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dict |
|---|---|---|---|
IRE1α-XBP1 controls T cell function in ovarian cancer by regulating mitochondrial activity. | biomarker | {
"id": 7494,
"name": "XBP1",
"pos": [
6,
4
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
39,
14
]
} |
We also identified two genes significantly associated with melanoma metastasis to the regional lymph nodes (PIK3CG and IL2RA), and two genes significantly associated with sex (KDM5C and KDM6A). | biomarker | {
"id": 8242,
"name": "KDM5C",
"pos": [
176,
5
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
59,
8
]
} |
However, expression of LAMB2-S83R significantly increased the rate of progression to kidney failure in a <i>Col4a3</i><sup>-/-</sup> mouse model of autosomal recessive Alport syndrome and increased proteinuria in <i>Col4a5</i><sup>+/-</sup> females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of collagen <i>α</i>3<i>α</i>4<i>α</i>5(IV) in the GBM. | genomic_alterations | {
"id": 3913,
"name": "LAMB2",
"pos": [
23,
5
]
} | {
"id": "C1567744",
"name": "Alport Syndrome, Autosomal Recessive",
"pos": [
172,
35
]
} |
Luteolin treatment significantly inhibited glioblastoma cell migration, and this effect was associated with downregulated matrix metalloproteinase (MMP)-2, MMP-9 and upregulated tissue inhibitor of metalloproteinase (TIMP)-1 and TIMP-2. | biomarker | {
"id": 7077,
"name": "TIMP2",
"pos": [
229,
6
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
43,
12
]
} |
Models using specific PIK kinase inhibitors, somatic cell gene targeting, and RNA interference demonstrated that the observed detrimental effects of caffeine on CSC were attributable specifically to the inhibition of the PIK kinase ataxia telangiectasia- and Rad3-related (ATR). | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
273,
3
]
} | {
"id": "C0236734",
"name": "Caffeine related disorders",
"pos": [
149,
8
]
} |
Indeed, our findings show a mechanistic link between hypoxia-induced accumulation of the α-subunit of HIF-1 (HIF-1α), increased expression of ADAM10, and decreased surface MICA levels leading to tumor cell resistance to lysis mediated by innate immune effectors. | NA | {
"id": 102,
"name": "ADAM10",
"pos": [
142,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
53,
7
]
} |
Gene-related Chinese NS facial features were described using artificial intelligence (AI).NGS identified pathogenic variants in 103 Chinese patients in eight NS-related genes: PTPN11 (48.5%), SOS1 (12.6%), SHOC2 (11.7%), KRAS (9.71%), RAF1 (7.77%), RIT1 (6.8%), CBL (0.97%), NRAS (0.97%), and LZTR1 (0.97%). | genomic_alterations | {
"id": 8036,
"name": "SHOC2",
"pos": [
206,
5
]
} | {
"id": "C0028326",
"name": "Noonan Syndrome",
"pos": [
158,
2
]
} |
We apply the HuGE NET guidelines to search PubMed and EMBASE databases for publications investigating single nucleotide polymorphisms (SNPs) and cerebral palsy outcome. | NA | {
"id": 2004,
"name": "ELK3",
"pos": [
18,
3
]
} | {
"id": "C0007789",
"name": "Cerebral Palsy",
"pos": [
145,
14
]
} |
We sought to determine if XRCC2 mutation is important to uterine carcinosarcoma tumorigenesis and whether the XRCC2 poly-T tract is a target for mutation in cells lacking MMR. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
171,
3
]
} | {
"id": "C0007140",
"name": "Carcinosarcoma",
"pos": [
65,
14
]
} |
Paroxysmal exercise-induced dyskinesia (PED) is a rare form of dystonia induced by prolonged exercise, usually involving lower limbs. | NA | {
"id": 4948,
"name": "OCA2",
"pos": [
40,
3
]
} | {
"id": "C0013384",
"name": "Dyskinetic syndrome",
"pos": [
28,
10
]
} |
PSD might have a role in the treatment of RA synovitis controlling invasiveness. | NA | {
"id": 23761,
"name": "PISD",
"pos": [
0,
3
]
} | {
"id": "C0039103",
"name": "Synovitis",
"pos": [
45,
9
]
} |
IL-6 was strongly associated with markers of inflammation (C-reactive protein, fibrinogen, white cell count); plasma viscosity; elevated markers of coagulation (fibrin D-dimer, FVIII, FIX); markers of endothelial dysfunction (von Willebrand factor, tissue plasminogen activator); and to a smaller extent with platelet count, APC ratio and gamma glutamyltransferase. | NA | {
