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We compared the effects of infigratinib (NVP-BGJ398), a new FGF receptor-1 inhibitor, with or without the PDE-5 inhibitor sildenafil, on vascular function and remodelling as well as on gene expression of signal transducers for receptors of TGF-β (Smads-1/2/4) and transcription factor of endothelial-mesenchymal transition (Twist-1) in established experimental PAH. | biomarker | {
"id": 7291,
"name": "TWIST1",
"pos": [
324,
7
]
} | {
"id": "C3203102",
"name": "Idiopathic pulmonary arterial hypertension",
"pos": [
361,
3
]
} |
In two cases the appearance of 14q32/IGH translocation was first detected in the bone marrow (BM) or in the lymph node (LN) and 13-58 months later in the peripheral blood (PB). | NA | {
"id": 3492,
"name": "IGH",
"pos": [
37,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
41,
13
]
} |
The impact of At1r inhibition via losartan on the anti-leukaemic effects of doxorubicin in acute myeloid leukaemia. | biomarker | {
"id": 185,
"name": "AGTR1",
"pos": [
14,
4
]
} | {
"id": "C0023467",
"name": "Leukemia, Myelocytic, Acute",
"pos": [
91,
23
]
} |
Of the two IGF ligands, IGF-I interacts exclusively with IGF1R, whereas IGF-II recognizes an additional receptor (XR), because the growth retardation of embryos lacking both IGR1R and IGF-II (30% of normal birthweight) is more severe than that manifested in either class of single Igf1r or Igf2 null mutants (45 and 60% of normal, respectively). | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
290,
4
]
} | {
"id": "C0005612",
"name": "Birth Weight",
"pos": [
206,
11
]
} |
To determine to what extent double inherited thrombophilias are associated with adverse obstetric complications correlated with fetoplacental insufficiency, such as preeclampsia, hemolytic anemia elevated liver enzymes and low platelet count (HELLP) syndrome, gestational hypertension, fetal growth restriction (FGR), intrauterine death (ID), abruptio placentae and disseminated intravascular coagulopathy. | NA | {
"id": 2268,
"name": "FGR",
"pos": [
312,
3
]
} | {
"id": "C0005779",
"name": "Blood Coagulation Disorders",
"pos": [
393,
12
]
} |
There are various lines of evidence that confirm the role of Ets-1, a proto-oncoprotein, in tumor invasion, progression, and chemoresistance. | biomarker | {
"id": 2113,
"name": "ETS1",
"pos": [
61,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
92,
14
]
} |
MSP was positive in 81% (21 of 26) of cancers and polyps and in only 4% (1 of 14) of normal mucosa. | NA | {
"id": 89782,
"name": "LMLN",
"pos": [
0,
3
]
} | {
"id": "C0032584",
"name": "polyps",
"pos": [
50,
6
]
} |
These studies support the thesis that one of the major genetic factors controlling the development of sarcoidosis is located within the DRB1 locus in the HLA class II region. | genomic_alterations | {
"id": 129831,
"name": "RBM45",
"pos": [
136,
4
]
} | {
"id": "C0036202",
"name": "Sarcoidosis",
"pos": [
102,
11
]
} |
Likewise, overexpression of autologous murine 5T4 by B16 F10 melanoma cells and A9 L fibroblasts accentuates the 5T4 phenotype, which is characterized by a spindle-like morphology, increased motility, and reduced adhesion and proliferation rate. | NA | {
"id": 2159,
"name": "F10",
"pos": [
57,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
213,
8
]
} |
Using the function-blocking anti-alphav monoclonal antibody 17E6, applied to monolayer cultures of breast cancer lines, it was found that treatment of cells possessing detergent-insoluble (implying attachment to the actin cytoskeleton) E-cadherin resulted in the adoption of a spheroid configuration of cell growth. | biomarker | {
"id": 60,
"name": "ACTB",
"pos": [
216,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
99,
13
]
} |
The fertile group showed significantly higher levels of PSG1 and HLA-E mRNA (both P < 0.05) than the infertile group, whereas PRM2 levels were not significantly different. | NA | {
"id": 5620,
"name": "PRM2",
"pos": [
126,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
101,
9
]
} |
Carotid atherosclerosis (CA) is one of the most common causes of stroke, and recent studies suggest that pathways initiated by the interaction of the plasma vitamin K-dependent protein GAS6 with the tyrosine kinase receptors TYRO3, AXL and MERTK (TAM) may have a relevant role in atherogenesis. | NA | {
