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The present study was undertaken to clarify the pharmacokinetics of 22-oxa-1,25-dihydroxyvitamin D3 (22-oxa-1,25-(OH)2D3, OCT), a vitamin D3 analogue with little calcemic activity, and its effect on the transcription of parathyroid hormone-related peptide (PTHRP) gene in nude mice bearing a human carcinoma (FA-6) associated with humoral hypercalcemia. | genomic_alterations | {
"id": 5741,
"name": "PTH",
"pos": [
220,
19
]
} | {
"id": "C0020437",
"name": "Hypercalcemia",
"pos": [
339,
13
]
} |
Selective degeneration of either peripheral sensory or sympathetic nerve fibers by their respective neurotoxins, capsaicin or 6-hydroxydopamime, significantly reduced the subcutaneous immigration of β-endorphin- (END-) and met-enkephalin- (ENK-)-containing polymorphonuclear leukocytes (PMN) (in the early phase) and mononuclear cells (in the late phase) during painful Freund's complete adjuvant (FCA) rat hind paw inflammation. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
213,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
416,
12
]
} |
Ratios of the consumed coagulation factors, prekallikrein, and HMW kininogen in rat plasma collected 7 h after intravenous injection of ETX were obtained as follows: prekallikrein (18.0 +/- 4.8%), HMW kininogen (36.2 +/- 1.9 %), factor XII (54.0 +/- 0.7%), factor VIII (86.1 +/- 1.8%), factor VII (35.6 +/- 7.7%), factor V (90.6 +/- 0.8%), and factor I (fibrinogen) (>89.6 +/- 0.0%). | NA | {
"id": 3426,
"name": "CFI",
"pos": [
344,
8
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
354,
10
]
} |
Constitutive Cdk2 activation through Cyclin D1 generates tumors in mice that are aneuploid and have many characteristics indicative of chromosomal instability. | NA | {
"id": 1017,
"name": "CDK2",
"pos": [
13,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
135,
23
]
} |
Hemophagocytosis by leukemic blasts in a case of acute megakaryoblastic leukemia with t(16;21)(p11;q22). | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
95,
3
]
} | {
"id": "C0023462",
"name": "Acute Megakaryocytic Leukemias",
"pos": [
49,
31
]
} |
E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
40,
5
]
} | {
"id": "C0014527",
"name": "Epidermolysis Bullosa",
"pos": [
133,
21
]
} |
The oncogene Lysosome-associated protein transmembrane-4β (LAPTM4B) gene was identified, and the polymorphism region in the 5'-UTR of this gene was certified to be associated with tumor susceptibility. | genomic_alterations | {
"id": 55353,
"name": "LAPTM4B",
"pos": [
59,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
180,
5
]
} |
Mechanistically, TNF-alpha present in RCM of A549 was found to mediate nuclear factor-kappaB (NF-kappaB) translocation to nucleus, whereas the soluble TRAIL present in RCM of H460 cells mobilized the nuclear translocation of PAR-4 (a proapoptotic protein). | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
94,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
105,
13
]
} |
rs2736098[A] may be an independent hereditary parameter in HCC, but some risk factors would cover up the association by more powerful hepatocarcinogenesis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
59,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
134,
20
]
} |
Mice bearing CHO/TNF tumors that were injected with PTHrP had significantly higher calcium concentrations, increased committed osteoclast progenitors, and mature osteoclasts as well as enhanced bone resorption compared with mice bearing CHO/TNF tumors injected with vehicle or those bearing CHO/- tumors injected with PTHrP or vehicle. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
241,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
194,
15
]
} |
This contrasts with the antideath functions ascribed to BAG family members and suggests a potential role for BAG5 in promoting neurodegeneration in sporadic PD through its functional interactions with parkin and Hsp70. | NA | {
"id": 3308,
"name": "HSPA4",
"pos": [
212,
5
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
127,
17
]
} |
