text
stringlengths 27
1.82k
| relation
stringclasses 4
values | h
dict | t
dict |
|---|---|---|---|
Deficiency in mammalian histone H2B ubiquitin ligase Bre1 (Rnf20/Rnf40) leads to replication stress and chromosomal instability. | NA | {
"id": 9810,
"name": "RNF40",
"pos": [
65,
5
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
104,
23
]
} |
We demonstrated that SEAtm by adenovirus from the AFP enhancer/promoter (AdAFPSEA) could be expressed on the surface of AFP-producing cell line Hepa1-6 instead of non-AFP-producing cell lines. | NA | {
"id": 174,
"name": "AFP",
"pos": [
167,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
30,
10
]
} |
Using the Cox regression test the risk of recurrence was 3.0, 3.3, 2.7 and 3.4 for high levels of miR-100, miR-145, miR-191 and miR-let7c, respectively. | NA | {
"id": 406937,
"name": "MIR145",
"pos": [
107,
7
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
14,
10
]
} |
Therefore, the IL-6 gene appears to play a minimal role in the genetic etiology of essential hypertension in Japanese women. | genomic_alterations | {
"id": 3569,
"name": "IL6",
"pos": [
15,
4
]
} | {
"id": "C0085580",
"name": "Essential Hypertension",
"pos": [
83,
22
]
} |
In HSP72 knockout mice, impaired Parkin action was associated with retention of enlarged, dysmorphic mitochondria and paralleled by reduced muscle respiratory capacity, lipid accumulation, and muscle insulin resistance. | NA | {
"id": 3303,
"name": "HSPA1A",
"pos": [
3,
5
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
200,
18
]
} |
AIM: In this study we evaluated the role of AR gene CAG repeat polymorphism in the recovery of sexual function after testosterone replacement therapy (TRT) in men affected by postsurgical hypogonadotropic hypogonadism, a condition which is often associated with hypopituitarism and in which the sexual benefits of TRT must be distinguished from those of pituitary-function replacement therapies. | NA | {
"id": 922,
"name": "CD5L",
"pos": [
0,
3
]
} | {
"id": "C0020635",
"name": "Hypopituitarism",
"pos": [
262,
15
]
} |
Similarly, auditory and to a lesser extent visual P300 amplitude were decreased in schizophrenia and bipolar disorder. | NA | {
"id": 2033,
"name": "EP300",
"pos": [
50,
4
]
} | {
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
101,
16
]
} |
Ectopic expression of C/EBPalpha and ID1 is sufficient to restore defective neutrophil development in low-risk myelodysplasia. | NA | {
"id": 3397,
"name": "ID1",
"pos": [
37,
3
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
111,
14
]
} |
Notably, miR1307 maps to a locus previously associated with SCZ through GWAS. | genomic_alterations | {
"id": 100302174,
"name": "MIR1307",
"pos": [
9,
7
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
60,
3
]
} |
The gene expression pattern in normal and prostate cancer tissues was analyzed by serial analysis of gene expression (SAGE). | NA | {
"id": 55511,
"name": "SAGE1",
"pos": [
118,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
42,
15
]
} |
Their expression correlated with the severity of pancreatic neuritis, fibrosis, intrapancreatic nerve fiber density and hypertrophy, pain, CP duration and with the amount of inflammatory cell infiltrate immuno-positive for CD45 and CD68. | NA | {
"id": 968,
"name": "CD68",
"pos": [
232,
4
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
70,
8
]
} |
The somatic mutation rates in different tissues were also not correlated to the relative inter-tissue difference in transcriptional levels of the three genes (DMAHP , DMPK and 59) surrounding the repeat. | NA | {
"id": 147912,
"name": "SIX5",
"pos": [
159,
5
]
} | {
"id": "C0544886",
"name": "Somatic mutation",
"pos": [
4,
16
]
} |
The CGH profile of a case with der (2)t(2;6)(q37.3;q22.2) revealed partial trisomy for chromosome 6 between q21 and q27. | genomic_alterations | {
"id": 51009,
"name": "DERL2",
"pos": [
31,
6
]
} | {
"id": "C1297882",
"name": "Partial Trisomy",
"pos": [
67,
