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Several transcription factors are involved in asthmatic inflammation, including nuclear factor-kappaB (NF-kappaB), activator protein-1 (AP-1), nuclear factor of activated T-cells (NF-AT), cyclic AMP response element binding protein (CREB) and signal transduction-activated transcription factors (STAT). | NA | {
"id": 1385,
"name": "CREB1",
"pos": [
233,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
56,
12
]
} |
When AHSG was combined with ECM1, the AUCs were 0.795 and 0.739 in NSCLC and early stage patients, respectively. | biomarker | {
"id": 1893,
"name": "ECM1",
"pos": [
28,
4
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
67,
5
]
} |
Furthermore, tumor-associated fibroblasts were identified as a major source of EREG in colitis-associated neoplasms. | NA | {
"id": 2069,
"name": "EREG",
"pos": [
79,
4
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
87,
7
]
} |
Primary fibroblasts from patients showed normal nucleotide excision repair but UV-hypersensitivity in the presence of caffeine, a signature of the XP-V syndrome. | NA | {
"id": 5429,
"name": "POLH",
"pos": [
147,
4
]
} | {
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
118,
8
]
} |
In addition, the possible mechanisms are discussed leading to BRCA1 pathway dysfunction in sporadic triple-negative and basal-like cancers and animal models for these tumour types. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
62,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
91,
8
]
} |
Risk assessment and early detection strategies in individuals with BRCA1/2 mutations and with Lynch syndrome have been quite extensively studied, whereas much less is known about the management of mutation carriers with less common high-penetrance cancer susceptibility genes (PTEN, TP53, STK11, CDH1), and particularly those who carry mutations in moderate-penetrance genes (e.g., PALB2, CHEK2, ATM, NF1, RAD51C, RAD51D, BRIP1). | genomic_alterations | {
"id": 999,
"name": "CDH1",
"pos": [
296,
4
]
} | {
"id": "C1333990",
"name": "Hereditary Nonpolyposis Colorectal Cancer",
"pos": [
94,
14
]
} |
In contrast, almost all proteins more abundant in insulinoma cells, such as MAGE2, were first described here and could be related to cell survival and resistance to chemotherapy. | NA | {
"id": 4101,
"name": "MAGEA2",
"pos": [
76,
5
]
} | {
"id": "C0021670",
"name": "insulinoma",
"pos": [
50,
10
]
} |
Regarding primiparity, prepregnancy body mass index < 24, and MT+TT genotypes of AGT, no significant differences in the frequency of the DD genotype of ACE were found between patients with preeclampsia and controls, although in a subgroup positive for family history of hypertension, the frequency of the DD genotype tended to be higher in patients with preeclampsia (25%) than in controls (8%; p = 0.061). | NA | {
"id": 183,
"name": "AGT",
"pos": [
81,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
36,
15
]
} |
AIM: For tumors of the periampullary region clinical differentiation between primary and tumor-associated pancreatitis might be difficult. | NA | {
"id": 922,
"name": "CD5L",
"pos": [
0,
3
]
} | {
"id": "C0030305",
"name": "Pancreatitis",
"pos": [
106,
12
]
} |
As a part of the HPV-Pathogen Istituto Superiore di Sanità study, a series of 150 squamous cell carcinomas (SCCs) and 152 cervical intraepithelial neoplasia (CIN) lesions were examined by immunohistochemical staining for nm23-H1, and tested for HPV by polymerase chain reaction (PCR) with three sets of primers (MY09/11, GP5(+)/GP6(+) and short PCR fragment). | NA | {
"id": 51206,
"name": "GP6",
"pos": [
328,
3
]
} | {
"id": "C0206708",
"name": "Cervical Intraepithelial Neoplasia",
"pos": [
122,
34
]
} |
Severe, early-onset insulin resistance in the absence of obesity, hepatic steatosis and dyslipidaemia is frequently attributable to a genetic defect affecting the insulin receptor. | genomic_alterations | {
"id": 3643,
"name": "INSR",
"pos": [
163,
16
]
} | {
"id": "C0242339",
"name": "Dyslipidemias",
"pos": [
88,
13
]
} |