"id": 7450,
"name": "VWF",
"pos": [
226,
21
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
79,
10
]
} |
This is the first biologic insight into the function of this new putative cancer susceptibility gene, providing clues of how perturbation of ELAC2 might promote tumorigenesis through irregular cell division. | biomarker | {
"id": 60528,
"name": "ELAC2",
"pos": [
141,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
74,
6
]
} |
We first examined the effects of altered TAGLN expression on cell migration under both normoxic and hypoxic conditions. | NA | {
"id": 6876,
"name": "TAGLN",
"pos": [
41,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
100,
7
]
} |
Therefore, we screened the coding region and the 5' and 3' flanking region of the SOX3 gene for mutations by means of single-stranded conformation polymorphism and heteroduplex analysis in eight subjects with 46, XX sex reversal (SRY negative) and 25 subjects with 46, XY gonadal dysgenesis. | genomic_alterations | {
"id": 6658,
"name": "SOX3",
"pos": [
82,
4
]
} | {
"id": "C4479552",
"name": "46,XX SEX REVERSAL 4",
"pos": [
209,
33
]
} |
IL-12, IL-18, and IFN-gamma protein and IFN-gamma, T-bet, and GATA-3 messenger RNA (mRNA) were measured in PDE during various phases of peritonitis in 40 patients undergoing PD. | NA | {
"id": 30009,
"name": "TBX21",
"pos": [
51,
5
]
} | {
"id": "C0031154",
"name": "Peritonitis",
"pos": [
136,
11
]
} |
No effect of the polymorphism on diabetic neuropathy or diabetic nephropathy was found, but heterozygous or homozygous patients for the M55V polymorphism in the SUMO4 gene had a markedly reduced prevalence of diabetic retinopathy (odds ratio 0.37, 95%-confidence interval (CI) [0.32;0.43]; p=0.004). | NA | {
"id": 387082,
"name": "SUMO4",
"pos": [
161,
10
]
} | {
"id": "C0011882",
"name": "Diabetic Neuropathies",
"pos": [
33,
19
]
} |
Since it is known that TNFa2 and TNFApB is a high TNF-alpha responder, whereas TNFd3 is a TNF-alpha low responder, we propose that the TNF region of HLA contains polymorphic genes that confer susceptibility and resistance to the deleterious effects of UVB radiation on the induction of contact hypersensitivity. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
135,
3
]
} | {
"id": "C0162351",
"name": "Contact hypersensitivity",
"pos": [
286,
24
]
} |
Genes for sonic hedgehog (SHH), TNF-receptor-associated-factor 3 (TRAF3), rhoGTP-ase-activating protein 4 (ARHGAP4), deleted in colorectal carcinoma (DCC), cadherins 12 and 13 (CDH12 and 13), teratocarcinoma-derived growth-factor-1 (TDGF1), and transforming growth-factor-beta1 (TGFB1) were underexpressed in all tumors. | NA | {
"id": 7187,
"name": "TRAF3",
"pos": [
66,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
128,
20
]
} |
RBP4 appears, unlike in obesity or type 2 diabetes, not to be a relevant systemic factor in the pathogenesis of insulin resistance in liver cirrhosis. | NA | {
"id": 5433,
"name": "POLR2D",
"pos": [
0,
4
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
24,
7
]
} |
Oncogenic activation of the K-ras gene occurs in >90% of pancreatic ductal carcinoma and is found early in the PanIN-carcinoma sequence, but its functional roles remain poorly understood. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
28,
5
]
} | {
"id": "C1301034",
"name": "Pancreatic intraepithelial neoplasia",
"pos": [
114,
5
]
} |
These results indicate that the alpha-adrenoceptor mediated PLC activation may be involved in the process of NE-induced cardiac hypertrophy. | NA | {
"id": 3339,
"name": "HSPG2",
"pos": [
60,
3
]
} | {
"id": "C1383860",
"name": "Cardiac Hypertrophy",
"pos": [
120,
19
]
} |
The ataxia telangiectasia and rad-3-related kinase (ATR) is rapidly activated in response to UV-induced replication stress and proceeds to phosphorylate a plethora of downstream effectors that modulate primarily cell cycle checkpoints but also apoptosis and DNA repair. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