15
]
} |
Expression of p16, cyclins A, D and E, p21, p53, retinoblastoma (Rb) gene product and telomerase-associated protein 1 (TP1) in SK was examined by immunohistochemistry. | NA | {
"id": 7011,
"name": "TEP1",
"pos": [
119,
3
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
49,
14
]
} |
Epigallocatechin-3-gallate induces mesothelioma cell death via H2 O2 -dependent T-type Ca2+ channel opening. | NA | {
"id": 760,
"name": "CA2",
"pos": [
87,
3
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
35,
12
]
} |
Here, we report on a novel LBR missense variant [c.1379A>G; p.(D460R)], identified by whole exome sequencing and causing Greenberg dysplasia in two fetuses from a consanguineous Moroccan family. | genomic_alterations | {
"id": 3930,
"name": "LBR",
"pos": [
27,
3
]
} | {
"id": "C2931048",
"name": "HEM dysplasia",
"pos": [
124,
19
]
} |
Therefore, we investigated the role of TRIF and MyD88 in K. pneumoniae pneumonia. | biomarker | {
"id": 4615,
"name": "MYD88",
"pos": [
48,
5
]
} | {
"id": "C0032285",
"name": "Pneumonia",
"pos": [
71,
9
]
} |
When overexpressed, Pur-alpha mitigates toxicities associated with Fragile X tumor ataxia syndrome (FXTAS) and C9orf72 repeat expansion diseases in Drosophila and mammalian cell culture models. | NA | {
"id": 5813,
"name": "PURA",
"pos": [
20,
9
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
77,
5
]
} |
ADP-stimulated platelets bound markedly reduced amounts of soluble fibrinogen and platelet adhesion to surface-bound fibrinogen was defective. | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
0,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
117,
10
]
} |
Progression to a clinically aggressive meningioma is linked to inactivation of CDKN2A/B genes, and a plethora of signaling molecules have been described as activated in meningiomas, which supports the concept of successful clinical use of specific inhibitors. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
79,
6
]
} | {
"id": "C0232370",
"name": "Florid red complexion (finding)",
"pos": [
101,
8
]
} |
The percent PCNA positive tumor cells (12.5% mean, range 1-28%) was significantly greater in aneuploid tumors (14.2% mean, N = 35) compared to diploid range tumors (10.7% mean, N = 35) (p less than 0.05), and was correlated with SPF derived from ungated DNA histograms (12.5% mean +/- 5.5%, r = 0.45, p less than 0.001). | NA | {
"id": 5111,
"name": "PCNA",
"pos": [
12,
4
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
93,
9
]
} |
Our data show the importance of epigenetic alterations of ROR2 in colon cancer, highlighting the close interconnection between canonical and non-canonical Wnt signalling pathways in this type of tumour. | NA | {
"id": 4920,
"name": "ROR2",
"pos": [
58,
4
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
66,
12
]
} |
Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. | NA | {
"id": 5241,
"name": "PGR",
"pos": [
57,
21
]
} | {
"id": "C0025322",
"name": "Premature Menopause",
"pos": [
112,
25
]
} |
Translocation t(11;19)(q21;p13) involving the MECT1 and MAML2 genes has been suggested as a diagnostic marker in these tumors. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
27,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
119,
6
]
} |
Kidney and testicular tumors expressed the highest levels of cathepsin L; non-small cell carcinomas of the lung expressed the next highest levels; and most cancers of the breast, ovary, colon, adrenal, bladder, prostate, and thyroid expressed elevated levels as well. | NA | {
"id": 1514,
"name": "CTSL",
"pos": [
61,
11
]
} | {
"id": "C0039590",
"name": "Testicular Neoplasms",
"pos": [
11,
17
]
} |
Significantly positive autoantibody reactivity against TPIT was found in 9/86 hypophysitis patients vs 1/90 controls (P = 0.018). | NA | {
"id": 9095,
"name": "TBX19",
"pos": [
55,
4
]
} | {
"id": "C0342409",
"name": "Hypophysitis",
"pos": [
78,
12
]
} |