Pirh2, a member of the RING finger family, can target p53 for degradation and thereby repress a diverse group of biological activities and involved in many signalling pathways related to the genesis and evolution of cancer. | NA | {
"id": 25898,
"name": "RCHY1",
"pos": [
0,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
216,
6
]
} |
Promoter 1 was hypermethylated in NET but not in paired non-neoplastic lung tissues nor in 20 control NSCLC, with the degree of hypermethylation paralleling tumor grade. | NA | {
"id": 2004,
"name": "ELK3",
"pos": [
34,
3
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
56,
14
]
} |
Fasting plasma insulin, plasminogen activator inhibitor-1 (PAI-1) activity, plasma triglyceride concentrations, and systolic (SBP) and diastolic (DBP) blood pressure were not significantly different between the three ACE genotypes among nondiabetic and diabetic subjects. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
217,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
151,
14
]
} |
MYD88(L265P) and CXCR4(WHIM) mutations are highly prevalent in Waldenström's macroglobulinemia. | genomic_alterations | {
"id": 7852,
"name": "CXCR4",
"pos": [
17,
5
]
} | {
"id": "C0024419",
"name": "Waldenstrom Macroglobulinemia",
"pos": [
63,
31
]
} |
We found that systemic inhibition of IGF-I signaling with a receptor-neutralizing antibody, or with inhibitors of PI-3 kinase (PI-3K), c-Jun kinase (JNK), or Akt, suppressed retinal Akt, JNK, HIF-1alpha, nuclear factor (NF)-kappaB, and AP-1 activity, vascular endothelial growth factor (VEGF) expression, as well as intercellular adhesion molecule-1 levels, leukostasis, and blood-retinal barrier breakdown, in a relevant animal model. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
192,
10
]
} | {
"id": "C0282548",
"name": "Leukostasis",
"pos": [
358,
11
]
} |
Mutations in the evolutionarily conserved codons of the p53 tumor suppressor gene are common in diverse types of human cancer. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
56,
20
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
119,
6
]
} |
ABL kinases protected tumor cells from apoptosis induced by TRAIL (TNF-related apoptosis-inducing ligand), activated the transcription factor STAT5, and promoted osteolysis through the STAT5-dependent expression of genes encoding the osteoclast-activating factors interleukin-6 (IL-6) and matrix metalloproteinase 1 (MMP1). | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
67,
37
]
} | {
"id": "C4721411",
"name": "Osteolysis",
"pos": [
162,
10
]
} |
To investigate the role of substance P (sP), nitric oxide (ON) and prostaglandins (PGs) in acrolein (ACR)-induced cystitis, we studied the changes induced by ACR on bladder inducible nitric oxide synthase (iNOS) and mieloperoxidase (MPO) activities, along with PGs and NO metabolites levels. | NA | {
"id": 49,
"name": "ACR",
"pos": [
158,
3
]
} | {
"id": "C0010692",
"name": "Cystitis",
"pos": [
114,
8
]
} |
The association of single nucleotide polymorphisms in the catechol-O-methyltransferase gene and pain scores in female patients with major depressive disorder. | genomic_alterations | {
"id": 1312,
"name": "COMT",
"pos": [
58,
28
]
} | {
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
132,
25
]
} |
The screening of seven MPNSTs for subtle mutations in the CDKN2A and TP53 genes proved negative, although the screening of 11 MPNSTs detected LOH involving either the TP53 or the CDKN2A gene in a total of four tumors. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
179,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
210,
6
]
} |
The identification of the LRRK2 Gly2385Arg variant could potentially facilitate the development of clinical, bioimaging, genetic and biological biomarkers, useful in the monitoring and neuroprotective therapy in asymptomatic individuals. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
26,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
212,
12
]
} |
We assessed the CpG island methylator phenotype (CIMP) using eight methylation markers [CACNA1G, CDKN2A (p16), CRABP1, IGF2, MLH1, NEUROG1, RUNX3, and SOCS1], and LINE-1 (L1) hypomethylation, TP53 (p53), and microsatellite instability (MSI). | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