Recently the RAR alpha gene has been demonstrated to be involved in a novel fusion transcript (PLZF/RAR alpha) through a t(11;17) translocation. | NA | {
"id": 10966,
"name": "RAB40B",
"pos": [
100,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
130,
13
]
} |
Consistently, we found that the interference of C6orf106 was able to inhibit cell proliferation and invasion of two triple-negative breast cancer cell lines, MDA-MB-231 and BT-549, accompanied by the decrease of cyclin A2, cyclin B1, c-myc, and N-cadherin and the increase of E-cadherin. | NA | {
"id": 890,
"name": "CCNA2",
"pos": [
212,
9
]
} | {
"id": "C3539878",
"name": "Triple Negative Breast Neoplasms",
"pos": [
116,
29
]
} |
Patients with a tumor presenting either alteration were selected for plasma screening; 58 tumors were analyzed for KRAS2 mutations and tested for p16 gene promoter methylation. | genomic_alterations | {
"id": 3265,
"name": "HRAS",
"pos": [
115,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
16,
5
]
} |
The identified mutations result in mild ciliary defects in patients but also reveal an unexpected role of IFT54 as a negative regulator of microtubule stability via MAP4 (microtubule-associated protein 4). | NA | {
"id": 4134,
"name": "MAP4",
"pos": [
171,
32
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
35,
4
]
} |
We evaluated the immunohistochemical expression of LPCAT1 in 80 primary breast carcinomas, 24 metastatic lymph nodes, and 30 non-neoplastic breast tissue specimens and statistically analyzed the association between LPCAT1 expression and clinicopathological variables and patients' outcome. | NA | {
"id": 79888,
"name": "LPCAT1",
"pos": [
215,
6
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
125,
14
]
} |
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism. | genomic_alterations | {
"id": 5300,
"name": "PIN1",
"pos": [
23,
4
]
} | {
"id": "C0342384",
"name": "Idiopathic hypogonadotropic hypogonadism",
"pos": [
44,
41
]
} |
In conclusion, CHFR is frequently inactivated in acute leukemia and is a good candidate for the leukemia supper gene. | NA | {
"id": 55743,
"name": "CHFR",
"pos": [
15,
4
]
} | {
"id": "C0085669",
"name": "Acute leukemia",
"pos": [
49,
14
]
} |
Recombinant human ciliary neurotrophic factor reduces weight partly by regulating nuclear respiratory factor 1 and mitochondrial transcription factor A. | NA | {
"id": 4899,
"name": "NRF1",
"pos": [
82,
28
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
54,
6
]
} |
Unexpectedly, we found that deleting exons 2-4 of Dyx1c1 in mice caused a phenotype resembling primary ciliary dyskinesia (PCD), a disorder characterized by chronic airway disease, laterality defects and male infertility. | NA | {
"id": 161582,
"name": "DNAAF4",
"pos": [
50,
6
]
} | {
"id": "C1720777",
"name": "Functional Laterality",
"pos": [
181,
10
]
} |
Glycoprotein V is a well characterized target antigen in Varicella-associated and drug-induced thrombocytopenia. | biomarker | {
"id": 2814,
"name": "GP5",
"pos": [
0,
14
]
} | {
"id": "C0040034",
"name": "Thrombocytopenia",
"pos": [
95,
16
]
} |
The aim of this study was to evaluate the association of prothrombotic gene polymorphisms [factor V Leiden (FVL) 1691GA, factor VII (FVII) 10976GA, FVII HVR4, platelet membrane glycoproteins GP1BA 1018CT, GP1BA VNTR, integrin ITGB3 1565TC, integrin ITGA2 807CT and methylenetetrahydrofolate reductase (MTHFR) 677C/T], plasma factors (fibrinogen and homocysteine) and traditional risk factors with acute myocardial infarction (AMI) in 184 patients ≤ 40 years of age and 350 controls (≤ 40 years) from north India. | NA | {
"id": 2811,
"name": "GP1BA",
"pos": [
205,
5
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
334,
10
]
} |
Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
213,
5
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
99,
12
]
} |
In metastatic prostate cancer models, RANKL inhibition directly prevents osteolysis via blockade of osteoclastogenesis and indirectly reduces progression of skeletal tumor burden by reducing local growth factor and calcium concentrations. | NA | {
"id": 8600,
"name": "TNFSF11",
"pos": [
38,
5
]
} | {
"id": "C0936223",
"name": "Metastatic Prostate Carcinoma",