52,
3
]
} | {
"id": "C0004135",
"name": "Ataxia Telangiectasia",
"pos": [
4,
21
]
} |
In this investigation, we have examined the role of genetic variation in the PON3 gene in relation to PON1 activity and SLE risk in a biracial sample comprising 377 SLE patients and 482 controls from US whites and blacks. | genomic_alterations | {
"id": 5444,
"name": "PON1",
"pos": [
102,
4
]
} | {
"id": "C0024141",
"name": "Lupus Erythematosus, Systemic",
"pos": [
120,
3
]
} |
Statistical analysis was performed to assess whether the UCP2 45 bp del/ins polymorphism was associated with plasma total homocysteine levels and venous thrombosis risk. | NA | {
"id": 7351,
"name": "UCP2",
"pos": [
57,
4
]
} | {
"id": "C0042487",
"name": "Venous Thrombosis",
"pos": [
146,
17
]
} |
Our results implicate DCPS and more generally RNA catabolism, as a critical cellular process for neurological development, normal cognition and organismal homeostasis in humans. | NA | {
"id": 28960,
"name": "DCPS",
"pos": [
22,
4
]
} | {
"id": "C2712133",
"name": "Actual Effective Cognition",
"pos": [
123,
16
]
} |
In vivo elevation of LR11 was also observed with dietary fish oil in young rats with insulin resistance, a model for type II diabetes, another AD risk factor. | biomarker | {
"id": 6653,
"name": "SORL1",
"pos": [
21,
4
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
117,
16
]
} |
Postoperative long-term changes in LV indices were investigated in patients with asymptomatic aortic regurgitation (AR) and symptomatic aortic stenosis (AS) and related to alleles of ACE polymorphisms. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
183,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
81,
12
]
} |
Furthermore, we observed splicing abnormalities in a cell culture system expressing TDP-43 CTFs, and this is significant because the regulation of exon splicing is a known function of TDP-43. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
184,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
34,
13
]
} |
Mutations in the NPHS2 gene, encoding podocin, are a major cause of autosomal-recessive steroid-resistant nephrotic syndrome (SRNS) in childhood, accounting for up to 30% of sporadic and 20-40% of familial cases. | NA | {
"id": 7827,
"name": "NPHS2",
"pos": [
38,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
174,
8
]
} |
To clarify this issue and its epidemiological characteristics, we examined 37 formalin-fixed, paraffin-embedded specimens of CD30+ lymphomas from the United States and Hong Kong by reverse transcriptase-polymerase chain reaction (RT-PCR) for the status of the NPM and ALK genes, which are typically juxtaposed by the t(2;5) translocation. | NA | {
"id": 238,
"name": "ALK",
"pos": [
268,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
324,
13
]
} |
Additionally, the endothelial expression of P-selectin was evaluated using immunohistochemistry after 30 min of ischemia and 20 min of reperfusion. | NA | {
"id": 6403,
"name": "SELP",
"pos": [
44,
10
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
112,
8
]
} |
Urinary LTE4 was measured in two groups of children with CF: atopic (ACF group, n = 22) and nonatopic (NACF group, n = 13); and in two groups of unaffected children, those with atopic asthma (AA group, n = 11) and nonatopic normal control subjects (NN group, n = 12). | biomarker | {
"id": 387569,
"name": "ACF",
"pos": [
69,
3
]
} | {
"id": "C1827849",
"name": "IgE-mediated allergic asthma",
"pos": [
177,
13
]
} |
Thromboxane A2 and its receptor (TBXA2R) are involved in the constriction of vascular and respiratory smooth muscles. | NA | {
"id": 6915,
"name": "TBXA2R",
"pos": [
33,
6
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
61,
12
]
} |
Merosin-deficient congenital muscular dystrophy (CMD) is caused by mutations in the laminin alpha 2 chain gene. | genomic_alterations | {
"id": 3908,
"name": "LAMA2",
"pos": [
84,
15
]
} | {
"id": "C1861922",
"name": "CAMPOMELIC DYSPLASIA",
"pos": [