"id": 7301,
"name": "TYRO3",
"pos": [
225,
5
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
65,
6
]
} |
Infection with an adenovirus expressing the mt32IkappaBalpha superrepressor (Ad.IkappaBalpha-mt32), which prevents p65 nuclear translocation, inhibited AEG-1-induced enhanced agar cloning efficiency and increased matrigel invasion of HeLa cells. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
80,
12
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
18,
10
]
} |
A survey of hypertrophy signaling molecules revealed increased protein kinase C (PKC) alpha and delta, and confocal microscopy showed abnormal subcellular distribution of PKCalpha in Rab1a transgenics. | NA | {
"id": 5861,
"name": "RAB1A",
"pos": [
183,
5
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
12,
11
]
} |
Matriptase and its cognate inhibitor, HGF activator inhibitor 1 (HAI-1) colocalize on the cell periphery of breast cancer cells and form stable complexes in the extracellular milieu, suggesting that the inhibitor serves to prevent undesired proteolysis in these cells. | NA | {
"id": 3083,
"name": "HGFAC",
"pos": [
38,
13
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
108,
13
]
} |
Mammary tumor incidence was lowest in ICR-EPA (15%) and highest in AL-Con mice (87%), whereas AL-EPA, CCR-Con, CCR-EPA, and ICR-Con groups had mammary tumor incidence rates of 63%, 47%, 40%, and 59%, respectively. | NA | {
"id": 7076,
"name": "TIMP1",
"pos": [
115,
3
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
143,
13
]
} |
The indications for using ACTH included congestive heart failure, chronic renal insufficiency, gastrointestinal bleeding, or no response to NSAID: All episodes of pseudogout resolved in an average of 4.2 days. | NA | {
"id": 5443,
"name": "POMC",
"pos": [
26,
4
]
} | {
"id": "C0017181",
"name": "Gastrointestinal Hemorrhage",
"pos": [
95,
25
]
} |
Recombinant adenovirus Ad-UPII-E1A and Ad-UPII-Null were constructed. | NA | {
"id": 7379,
"name": "UPK2",
"pos": [
26,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
12,
10
]
} |
Endometrial S100A11 is a crucial intermediator in EGF-stimulated embryo adhesion, endometrium receptivity, and immunotolerance via affecting Ca2+ uptake and release from intracellular Ca2+ stores. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
50,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
72,
8
]
} |
Together these data present the first systems level view of adaptive and basal phosphotyrosine signaling in BRAF- and NRAS-mutant melanoma. | genomic_alterations | {
"id": 4893,
"name": "NRAS",
"pos": [
118,
4
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
130,
8
]
} |
MEK5 induced a form of hypertrophy in which cardiomyocytes acquired an elongated morphology and sarcomeres were assembled in a serial manner. | NA | {
"id": 5607,
"name": "MAP2K5",
"pos": [
0,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
23,
11
]
} |
Other genes over-expressed in both UC and CD included the REG gene family and the calcium-binding S100 protein genes S100A9 and S100P. | genomic_alterations | {
"id": 6285,
"name": "S100B",
"pos": [
98,
4
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
42,
2
]
} |
Taken together, these findings, the first to be analyzed in north Indian population, suggest that combined GSTT1 , GSTM1 and CYP1A1 polymorphisms could be susceptible to lung cancer induced by bidi (an Indian cigarette) smoking. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
115,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
220,
7
]
} |
DI17E6 promoted detachment and inhibited adhesion of prostate cancer cells to several extracellular matrix (ECM) proteins and cells found in the bone microenvironment but had no impact on cell viability, cell-cycle, and caspase-3/7 activity. | biomarker | {
"id": 22915,
"name": "MMRN1",
"pos": [
108,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
53,
15
]
} |
We preformed linkage analyses in eight OI type III families using RFLPs associated with the COL1A1 and COL1A2 loci to determine whether mutations in the genes for type I collagen were responsible for this form of OI. | genomic_alterations | {
"id": 1278,
"name": "COL1A2",
"pos": [
103,
6
]
} | {
"id": "C0268362",