105,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
208,
26
]
} |
To examine the effect of the BDNF Val66Met polymorphism on hippocampal and amygdala volumes in patients with major depression and in healthy control subjects. | genomic_alterations | {
"id": 627,
"name": "BDNF",
"pos": [
29,
4
]
} | {
"id": "C1269683",
"name": "Major Depressive Disorder",
"pos": [
109,
16
]
} |
Severe thrombocytopenia (PLT < 20 × 10<sup>9</sup>/L), identified in 31 (26.5%) patients, was associated with poor survival. | genomic_alterations | {
"id": 27163,
"name": "NAAA",
"pos": [
25,
3
]
} | {
"id": "C0040034",
"name": "Thrombocytopenia",
"pos": [
7,
16
]
} |
Role of the heme oxygenase/carbon monoxide pathway in the pathogenesis and prevention of hepatic encephalopathy. | therapeutic | {
"id": 3162,
"name": "HMOX1",
"pos": [
12,
16
]
} | {
"id": "C0019151",
"name": "Hepatic Encephalopathy",
"pos": [
89,
22
]
} |
Multivariate analyses of other clinical phenotypes, including gender, asthma, and meconium ileus demonstrated no differences between groups based on ABH type. | NA | {
"id": 8846,
"name": "ALKBH1",
"pos": [
149,
3
]
} | {
"id": "C2939175",
"name": "Meconium ileus",
"pos": [
82,
14
]
} |
We have successfully isolated a cell line (IEC-1) from an intraepidermal carcinoma of the skin of a patient and compared its behavior, in vitro, to normal human epidermal keratinocytes (HEK) and squamous cell carcinoma cell lines (SCCs). | NA | {
"id": 2042,
"name": "EPHA3",
"pos": [
186,
3
]
} | {
"id": "C0699893",
"name": "Skin carcinoma",
"pos": [
73,
21
]
} |
Overexpression of PP1 (threefold) was associated with depressed cardiac function, dilated cardiomyopathy, and premature mortality, consistent with heart failure. | NA | {
"id": 5540,
"name": "NPY4R",
"pos": [
18,
3
]
} | {
"id": "C0007193",
"name": "Cardiomyopathy, Dilated",
"pos": [
82,
22
]
} |
We thus demonstrated that in DFSP evolution to high grade sarcoma, EGFR and SNAIL were involved, with EGFR activation and signaling through TOR and STAT5a/b downstream effectors, which could lead on to new therapies for advanced DFSP. | biomarker | {
"id": 6097,
"name": "RORC",
"pos": [
140,
3
]
} | {
"id": "C1334008",
"name": "High Grade Sarcoma",
"pos": [
47,
18
]
} |
Germline mutation of the LKB1 gene, which encodes a serine/threonine kinase that acts as a tumor suppressor, has been identified as a cause of PJS. | genomic_alterations | {
"id": 6794,
"name": "STK11",
"pos": [
25,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
91,
5
]
} |
Moreover, we evaluated obesity-induced adipose tissue inflammation and insulin resistance in mice lacking MAP3K8 and WT mice on a high-fat diet (HFD) for 16 weeks. | NA | {
"id": 1326,
"name": "MAP3K8",
"pos": [
106,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
54,
12
]
} |
Mechanically, we demonstrated that FOXO1 was the target of miR-374a in glioma. | biomarker | {
"id": 2308,
"name": "FOXO1",
"pos": [
35,
5
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
71,
6
]
} |
The comparison of the patient and control groups based on SCL-90-R findings demonstrated that the patient group scores in somatization, anxiety (p = 0.000), depression (p = 0.003), anger (p = 0.02), interpersonal sensitivity (p = 0.006), phobia (p = 0.001), paranoid thoughts (p = 0.012), psychosis (p = 0.031) subscales and additional subscale (p = 0.014) and general symptom index (p = 0.001) scores were higher. | genomic_alterations | {
"id": 3855,
"name": "KRT7",
"pos": [
58,
3
]
} | {
"id": "C0033975",
"name": "Psychotic Disorders",
"pos": [
289,
9
]
} |
The role of p73 G4C14-to-A4T14 polymorphism in the susceptibility to cervical cancer. | genomic_alterations | {
"id": 7161,
"name": "TP73",
"pos": [
12,
3
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
69,
15
]
} |
The WHO 2007 classification of tumors of the CNS distinguishes between diffuse astrocytoma WHO grade II (A II(WHO2007)) and anaplastic astrocytoma WHO grade III (AA III(WHO2007)). | genomic_alterations | {
"id": 27239,
"name": "GPR162",
"pos": [
105,
4
]