The aim of this study was to examine whether the corresponding gene, DRD3, is associated with the development of heroin dependence and specific personality traits in HD patients. | NA | {
"id": 1814,
"name": "DRD3",
"pos": [
69,
4
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
144,
18
]
} |
One tumor with t(10;17)(q22;p13) involving fusion of YHWAE with NUTM2B was identified. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
28,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
4,
5
]
} |
Deletion polymorphisms in GSTT1 and GSTM1 are reportedly associated, albeit controversial, with an increased risk in cancer as well as with altered responses to chemotherapeutic drugs. | genomic_alterations | {
"id": 2952,
"name": "GSTT1",
"pos": [
26,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
117,
6
]
} |
Three Pakistani families had homozygosity for three MYO6 mutations (c.36insT, p.R1166X, and p.E216V, respectively), and was in one instance associated with retinal degeneration. | NA | {
"id": 4646,
"name": "MYO6",
"pos": [
52,
4
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
156,
20
]
} |
Depletion of CD8, but not CD4 T cells reduced anti-tumor immunity, indicating CTL as the effector cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
26,
3
]
} | {
"id": "C1519680",
"name": "Tumor Immunity",
"pos": [
51,
14
]
} |
Biochemical markers of bone formation and bone resorption, N-terminal propeptide of type I procollagen and type I collagen cross-linked C-terminal telopeptide, are significantly increased in Ank(KI/KI) mice, suggesting increased bone turnover. | NA | {
"id": 1278,
"name": "COL1A2",
"pos": [
84,
18
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
42,
15
]
} |
In the 2 subjects with trisomy of 9p, high levels of IFNalpha/beta (comparable with those found in patients with SLE), increased signaling through the IFN receptor (as indicated by high Mx1 expression), and low levels of circulating plasmacytoid dendritic cells (as observed in patients with SLE) were evident. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
151,
3
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
23,
7
]
} |
The knockdown of NOX3 by pretreatment with siRNA prevented cisplatin ototoxicity, as demonstrated by preservation of hearing thresholds and inner ear sensory cells. | NA | {
"id": 50508,
"name": "NOX3",
"pos": [
17,
4
]
} | {
"id": "C0235280",
"name": "Ototoxicity",
"pos": [
69,
11
]
} |
MLL normally associates with a cohort of highly conserved cofactors to form a macromolecular complex that includes menin, a product of the MEN1 tumor suppressor gene, which is mutated in heritable and sporadic endocrine tumors. | NA | {
"id": 4297,
"name": "KMT2A",
"pos": [
0,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
201,
8
]
} |
Here we report the establishment of tumor-specific CD4(+) Treg cell clones from tumor-infiltrating lymphocytes (TILs) of cancer patients, and the identification of an Ag recognized by Treg cells (ARTC1) gene encoding a peptide ligand recognized by tumor-specific TIL164 CD4(+) Treg cells. | NA | {
"id": 920,
"name": "CD4",
"pos": [
270,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
121,
6
]
} |
Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. | genomic_alterations | {
"id": 6927,
"name": "HNF1A",
"pos": [
27,
5
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
64,
4
]
} |
Methylation of the SPARC gene transcriptional regulation region (TRR) was detected using bisulfite-specific (BSP) PCR-based sequencing analysis in 40 cases of pancreatic cancer and the adjacent normal tissues, 6 chronic pancreatitis tissues, and 6 normal pancreatic tissues. | NA | {
"id": 3381,
"name": "IBSP",
"pos": [
109,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
159,
17
]
} |
We reported for the first time a case of 13-year-old boy with NS with loose anagen hair (NSLAH) resulting from mutation in SHOC2 who developed an autoimmune disorder that fulfilled four American College of Rheumatology (ACR) criteria for the classification of SLE (polyarthritis, pericarditis, antinuclear antibodies, and anti-DNA antibodies). | NA | {