"pos": [
3,
26
]
} |
In analyses of sex-specific albuminuria, IL1B (rs1143623) among Mexican Americans remained significantly associated with increased odds, while IL1B (rs1143623), CRP (rs1800947) and NOS3 (rs2070744) were significantly associated with ACR ≥ 30 mg/g in this population (additive models, FDR-P < 0.05). | NA | {
"id": 3553,
"name": "IL1B",
"pos": [
143,
4
]
} | {
"id": "C0001925",
"name": "Albuminuria",
"pos": [
28,
11
]
} |
Since oxidized low-density lipoproteins (oxLDL) collect in drusen of AMD and are a known complement trigger, we treated ARPE-19 cells with oxLDL and found that cellular CD46 and CD59 proteins were decreased by 2.9- and nine-fold (p < 0.01), respectively. | NA | {
"id": 4179,
"name": "CD46",
"pos": [
169,
4
]
} | {
"id": "C1260959",
"name": "Drusen",
"pos": [
59,
6
]
} |
MRI showed marked atrophy of the spinal cord in all patients and cerebellar atrophy in those with ataxia. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
0,
3
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
98,
6
]
} |
Upon reinfection, WT mice exhibited a transient local infection with evidence of regulatory T-cell (Treg)/Foxp3 mRNA and a more balanced Th1 and Th2 response in the genital tract than ICOS(-/-) mice, whereas 90% of the latter mice developed sterile immunity, poor expression of local Treg/Foxp3 mRNA, and macroscopic signs of enhanced local immunopathology. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
137,
3
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
241,
7
]
} |
In our practice, FDG PET-CT studies are frequently performed within days of transthoracic needle biopsy, often revealing presence of pneumothorax (PTX), a "critical finding" that should be reported expeditiously. | biomarker | {
"id": 23583,
"name": "SMUG1",
"pos": [
17,
3
]
} | {
"id": "C0032326",
"name": "Pneumothorax",
"pos": [
133,
12
]
} |
Intense neuronatin expression was also observed in several human pituitary adenomas, including ACTH-producing, GH-producing, and nonfunctioning adenomas, but hardly detected in other brain tumors. | NA | {
"id": 4826,
"name": "NNAT",
"pos": [
8,
10
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
183,
12
]
} |
A distinct MRD high-risk subgroup of IGH-V(D)J-germline ALL revealed frequent deletions of IKZF1 (n = 7/11) and the presence of genomic fusions (n = 10/11). | genomic_alterations | {
"id": 3492,
"name": "IGH",
"pos": [
37,
3
]
} | {
"id": "C0242596",
"name": "Neoplasm, Residual",
"pos": [
11,
3
]
} |
We investigated the role of functional polymorphisms in the TS 5'-UTR promoter enhancer region (TSER, 3 or 2 repeats of a 28-bp sequence) and the 3'-UTR (1494delTTAAAG) and their association with colon tumor characteristics, including tumor stage and acquired mutations in p53, Ki-ras and microsatellite instability. | NA | {
"id": 8170,
"name": "SLC14A2",
"pos": [
149,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
289,
26
]
} |
The secretion of IL-6 by BMSCs was completely inhibited by 10(-9) mol/L PACAP, which also attenuated the phosphorylation of both p42/44 and p38 mitogen-activated protein kinases (MAPK) as well as nuclear factor-kappaB (NF-kappaB) activation in response to the adhesion of multiple myeloma cells to BMSCs, whereas the inhibition of p42/44 MAPK signaling attenuated PACAP action. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
17,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
260,
8
]
} |
CD4(+)/Ki67(+) T cells; plasma LPS; total, naive, and activated Treg; TLR2-expressing and TLR4-expressing Treg; IL-10 production; and early and late apoptotic CD4 T cells, were significantly increased in patients with undetectable viremia and CD4 cell counts less than 500 cells/microl after more than 7 years of ART. | NA | {
"id": 7097,
"name": "TLR2",
"pos": [
70,
4
]
} | {
"id": "C0042749",
"name": "Viremia",
"pos": [
231,
7
]
} |
This case report might raise awareness, among clinicians, of the need to interpret NGS data in combination with muscle MRI patterns so as to facilitate the pinpointing of the main molecular etiology in inherited muscle disorders. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
