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dict |
|---|---|---|---|
This work would provide fresh ideas and strong supports for further development of ASM inhibitors and drug candidates for skin damage. | biomarker | {
"id": 6609,
"name": "SMPD1",
"pos": [
83,
3
]
} | {
"id": "C0849640",
"name": "skin damage",
"pos": [
122,
11
]
} |
PPH3 and Ki67 counts can be easier to perform than MAI and therefore helpful in the diagnosis of ESS, Low Grade. | biomarker | {
"id": 5531,
"name": "PPP4C",
"pos": [
0,
4
]
} | {
"id": "C0206630",
"name": "Endometrial Stromal Sarcoma",
"pos": [
97,
3
]
} |
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. | NA | {
"id": 34,
"name": "ACADM",
"pos": [
32,
35
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
279,
12
]
} |
TGF-beta1 and CD105 in 55 gastric carcinoma tissues on the same slide were detected by using double-stain Immunohistochemistry (DS-ABC). | NA | {
"id": 2022,
"name": "ENG",
"pos": [
14,
5
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
26,
17
]
} |
Although the majority of ALS cases are sporadic, 10% are familial, of which 20%-25% result from mutations in the superoxide dismutase (SOD1) gene. | NA | {
"id": 6647,
"name": "SOD1",
"pos": [
135,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
39,
8
]
} |
In the current study, we demonstrated that GKLF mRNA levels were significantly decreased in the dysplastic epithelium of the colon, including adenomatous polyp and cancer. | NA | {
"id": 9314,
"name": "KLF4",
"pos": [
43,
4
]
} | {
"id": "C0206677",
"name": "Adenomatous Polyps",
"pos": [
142,
17
]
} |
Our results suggest that FABP2, IPF1, FABP1, ROS1, ADIPOQ, ALOX5AP, NOS3, and LGALS2 are susceptibility loci for atherothrombotic cerebral infarction among Japanese individuals with metabolic syndrome. | genomic_alterations | {
"id": 6098,
"name": "ROS1",
"pos": [
45,
4
]
} | {
"id": "C0007785",
"name": "Cerebral Infarction",
"pos": [
130,
19
]
} |
The CRP-induced expression of these inflammatory adhesion molecules was completely suppressed when the cells were preincubated with a physiological concentration (1 mg/mL apolipoprotein A-I) of HDLs derived from human plasma (native HDL) or reconstituted HDL (rHDL) at a very low concentration (0.01 mg/mL apolipoprotein A-I). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
4,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
49,
8
]
} |
We found that GSK-3β undergoes site-specific SNO both in vitro, in HEK293 cells, H9C2 myoblasts, and primary neonatal rat ventricular myocytes, as well as in vivo, in hearts from an animal model of heart failure and sudden cardiac death. | biomarker | {
"id": 2932,
"name": "GSK3B",
"pos": [
14,
6
]
} | {
"id": "C0018802",
"name": "Congestive heart failure",
"pos": [
198,
13
]
} |
We performed immunohistochemical tests for the presence of S403-phos-p62 in postmortem brain of neurodegenerative disease cases, and found accumulations in amyotrophic lateral sclerosis and Alzheimer's disease tissues. | biomarker | {
"id": 2965,
"name": "GTF2H1",
"pos": [
59,
13
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
96,
25
]
} |
In the CNS, hypoxia/ischemia up-regulate sulfonylurea receptor 1 (SUR1)-regulated NCCa-ATP channels in microvascular endothelium, with channel activation by depletion of ATP being responsible for progressive secondary hemorrhage. | NA | {
"id": 6833,
"name": "ABCC8",
"pos": [
66,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
20,
8
]
} |
On an insulin tolerance test, insulin sensitivity was decreased in Mig-6(d/d) versus Mig-6(f/f) mice. | NA | {
"id": 54206,
"name": "ERRFI1",
"pos": [
67,
5
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
30,
19
]
} |
The plasma factor VIII concentration after the infusion of desmopressin in the son does not rise, whereas the mother and daughter have half of the normal factor VIII response, similar to asymptomatic female carriers of NDI. | NA | {
"id": 2157,
"name": "F8",
"pos": [
154,
11
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
187,
12
]
} |
Together, these results identify YAP and TAZ as mechanoactivated coordinators of the matrix-driven feedback loop that amplifies and sustains fibrosis. | NA | {
"id": 6901,