49,
3
]
} |
We have shown that TAL obtained from metastatic effusions of breast cancer patients contain lymphocytes that can recognize and lyse autologous and allogeneic tumor cells in a tumor-specific, HLA-A2-restricted fashion. | NA | {
"id": 90678,
"name": "LRSAM1",
"pos": [
19,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
175,
5
]
} |
Severe deficiencies of IGF-I, IGF-II, IGFBP-3, ALS and paradoxically high-normal bone mass in a child with insulin-resistance syndrome (Rabson-Mendenhall type). | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
30,
6
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
81,
9
]
} |
We found significant linkage of the SGK1 gene locus to diastolic blood pressure (P<0.0002) and suggestive evidence for linkage for systolic blood pressure (P<0.04), documenting the locus as a quantitative trait locus for blood pressure. | NA | {
"id": 6446,
"name": "SGK1",
"pos": [
36,
9
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
221,
14
]
} |
Later, a physical examination was performed, including the measurement of systolic blood pressure (SBP) and diastolic blood pressure (DBP), body mass index (BMI) and waist-to-hip ratio (WHR). | NA | {
"id": 1628,
"name": "DBP",
"pos": [
134,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
108,
24
]
} |
The most frequent chromosome/molecular rearrangements, that is, t(8;21)(q22;q22)/RUNX1-RUNX1T1 and inv(16)(p13q22)/t(16;16)(p13;q22)/CBFB-MYH11 characteristic of core-binding factor (CBF) AML and t(15;17)(q22;q12-21)/PML-RARA characteristic of acute promyelocytic leukemia (APL), confer favorable clinical outcome when patients receive optimal treatment, that is, regimens that include high-dose cytarabine for CBF AML and all-trans-retinoic acid and/or arsenic trioxide for APL. | NA | {
"id": 4629,
"name": "MYH11",
"pos": [
138,
5
]
} | {
"id": "C0023487",
"name": "Acute Promyelocytic Leukemia",
"pos": [
244,
28
]
} |
MVP-mediated exosomal sorting of miR-193a promotes colon cancer progression. | biomarker | {
"id": 406968,
"name": "MIR193A",
"pos": [
33,
8
]
} | {
"id": "C0007102",
"name": "Malignant tumor of colon",
"pos": [
51,
12
]
} |
In this study, we describe that focal cerebral ischemia in rats results in increased generation of laminin globular domain 3 (LG3), the c-terminal bioactive fragment of perlecan. | biomarker | {
"id": 3339,
"name": "HSPG2",
"pos": [
169,
8
]
} | {
"id": "C0007785",
"name": "Cerebral Infarction",
"pos": [
38,
17
]
} |
These cancers are thought to arise from preexisting dysplasia in a field of abnormal cells that often exhibits aneuploidy and p53 abnormalities. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
126,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
111,
10
]
} |
Critical role for peptide YY in protein-mediated satiation and body-weight regulation. | NA | {
"id": 5697,
"name": "PYY",
"pos": [
18,
10
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
68,
6
]
} |
Using single cell force traction microscopy, the net effect of HMGB1 signaling was a TLR4-dependent increase in cell force adhesion, accounting for the impaired enterocyte migration. | NA | {
"id": 3146,
"name": "HMGB1",
"pos": [
63,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
123,
8
]
} |
MicroRNA-15b is induced with E2F-controlled genes in HPV-related cancer. | biomarker | {
"id": 406949,
"name": "MIR15B",
"pos": [
0,
12
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
65,
6
]
} |
The present study evaluated these changes in asymptomatic MJD gene carriers, previously identified by molecular analysis. | NA | {
"id": 4287,
"name": "ATXN3",
"pos": [
58,
8
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
45,
12
]
} |
Furthermore, in vitro experiments revealed that cultured fibroblasts extracted from PDC tissue expressed the ARG2 transcript after exposure to hypoxia, which had arginase activity. | NA | {
"id": 384,
"name": "ARG2",
"pos": [
109,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
143,
7
]
} |