119,
3
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
212,
16
]
} |
In all patients, prothrombin time, international normalized ratio, fibrinogen, antithrombin, protein C and S activity, von Willebrand factor antigen, ristocetin cofactor activity, D-dimer, coagulation factor VIII activity, and tissue factor pathway inhibitor were determined. | NA | {
"id": 5624,
"name": "PROC",
"pos": [
93,
9
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
67,
10
]
} |
This study reveals ZEB2 as an oncogene in the biology of immature/ETP-ALL and paves the way towards pre-clinical studies of novel compounds for the treatment of this aggressive subtype of human T-ALL using our Zeb2-driven mouse model. | biomarker | {
"id": 9839,
"name": "ZEB2",
"pos": [
210,
4
]
} | {
"id": "C4329780",
"name": "Early T Acute Lymphoblastic Leukemia",
"pos": [
66,
7
]
} |
Novel somatic mutations in the BRCA1 gene in sporadic breast tumors. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
31,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
45,
8
]
} |
We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). | NA | {
"id": 3991,
"name": "LIPE",
"pos": [
591,
4
]
} | {
"id": "C4316789",
"name": "Partial lipodystrophy",
"pos": [
284,
21
]
} |
Here, we address two related questions: (1) are some rare MRN variants intermediate-risk breast cancer susceptibility alleles, and if so (2) do the MRN genes follow a BRCA1/BRCA2 pattern wherein most susceptibility alleles are protein-truncating variants, or do they follow an ATM/CHEK2 pattern wherein half or more of the susceptibility alleles are missense substitutions? | genomic_alterations | {
"id": 472,
"name": "ATM",
"pos": [
277,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
89,
13
]
} |
CACNA1A mutated patients have an earlier age at onset, interictal nystagmus, and abnormalities of ocular movements. | NA | {
"id": 773,
"name": "CACNA1A",
"pos": [
0,
7
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
81,
13
]
} |
Male-to-female excess in diabetes diagnosed in early adulthood is not specific for the immune-mediated form nor is it HLA-DQ restricted: possible relation to increased body mass index. | NA | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
118,
6
]
} | {
"id": "C1305855",
"name": "Body mass index",
"pos": [
168,
15
]
} |
The Neuroprotective Effect of the HDAC2/3 Inhibitor MI192 on the Penumbra After Photothrombotic Stroke in the Mouse Brain. | genomic_alterations | {
"id": 3066,
"name": "HDAC2",
"pos": [
34,
5
]
} | {
"id": "C0038454",
"name": "Cerebrovascular accident",
"pos": [
96,
6
]
} |
Moreover, eIF5 (<i>p</i> = 0.002), eIF6 (<i>p</i> = 0.032) and eIF4g CS (<i>p</i> = 0.014) were significantly different when comparing NNT with EC grading types. | biomarker | {
"id": 1983,
"name": "EIF5",
"pos": [
10,
4
]
} | {
"id": "C0007103",
"name": "Malignant neoplasm of endometrium",
"pos": [
180,
2
]
} |
The aim of this study was to investigate if variations in the muscle genes myostatin (MSTN), its receptor (ACVR2B), myogenin (MYOG), and myoD1 (MYOD1) were associated with fracture risk, bone mineral density (BMD), bone mineral content (BMC), and lean body mass. | NA | {
"id": 4656,
"name": "MYOG",
"pos": [
126,
4
]
} | {
"id": "C0424678",
"name": "Lean body mass",
"pos": [
247,
14
]
} |
The exact function of calpain 10 remains to be determined, but it has been implicated both in glucose transporter 4 translocation to the cell membrane, regulation of pancreatic insulin secretion, and pancreatic beta-cell apoptosis. | NA | {
"id": 11132,
"name": "CAPN10",
"pos": [
22,
10
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
116,
13
]
} |
The coexistence of both 807 T and PlA2 alleles increased the arterial thrombosis risk in patients with APS and preclinical arteriosclerosis in patients with SLE. | genomic_alterations | {
"id": 5320,
"name": "PLA2G2A",
"pos": [
34,
4
]
} | {
"id": "C0085409",
"name": "Polyendocrinopathies, Autoimmune",
"pos": [
103,
3
]
} |
Gene polymorphisms at GSTM1, GSTT1, and GSTP1 in subjects with presbycusis were not significantly different than in the controls (p > 0.05). | NA | {