"id": 49,
"name": "ACR",
"pos": [
220,
3
]
} | {
"id": "C0162323",
"name": "Polyarthritis",
"pos": [
265,
13
]
} |
In the present study, we confirmed the association of rs1800469 in TGF-beta1 and rs20541 in IL-13 with asthma and found a trend toward association between rs2241712 in TGF-beta1 and rs2070874 in IL-4 with asthma among atopic subjects, suggesting TGF-beta1, IL-4 and IL-13 may be associated with the susceptibility and development of asthma in this Chinese population. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
257,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
218,
6
]
} |
Hippocampal sst(1) receptors are autoreceptors and do not affect seizures in rats. | therapeutic | {
"id": 6750,
"name": "SST",
"pos": [
12,
3
]
} | {
"id": "C0751056",
"name": "Non-epileptic convulsion",
"pos": [
65,
8
]
} |
TLR4/NF-κB signaling pathway gene single nucleotide polymorphisms alter gene expression levels and affect ARDS occurrence and prognosis outcomes. | genomic_alterations | {
"id": 7099,
"name": "TLR4",
"pos": [
0,
4
]
} | {
"id": "C0035222",
"name": "Respiratory Distress Syndrome, Adult",
"pos": [
106,
4
]
} |
Among the top results, rs10845990 within SLC2A14, encoding a glucose transporter, showed evidence of replication for association with AD pathology, and gain and loss of function in glut1, the Drosophila ortholog, was associated with suppression and enhancement of Tau toxicity, respectively. | genomic_alterations | {
"id": 6513,
"name": "SLC2A1",
"pos": [
181,
5
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
134,
2
]
} |
The acceleration of the healing and accompanying hyperemia induced by EGF at 12 h after WRS were completely reversed in rats pretreated with L-NAME or in those with capsaicin denervation. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
70,
3
]
} | {
"id": "C0020452",
"name": "Hyperemia",
"pos": [
49,
9
]
} |
Our prior study showed that human apolipoprotein L6 (ApoL6), a pro-apoptotic BH3-only member of the Bcl-2 family, was one of the downstream targets of interferon-γ (INFγ), which sensitizes atherosclerotic lesion-derived cells (LDCs) to Fas-induced apoptosis. | NA | {
"id": 80830,
"name": "APOL6",
"pos": [
53,
5
]
} | {
"id": "C4703473",
"name": "Atherosclerotic lesion",
"pos": [
189,
22
]
} |
Reversion was particularly evident for 7 genes: SOCS2, TNFAIP3, NR4A2, CXCR4, POLR2J, FAM49B, and STAG3L1, most of which encode negative regulators of inflammation. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
71,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
151,
12
]
} |
In murine whole blood and in zymosan-induced peritonitis, JNJ-26993135 selectively inhibited LTB(4) production, without affecting cysteinyl leukotriene production, while maintaining or increasing production of the anti-inflammatory mediator, lipoxin (LX) A(4). | NA | {
"id": 4050,
"name": "LTB",
"pos": [
93,
3
]
} | {
"id": "C0031154",
"name": "Peritonitis",
"pos": [
45,
11
]
} |
Our data demonstrated the increased risk association between maternal smoking and EAL with MLL-r. Additionally, suggests that children second-hand tobacco exposures are associated with increased risk of EAL with RASmut modulated by NQO1 rs1800566 (C609T). | NA | {
"id": 1728,
"name": "NQO1",
"pos": [
232,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
70,
7
]
} |
These studies indicate that the (GGGGC)n short tandem repeats are inherited, and that the (GGGGC)2 allele in the AHR proximal promoter region should be further investigated with regard to its potential association with lung cancer susceptibility. | genomic_alterations | {
"id": 196,
"name": "AHR",
"pos": [
113,
3
]
} | {
"id": "C1306460",
"name": "Primary malignant neoplasm of lung",
"pos": [
219,
11
]
} |
Polymorphisms of the glutathione S-transferase P1 gene and head and neck cancer susceptibility. | genomic_alterations | {
"id": 27306,
"name": "HPGDS",