"name": "TAZ",
"pos": [
41,
3
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
141,
8
]
} |
We excluded all the known SCA loci by mutational and linkage analyses is an American family of British origin with ADA and document that an additional ataxia locus must exist. | NA | {
"id": 100,
"name": "ADA",
"pos": [
116,
3
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
152,
6
]
} |
Taken together, these findings imply that bcl2 protooncogene expression is differentially regulated within the various lineages of cells that give rise to the nervous system. | NA | {
"id": 596,
"name": "BCL2",
"pos": [
42,
4
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
159,
14
]
} |
This unique cytogenetic abnormality involves the loss of INO80, an adenosine triphosphatase (ATPase) with DNA binding ability. | NA | {
"id": 54617,
"name": "INO80",
"pos": [
57,
5
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
12,
23
]
} |
Glucagon antagonized verapamil-induced hypotension and bradycardia in rats; however, glucagon's ability to antagonize other CCBs is unexplored. | therapeutic | {
"id": 2641,
"name": "GCG",
"pos": [
0,
8
]
} | {
"id": "C0428977",
"name": "Bradycardia",
"pos": [
55,
11
]
} |
We report on a patient with severe microcephaly, a developmental delay, hypospadias, and corneal opacity who had a microdeletion spanning the Down syndrome critical region, including DYRK1A and SIM2. | NA | {
"id": 6493,
"name": "SIM2",
"pos": [
194,
4
]
} | {
"id": "C0010038",
"name": "Corneal Opacity",
"pos": [
89,
15
]
} |
Reduced memory in fat mass and obesity-associated allele carriers among older adults with cardiovascular disease. | genomic_alterations | {
"id": 79068,
"name": "FTO",
"pos": [
18,
31
]
} | {
"id": "C0007222",
"name": "Cardiovascular Diseases",
"pos": [
90,
22
]
} |
Recently, LATS2, a new human homologue of the Drosophila tumor suppressor gene (lats/warts) was identified on 13q11-12. | NA | {
"id": 26524,
"name": "LATS2",
"pos": [
10,
5
]
} | {
"id": "C3665596",
"name": "Warts",
"pos": [
85,
5
]
} |
We measured infarct size, hemodynamics and the plasma levels and the mRNA expression of TNF-alpha and IL-10 in the three groups. | NA | {
"id": 3586,
"name": "IL10",
"pos": [
102,
5
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
12,
7
]
} |
Consequently, TNF-alpha, through activation of p38 MAPK and IKK, produces serine phosphorylation of IR and IRS-1, impairing its tyrosine phosphorylation by insulin and the corresponding activation of phosphatidylinositol 3-kinase and Akt, leading to insulin resistance on glucose uptake and GLUT4 translocation. | NA | {
"id": 6517,
"name": "SLC2A4",
"pos": [
291,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
297,
13
]
} |
A total of 147 children (24 cystitis, 45 APN, 48 ALN, and 30 urosepsis) were enrolled in the study. | NA | {
"id": 401152,
"name": "C4orf3",
"pos": [
49,
3
]
} | {
"id": "C0149801",
"name": "Sepsis due to urinary tract infection",
"pos": [
61,
9
]
} |
Certain immunophenotypes (low CD11b, high HLA-Dr, CD34, CD13 and CD45), clonal granulocytes, multiple chromosomal abnormalities, chromosomal instability, short telomeres and high telomerase activity were also reported as PPF. | NA | {
"id": 947,
"name": "CD34",
"pos": [
50,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
114,
26
]
} |
The purpose of this study was to examine the hypoxic regulation of the PKR-like endoplasmic reticulum kinase (PERK)/activating transcription factor-4 (ATF4)/lysosome-associated membrane protein 3 (LAMP3)-arm of the unfolded protein response (UPR) in head and neck squamous cell carcinoma (HNSCC). | NA | {
"id": 5610,
"name": "EIF2AK2",
"pos": [
71,
3
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
45,
7
]
} |
Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma. | NA | {
"id": 5979,
"name": "RET",
"pos": [
12,
18
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
90,
8
]
} |
Androgen receptor mutants detected in recurrent prostate cancer exhibit diverse functional characteristics. | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
0,
17
]
} | {
"id": "C0278838",
"name": "Prostate cancer recurrent",
"pos": [
38,
25
]
} |