} | {
"id": "C0334579",
"name": "Anaplastic astrocytoma",
"pos": [
124,
22
]
} |
The frequencies of the different genotypes for the Leiden V mutation and ACE I/D polymorphism in the 3 subgroups of stroke were compared with 199 stroke-free control subjects whose MRI findings were normal. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
181,
3
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
146,
6
]
} |
Oral delivery of ACE2/Ang-(1-7) bioencapsulated in plant cells protects against experimental uveitis and autoimmune uveoretinitis. | NA | {
"id": 59272,
"name": "ACE2",
"pos": [
17,
4
]
} | {
"id": "C0042164",
"name": "Uveitis",
"pos": [
93,
7
]
} |
Because IFN-gamma enhances IgG2 production, and IgG2 antibodies to HIV antigens and the 'high-affinity' polymorphism of FcgammaRIIa (the major Fc receptor for IgG2) have been associated with a favourable outcome of HIV infection, we examined the association of IgG2 antibodies to HIV p24 and 'high-affinity' polymorphisms of FcgammaRIIa with control of HIV replication in these patients. | genomic_alterations | {
"id": 3458,
"name": "IFNG",
"pos": [
8,
9
]
} | {
"id": "C0019693",
"name": "HIV Infections",
"pos": [
215,
13
]
} |
Taken together, our results suggest that in the hypoxic microenvironment, HIF1-α signaling supports LSC persistence independent of BCR-ABL1 kinase activity. | NA | {
"id": 25,
"name": "ABL1",
"pos": [
135,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
48,
7
]
} |
Despite being a mediator of proinflammatory responses in colitis, MMP-9 plays a protective role and acts as a tumor suppressor in CAC by modulating Notch-1 activation, thereby resulting in activation of p21(WAF1/Cip1) and suppression of beta-catenin. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
212,
4
]
} | {
"id": "C0009319",
"name": "Colitis",
"pos": [
57,
7
]
} |
Quantitative analyses of the NOD1, NOD2 and NF-kB proteins were also performed western blotting following challenge infections with viable S. pneumoniae. | NA | {
"id": 64127,
"name": "NOD2",
"pos": [
35,
4
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
116,
10
]
} |
After characterization of the armed CRAd, we demonstrated that infection of breast cancer cells by Ad5-Δ24-sOPG-Fc-RGD both killed the infected cells by oncolysis and inhibited the formation of osteoclasts in an in vitro co-culture model. | NA | {
"id": 57482,
"name": "CRACD",
"pos": [
36,
4
]
} | {
"id": "C0333516",
"name": "Tumor necrosis",
"pos": [
153,
9
]
} |
Higher CRP levels were positively associated with diabetes mellitus, independent of smoking, waist circumference, hypertension, and other confounders. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
7,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
84,
7
]
} |
SMN gene exon 7 was deleted in all type II SMA patients while exon 8 was deleted in 19 of 21 type II patients. | genomic_alterations | {
"id": 8926,
"name": "SNURF",
"pos": [
0,
3
]
} | {
"id": "C0026847",
"name": "Spinal Muscular Atrophy",
"pos": [
43,
3
]
} |
Reverse transcriptase polymerase chain reaction (RT-PCR) using NPM and ALK primers consistently detects a fusion product in Ki-1 ALCL cases with the translocation. | NA | {
"id": 238,
"name": "ALK",
"pos": [
71,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
149,
13
]
} |
In VEGFR1 TK(-/-) mice, ALT levels remained high at 48 h and extensive hepatic necrosis and hemorrhage were observed, as well as high mortality. | NA | {
"id": 2321,
"name": "FLT1",
"pos": [
3,
6
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
92,
10
]
} |
MBNL1, a splicing factor that is sequestered in myotonic dystrophy patients by binding to expanded r(CUG)n repeat hairpins, does not bind the C9orf72 repeats, but the splicing factor ASF/SF2 can bind the r(GGGGCC)n repeat. | NA | {
"id": 6426,
"name": "SRSF1",
"pos": [
187,
3
]
} | {
"id": "C0027126",
"name": "Myotonic Dystrophy",
"pos": [
48,
18
]
} |
Here we report that CPT induced in Bowes melanoma cells apoptosis which is essentially p53 and mitochondria-dependent but with some involvement of caspase-2 and p73. | NA | {
"id": 56994,
"name": "CHPT1",
"pos": [