Phosphorylation of Y654, generated by hypoxia mediated, reactive oxygen species (ROS)-dependent Src kinase activation, was required for β-catenin to interact with HIF1α and Src, to promote HIF1α transcriptional activity, and for hypoxia-induced EMT. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
136,
9
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
229,
7
]
} |
We report four individuals from three unrelated families who have homozygous missense or compound heterozygous truncating mutations in UNC80 and persistent hypotonia, encephalopathy, growth failure, and severe intellectual disability. | NA | {
"id": 285175,
"name": "UNC80",
"pos": [
135,
5
]
} | {
"id": "C0085584",
"name": "Encephalopathies",
"pos": [
167,
14
]
} |
Human papillomavirus infection along with p53 expression plays a yet to be defined role in the pathogenesis of a limited number of cases of proliferative verrucous leukoplakia and squamous cell carcinoma. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
42,
3
]
} | {
"id": "C3697776",
"name": "Proliferative verrucous oral leukoplakia",
"pos": [
140,
35
]
} |
Early renal ischemia-reperfusion injury in humans is dominated by IL-6 release from the allograft. | biomarker | {
"id": 3569,
"name": "IL6",
"pos": [
66,
4
]
} | {
"id": "C0920646",
"name": "Ischemia of kidney",
"pos": [
6,
14
]
} |
CONCLUSIONS Taken together, these results suggest that BBR inhibits CVB3 replication through the suppression of JNK and p38 MAPK activation, shedding new light on the investigation of therapeutic strategies against CVB3-induced viral myocarditis. | biomarker | {
"id": 25897,
"name": "RNF19A",
"pos": [
120,
3
]
} | {
"id": "C0276138",
"name": "Viral myocarditis",
"pos": [
228,
17
]
} |
Next-generation molecular biology technologies have recently identified recurrent CIC and FUBP1 point mutations in 1p/19q codeleted and IDH-mutated oligodendrogliomas. | genomic_alterations | {
"id": 8880,
"name": "FUBP1",
"pos": [
90,
5
]
} | {
"id": "C0028945",
"name": "oligodendroglioma",
"pos": [
148,
18
]
} |
The study confirms the known protective effect of HbS against severe malaria and also reveals a protective effect of SNPs in the nitrogen oxide synthase 2 (NOS2) gene against malaria infection, anaemia and uncomplicated malaria. | NA | {
"id": 339345,
"name": "NANOS2",
"pos": [
156,
4
]
} | {
"id": "C0002871",
"name": "Anemia",
"pos": [
194,
7
]
} |
High levels of the p53 mutation most probably contribute to the pathogenesis of cancer in individuals with WD, but the cause and effect are not clear. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
19,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
80,
6
]
} |
Immunohistochemical analyses indicated that IL-6 and IL-6R were strongly expressed in misshapen cells, namely, dysmorphic neurons, giant neurons, and balloon cells. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
44,
4
]
} | {
"id": "C0017547",
"name": "Gigantism",
"pos": [
131,
5
]
} |
At present, a number of chromosomal regions have been identified for their frequent deletions in prostate cancer, including 2q13-q33, 5q14-q23, 6q16-q22, 7q22-q32, 8p21-p22, 9p21-p22, 10q23-q24, 12p12-13, 13q14-q21, 16q22-24, and 18q21-q24. | NA | {
"id": 11261,
"name": "CHP1",
"pos": [
169,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
97,
15
]
} |
In this randomized, open-label, parallel, active controlled clinical study, 139 patients with knee OA were randomly assigned to receive either a curcumin 500-mg (BCM-95<sup>®</sup>) capsule three times daily or a diclofenac 50-mg tablet two times daily for 28 days. | genomic_alterations | {
"id": 608,
"name": "TNFRSF17",
"pos": [
162,
3
]
} | {
"id": "C0409959",
"name": "Osteoarthritis, Knee",
"pos": [
99,
2
]
} |
To investigate whether the major genetic and environmental risk factors of age-related macular degeneration (AMD)-CFH Y402H and LOC387715 A69S and cigarette smoking-are also associated with polypoidal choroidal vasculopathy (PCV) and whether the associations of CFH Y402H and LOC387715 A69S with PCV are modified by smoking. | NA | {
"id": 387715,
"name": "ARMS2",
"pos": [