"id": 2952,
"name": "GSTT1",
"pos": [
29,
5
]
} | {
"id": "C0033074",
"name": "Presbycusis",
"pos": [
63,
11
]
} |
We found that Msi1 functions by negatively regulating the translation of its target mRNAs, p21 and Numb, whose protein levels are markedly increased in kidney fibrosis. | NA | {
"id": 1026,
"name": "CDKN1A",
"pos": [
91,
3
]
} | {
"id": "C0151650",
"name": "Renal fibrosis",
"pos": [
152,
15
]
} |
RNF146 expression correlated with tumor size, differentiation level, lymphatic metastasis, pTNM staging, and prognosis of patients in stage I. RNF146 expression was negatively correlated with Axin expression but positively correlated with the nuclear expression of β-catenin in NSCLC tissues. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
265,
9
]
} | {
"id": "C0024232",
"name": "Lymphatic Metastasis",
"pos": [
69,
20
]
} |
Stable expression of Testisin in the Testisin-negative Tera-2 testicular cancer line suppressed tumorigenicity as revealed by inhibition of both anchorage-dependent cell growth and tumour formation in an SCID mouse model of testicular tumorigenesis. | NA | {
"id": 10942,
"name": "PRSS21",
"pos": [
37,
8
]
} | {
"id": "C0855197",
"name": "Malignant Testicular Germ Cell Tumor",
"pos": [
62,
17
]
} |
Especially, the two genes (ADAM10 and CAMK2A) have been reported to be associated with Alzheimer's disease, bipolar disorder and depression. | genomic_alterations | {
"id": 815,
"name": "CAMK2A",
"pos": [
38,
6
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
87,
19
]
} |
], carcinoma associated with an inverted papilloma, sinonasal undifferentiated carcinoma [SNUC], adenocarcinoma, adenoid cystic carcinoma [ACC], esthesioneuroblastoma, and 9 corresponding lymph node metastases) were assessed by fluorescence in situ hybridization (FISH) for FGFR1 copy number status. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
264,
4
]
} | {
"id": "C1710096",
"name": "Sinonasal undifferentiated carcinoma",
"pos": [
52,
36
]
} |
The incomplete phenocopy of Gα13- and S1PR2 deficiency led us to discover that P2RY8, an orphan receptor that is mutated in GCB-DLBCL and another germinal centre B-cell-derived malignancy, Burkitt's lymphoma, also represses germinal centre B-cell growth and promotes confinement via Gα13. | genomic_alterations | {
"id": 286530,
"name": "P2RY8",
"pos": [
79,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
177,
10
]
} |
There was evidence of supermultiplicativity of the joint effect of GSTP1 I105V and CYP2E1 RsaI variants on both glioma and acoustic neuroma, even following adjustment of estimates toward a common prior distribution using hierarchical regression models. | NA | {
"id": 1571,
"name": "CYP2E1",
"pos": [
83,
6
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
234,
10
]
} |
Because of the regulatory role of IL-6 in tumor growth and its involvement in the pituitary, we decided to evaluate IL-6 and IL-6 receptor expression in pituitary tumors. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
116,
4
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
153,
16
]
} |
We report a 54-year-old woman with eosinophilic cellulitis whose peripheral blood showed a marked eosinophilia and a high proportion of CD4+CD7- cells before treatment. | NA | {
"id": 924,
"name": "CD7",
"pos": [
140,
3
]
} | {
"id": "C0343101",
"name": "Wells syndrome",
"pos": [
35,
23
]
} |
Deregulated minichromosomal maintenance protein MCM7 contributes to oncogene driven tumorigenesis. | NA | {
"id": 4176,
"name": "MCM7",
"pos": [
48,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
84,
13
]
} |
In vivo experiments on Non Obese Diabetic (NOD) mice demonstrated that FXR activation delays development of signs of diabetes, hyperglycemia and glycosuria, by enhancing insulin secretion and by stimulating glucose uptake by the liver. | biomarker | {
"id": 9971,
"name": "NR1H4",
"pos": [
71,
3
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
117,
8
]
} |
We defined 'mild' RER as mono- or tetranucleotide repeat instability in the absence of widespread instability at dinucleotide repeats and studied 15 colorectal tumors with this phenotype for mutations in the DNA mismatch repair genes MSH2, MLH1, MSH3, and MSH6. | NA | {