"pos": [
21,
25
]
} | {
"id": "C3887461",
"name": "Head and Neck Carcinoma",
"pos": [
59,
20
]
} |
Collectively, these data provide insight into the mechanisms by which miR-33 regulates cellular cholesterol homeostasis and atherosclerosis. | biomarker | {
"id": 407039,
"name": "MIR33A",
"pos": [
70,
6
]
} | {
"id": "C0003850",
"name": "Arteriosclerosis",
"pos": [
124,
15
]
} |
Recent studies specified loss of imprinting (LOI) in a differential methylated region (DMR) of the IGF2/H19 cluster or loss of heterozygosity (LOH), respectively, uniparental disomy (UPD) being responsible for this overexpression. | NA | {
"id": 283120,
"name": "H19",
"pos": [
105,
3
]
} | {
"id": "C0949628",
"name": "Uniparental Disomy",
"pos": [
164,
18
]
} |
Thus, we have developed a novel set of interphase fluorescence in situ hybridization (I-FISH) assays targeting those regions frequently lost on chromosome 13 as well as those oncogenes most recurrently involved in translocations with the IGH locus in multiple myeloma, i.e. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
88,
4
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
251,
16
]
} |
Structural abnormalities of the RB-1 gene were reported in 18% of ALL-patients and in 27% of Philadelphia chromosome-positive ALL, respectively. | genomic_alterations | {
"id": 5925,
"name": "RB1",
"pos": [
32,
4
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
126,
3
]
} |
The aim of this study was to clarify the effects of nitric oxide (NO) on radiation-induced cell killing and chromosome aberrations in two human lung cancer cell lines with a different p53 gene status. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
184,
8
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
108,
22
]
} |
Application of FISH to complex chromosomal rearrangements associated with chronic myelogenous leukemia. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
15,
4
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
74,
28
]
} |
S100A8 and S100A9 activate MAP kinase and NF-kappaB signaling pathways and trigger translocation of RAGE in human prostate cancer cells. | NA | {
"id": 177,
"name": "AGER",
"pos": [
100,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
83,
13
]
} |
Other "A-T variants" include: (1) Nijmegen breakage syndrome (NBS) or nibrin/Nbs1 deficiency, with microcephaly and mental retardation but without ataxia, apraxia, or telangiectasia, and 2) A-T(Fresno), a phenotype that combines features of both NBS and A-T, with mutations in the ATM gene. | NA | {
"id": 472,
"name": "ATM",
"pos": [
281,
8
]
} | {
"id": "C0003635",
"name": "Apraxias",
"pos": [
155,
7
]
} |
We had previously demonstrated a donor splice site mutation of the PTH gene in one of these families, and PTH gene abnormalities were therefore sought in the second of these families. | NA | {
"id": 5741,
"name": "PTH",
"pos": [
106,
8
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
115,
13
]
} |
Thus, treatment with CAR-T cells followed by allo-HSCT may be the best way to treat relapsed/refractory ALL. | biomarker | {
"id": 10206,
"name": "TRIM13",
"pos": [
21,
3
]
} | {
"id": "C4288302",
"name": "Refractory Adult Acute Lymphoblastic Leukemia",
"pos": [
104,
3
]
} |
MRI was done to identify the middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. | NA | {
"id": 822,
"name": "CAPG",
"pos": [
57,
3
]
} | {
"id": "C0235946",
"name": "Cerebral atrophy",
"pos": [
96,
16
]
} |
In her sister, MRI revealed a Chiari-I malformation. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
15,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
39,
12
]
} |
However, they were negative for pancytokeratins, high molecular weight CK, CK5/6, CK7, CK 14, CK 19, CK20, vimentin, neuron-specific enolase, chromogranin, CD15, CD45, S100 protein, CEA, CA19-9, glial fibrillary acidic protein, neurofilaments, neuroblastoma, CD99, surfactant apoprotein A, melanosome, and TTF-1. | NA | {
"id": 3855,
"name": "KRT7",
"pos": [
