16 and MKI67), T cells, and dendritic cells (CD1b and CD1c) and potent inhibition of TH2-associated chemokines (CCL17, CCL18, CCL22, and CCL26) were noted without significant modulation of TH1-associated genes (IFNG). | NA | {
"id": 911,
"name": "CD1C",
"pos": [
139,
4
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
71,
11
]
} |
HLA-B45, -B49, and -B50 were each found at a moderately increased frequency among individuals responding to HIV-1 infection with a marked circulating and infiltrative CD8 T-cell lymphocytosis, a slow rate of CD4 T-cell decline, very low frequency of opportunistic infections, and low viral strain heterogeneity. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
167,
3
]
} | {
"id": "C0029118",
"name": "Opportunistic Infections",
"pos": [
250,
24
]
} |
Classification of deep penetrating nevi as blue nevic variants has also been proposed, however, no GNAQ or GNA11 mutations have been reported and none have been tested for HRAS mutations. | NA | {
"id": 2767,
"name": "GNA11",
"pos": [
107,
5
]
} | {
"id": "C0027960",
"name": "Nevus",
"pos": [
35,
4
]
} |
The exon 13-deleted Recql4-deficient mice are viable, but exhibit severe growth retardation and abnormalities in several tissues, and embryonic fibroblasts show a defect in cell proliferation. | NA | {
"id": 9401,
"name": "RECQL4",
"pos": [
20,
6
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
73,
18
]
} |
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