"id": 4437,
"name": "MSH3",
"pos": [
246,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
12,
4
]
} |
No significant association was found between the interleukin-10 gene -592C>A polymorphism and gastric cancer risk in total population analysis. | genomic_alterations | {
"id": 3586,
"name": "IL10",
"pos": [
49,
14
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
97,
14
]
} |
We demonstrate that telomere dysfunction induced by adenovirus-mediated expression of dominant-negative TRF2 (DN-TRF2) triggers a DNA damage response involving the formation of nuclear foci containing phosphorylated histone H2AX and activated ATM in each cell type. | NA | {
"id": 9519,
"name": "TBPL1",
"pos": [
113,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
52,
10
]
} |
Additionally, RAS/RAF/MEK/ERK pathway-targeted therapy may benefit selected patients with type II ovarian carcinoma harboring KRAS/MAPK1 amplifications. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
126,
4
]
} | {
"id": "C0029925",
"name": "Ovarian Carcinoma",
"pos": [
98,
17
]
} |
In a 14-year-old boy with polyposis and rectosigmoid carcinoma, we identified a novel POLE germline mutation, p.(Val411Leu), previously found as recurrent somatic mutation in 'ultramutated' sporadic cancers. | NA | {
"id": 5426,
"name": "POLE",
"pos": [
86,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
190,
8
]
} |
We generated a recombinant adenovirus (rAd) encoding secreted fusion protein, consisting of codon-optimized HA2 subunit of influenza A/California/7/2009(H1N1) virus fused to a trimerized form of murine CD40L, and determined its ability of inducing protective immunity upon intranasal administration. | NA | {
"id": 3882,
"name": "KRT32",
"pos": [
108,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
27,
10
]
} |
These studies suggest that the functional loss of CFTR impairs the handling of low-molecular-weight proteins by the kidney, supporting a role of CFTR in receptor-mediated endocytosis in proximal tubule cells. | NA | {
"id": 1080,
"name": "CFTR",
"pos": [
145,
4
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
93,
6
]
} |
Our data suggest that losartan offers similar short-term renoprotective and blood pressure lowering effects in albuminuric hypertensive type 1 diabetic patients with the ACE II and DD genotypes. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
170,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
76,
14
]
} |
We have identified a 17-miRNA signature of pituitary tumors formed in the background of hyperplasia (caused in half of the cases by PRKAR1A-mutations). | NA | {
"id": 5573,
"name": "PRKAR1A",
"pos": [
132,
7
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
43,
16
]
} |
To investigate the role of allelic imbalance in hepatocarcinogenesis, we have studied allelic expression status of the IGF II gene in dysplastic nodules, which are precancerous lesions of HCC, as well as in HCCs of different histological grade, and the influence of the allelic imbalance on IGF II gene expression has also been examined. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
188,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
48,
20
]
} |
Paroxysmal nonkinesigenic dyskinesia (PNKD) is characterized by attacks of dystonia or chorea lasting minutes to hours. | NA | {
"id": 25953,
"name": "PNKD",
"pos": [
38,
4
]
} | {
"id": "C0008489",
"name": "Chorea",
"pos": [
87,
6
]
} |
Serotonin receptor, SERT mRNA and correlations with symptoms in males with alcohol dependence and suicide. | NA | {
"id": 6532,
"name": "SLC6A4",
"pos": [
20,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
98,
7
]
} |
The association between preterm delivery and the CYP1A1-T6235C/I462V haplotype plus GSTM1 null type was verified. | NA | {
"id": 1543,
"name": "CYP1A1",
"pos": [
49,
6
]
} | {
"id": "C0151526",
"name": "Premature Birth",
"pos": [
24,
16
]
} |
The aim of the study is to define if an altered expression of HDAC9, TWIST1 and FERD3L genes could be involved in plaque vulnerability. | NA | {
"id": 7291,
"name": "TWIST1",
"pos": [