20,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
41,
8
]
} |
These findings suggest that the <i>TIMD4-HAVCR1</i> variants may be the genetic risk factors for CHD and IS. | genomic_alterations | {
"id": 91937,
"name": "TIMD4",
"pos": [
41,
5
]
} | {
"id": "C0948008",
"name": "Ischemic stroke",
"pos": [
117,
2
]
} |
HCCS1 overexpression induces apoptosis via cathepsin D and intracellular calcium, and HCCS1 disruption in mice causes placental abnormality. | NA | {
"id": 55275,
"name": "VPS53",
"pos": [
86,
5
]
} | {
"id": "C1306893",
"name": "Anomaly of placenta",
"pos": [
118,
21
]
} |
In murine models of chronic myelogenous leukemia (CML), CCL3 is critical for the maintenance of a leukemia stem cell population, and leukemia progression. | biomarker | {
"id": 6348,
"name": "CCL3",
"pos": [
56,
4
]
} | {
"id": "C0280141",
"name": "Acute Undifferentiated Leukemia",
"pos": [
98,
18
]
} |
Specifically, our linkage results suggest that there is a prostate cancer susceptibility gene on chromosome 17 that is independent of ELAC2. | NA | {
"id": 60528,
"name": "ELAC2",
"pos": [
134,
5
]
} | {
"id": "C3469524",
"name": "PROSTATE CANCER, SUSCEPTIBILITY TO",
"pos": [
58,
30
]
} |
The high-risk genotype CC of GNAS1 gene showed threefold increase in risk to RCC relative to the TT genotype (unadjusted odds ratio [OR]=3.023, 95% confidence interval [CI]: 1.734-5.270). | genomic_alterations | {
"id": 2778,
"name": "GNAS",
"pos": [
29,
5
]
} | {
"id": "C0279702",
"name": "Conventional (Clear Cell) Renal Cell Carcinoma",
"pos": [
77,
3
]
} |
Our data suggest that haploinsufficiency for Egr1 plays a role in murine leukemogenesis, and in the development of AML/MDS characterized by abnormalities of chromosome 5. | NA | {
"id": 1958,
"name": "EGR1",
"pos": [
45,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
140,
13
]
} |
Rescue of STMN1 could partly reverse the effect of miR-770 in TNBC behaviors. | biomarker | {
"id": 768222,
"name": "MIR770",
"pos": [
51,
7
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
62,
4
]
} |
DCT, unlike Tyr, is fully processed along the secretory pathway in both pigmented and amelanotic melanoma cells. | NA | {
"id": 1638,
"name": "DCT",
"pos": [
0,
3
]
} | {
"id": "C0206735",
"name": "Melanoma, Amelanotic",
"pos": [
86,
19
]
} |
A similar trend was discernible in the tumors from SFN-treated TRAMP mice compared with those of control mice, but the difference was not significant. | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
51,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
39,
6
]
} |
Pre-diagnostic smoking behaviour and poorer prognosis in a German breast cancer patient cohort - Differential effects by tumour subtype, NAT2 status, BMI and alcohol intake. | NA | {
"id": 10,
"name": "NAT2",
"pos": [
137,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
158,
14
]
} |
The Notch1/cyclooxygenase-2/Snail/E-cadherin pathway is associated with hypoxia-induced hepatocellular carcinoma cell invasion and migration. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
34,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
84,
7
]
} |
As part of a multidisciplinary study, an apparently balanced de novo translocation between chromosomes 2 and 9 [46,XY,t(2;9)(p13;p24)] was identified in a subject with pervasive developmental disorder not otherwise specified (PDD-NOS), and no distinctive dysmorphic features. | NA | {
"id": 928,
"name": "CD9",
"pos": [
129,
3
]
} | {
"id": "C0432072",
"name": "Dysmorphic features",
"pos": [
255,
19
]
} |
Moreover, our data also show that the intracellular increase of TRIP-Br1 protein resulting from serum starvation seems to occur in part through the blockage of PI3K/AKT signaling pathway. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
160,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
102,
10
]
} |
Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice. | NA | {
"id": 4646,
"name": "MYO6",
"pos": [
35,
4
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
89,
8
]
} |
We studied 341 healthy controls (male/female = 178/162), 39 patients with CD (31/8), 43 patients with ulcerative colitis (UC) (22/21) and 19 patients with infectious enterocolitis (8/11). | genomic_alterations | {