82,
3
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
244,
13
]
} |
Single-strand conformation polymorphism (SSCP) analysis and subsequent DNA sequence analysis have identified a KCNQ1 mutation in a family that were clinically conspicuous due to several syncopes and prolonged QTc intervals in the ECG. | genomic_alterations | {
"id": 3784,
"name": "KCNQ1",
"pos": [
111,
5
]
} | {
"id": "C0039070",
"name": "Syncope",
"pos": [
186,
8
]
} |
The TRK-T1 fusion protein induces neoplastic transformation of thyroid epithelium. | NA | {
"id": 4914,
"name": "NTRK1",
"pos": [
4,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
34,
25
]
} |
OSM stimulation promotes spontaneous lung metastasis of MCF-7 xenografts in nude mice. | biomarker | {
"id": 5008,
"name": "OSM",
"pos": [
0,
3
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
37,
15
]
} |
De novo appearance of der(1;7)(q10;p10) is associated with leukemic transformation and unfavorable prognosis in essential thrombocythemia. | NA | {
"id": 51010,
"name": "EXOSC3",
"pos": [
35,
3
]
} | {
"id": "C0040028",
"name": "Thrombocythemia, Essential",
"pos": [
112,
25
]
} |
Karyotyping and fluorescence in situ hybridization analysis of the female fetus revealed an unbalanced subtelomeric translocation(karyotype 46,XX,der(18)t(7;18)(p22.3;p11.32)mat resulting in a partial trisomy 7p and a partial monosomy 18p.Array comparative genomic hybridization (CGH) detected a4.44-Mb heterozygous duplication at 7p22.3 to 7p22.1 and a0.178-Mb heterozygous deletion at 18p11.32. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
161,
3
]
} | {
"id": "C0795820",
"name": "Chromosome 7, trisomy 7p",
"pos": [
201,
10
]
} |
After treatment, the percentages of surface atheromatous plaques to total aortic arch area were 45.0+/-12.6% in the GM-CSF group and 74.3+/-11.0% in controls (P<0.0001). | NA | {
"id": 1437,
"name": "CSF2",
"pos": [
116,
6
]
} | {
"id": "C0264956",
"name": "Atheroma",
"pos": [
44,
20
]
} |
The interleukin 4 receptor (IL4R) single nucleotide polymorphism (SNP), rs 180275 (1902A>G) is well recognized for its association with atopy and other inflammatory diseases. | NA | {
"id": 3566,
"name": "IL4R",
"pos": [
28,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
136,
5
]
} |
In this study, we attempted to explore whether expressions of Ago2 and TNRC6A are altered in prostate carcinomas (PCA) and esophageal squamous cell carcinomas (ESCC). | NA | {
"id": 27327,
"name": "TNRC6A",
"pos": [
71,
6
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
102,
10
]
} |
The missense mutation and the deletion mutation of CryAB can cause various forms of muscular disorder, including restrictive, hypertrophic, and dilated cardiomyopathies, heart failure, and skeletal muscle weakness. | genomic_alterations | {
"id": 1410,
"name": "CRYAB",
"pos": [
51,
5
]
} | {
"id": "C0030552",
"name": "Paresis",
"pos": [
198,
15
]
} |
We conclude that absence of CNTF does not increase susceptibility for these disorders and confirm that it does not affect onset and course of familial and sporadic ALS. | NA | {
"id": 1270,
"name": "CNTF",
"pos": [
28,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
155,
8
]
} |
Plasminogen activator Inhibitor 1 (PAI-1) inhibits plasminogen activators leading to decreased fibrinolysis and increased risk of thromboembolic disease (TED). | NA | {
"id": 5054,
"name": "SERPINE1",
"pos": [
0,
33
]
} | {
"id": "C0040038",
"name": "Thromboembolism",
"pos": [
130,
22
]
} |
ADP and its oligomers (high-molecular-weight [HMW], middle-molecular-weight [MMW], and low-molecular-weight [LMW] ADP) have been shown to modulate several inflammatory pathways that have also been shown to be associated with migraine pathophysiology. | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
114,
3
]
} | {
"id": "C0149931",
"name": "Migraine Disorders",
"pos": [
225,
8
]
} |