70,
6
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
115,
6
]
} |
Patients with advanced nonsquamous non-small-cell lung cancer (NSCLC) who either (1) had a new diagnosis and were planned for initial therapy or (2) had developed acquired resistance to an EGFR kinase inhibitor and were planned for rebiopsy underwent initial blood sampling and immediate plasma ddPCR for EGFR exon 19 del, L858R, T790M, and/or KRAS G12X between July 3, 2014, and June 30, 2015, at a National Cancer Institute-designated comprehensive cancer center. | genomic_alterations | {
"id": 3845,
"name": "KRAS",
"pos": [
344,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
451,
6
]
} |
Impact of a microRNA MIR137 susceptibility variant on brain function in people at high genetic risk of schizophrenia or bipolar disorder. | genomic_alterations | {
"id": 406928,
"name": "MIR137",
"pos": [
21,
6
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
103,
13
]
} |
<b>Conclusion</b>: ANA positivity is an independent predictor of favorable prognosis in SSc-patients with cancer, possibly suggesting that humoral autoimmunity in SSc with cancer may have some benefit. | biomarker | {
"id": 10950,
"name": "BTG3",
"pos": [
31,
3
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
159,
12
]
} |
Furthermore, GFAP positive cells in the peri-infarct area express Rhamm. | NA | {
"id": 2670,
"name": "GFAP",
"pos": [
13,
4
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
45,
7
]
} |
No hAR gene mutations or major changes in the CAG repeat were found in the 18 HR carcinomas or in the 9 control samples. | genomic_alterations | {
"id": 10894,
"name": "LYVE1",
"pos": [
3,
3
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
81,
10
]
} |
The incidence of aggressive B-cell lymphomas other than Burkitt lymphoma with a MYC breakpoint and in particular a double hit is difficult to assess, because screening by methods like FISH has not been applied on large, unselected series, and the published cytogenetic data may be biased to specific categories of lymphomas. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
184,
4
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
314,
9
]
} |
We employed a large-insert (7-11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
169,
4
]
} | {
"id": "C0037822",
"name": "Speech Disorders",
"pos": [
247,
16
]
} |
The ephrin A1-EphA2 system promotes cardiac stem cell migration after infarction. | NA | {
"id": 1969,
"name": "EPHA2",
"pos": [
14,
5
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
70,
10
]
} |
To gain insight into the mechanism(s) by which leptin contributes to mammary tumor (MT) development we investigated the effects of leptin, kinase inhibitors, and/or leptin receptor antagonists (LPrA2) on 4T1 mouse mammary cancer cells in vitro and LPrA2 on 4T1-MT development in vivo. | NA | {
"id": 3953,
"name": "LEPR",
"pos": [
165,
15
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
69,
13
]
} |
These molecules will be used in the development of pretargeting RIT strategies designed to improve the clinical outcome of patients with breast cancer. | NA | {
"id": 6016,
"name": "RIT1",
"pos": [
64,
3
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
137,
13
]
} |
Thyroid hormone negatively regulates the amyloid-beta precursor protein (APP) gene in thyroid hormone receptor (TR)-transfected neuroblastoma cells. | NA | {
"id": 3164,
"name": "NR4A1",
"pos": [
94,
16
]
} | {
"id": "C0027819",
"name": "Neuroblastoma",
"pos": [
128,
13
]
} |
Loss of Mig6 is a driving event in human cancer; analysis of 1,057 gliomas reveals frequent focal deletions of ERRFI1, the gene that encodes Mig6, in EGFR-amplified glioblastomas. | biomarker | {
"id": 54206,
"name": "ERRFI1",
"pos": [
8,
4
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
41,
6
]
} |
Prophylactic and therapeutic C-ter-J28+-DC-vaccinations reduced ectopic Panc02-tumor growth, provided long-lasting protection from Panc02-tumor development in 100% of micebut not from melanoma, and attenuated progression of orthotopic tumors as revealed by MRI. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