Secondary objectives between the hyponatremic versus nonhyponatremic groups included demographic comparisons, median serum sodium concentrations, SMX/TMP cumulative dose, number of diuretics, and other medications causing hyponatremia. | biomarker | {
"id": 2012,
"name": "EMP1",
"pos": [
150,
3
]
} | {
"id": "C0020625",
"name": "Hyponatremia",
"pos": [
222,
12
]
} |
Our studies showed that PFKFB4 mRNA expression in PC-3, HeLa, Hep3B and HepG2 cell lines was highly responsive to dimethyloxalylglycine, an inhibitor of HIF-1alpha hydroxylase enzymes, suggesting that the hypoxia responsiveness of this gene is regulated by HIF proteins. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
153,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
205,
7
]
} |
An Ask1-MKK4-p38MAPK/JNK pathway reflects adipocyte stress associated with adipose tissue inflammation, linking visceral adiposity to whole-body insulin resistance in obesity. | NA | {
"id": 4217,
"name": "MAP3K5",
"pos": [
3,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
145,
18
]
} |
To assess genetic factors of disease severity, we selected two HCV patient groups according to the following stringent criteria: (i) asymptomatic carrier state (ASC) defined by HCV infection for more than 20 years, normal alanine aminotransferase levels for the past 5 years as well as normal liver histology and/or shape and (ii) liver cirrhosis (LC) as diagnosed by clinical symptoms, liver biopsy and/or ultrasonography. | NA | {
"id": 29108,
"name": "PYCARD",
"pos": [
161,
3
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
133,
12
]
} |
Parallel investigations using pulse field gel electrophoresis have identified constitutional deletions representing 'first-hit' mutations at 16p13.3, leading to the rapid identification of one of the causative genes, TSC2. | NA | {
"id": 7249,
"name": "TSC2",
"pos": [
217,
4
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
123,
3
]
} |
Our data indicate that although DPC4 is altered infrequently in HNSCC, it may play some role in the tumorigenesis of a small subset of HNSCCs. | NA | {
"id": 4089,
"name": "SMAD4",
"pos": [
32,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
100,
13
]
} |
We hypothesize that IL-6-modifying drugs may reduce skeletal defects and prevent the growth retardation associated with these diseases. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
20,
4
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
85,
18
]
} |
The HO-1, HO-2 and the catalase levels significantly correlated with proteinuria, and the HO-2 level with systolic blood pressure. | NA | {
"id": 3163,
"name": "HMOX2",
"pos": [
90,
4
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
106,
23
]
} |
This type of sequence motif is often targeted by HuR, another important RBP known to be highly expressed in tumor tissue such as glioblastoma and to regulate a variety of cancer-related genes. | NA | {
"id": 5973,
"name": "RENBP",
"pos": [
72,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
129,
12
]
} |
In this case-control study, we investigated the possible association of two novel candidate genes, CER1 and TOB1, with bone mineral density (BMD) and fragility risk in 300 postmenopausal women of Hellenic origin. | NA | {
"id": 10140,
"name": "TOB1",
"pos": [
108,
4
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
119,
20
]
} |
Loss of PKP1 expression in human skin leads to skin erosions and crusting, notably with perioral fissuring as well as palmoplantar hyperkeratosis with painful cracking of the skin. | NA | {
"id": 5317,
"name": "PKP1",
"pos": [
8,
4
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
151,
7
]
} |
Our findings reveal that SLCO1B1 and ABCB1 genetic variants are associated with statin-induced myopathy. | genomic_alterations | {
"id": 10599,
"name": "SLCO1B1",
"pos": [
25,
7
]
} | {
"id": "C0026848",
"name": "Myopathy",
"pos": [
95,
8
]
} |
The HIF-1α/CXCR4 pathway supports hypoxia-induced metastasis of human osteosarcoma cells. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
4,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
34,
7
]
} |
Association between serotonin transporter gene polymorphisms and childhood asthma. | NA | {
"id": 6532,
"name": "SLC6A4",
"pos": [
20,
21
]
} | {
"id": "C0264408",