276,
9
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
316,
7
]
} |
IL-6 CC genotype (low expression) frequency was higher in patients with tricuspid valve insufficiency (p=0.002), while IFN-γ TT genotype (high expression) frequency was higher in patients with mitral valve prolapse (p=0.049). | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
119,
3
]
} | {
"id": "C0040961",
"name": "Tricuspid Valve Insufficiency",
"pos": [
72,
29
]
} |
Hormad1 is essential for mammalian gametogenesis as knockout male mice are infertile. | NA | {
"id": 84072,
"name": "HORMAD1",
"pos": [
0,
7
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
75,
9
]
} |
We report two sisters with childhood onset diabetes who are both heterozygous for the most common mutation in each of two transcription factors, HNF1A, and HNF4A. | NA | {
"id": 6927,
"name": "HNF1A",
"pos": [
145,
5
]
} | {
"id": "C1837352",
"name": "Childhood onset",
"pos": [
27,
15
]
} |
CdLS is caused by heterozygous mutations in NIPBL or cohesin subunits SMC1A and SMC3, and RBS is caused by homozygous mutations in ESCO2. | biomarker | {
"id": 9126,
"name": "SMC3",
"pos": [
80,
4
]
} | {
"id": "C0392475",
"name": "Roberts-SC phocomelia syndrome",
"pos": [
90,
3
]
} |
Symptomatic acute hepatitis including non-viral hepatitis and HAV infection showed significant increases of NKG2A expression compared to healthy controls. | NA | {
"id": 3821,
"name": "KLRC1",
"pos": [
108,
5
]
} | {
"id": "C1963279",
"name": "Viral Hepatitis, CTCAE 3",
"pos": [
42,
15
]
} |
Caffeic acid phenethyl ester (CAPE), a natural NF-kappaB inhibitor from honeybee propolis has been shown to have anti-tumor and anti-inflammatory properties. | NA | {
"id": 10592,
"name": "SMC2",
"pos": [
30,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
118,
5
]
} |
Kahalalide F induces necrosis-like cell death that involves depletion of ErbB3 and inhibition of Akt signaling. | NA | {
"id": 2065,
"name": "ERBB3",
"pos": [
73,
5
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
21,
8
]
} |
The results revealed that EEET increased myocardial hypertrophy (LV weight/tibial length), myocyte cross-sectional area, hypertrophy-related pathways (IL6/STAT3-MEK5-ERK5, calcineurin-NFATc3, p38 and JNK MAPK), hypertrophic markers (ANP/BNP), pro-apoptotic molecules (cytochrome C, cleaved caspase-3 and PARP), and fibrosis-related pathways (FGF-2-ERK1/2) and fibrosis markers (uPA, MMP-9 and -2). | NA | {
"id": 5595,
"name": "MAPK3",
"pos": [
348,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
68,
6
]
} |
By contrast, no significant association was detected in small series of either Norwegian lung ADCA patients or Italian lung squamous cell carcinoma (SQCC) patients. | NA | {
"id": 5173,
"name": "PDYN",
"pos": [
94,
4
]
} | {
"id": "C0149782",
"name": "Squamous cell carcinoma of lung",
"pos": [
119,
28
]
} |
In a cohort of 169 type 2 diabetic subjects, plasma levels of APOH, antibodies anti-APOH, lipoprotein subfractions, oxidation, inflammatory and insulin resistance markers and the Trp316Ser and Val247Leu variations in the APOH gene were analyzed. | NA | {
"id": 350,
"name": "APOH",
"pos": [
221,
9
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
144,
18
]
} |
Beta-adrenergic contribution to glucagon-induced glucose production and insulin secretion in uremia. | therapeutic | {
"id": 2641,
"name": "GCG",
"pos": [
32,
8
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
93,
6
]
} |
Copy number aberration, translocation and point mutation of FAT1, FAT2, FAT3, FAT4, FRMD1, FRMD6, NF2, WWC1, WWC2, SAV1, STK3, STK4, MOB1A, MOB1B, LATS1, LATS2, YAP1 and WWTR1/TAZ genes should be comprehensively investigated in various types of human cancers to elucidate the mutation landscape of the FAT‑Hippo signaling cascades. | NA | {
"id": 55233,
"name": "MOB1A",
"pos": [
157,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
36,
13
]
} |
Deletion of the GPER gene in mice abrogates vascular effects of GPER activation and is associated with visceral obesity. | NA | {
"id": 2852,
"name": "GPER1",