"name": "Osteogenesis imperfecta type III (disorder)",
"pos": [
39,
11
]
} |
SI-CLP treatment also aggravated arthritis-related inflammation in wild-type and SI-CLP(-/-) mice. | NA | {
"id": 66005,
"name": "CHID1",
"pos": [
81,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
51,
12
]
} |
Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) can cause familial and sporadic amyotrophic lateral sclerosis (ALS) and rarely frontotemproal dementia (FTD). | genomic_alterations | {
"id": 56902,
"name": "PNO1",
"pos": [
35,
19
]
} | {
"id": "C1611743",
"name": "Familial (FPAH)",
"pos": [
88,
8
]
} |
We concluded that individuals who had sought help for both insomnia and snoring showed impaired sleep in terms of PSG and that this was not reflected in ratings of sleep or health. | biomarker | {
"id": 5673,
"name": "PSG5",
"pos": [
114,
3
]
} | {
"id": "C0917801",
"name": "Sleeplessness",
"pos": [
59,
8
]
} |
A rare polymorphic variant of NBS1 reduces DNA repair activity and elevates chromosomal instability. | NA | {
"id": 4683,
"name": "NBN",
"pos": [
30,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
76,
23
]
} |
Mutations of the SPRED1 gene, one of a family of Sprouty (Spry)/Spred proteins known to "downregulate" mitogen activated protein kinase (MAPK) signalling, have been identified in patients with a mild neurofibromatosis type 1 (NF1) phenotype with pigmentary changes but no neurofibromas (Legius syndrome).To ascertain the frequency of SPRED1 mutations as a cause of this phenotype and to investigate whether other SPRED/SPRY genes may be causal, a panel of unrelated mild NF1 patients were screened for mutations of the SPRED1-3 and the SPRY1-4 genes. | genomic_alterations | {
"id": 10252,
"name": "SPRY1",
"pos": [
536,
5
]
} | {
"id": "C0027830",
"name": "neurofibroma",
"pos": [
272,
13
]
} |
In conclusion, based on our findings and recent data from the literature, there is evidence that EXOC6B and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability. | biomarker | {
"id": 23233,
"name": "EXOC6B",
"pos": [
97,
6
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
190,
23
]
} |
Reduced protein expression of Mcl-1, cyclin D1, phosphorylated retinoblastoma protein pRB (T821), and significant transcriptional down-regulation of genes related to cellular proliferation and survival were shown in some patients posttreatment, indicative of cell cycle modulation by seliciclib, more specifically inhibition of cdk2/cyclin E, cdk7/cyclin H, and cdk9/cyclin T. Brief treatment with this regimen of seliciclib in patients with nasopharyngeal carcinoma is tolerable at 400 mg bd and associated with tumor pharmacodynamic changes consistent with cdk inhibition, and warrants further efficacy studies in this tumor. | NA | {
"id": 1017,
"name": "CDK2",
"pos": [
328,
4
]
} | {
"id": "C2931822",
"name": "Nasopharyngeal carcinoma",
"pos": [
442,
24
]
} |
In combination with insulin-like growth factors, that were found to be efficient inducers of c-jun in breast cancer cells, E2 synergistically stimulates TRE activity and proliferation. | NA | {
"id": 7193,
"name": "TRE-TTC3-1",
"pos": [
153,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
102,
13
]
} |
In patients with elevated LV end-diastolic pressure, an intracoronary infusion of substance P increased LV stroke volume from 72+/-13 to 91+/-16 mL (P=0.06) and LV stroke work from 67+/-11 to 90+/-15 g. m (P=0.03) and shifted the LV end-diastolic pressure-volume relation to the right. | NA | {
"id": 6863,
"name": "TAC1",
"pos": [
82,
11
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
237,
18
]
} |
Various amounts of poloxamer 407 (PL, Lutrol F127, BASF) (8%, 10%, or 12% of PU by weight) were added to control the release of GEM from membranes. | NA | {
"id": 2669,
"name": "GEM",
"pos": [
128,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
83,
6
]
} |
We conducted targeted sequencing of ABCA7, BIN1, CD2AP, CLU, CR1, EPHA1, MS4A4A/MS4A6A, and PICALM in 3 independent LOAD cohorts: 176 patients from 124 Caribbean Hispanics families, 120 patients and 33 unaffected individuals from the 129 National Institute on Aging LOAD Family Study; and 263 unrelated Canadian individuals of European ancestry (210 sporadic patients and 53 controls). | NA | {
"id": 274,
"name": "BIN1",
"pos": [