"id": 5175,
"name": "PECAM1",
"pos": [
74,
6
]
} | {
"id": "C1142115",
"name": "Infectious Enterocolitis",
"pos": [
155,
24
]
} |
We have now generated knock-in mice with two different point mutations in Nefl: P8R that has been reported in multiple families with variable age of onset and N98S that has been described as an early-onset, sporadic mutation in multiple individuals. | NA | {
"id": 4747,
"name": "NEFL",
"pos": [
74,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
207,
8
]
} |
The translocation-Ets-leukaemia (TEL) and AML1 genes are very often involved in chromosomal translocations in haematopoietic malignancies. | NA | {
"id": 2120,
"name": "ETV6",
"pos": [
33,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
4,
13
]
} |
Parkin protects against neurotoxicity in the 6-hydroxydopamine rat model for Parkinson's disease. | therapeutic | {
"id": 5071,
"name": "PRKN",
"pos": [
0,
6
]
} | {
"id": "C0242423",
"name": "Ramsay Hunt Paralysis Syndrome",
"pos": [
24,
13
]
} |
Because MAV is less common in the general population than migraine or migraine with aura, it may be a better migraine syndrome to detect susceptibility alleles. | NA | {
"id": 11275,
"name": "KLHL2",
"pos": [
8,
3
]
} | {
"id": "C0154723",
"name": "Migraine with Aura",
"pos": [
70,
18
]
} |
Dietary Se significantly decreased renal lipid oxidation, phospho-P65, TNFα gene expression, MCP-1 and Cl-Tyr/Tyr, improved NO bioavailability in aorta but not in the renal microvasculature, and inhibited proteinuria. | NA | {
"id": 6347,
"name": "CCL2",
"pos": [
93,
5
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
205,
11
]
} |
Because this translocation is difficult to detect using standard cytogenetic techniques, 27 previously karyotyped B-lineage acute lymphoblastic leukemia (ALL) cell lines were evaluated for the presence of the TEL-AML1 fusion using the reverse transcriptase-polymerase chain reaction (RT-PCR), fluorescence in situ hybridization (FISH), and cDNA sequencing. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
329,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
13,
13
]
} |
We screened 90 cases of gastric carcinoma (GCA) samples for beta-catenin exon 3 mutation and assessed its possible relationship with microsatellite instability (MSI). | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
60,
12
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
133,
26
]
} |
This SNP genotyping study identified chromosomal aberrations associated with disease progression in OS and disclosed LSAMP as a novel tumor suppressor gene in OS. | NA | {
"id": 4045,
"name": "LSAMP",
"pos": [
117,
5
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
37,
23
]
} |
These findings also indicate that optineurin-myosin VI dysfunction is a common feature of both sporadic and familial ALS. | NA | {
"id": 10133,
"name": "OPTN",
"pos": [
34,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
95,
8
]
} |
By screening families with epilepsy for mutations in Hcn1 and Hcn2 genes, we found a recessive loss-of-function point mutation in the gene coding for the HCN2 channel in a patient with sporadic idiopathic generalized epilepsy. | genomic_alterations | {
"id": 610,
"name": "HCN2",
"pos": [
154,
4
]
} | {
"id": "C0270850",
"name": "Idiopathic generalized epilepsy",
"pos": [
194,
31
]
} |
Susceptibility to type 1 diabetes in the Senegalese population is linked to HLA-DQ and not TAP and LMP genes. | genomic_alterations | {
"id": 2317,
"name": "FLNB",
"pos": [
91,
3
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
18,
15
]
} |
This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy, fukutin-related proteinopathy, rigid spine syndrome, and glycosylation disorders of α-dystroglycan. | biomarker | {
"id": 3908,
"name": "LAMA2",
"pos": [
89,
11
]
} | {
"id": "C4551860",
"name": "Ullrich congenital muscular dystrophy",
"pos": [
123,
37
]
} |