"name": "Childhood asthma",
"pos": [
65,
16
]
} |
The aim of this study was to assess if the presence of symptomatic bacterial vaginosis amplifies the risk of spontaneous preterm birth in those with a "susceptible" TNF genotype. | NA | {
"id": 7124,
"name": "TNF",
"pos": [
165,
3
]
} | {
"id": "C3827961",
"name": "Spontaneous Preterm Birth",
"pos": [
109,
25
]
} |
On univariate analysis, factors associated with SVR were interleukin 28B (IL28B) polymorphism, age, hepatitis C virus (HCV) genotype, HCV viral load, white blood cell count, stage of fibrosis and H63D mutation. | NA | {
"id": 282617,
"name": "IFNL3",
"pos": [
74,
5
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
183,
8
]
} |
Because modest nuclear enlargement of kidney tubule cells can occur as physiological or functional responses, it is recommended that the threshold for diagnosing renal tubule karyomegaly in animal studies should be accepted as at least four times normal nuclear size or larger.Abbreviations: BEN: Balkan Endemic Nephropathy; DMN: dimethylnitrosamine; GLP: Good Laboratory Practice; KIN: karyomegalic interstitial nephritis; LAL: lysinoalanine; MeCCNU: 1-(2-chloroethyl)-3-(trans-4-methylcyclohexyl)-1-nitrosourea; NTP: National Toxicology Program; OSOM: outer stripe of outer medulla; OTA: ochratoxin A; RTT: renal tubule tumor. | biomarker | {
"id": 23336,
"name": "SYNM",
"pos": [
325,
3
]
} | {
"id": "C3553774",
"name": "INTERSTITIAL NEPHRITIS, KARYOMEGALIC",
"pos": [
387,
35
]
} |
Thus, RA induces both N-myc-dependent and -independent mechanisms to minimize the degradation of p27 and arrest NB cell growth. | biomarker | {
"id": 10671,
"name": "DCTN6",
"pos": [
97,
3
]
} | {
"id": "C4086165",
"name": "Childhood Neuroblastoma",
"pos": [
112,
2
]
} |
The Lu/BCAM adhesion glycoproteins were first identified as laminin-10/11 erythroid receptors involved in RBC adhesion to endothelium in sickle cell anemia. | NA | {
"id": 4059,
"name": "BCAM",
"pos": [
7,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
110,
8
]
} |
T-cadherin is a glycosyl phosphatidylinositol-anchored member of the cadherin superfamily of adhesion molecules. | NA | {
"id": 1012,
"name": "CDH13",
"pos": [
0,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
93,
8
]
} |
Metavinculin is an alternatively spliced isoform of vinculin that has a 68-residue insert in its tail domain (1134 total residues) and is exclusively expressed in cardiac and smooth muscle tissue, where it plays important roles in myocyte adhesion complexes. | NA | {
"id": 7414,
"name": "VCL",
"pos": [
0,
12
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
239,
8
]
} |
The Cancer Genome Atlas described four major genomic groups of endometrial carcinomas, including a POLE ultramutated subtype comprising ∼10% of endometrioid adenocarcinoma, characterized by POLE exonuclease domain mutations, ultrahigh somatic mutation rates, and favorable outcome. | genomic_alterations | {
"id": 5426,
"name": "POLE",
"pos": [
99,
4
]
} | {
"id": "C1569637",
"name": "Adenocarcinoma, Endometrioid",
"pos": [
144,
27
]
} |
In addition to more severe liver fibrosis and tumorigenesis after DEN plus CCl4 treatment, hepatocyte-specific gankyrin-overexpressing mice (gankyrinhep) exhibited malignant transformation from liver fibrosis to tumors even under single CCl4 administration, whereas wild-type mice merely experienced fibrosis. | NA | {
"id": 6351,
"name": "CCL4",
"pos": [
237,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
46,
13
]
} |
Significant difference in COMT Val(108/158) Met variants' (genotypes, alleles and Val carriers) distribution was found only in male groups, between controls and suicide victims (P = 0.018, P = 0.031, P = 0.005), and between controls and violent suicide victims (P = 0.026, P = 0.042, P = 0.010). | NA | {
"id": 1312,
"name": "COMT",
"pos": [
26,
4
]
} | {
"id": "C0038661",
"name": "Suicide",
"pos": [
245,
7
]
} |
In 20 patients with sporadic medullary thyroid carcinoma (MTC), immuno-histochemistry was used to localize the expression of the c-Myc oncoprotein, transforming growth factor alpha (TGF-alpha) and epidermal growth factor receptor (EGFR) and these three markers were analysed regarding their relation to histopathological and histochemical variables of the tumours. | NA | {