43,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
350,
8
]
} |
Methylation in 3 genes emerged as genome-wide-significant predictors of depression: DNA-Binding Protein Inhibitor ID-3 (ID3); Glutamate Receptor, Ionotropic N-methyl-D-aspartate (NMDA) 1 (GRIN1); and Tubulin Polymerization Promoting Protein (TPPP) (p < 5.0 × 10(-7), all analyses). | NA | {
"id": 114787,
"name": "GPRIN1",
"pos": [
188,
5
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
72,
10
]
} |
Human observational studies have shown that, in interaction with life stress, the short or S-allele of the serotonin transporter gene-linked polymorphic region (5-HTTLPR) is associated with an enhanced risk for depression. | genomic_alterations | {
"id": 6532,
"name": "SLC6A4",
"pos": [
161,
8
]
} | {
"id": "C0038443",
"name": "Stress, Psychological",
"pos": [
65,
11
]
} |
Frameshift (+1) proteins such as APP(+1) and UBB(+1) accumulate in sporadic cases of Alzheimer disease (AD) and in older subjects with Down syndrome (DS). | NA | {
"id": 351,
"name": "APP",
"pos": [
33,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
67,
8
]
} |
The presence of the variant MBL*B was associated with higher plasma viral load levels, suggesting the importance of the MBL gene polymorphism in the clinical evolution of HIV-1-infected patients. | NA | {
"id": 4153,
"name": "MBL2",
"pos": [
120,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
68,
10
]
} |
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). | NA | {
"id": 10535,
"name": "RNASEH2A",
"pos": [
109,
8
]
} | {
"id": "C1290884",
"name": "Inflammatory disorder",
"pos": [
39,
21
]
} |
RIP-B7.1 mice expressing the costimulator molecule B7.1 (CD80) on pancreatic beta-cells are a well established model to characterize preproinsulin-specific CD8 T-cell responses and experimental autoimmune diabetes (EAD). | NA | {
"id": 8292,
"name": "COLQ",
"pos": [
215,
3
]
} | {
"id": "C0205734",
"name": "Diabetes, Autoimmune",
"pos": [
194,
19
]
} |
We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed characteristic CADASIL abnormalities on brain pathological examination. | genomic_alterations | {
"id": 4854,
"name": "NOTCH3",
"pos": [
178,
6
]
} | {
"id": "C0917805",
"name": "Transient Cerebral Ischemia",
"pos": [
62,
26
]
} |
The 1239G/C polymorphism in exon 5 of BACE1 gene may be associated with sporadic Alzheimer's disease in Chinese Hans. | NA | {
"id": 23621,
"name": "BACE1",
"pos": [
38,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
72,
8
]
} |
Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). | biomarker | {
"id": 987,
"name": "LRBA",
"pos": [
81,
4
]
} | {
"id": "C0033626",
"name": "Protein Deficiency",
"pos": [
87,
18
]
} |
By non-parametric and parametric linkage analyses, and LD modeling, in the Italy-1 and Italy-3 families we hereby show that the MODY3 mutation and the PSMD9 IVS3 + nt460A/IVS3 + nt437T/G197 SNPs act in an additional model to cause diabetes. | genomic_alterations | {
"id": 5715,
"name": "PSMD9",
"pos": [
151,
5
]
} | {
"id": "C0011849",
"name": "Diabetes Mellitus",
"pos": [
231,
8
]
} |
There were 85 patients with 17p (p53) deletion with multiple aberrations and 20 patients with a 17p (p53) deletion as single aberration or with only one additional chromosomal abnormality. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
101,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
164,
23
]
} |
We first conducted case-control analyses of the GAD genes with AD and, within the cases, examined associations with age at onset of AD, withdrawal symptoms, and two quantitative measures: initial sensitivity and tolerance (based on scales from the Self-Rating of the Effects of Ethanol) [Schuckit, M.A., Smith, T.L., Tipp, J.E., 1997. | NA | {
"id": 2571,
"name": "GAD1",
"pos": [
48,
3
]
} | {
"id": "C0087169",
"name": "Withdrawal Symptoms",
"pos": [
136,
19
]
} |
Once hyperphagia is established, apparently as a secondary feature of the obese syndrome, the development of obesity is accelerated, the obese mutants having an impairment in the dietary stimulation of BAT thermogenesis. | NA | {
"id": 570,
"name": "BAAT",
"pos": [
202,
3
]
} | {
"id": "C0020505",
"name": "Hyperphagia",
"pos": [
5,
11
]
} |