The fibrinogen effect was genotype specific, however, in that the increase in platelet aggregability with higher fibrinogen was present for the Pl(A1/A1) genotype (P=0.0005 and P=0.03 for epinephrine- and ADP-induced aggregation, respectively) but not for the Pl(A2)-positive genotype (P>0.90). | NA | {
"id": 23038,
"name": "WDTC1",
"pos": [
205,
3
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
113,
10
]
} |
A 2-fold increase in new woven bone formed in the calvaria at sites of previous bone resorption was observed in CHO/TNF mice treated with PTHrP. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
116,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
80,
15
]
} |
Together, our results suggest the distinct roles of ATP and adenosine released by osteocytes and the activation of corresponding receptors P2X7 and A2A signaling on breast cancer cell growth, migration and bone metastasis. | biomarker | {
"id": 5027,
"name": "P2RX7",
"pos": [
139,
4
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
165,
13
]
} |
We analyzed genetic factors, including 14 single nucleotide polymorphisms (SNPs), environmental risk factors (body mass index, age at menarche, pregnancy, age at first birth, breastfeeding, family history of breast cancer, age at menopause, use of hormone replacement therapy, alcohol intake, and smoking), serum hormones and growth factors (estradiol, testosterone, prolactin, insulin-like growth factor 1 [IGF1] and IGF binding protein 3 [IGFBP3]), and mammographic density in 913 women with breast cancer and 278 disease-free controls. | NA | {
"id": 3479,
"name": "IGF1",
"pos": [
408,
4
]
} | {
"id": "C1629609",
"name": "Age at menopause",
"pos": [
223,
16
]
} |
Strong positive staining for p185 protein was found in 10 patients (20%) with infiltrating ductal breast carcinoma and correlated with complete negative estrogen/progesterone receptor status and with histologic grade G3. | biomarker | {
"id": 5241,
"name": "PGR",
"pos": [
162,
21
]
} | {
"id": "C1134719",
"name": "Invasive Ductal Breast Carcinoma",
"pos": [
78,
36
]
} |
Integrated hemodynamic, hormonal, and renal actions of urocortin 2 in normal and paced sheep: beneficial effects in heart failure. | therapeutic | {
"id": 90226,
"name": "UCN2",
"pos": [
53,
11
]
} | {
"id": "C1959583",
"name": "Myocardial Failure",
"pos": [
116,
13
]
} |
Stable SPRR2A transfection into two cholangiocarcinoma cell lines (SG231 and HuCCT-1), previously shown by us to induce permanent EMT, resulted in local aggressiveness but an inability to form metastases. | NA | {
"id": 6700,
"name": "SPRR2A",
"pos": [
7,
6
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
153,
14
]
} |
C-344T polymorphism of the aldosterone synthase gene and blood pressure in the elderly: a population-based study. | NA | {
"id": 1585,
"name": "CYP11B2",
"pos": [
27,
20
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
57,
14
]
} |
Further studies are necessary to confirm a role of NLRP1 in the pathophysiology of MS. | biomarker | {
"id": 22861,
"name": "NLRP1",
"pos": [
51,
5
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
83,
2
]
} |
In conclusion, somatic <i>STAT3</i> mutations and STAT3 activation are as frequent in Felty syndrome as they are in large granular lymphocyte leukemia. | genomic_alterations | {
"id": 6774,
"name": "STAT3",
"pos": [
62,
5
]
} | {
"id": "C1522378",
"name": "Leukemia, Large Granular Lymphocytic",
"pos": [
128,
34
]
} |
We conducted a case-control study to investigate the role of three common single nucleotide polymorphisms of IL-10 (-592G/A, -819T/C, and -1082A/C) in the development of hepatitis B virus (HBV)-related hepatocellular carcinoma (HCC). | genomic_alterations | {
"id": 3586,
"name": "IL10",
"pos": [
109,
5
]
} | {
"id": "C0019163",
"name": "Hepatitis B",
"pos": [
170,
11
]
} |
The enhanced expression of AQP4 in optic nerve astrocytes following elevation of IOP may explain the astrocytic hypertrophy normally seen in glaucoma patients and may involve alteration in the activity of ubiquitin-dependent proteasomal degradation system. | NA | {
"id": 361,
"name": "AQP4",
"pos": [
27,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
112,
11
]
} |