"id": 4609,
"name": "MYC",
"pos": [
129,
5
]
} | {
"id": "C0238462",
"name": "Medullary carcinoma of thyroid",
"pos": [
29,
27
]
} |
We collected clinical data concerning liver and kidney status, such as iron, ferritin, albumin, creatinine, gamma GGT, GOT, proteinuria, %prothrombin, and Bilirubin. | NA | {
"id": 2678,
"name": "GGT1",
"pos": [
114,
3
]
} | {
"id": "C0033687",
"name": "Proteinuria",
"pos": [
124,
11
]
} |
Thus, we set out to determine whether resveratrol-mediated estrogen receptor-dependent p38 mitogen-activated protein kinase (MAPK)/heme oxygenase 1 activation protects the intestine after trauma-hemorrhage. | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
131,
16
]
} | {
"id": "C0019080",
"name": "Hemorrhage",
"pos": [
195,
10
]
} |
The gain in MT-3 expression when cells were grown as heterotransplants was also shown to occur for the MCF-7, T-47D, Hs 578t, MDA-MB-231 breast cancer, and the PC-3 prostate cancer cell lines. | NA | {
"id": 692094,
"name": "MSMP",
"pos": [
160,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
137,
13
]
} |
We examined 29 patients diagnosed with sporadic HSCR, 20 patients with IND, and 12 patients with mixed HSCR/IND for mutations in the coding regions of the RET, GDNF, EDNRB, and EDN3 genes. | NA | {
"id": 2668,
"name": "GDNF",
"pos": [
160,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
39,
8
]
} |
Previously, we have demonstrated that PC-2 is caused by mutations in K17 and that similar mutations in this gene can present as steatocystoma multiplex with little or no nail dystrophy. | NA | {
"id": 5311,
"name": "PKD2",
"pos": [
38,
4
]
} | {
"id": "C0221260",
"name": "Dystrophia unguium",
"pos": [
170,
14
]
} |
Serum miR-122 levels were correlated with BMI (r=0.469), alanine aminotransferase (r=0.634), triglycerides (r=0.448), HDL-cholesterol (r=-0.351) and homeostasis model assessment of insulin resistance (r=0.401, all P<0.01). | NA | {
"id": 406906,
"name": "MIR122",
"pos": [
6,
7
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
181,
18
]
} |
As GLUT-1 was induced via Hif-1alpha under hypoxia in A204 RMS and A673 ES, these findings suggest that the Hif-1alpha-mediated increase in glucose uptake plays an important role in conferring apoptosis resistance. | biomarker | {
"id": 6513,
"name": "SLC2A1",
"pos": [
3,
6
]
} | {
"id": "C0279550",
"name": "Adult Rhabdomyosarcoma",
"pos": [
59,
3
]
} |
Recent identification, at 18q21.1, of MADR2/Smad2, a key component in transforming growth factor beta (TGFbeta)-family signaling pathways, led us to investigate the role of this gene in prostate tumorigenesis. | NA | {
"id": 4087,
"name": "SMAD2",
"pos": [
44,
5
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
195,
13
]
} |
We describe an Indian patient who presented to clinic for the treatment of gastric adenocarcinoma with 5-flurouracil (5-FU) therapy who subsequently was diagnosed with DPD deficiency by using the peripheral blood mononuclear cell (PBMC) DPD radioassay. | NA | {
"id": 1806,
"name": "DPYD",
"pos": [
237,
3
]
} | {
"id": "C0278701",
"name": "Gastric Adenocarcinoma",
"pos": [
75,
22
]
} |
Patients with HHT exhibit immunological abnormalities including T CD4, T CD8 and NK cell lymphopenia and increased levels of immunoglobulins G and A. | NA | {
"id": 920,
"name": "CD4",
"pos": [
66,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
40,
13
]
} |
In the gene-gene interaction analysis, we found that IL-9/IL-9R genotype rs31563 GG/rs3093467 TT conveyed a greater risk for AD phenotype development. | genomic_alterations | {
"id": 3581,
"name": "IL9R",
"pos": [
58,
5
]
} | {
"id": "C0002395",
"name": "Alzheimer's Disease",
"pos": [
125,
2
]
} |
The aspirated material was used for cytological analysis and RNA extraction to assess the expression pattern of MUCs by reverse transcription-PCR with primers specific for the MUC1, MUC2, MUC3, MUC4, MUC5A, MUC5B, MUC6, and MUC7 genes. | NA | {
"id": 4588,
"name": "MUC6",
"pos": [
214,
4
]
} | {
"id": "C0700198",
"name": "Pulmonary aspiration",
"pos": [
4,
9
]
} |