The PANC-1 and MIA PaCa-2 pancreatic cancer cell lines showed >2-fold higher Insig2 mRNA expression levels under hypoxic conditions (1% O2) than under normoxic conditions (21% O2 ). | NA | {
"id": 51141,
"name": "INSIG2",
"pos": [
77,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
113,
7
]
} |
We have previously reported on Meso-TR3, a constitutive TRAIL trimer targeted to the biomarker MUC16 (CA125), in which the entire ectodomain of human mesothelin was genetically fused to the TR3 platform, facilitating attachment to the cancer cells via the MUC16 receptor. | biomarker | {
"id": 10232,
"name": "MSLN",
"pos": [
150,
10
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
235,
6
]
} |
While K2P1.1, K2P3.1, K2P5.1, K2P6.1, K2P7.1 and K2P10.1 showed significant underexpression across the cancer types examined. | NA | {
"id": 54207,
"name": "KCNK10",
"pos": [
49,
7
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
103,
6
]
} |
In multivariable models, IL-6 and TNF-alpha fully explained observed associations of C-reactive protein and fibrinogen with risk of ischemic stroke, but TNF-alpha retained borderline significance after full adjustment. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
153,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
108,
10
]
} |
After comprehensively screening the miRNAs and SNPs, we elected to evaluate the association between SNP rs2682818 in miR-618 and CRC susceptibility. | genomic_alterations | {
"id": 693203,
"name": "MIR618",
"pos": [
117,
7
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
129,
3
]
} |
We also discover a processed pseudogene for USA-CYP, a cyclophilin associated with U4/U6 snRPNs, and a novel gene, DDP2, encoding a mitochondrial protein similar to the X-linked deafness-dystonia protein, which is juxtaposed 5'-to-5' to SDHD. | NA | {
"id": 26521,
"name": "TIMM8B",
"pos": [
115,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
187,
8
]
} |
Moreover, IgG immunoreactivity to Nedd5 C-ter was significantly higher in patients with systemic sclerosis than in patients of group B or healthy subjects (0.18 +/- 0.18 vs, respectively, 0.11 +/- 0.07, P = 0.046; and 0.09 +/- 0.045, P = 0.003). | NA | {
"id": 4735,
"name": "SEPTIN2",
"pos": [
34,
5
]
} | {
"id": "C0036421",
"name": "Systemic Scleroderma",
"pos": [
88,
18
]
} |
Sequencing analysis of reverse transcription-polymerse chain reaction (RT-PCR) generated transcripts from all three chondroid lipomas defined the fusion as occurring between exons 5 and 9 of C11orf95 and MKL2, respectively. | NA | {
"id": 65998,
"name": "C11orf95",
"pos": [
191,
8
]
} | {
"id": "C0023798",
"name": "Lipoma",
"pos": [
126,
7
]
} |
Furthermore, NaHS attenuated the increase in the I/R-induced (1) phosphorylation of p38 mitogen-activated protein kinase and Jun N-terminal kinase, (2) translocation from the cytosol to the nucleus of the p65 subunit of nuclear factor-kappaB, (3) intercellular adhesion molecule 1 expression, (4) polymorphonuclear leukocyte accumulation, (5) myeloperoxidase activity, (6) malondialdehyde levels, and (7) nitrotyrosine staining determined in the AAR obtained from rat hearts subjected to regional myocardial I/R. | NA | {
"id": 3383,
"name": "ICAM1",
"pos": [
247,
33
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
152,
13
]
} |
Neither the prothrombin gene G20210A mutation nor the platelet glycoprotein IIIa polymorphism PlA2 seem to be associated with central retinal vein occlusion. | genomic_alterations | {
"id": 2147,
"name": "F2",
"pos": [
12,
11
]
} | {
"id": "C0154841",
"name": "Central retinal vein occlusion",
"pos": [
126,
30
]
} |
Through germline genomic analyses in patients with lens and eye abnormalities, we discovered functional mutations in the Signal Induced Proliferation Associated 1 Like 3 (SIPA1L3) gene, which encodes a previously uncharacterized member of the Signal Induced Proliferation Associated 1 (SIPA1 or SPA1) family, with a role in Rap1 signalling. | NA | {
"id": 6494,
"name": "SIPA1",
"pos": [
295,
4
]
} | {
"id": "C0015393",
"name": "Eye Abnormalities",
"pos": [
60,
17
]
} |
Inflammation, particularly the pro-inflammatory cytokine tumour necrosis factor (TNF), increases necrosis of skeletal muscle. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
81,
3
]
} | {
"id": "C0035410",
"name": "Rhabdomyolysis",
"pos": [
97,
27
]
} |