<i>HLA-DQA1*0104</i> (<i>p</i> value corrected by false discovery rate method [<i>Pc</i>] = 4.72 × 10<sup>-22</sup>, odds ratio [OR] = 13.81), <i>-DQB1*0503</i> (<i>Pc</i> = 1.95 × 10<sup>-14</sup>, OR = 9.51), and <i>-DRB1*1405</i> (<i>Pc</i> = 8.06 × 10<sup>-19</sup>, OR = 12.80) were significant risk alleles for the occurrence of D-ATIN and TINU. | genomic_alterations | {
"id": 3123,
"name": "HLA-DRB1",
"pos": [
309,
4
]
} | {
"id": "C1843273",
"name": "Tubulointerstitial nephritis and uveitis",
"pos": [
466,
4
]
} |
Copy number variations of C4 isotypes (C4A and C4B) were detected by real-time PCR in 905 patients with BD, 205 patients with ankylosing spondylitis (AS) and acute anterior uveitis, and 1,238 controls. | NA | {
"id": 720,
"name": "C4A",
"pos": [
47,
3
]
} | {
"id": "C0038013",
"name": "Ankylosing spondylitis",
"pos": [
126,
22
]
} |
Bidirectional signals transduced by TOPK-ERK interaction increase tumorigenesis of HCT116 colorectal cancer cells. | NA | {
"id": 55872,
"name": "PBK",
"pos": [
36,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
66,
13
]
} |
To test the genetic alteration in the p27 and p57 genes, KIP family CDKI genes, 30 gastric tumor-normal pairs and 8 gastric cancer cell lines were analyzed for mutations by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP). | NA | {
"id": 10519,
"name": "CIB1",
"pos": [
57,
3
]
} | {
"id": "C0038356",
"name": "Stomach Neoplasms",
"pos": [
83,
13
]
} |
The 14-3-3 proteins regulate diverse biological processes that are implicated in cancer development, and seven 14-3-3 isoforms were identified with isoform-specific roles in different human tumors. | NA | {
"id": 10971,
"name": "YWHAQ",
"pos": [
111,
6
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
81,
6
]
} |
The orphan GPCR, GPR88, modulates function of the striatal dopamine system: a possible therapeutic target for psychiatric disorders? | biomarker | {
"id": 8322,
"name": "FZD4",
"pos": [
11,
4
]
} | {
"id": "C0233514",
"name": "Abnormal behavior",
"pos": [
110,
21
]
} |
We studied 8 SNPs in the CDA, DCK, DCTD, SLC28A3, and SLC29A1 genes in 144 patients with childhood acute lymphoblastic leukemia treated according to ALLIC BFM 1990, 1995 and 2002 protocols. | NA | {
"id": 1635,
"name": "DCTD",
"pos": [
35,
4
]
} | {
"id": "C0023452",
"name": "Childhood Acute Lymphoblastic Leukemia",
"pos": [
89,
38
]
} |
In the present study, we sought to assess the relationship between the C3435T polymorphism in ABCB1 gene and the risk of breast cancer in a sample of the Moroccan population. | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
94,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
121,
13
]
} |
Inhibition of migration and invasion by berberine via inactivation of PI3K/Akt and p38 in human retinoblastoma cell line. | biomarker | {
"id": 26073,
"name": "POLDIP2",
"pos": [
83,
3
]
} | {
"id": "C0035335",
"name": "Retinoblastoma",
"pos": [
96,
14
]
} |
In order to understand the roles of Uev1A in colon cancer progression, we experimentally manipulated the Uev1A level in HCT116 colon cancer cells and found that <i>UEV1A</i> overexpression alone is sufficient to promote invasion <i>in vitro</i> and metastasis <i>in vivo</i>. | biomarker | {
"id": 387521,
"name": "TMEM189",
"pos": [
36,
5
]
} | {
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
45,
12
]
} |
In the present study, using GFP-ATG8 gene as a marker for tracking putative autophagosomes, we confirmed that autophagic vacuolization may lead to autophagic cell death in the DBA-treated parasites. | biomarker | {
"id": 23710,
"name": "GABARAPL1",
"pos": [
32,
4
]
} | {
"id": "C2676137",
"name": "Diamond-Blackfan Anemia 1",
"pos": [
176,
3
]
} |
Further, tumorigenesis in Dcn(-/-) mice was associated with disruption of intestinal maturation, including decreased cell differentiation and increased proliferation, which were linked to the downregulation of p21(WAF1/cip1), p27(kip1), intestinal trefoil factor and E-cadherin and to the upregulation of beta-catenin signaling. | NA | {
"id": 1027,
"name": "CDKN1B",
"pos": [
230,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
9,
13
]
} |
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