"pos": [
64,
4
]
} | {
"id": "C2936179",
"name": "Obesity, Visceral",
"pos": [
103,
16
]
} |
Interleukin 6 (IL6) and Estrogen Receptor alpha (ESR1) polymorphisms were assessed in conjunction with smoking. | NA | {
"id": 2099,
"name": "ESR1",
"pos": [
49,
4
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
103,
7
]
} |
In pancreatic cancer, the enhancement of integrin expression by GDNF signaling through the GDNF receptor strongly influences adhesion and invasion to ECM proteins. | NA | {
"id": 22915,
"name": "MMRN1",
"pos": [
150,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
125,
8
]
} |
Mesencephalic astrocyte-derived neurotrophic factor is involved in inflammation by negatively regulating the NF-κB pathway. | NA | {
"id": 7873,
"name": "MANF",
"pos": [
0,
51
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
67,
12
]
} |
We analyzed the polymorphic (CAG)n and (GGN)n repeats within the AR gene in men from 51 high-risk prostate cancer sibships, which included at least one affected and one unaffected man (n = 210). | NA | {
"id": 199720,
"name": "GGN",
"pos": [
40,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
98,
15
]
} |
No standard medical management guidelines exist for families with CDKN2A mutations; however, family history of melanoma and pancreatic cancer may warrant further discussion. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
66,
6
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
124,
17
]
} |
In the subgroup analysis, according to the type of leukemia, significant association was found between MDR1 G2677T polymorphism and myeloid leukemia but not lymphoblastic leukemia (TT vs. GG: OR = 0.66, 95% CI = 0.46-0.95, P = 0.026; TT vs. | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
103,
4
]
} | {
"id": "C0023449",
"name": "Acute lymphocytic leukemia",
"pos": [
157,
22
]
} |
This new cancer immunotherapy has the potential to be cost-effective and broadly applicable to tumors that overexpress mesothelin. | biomarker | {
"id": 10232,
"name": "MSLN",
"pos": [
119,
10
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
9,
6
]
} |
Functional analysis revealed that the Q648 variant had significantly reduced peptide translocation activity compared with TAP-1 (R648). | NA | {
"id": 2317,
"name": "FLNB",
"pos": [
122,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
85,
13
]
} |
Significant associations were found between the IL-8 AT genotype and weight loss (P = 0.019), shortness of breath (P = 0.043), and skin problems (P = 0.003). | genomic_alterations | {
"id": 3576,
"name": "CXCL8",
"pos": [
48,
4
]
} | {
"id": "C0013404",
"name": "Dyspnea",
"pos": [
94,
19
]
} |
The regulation of smMLCK expression by Ang II via Ras signaling is important in the regulation of vascular remodeling and blood pressure. | NA | {
"id": 4638,
"name": "MYLK",
"pos": [
18,
6
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
122,
14
]
} |
Under pathological conditions, Mac-1 is believed a key adhesion molecule that facilitates cancer progression and mediates the adhesion of tumour cells to the endothelium of blood vessels. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
31,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
126,
8
]
} |
Both Moyamoya disease (MMD) and intracranial atherosclerotic stenosis (ICAS) are more prevalent in Asians than in Westerners. | NA | {
"id": 23531,
"name": "MMD",
"pos": [
23,
3
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
61,
8
]
} |
Neutrophil elastase, cathepsin G, collagenase 2, and gelatinase B were detected around the root apex at 14 days, then these proteases increased gradually and demonstrated in and around the abscess at 21 and 28 days. | NA | {
"id": 1991,
"name": "ELANE",
"pos": [
0,
19
]
} | {
"id": "C0000833",
"name": "Abscess",
"pos": [
189,
7
]
} |
Recent genetic studies reveal that mutations in the gene GBA are the most widespread genetic risk factor for parkinsonism identified to date. | genomic_alterations | {
"id": 2629,
"name": "GBA",
"pos": [
57,
3
]
} | {
"id": "C0242422",