The objectives of this study were to investigate changes of pulmonary pathology and gene expressions, including endothelin (ET)-1, endothelin receptor A (ERA), inducible nitric oxide synthase (NOS2), endothelial nitric oxide synthase (NOS3), matrix metalloproteinase (MMP) 2, tissue inhibitor of matrix metalloproteinases (TIMP) and caspase 3, and to evaluate the effect of simvastatin on monocrotaline (M)-induced pulmonary hypertension. | NA | {
"id": 339345,
"name": "NANOS2",
"pos": [
193,
4
]
} | {
"id": "C0748168",
"name": "Pulmonary Pathology",
"pos": [
60,
19
]
} |
Pharmacological or RNA interference-mediated inhibition of AURKA significantly reduced ovarian carcinoma cell migration and adhesion and the activation-associated phosphorylation of the cytoskeletal regulatory protein SRC at tyrosine 416 (pSRC(Y416)). | NA | {
"id": 6790,
"name": "AURKA",
"pos": [
59,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
124,
8
]
} |
Our study showed that adenovirus-mediated antisense ODC and AdoMetDC expression inhibits tumor cell growth through blocking the polyamine synthesis pathway. | NA | {
"id": 4953,
"name": "ODC1",
"pos": [
52,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
22,
10
]
} |
Neither the body mass index change nor lipid changes were significantly affected by the INSIG2 gene variant. | NA | {
"id": 51141,
"name": "INSIG2",
"pos": [
88,
11
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
12,
15
]
} |
Fifteen individuals with PWS due to a typical deletion [(DEL) type I; n = 5, type II; n = 10], eight with PWS due to UPD, and 25 age-matched healthy-weight individuals (HWC) participated in structural magnetic resonance imaging (MRI) scans. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
229,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
149,
6
]
} |
Testicular, breast, and uterine DLBCL (as well as possibly primary cutaneous DLBCL, leg-type) share a high prevalence of the non-germinal center B cell (non-GCB) phenotype and the MYD88/CD79B-mutated (MCD) genotype. | genomic_alterations | {
"id": 4615,
"name": "MYD88",
"pos": [
180,
5
]
} | {
"id": "C0079744",
"name": "Diffuse Large B-Cell Lymphoma",
"pos": [
77,
5
]
} |
Here we demonstrate extracellular signal-responsive translocation of FGD1, but not FGD3. | NA | {
"id": 2245,
"name": "FGD1",
"pos": [
69,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
52,
13
]
} |
The association of adiponectin genetic variations with dyslipidemia and blood pressure was less explored. | genomic_alterations | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
19,
11
]
} | {
"id": "C0242339",
"name": "Dyslipidemias",
"pos": [
55,
12
]
} |
While ETS-1 knockdown inhibited cell proliferation, migration, and invasion, it could still re-sensitize cells to cisplatin treatment. | biomarker | {
"id": 2113,
"name": "ETS1",
"pos": [
6,
5
]
} | {
"id": "C1269955",
"name": "Tumor Cell Invasion",
"pos": [
67,
8
]
} |
We show that, in addition to renin, angiotensinogen (AGT) is produced by some cysts and dilated tubules. | NA | {
"id": 183,
"name": "AGT",
"pos": [
53,
3
]
} | {
"id": "C0010709",
"name": "Cyst",
"pos": [
78,
5
]
} |
Type III 3-methylglutaconic aciduria (MGA) (MIM 258501) consists of early bilateral optic atrophy, later development of spasticity, extrapyramidal dysfunction and occasionally cognitive deficits, and urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
44,
3
]
} | {
"id": "C0029124",
"name": "Optic Atrophy",
"pos": [
84,
13
]
} |
We investigated the mechanisms of insulin secretion by transfecting into a pituitary adenoma cell line (AtT20) a combination of genes encoding human insulin (HI), glucose transporter type 2 (GLUT2) and glucokinase (GK), followed by studying the characteristics of these cells. | NA | {
"id": 6514,
"name": "SLC2A2",
"pos": [
191,
5
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
75,
17
]
} |
Eighteen colorectal cancer (CRC) patients from 13 kindreds meeting the Amsterdam criteria for HNPCC were analyzed and compared to sporadic CRC patients with MSI-H. We detected mutations of E2F-4 at the same repeat sequence in HNPCC. | NA | {
"id": 1874,
"name": "E2F4",
"pos": [
189,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
130,
8
]
} |