Role of molecular markers to predict distant metastasis in papillary thyroid carcinoma: Promising value of TERT promoter mutations and insignificant role of BRAF mutations-a meta-analysis. | genomic_alterations | {
"id": 110806263,
"name": "LOC110806263",
"pos": [
107,
13
]
} | {
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
59,
27
]
} |
βc and CCR3 could play important roles in the modulation of the allergic response, and their inhibition may represent a promising therapeutic approach for AR. | NA | {
"id": 1232,
"name": "CCR3",
"pos": [
7,
4
]
} | {
"id": "C1527304",
"name": "Allergic Reaction",
"pos": [
64,
17
]
} |
Further analysis of all reported TPP1 mutations revealed that the LINCL group had a significantly higher frequency of truncating and invariant splice-site mutations than the JNCL group. | genomic_alterations | {
"id": 1200,
"name": "TPP1",
"pos": [
33,
4
]
} | {
"id": "C0751383",
"name": "Juvenile Neuronal Ceroid Lipofuscinosis",
"pos": [
174,
4
]
} |
Importantly, male cell lines were resistant to serum starvation and exhibited higher levels of TUBB6, thereby suggesting that the pathway is activated by androgens. | NA | {
"id": 84617,
"name": "TUBB6",
"pos": [
95,
5
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
53,
10
]
} |
We additionally implanted 13 tumors to investigate the relationship between PI3K/AKT/mTOR pathway alterations and oligodendroglioma xenograft formation. | biomarker | {
"id": 5291,
"name": "PIK3CB",
"pos": [
76,
4
]
} | {
"id": "C0280475",
"name": "Childhood Oligodendroglioma",
"pos": [
114,
17
]
} |
However, no studies have linked the association between IL6 gene polymorphism and bone mass in AIS. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
56,
8
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
82,
9
]
} |
LRIG1 modulates aggressiveness of head and neck cancers by regulating EGFR-MAPK-SPHK1 signaling and extracellular matrix remodeling. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
70,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
16,
14
]
} |
These results suggest that frataxin gene silencing in human neuron-like cells may constitute a useful cell model to characterize the molecular changes triggered by frataxin deficiency in neurons, as well as to search for therapies that may protect against neurodegeneration. | NA | {
"id": 2395,
"name": "FXN",
"pos": [
164,
8
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
256,
17
]
} |
ZnT8-specific CD8+ T cells in human type 1 diabetes (T1D) have been reported recently, although the results from different laboratories are inconsistent. | NA | {
"id": 925,
"name": "CD8A",
"pos": [
14,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
36,
15
]
} |
A polymorphism in the promotor for CD14, -159 C-->T, has been implicated in atopy. | NA | {
"id": 929,
"name": "CD14",
"pos": [
35,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
76,
5
]
} |
In conclusion, the -2518A/G polymorphism in the MCP-1 gene was found to be associated with an increased susceptibility to PTB in a North Chinese population. | genomic_alterations | {
"id": 6347,
"name": "CCL2",
"pos": [
48,
5
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
122,
3
]
} |
The analysis was restricted to studies that examined the effect of exercise interventions on adipokines (adiponectin, leptin, resistin and visfatin) in pediatric obesity (6-18 years old). | biomarker | {
"id": 56729,
"name": "RETN",
"pos": [
126,
8
]
} | {
"id": "C2362324",
"name": "Pediatric Obesity",
"pos": [
152,
17
]
} |
ER stress is a mechanism by which IAPP induces beta-cell apoptosis and is characteristic of beta-cells in humans with type 2 diabetes but not type 1 diabetes. | biomarker | {
"id": 3375,
"name": "IAPP",
"pos": [
34,
4
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
142,
15
]
} |
Furthermore, we show that targets of unphosphorylated STAT1, such as antigen presenting genes and CASP1, are also repressed by hypoxia possibly through the same STRA13-mediated mechanism. | NA | {
"id": 834,
"name": "CASP1",
"pos": [