"name": "Parkinsonian Disorders",
"pos": [
109,
12
]
} |
TSU-PR1 was originally reported as a prostatic carcinoma cell line derived from a lymph node metastasis. | NA | {
"id": 140738,
"name": "TMEM37",
"pos": [
4,
3
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
82,
21
]
} |
In order to investigate the mechanisms of hypoxic regulation of PFKFB4 gene expression, we used dimethyloxalylglycine, which has the ability to mimic effect of hypoxia by significant induction of hypoxia-inducible factor (HIF-1alpha) protein levels. | NA | {
"id": 5210,
"name": "PFKFB4",
"pos": [
64,
11
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
160,
7
]
} |
There was no correlation between circulating beta-chemokines (MIP-1alpha, RANTES) and viral load in HIV-infected individuals. | NA | {
"id": 6352,
"name": "CCL5",
"pos": [
74,
6
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
86,
10
]
} |
We investigated the superphysiological and physiological roles of the GITR-GITRL pathway in the development of protective and pathogenic Th2 responses in murine infection models of filariasis (Litomosoides sigmodontis) and schistosomiasis (Schistosoma mansoni). | NA | {
"id": 8995,
"name": "TNFSF18",
"pos": [
75,
5
]
} | {
"id": "C0016085",
"name": "Filariasis",
"pos": [
181,
10
]
} |
In conclusion, periostin promotes kidney fibrosis via the p38 MAPK pathway following acute kidney injury triggered by a hypoxic or ischemic insult. | biomarker | {
"id": 1432,
"name": "MAPK14",
"pos": [
58,
3
]
} | {
"id": "C0022660",
"name": "Kidney Failure, Acute",
"pos": [
85,
19
]
} |
PAK3 related mental disability: further characterization of the phenotype. | NA | {
"id": 8874,
"name": "ARHGEF7",
"pos": [
0,
4
]
} | {
"id": "C1306341",
"name": "Mental handicap",
"pos": [
13,
17
]
} |
Palliative treatment for non-organ-confined prostate cancer aims to down-regulate the concentration of circulating androgen or to block the transcription activation function of the AR. | therapeutic | {
"id": 367,
"name": "AR",
"pos": [
181,
2
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
44,
15
]
} |
We estimated odds ratios and 95% confidence intervals from logistic models controlling for the matching variables for the relation between GGN repeat length and total prostate cancer and by stage/grade and by age at diagnosis. | NA | {
"id": 199720,
"name": "GGN",
"pos": [
139,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
167,
15
]
} |
Several genes, including SOD1, TDP-43, FUS, Ubiquilin 2, C9orf72 and Profilin 1, have been linked with the sporadic and familiar forms of ALS. | NA | {
"id": 6647,
"name": "SOD1",
"pos": [
25,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
107,
8
]
} |
We report on a de novo, apparently balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) involving three chromosomes in a 7-year-old boy with severe psychomotor retardation, neonatal muscular hypertonia, congenital heart defect, polysyndactyly of hands and feet, and dysmorphic features resembling Greig cephalopolysyndactyly syndrome. | NA | {
"id": 708,
"name": "C1QBP",
"pos": [
67,
3
]
} | {
"id": "C0265553",
"name": "Polysyndactyly",
"pos": [
226,
14
]
} |
Notably, PSME3 modulates lactate secretion in pancreatic cancer, suggesting a potential function in regulating pancreas fibrosis. | biomarker | {
"id": 10197,
"name": "PSME3",
"pos": [
9,
5
]
} | {
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
46,
17
]
} |
Polymorphisms in the oxidative stress genes, superoxide dismutase, glutathione peroxidase and catalase and risk of non-Hodgkin's lymphoma. | genomic_alterations | {
"id": 847,
"name": "CAT",
"pos": [
94,
8
]
} | {
"id": "C0220612",
"name": "Childhood Non-Hodgkin Lymphoma",
"pos": [
115,
22
]
} |
Germline mutations in MRG have been studied predominantly in patients with hereditary non-polyposis colorectal cancer (HNPCC) where it is associated with microsatellite instability (MSI). | NA | {
"id": 116511,
"name": "MAS1L",
"pos": [
22,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
154,
26
]
} |
Subsets and Splits