These results indicate that TGF-beta secreted by ovarian carcinoma cells owns vital function in the process of converting peripheral CD4(+)CD25(-) T cells into CD4(+)CD25(+) regulatory T cells, which may provide one immunotherapeutic target for ovarian cancer. | NA | {
"id": 920,
"name": "CD4",
"pos": [
160,
3
]
} | {
"id": "C4721610",
"name": "Carcinoma, Ovarian Epithelial",
"pos": [
49,
17
]
} |
Homozygosity for the PNPLA3 p.I148M polymorphism influences steatosis and fibrogenesis in chronic hepatitis C (CHC). | genomic_alterations | {
"id": 80339,
"name": "PNPLA3",
"pos": [
21,
6
]
} | {
"id": "C1861453",
"name": "Pseudohyperkalemia Cardiff",
"pos": [
111,
3
]
} |
These data demonstrate that 1) murine NK cells regulate human cell engraftment in scid recipients; 2) human CD4+ cells are required for human CD8+ cell engraftment; and 3) once engrafted, human CD8+ cells regulate human CD4+ and CD20+ cell expansion, Ig levels, and outgrowth of EBV-related lymphoproliferative disorders. | NA | {
"id": 920,
"name": "CD4",
"pos": [
220,
3
]
} | {
"id": "C0024314",
"name": "Lymphoproliferative Disorders",
"pos": [
291,
29
]
} |
Our objective was to demonstrate the feasibility of brightfield break-apart in situ hybridization (ba-ISH) for anaplastic lymphoma kinase (ALK) and mucosa-associated lymphoid tissue translocation protein 1 (MALT1) genes as models. | NA | {
"id": 238,
"name": "ALK",
"pos": [
139,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
182,
13
]
} |
In the muscle-derived tumor alveolar rhabdomyosarcoma (ARMS), a chromosomal translocation t(2:13) generates the PAX3/forkhead homolog in rhabdomyosarcoma (FKHR) oncoprotein. | NA | {
"id": 5077,
"name": "PAX3",
"pos": [
112,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
64,
25
]
} |
In a logistic regression model, adjusting for confounding by age, body mass index, and gender, HMW adiponectin and its ratio to total adiponectin were significantly associated with ADHD. | NA | {
"id": 57587,
"name": "CFAP97",
"pos": [
95,
3
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
66,
15
]
} |
Here, we selected four commonly studied polymorphisms in VEGF, rs3025039 (known as +936 C/T), rs1109324, rs154765 and rs833052, one polymorphism at the promoter of the VEGFR1 (-710 C/T) and another in the FGF2, rs1449683, gene to explore their association with BC susceptibility. | genomic_alterations | {
"id": 2321,
"name": "FLT1",
"pos": [
168,
6
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
261,
2
]
} |
Six of eight (75%) APS1 patients with T1D were homozygous for the class I INS VNTR (susceptibility) allele, compared with eight of 25 (32%) of APS1 patients without T1D (P = 0.042). | genomic_alterations | {
"id": 3630,
"name": "INS",
"pos": [
74,
3
]
} | {
"id": "C0085859",
"name": "Polyglandular Type I Autoimmune Syndrome",
"pos": [
143,
4
]
} |
Since the TCL6 gene was expressed in T-cell leukemia carrying a t(14;14)(q11;q32.1) chromosome translocation and was not expressed in normal T-cells (just like the TML1 and TCL1 genes), it is also a candidate gene potentially involved in leukemogenesis. | NA | {
"id": 9623,
"name": "TCL1B",
"pos": [
164,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
84,
24
]
} |
In the group of 17 OI patients 11 were heterozygous for insertion of 4 bp in 3'UTR region of COL1A1. | genomic_alterations | {
"id": 1277,
"name": "COL1A1",
"pos": [
93,
6
]
} | {
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
19,
2
]
} |
In cases of pre-eclampsia and in some circumstances of preterm labor-raised umbilical cord serum, VEGF levels might be correlated with the clinical development of the above pathological disorders. | NA | {
"id": 7422,
"name": "VEGFA",
"pos": [
98,
4
]
} | {
"id": "C0022876",
"name": "Premature Obstetric Labor",
"pos": [
55,
13
]
} |
Biallelic mutations in the Cx26 gene account for 83% of familial cases and 44% of the sporadic cases. | NA | {
"id": 2706,
"name": "GJB2",
"pos": [
27,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
86,
8
]
} |
These findings suggested that NF45 might play an important role in promoting the tumorigenesis of ESCC, and thus be a promising therapeutic target to prevent ESCC progression. | NA | {
"id": 3608,
"name": "ILF2",
"pos": [
30,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
81,
13
]
} |