257,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
184,
8
]
} |
In the second step, it uses miR-126 to discriminate clear cell from papillary RCC (AUC: 1, <i>p</i> < 0.0001) and miR-200b to discriminate chromophobe RCC from oncocytoma (AUC: 0.95, 95% CI: 0.8933-1.021, <i>p</i> < 0.0001). | biomarker | {
"id": 406913,
"name": "MIR126",
"pos": [
28,
7
]
} | {
"id": "C1378050",
"name": "Oncocytic Neoplasm",
"pos": [
175,
10
]
} |
Hereditary cystathioninuria is due to mutations in the CTH gene that encodes for cystathionase, a pyridoxal-5'-phosphate (PLP) dependent enzyme. | NA | {
"id": 5354,
"name": "PLP1",
"pos": [
122,
3
]
} | {
"id": "C0220993",
"name": "Cystathioninuria",
"pos": [
11,
16
]
} |
SNCA 3'UTR genetic variants in patients with Parkinson's disease and REM sleep behavior disorder. | genomic_alterations | {
"id": 2837,
"name": "UTS2R",
"pos": [
7,
3
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
45,
19
]
} |
FLRG (follistatin-related gene), a new target of chromosomal rearrangement in malignant blood disorders. | NA | {
"id": 10272,
"name": "FSTL3",
"pos": [
6,
24
]
} | {
"id": "C0018939",
"name": "Hematological Disease",
"pos": [
88,
15
]
} |
The percentages of Th17 cells as well as the plasma concentrations of IL-17 and IL-22 tended to increase with the severity of the disease, while the IL-25 level was elevated in mild patients. | NA | {
"id": 53342,
"name": "IL17D",
"pos": [
80,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
177,
4
]
} |
Additionally, several tumors, including breast cancer, highly express MED28. | NA | {
"id": 80306,
"name": "MED28",
"pos": [
70,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
22,
6
]
} |
To further determine whether EC-expressed TNFR2 is sufficient to mediate ischemia-induced angiogenesis, we crossed TNFR2-TG with TNFR2-deficient mice to generate TNFR2-knockout (KO)/TG mice, in which only vascular ECs express TNFR2. | NA | {
"id": 7133,
"name": "TNFRSF1B",
"pos": [
226,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
73,
8
]
} |
In hypoxic group, the expression of fractalkine mRNA in the lung was significantly up-regulated [(0.49 +/- 0.05) vs (0.29 +/- 0.02), P < 0.01], the expression level of fractalkine in lung tissue was higher than that in control group [(7622.6 +/- 938.4) pg/mL vs (4168.5 +/- 403.5) pg/mL, P < 0.01. | NA | {
"id": 6376,
"name": "CX3CL1",
"pos": [
168,
11
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
3,
7
]
} |
In group 1, the methylation index for the H19-DMR was positively correlated with birth length and weight, present height and weight, and placental weight, but with neither birth nor present OFC. | NA | {
"id": 91833,
"name": "WDR20",
"pos": [
46,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
147,
6
]
} |
One of the most frequent OXPHOS defects in humans frequently associated with cardiomyopathy is cytochrome c oxidase (COX) deficiency caused by mutations in COX assembly factors such as Sco1 and Sco2. | genomic_alterations | {
"id": 9997,
"name": "SCO2",
"pos": [
194,
4
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
77,
14
]
} |
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. | NA | {
"id": 1106,
"name": "CHD2",
"pos": [
38,
4
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
51,
5
]
} |
The aim of this work was to: (i) establish if the DCD gene confers resistance of prostate cancer cells to hypoxia and oxidative stress; (ii) identify the component of the gene transcript responsible for this effect. | NA | {
"id": 117159,
"name": "DCD",
"pos": [
50,
8
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
106,
7
]
} |
However, PARP overactivation through oxidative stress can lead to necrosis. | NA | {
"id": 142,
"name": "PARP1",
"pos": [
9,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
66,
8
]
} |
Concurrent with regression, mRNA levels of the gene encoding LXRalpha are increased in plaque CD68+ cells, suggestive of a functional relationship between LXR and CCR7. | NA | {
"id": 968,
"name": "CD68",
"pos": [
94,
4
]
} | {
"id": "C1836830",
"name": "Developmental regression",
"pos": [
16,
10
]
} |
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