98,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
127,
7
]
} |
Tumor Mutation Burden and Efficacy of EGFR-Tyrosine Kinase Inhibitors in Patients with <i>EGFR</i>-Mutant Lung Cancers. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
38,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
0,
5
]
} |
A multitude of molecular pathways well-described in carcinogenesis are regulated in part by TFE3 or TFEB proteins, including activation of TGFβ and ETS transcription factors, E-cadherin expression, CD40L-dependent lymphocyte activation, mTORC1 signalling, insulin-dependent metabolism regulation, folliculin signalling, and retinoblastoma-dependent cell cycle arrest. | NA | {
"id": 959,
"name": "CD40LG",
"pos": [
198,
5
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
324,
14
]
} |
Our purpose was to investigate p16 alterations (9p21 allelic loss, hypermethylation and point mutations) and their possible association with clinico-pathological data and flow cytometric variables (DNA-ploidy and S-phase fraction (SPF)), and to determine the possible prognostic role of this gene in these tumors. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
31,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
306,
6
]
} |
Since the process of metastasis is dependent on adhesion properties of cells, the goal of our work was to describe the adhesion properties of CAL 27 cells (oral squamous cell carcinoma of the tongue) overexpressing FLAG/nm23-H1. | biomarker | {
"id": 57120,
"name": "GOPC",
"pos": [
142,
3
]
} | {
"id": "C0349566",
"name": "Squamous cell carcinoma of tongue",
"pos": [
161,
37
]
} |
Our findings demonstrate that the ability of IGF-1 to prevent ANG II-induced skeletal muscle wasting is mediated via an Akt- and Foxo-1-dependent signaling pathway that results in inhibition of atrogin-1 but not MuRF-1 expression. | NA | {
"id": 283,
"name": "ANG",
"pos": [
62,
3
]
} | {
"id": "C0026846",
"name": "Muscular Atrophy",
"pos": [
86,
14
]
} |
The direct growth inhibitory effects of BIBF 1120 on four HCC cell lines were relatively mild in vitro (IC(50) values: 2-5 μmol/L); however, the oral administration of BIBF 1120 (50 or 100 mg/kg/d) significantly inhibited the tumor growth and angiogenesis in a HepG2 xenograft model. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
58,
3
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
89,
4
]
} |
When PTP1B gene was deleted selectively in the brain of mice, the major effects on weight and glucose control were consistent with the whole body deletion of PTP1B. | NA | {
"id": 5770,
"name": "PTPN1",
"pos": [
158,
5
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
83,
6
]
} |
Tumor-suppressive effects by adenovirus-mediated mda-7 gene transfer in non-small cell lung cancer cell in vitro. | NA | {
"id": 11009,
"name": "IL24",
"pos": [
49,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
29,
10
]
} |
Our findings indicate that the spinal mGluR5-TRPV1 pathway modulates nociceptive transmission in uterine cervical distension-induced pathological visceral pain. | biomarker | {
"id": 2915,
"name": "GRM5",
"pos": [
38,
6
]
} | {
"id": "C0234245",
"name": "Visceral Pain",
"pos": [
146,
13
]
} |
Smad4/Smad7 balance: a role of tumorigenesis in gastric cancer. | NA | {
"id": 4089,
"name": "SMAD4",
"pos": [
0,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
31,
13
]
} |
Comparing the finding of clustered giant abnormal megakaryocytes in a representative bone marrow as a diagnostic clue to MPD, the sensitivity for the diagnosis of MPD associated with splanchnic vein thrombosis was 63% for increased red cell mass, 52% for low serum EPO level, 72% for EEC, and 74% for splenomegaly indicating the superiority of bone marrow histopathology to detect masked early and overt MPD in this setting. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
265,
3
]
} | {
"id": "C4022560",
"name": "Splanchnic vein thrombosis",
"pos": [
183,
26
]
} |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.