To investigate whether specific T-cell populations are overrepresented in tumor-infiltrating lymphocytes (TIL) in skin cancer, we determined the T-cell receptor (TCR) diversity in biopsy specimens of basal cell carcinoma and squamous cell carcinoma. | NA | {
"id": 7096,
"name": "TLR1",
"pos": [
106,
3
]
} | {
"id": "C0007117",
"name": "Basal cell carcinoma",
"pos": [
200,
20
]
} |
The blood-derived RNA levels of the adenylosuccinate synthase (ADSS) and ataxia telangiectasia mutated (ATM) genes were found to be down- and up-regulated, respectively, in schizophrenics compared with controls, and ADSS and ATM were among eight biomarker genes to discriminate schizophrenics from normal controls. | NA | {
"id": 159,
"name": "ADSS2",
"pos": [
216,
4
]
} | {
"id": "C0039446",
"name": "Telangiectasis",
"pos": [
80,
14
]
} |
Furthermore, plasma samples and LV-endomyocardial biopsies were procured from aortic stenosis and mitral stenosis patients during surgery to evaluate myocardial expression of apelin and APJ-receptor and plasma levels of apelin. | NA | {
"id": 187,
"name": "APLNR",
"pos": [
186,
3
]
} | {
"id": "C0003507",
"name": "Aortic Valve Stenosis",
"pos": [
78,
15
]
} |
CLL may be classified by the Rai or Binet staging system, mutational status of the immunoglobulin variable heavy-chain gene (IGVH), ZAP-70 overexpression, cytogenetic abnormalities (13q-, + 12, 11q-, 17p-) and expression of several cell surface antigens (CD38, CD49d) that correlate with risk of disease progression. | NA | {
"id": 3676,
"name": "ITGA4",
"pos": [
261,
5
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
155,
25
]
} |
17β-estradiol (E2) or the ERα-selective agonist PPT did not affect the content and localization of N-cadherin in PC-3 and PNT1A cells or E-cadherin in DU-145 cells. | biomarker | {
"id": 2099,
"name": "ESR1",
"pos": [
26,
3
]
} | {
"id": "C3714948",
"name": "PACHYONYCHIA CONGENITA 3",
"pos": [
113,
4
]
} |
In cohort 2, serum CCDC80 was positively linked to the inflammatory biomarker C-reactive protein (r=0.46; <i>P</i>=0.009), atherosclerosis (carotid intima-media thickness, r=0.62; <i>P</i><0.001) and hepatic steatosis (ANOVA <i>P</i>=0.025). | biomarker | {
"id": 151887,
"name": "CCDC80",
"pos": [
19,
6
]
} | {
"id": "C0015695",
"name": "Fatty Liver",
"pos": [
227,
17
]
} |
The gene expression profile of ENL lesions comprised an integrated pathway of TLR2 and Fc receptor activation, neutrophil migration, and inflammation, providing insight into mechanisms of neutrophil recruitment in human infectious disease. | NA | {
"id": 4298,
"name": "MLLT1",
"pos": [
31,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
137,
12
]
} |
We hypothesized that nitazoxanide (NTZ) added to pegylated interferon alfa-2a (PEG-IFN) and weight-based ribavirin (WBR) would improve hepatitis C virus (HCV) virologic responses in HCV treatment-naïve HIV-1/HCV genotype 1 coinfected persons. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
83,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
92,
6
]
} |
Global DNA methylation profiling reveals silencing of a secreted form of Epha7 in mouse and human germinal center B-cell lymphomas. | biomarker | {
"id": 2045,
"name": "EPHA7",
"pos": [
73,
5
]
} | {
"id": "C0079731",
"name": "B-Cell Lymphomas",
"pos": [
114,
16
]
} |
Loss of function FLG alleles were first identified as causative of ichthyosis vulgaris (IV) and were subsequently found to be major predisposing factors for atopic dermatitis (AD) and atopic disorders. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
17,
3
]
} | {
"id": "C0011615",
"name": "Dermatitis, Atopic",
"pos": [
157,
17
]
} |
Homozygous deletion of the CDKN2 gene was detected in only 1 tumour. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
27,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
61,
6
]
} |
Impaired circulating CD4+ LAP+ regulatory T cells in patients with acute coronary syndrome and its mechanistic study. | NA | {
"id": 53,
"name": "ACP2",
"pos": [
26,
3
]
} | {
"id": "C0948089",
"name": "Acute Coronary Syndrome",
"pos": [
67,
23
]
} |
In addition, IL-17E induces G-CSF production in vitro and mIL-17E-transgenic mice had increased serum G-CSF and exhibit neutrophilia, a property shared by IL-17. | NA | {
"id": 3605,
"name": "IL17A",
"pos": [
155,
5
]
} | {
"id": "C0151683",
"name": "Neutrophilia (finding)",
"pos": [
120,
12
]
} |