We examined PLC activation in right and left atrial appendage from patients with mitral valve disease (VHD) and in a mouse model of dilated cardiomyopathy caused by transgenic overexpression of the stress-activated protein kinase, mammalian sterile 20 like kinase 1 (Mst1) (Mst1-TG). | NA | {
"id": 3339,
"name": "HSPG2",
"pos": [
12,
3
]
} | {
"id": "C0878544",
"name": "Cardiomyopathies",
"pos": [
140,
14
]
} |
Using endoglin haploinsufficient mice (Eng(+/-)) we show that reduced endoglin activity preserves RV function, limits RV fibrosis, and attenuates activation of the calcineurin/TRPC-6/α-SMA pathway in a model of angio-obliterative pulmonary hypertension. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
6,
8
]
} | {
"id": "C0016059",
"name": "Fibrosis",
"pos": [
121,
8
]
} |
In cancer cells infected with Ad5WS1, an E1B55K-deleted adenovirus driven by the E1 promoter, E1A enhanced YB-1 expression, and then further phosphorylated Akt, which, in turn, triggered nuclear translocation of YB-1. | NA | {
"id": 4904,
"name": "YBX1",
"pos": [
212,
4
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
56,
10
]
} |
Expression of HtrA1 was investigated in 16 clinically healthy gingiva, 16 gingivitis, 14 generalized chronic periodontitis and 10 generalized aggressive periodontitis by immunohistochemistry and real-time PCR. | NA | {
"id": 5654,
"name": "HTRA1",
"pos": [
14,
5
]
} | {
"id": "C1719498",
"name": "Generalized chronic periodontitis",
"pos": [
89,
33
]
} |
Phase I trial of m-BACOD and granulocyte macrophage colony stimulating factor in HIV-associated non-Hodgkin's lymphoma. | therapeutic | {
"id": 1437,
"name": "CSF2",
"pos": [
29,
48
]
} | {
"id": "C0024306",
"name": "Lymphoma, Undifferentiated",
"pos": [
96,
22
]
} |
The orphan GPCR, GPR88, modulates function of the striatal dopamine system: a possible therapeutic target for psychiatric disorders? | biomarker | {
"id": 117196,
"name": "MRGPRX4",
"pos": [
11,
4
]
} | {
"id": "C0004936",
"name": "Mental disorders",
"pos": [
110,
21
]
} |
In this study, the effects of inhibiting Monopolar spindle 1, MPS1 (TTK), an essential SAC kinase, on the radiosensitization of glioblastoma (GBM) cells were analyzed. | NA | {
"id": 55811,
"name": "ADCY10",
"pos": [
87,
3
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
128,
12
]
} |
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
31,
3
]
} | {
"id": "C3714756",
"name": "Intellectual Disability",
"pos": [
55,
23
]
} |
Both SMC and white matter disease were common. | NA | {
"id": 54808,
"name": "DYM",
"pos": [
5,
3
]
} | {
"id": "C0270612",
"name": "Leukoencephalopathy",
"pos": [
13,
20
]
} |
Cyclin M, an orphan cyclin, is the product of FAM58A, whose mutations cause STAR syndrome, a human developmental anomaly whose features include toe syndactyly, telecanthus, and anogenital and renal malformations. | NA | {
"id": 92002,
"name": "CCNQ",
"pos": [
46,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
198,
13
]
} |
The ATP6V1B2 rs1106634 A allele had a significant effect on lifetime but not on current depression. | genomic_alterations | {
"id": 526,
"name": "ATP6V1B2",
"pos": [
4,
8
]
} | {
"id": "C0011581",
"name": "Depressive disorder",
"pos": [
88,
10
]
} |
This ligand-to-targetto DNA sequence variant-to disease approach provided guidance on rational design of preclinical studies and identified associations between: 1) valproic acid and advanced AMD-associated genes with the capacity to alter GABA-succinate signaling (ALDH5A1, CACNA1C, SUCLA2, and GABBR2) and chromatin remodeling (HDAC9); and 2) Ropinirole and a geographic atrophy-associated gene (DRD3) with the capacity to alter systems involved in cAMP-PKA signaling. | NA | {
"id": 8803,
"name": "SUCLA2",
"pos": [
284,
6
]
} | {
"id": "C1536085",
"name": "Geographic Atrophy",
"pos": [
362,
18
]
} |
Here, we employed CD11b knockout mice and an Apc(Min/+) spontaneous intestinal adenoma mouse model to clarify the function of CD11b in intestinal tumorigenesis. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
126,
5
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
79,
7
]
} |
The SARF-MV rate was 15.8%.The multivariate analysis identified brain tumour (OR 14.54; 95%CI 3.86-54.77; p<0.0001), stage IV cancer (OR 3.47; 95%CI 1.26-9.54; p=0.016), sepsis upon admission (OR 2.28; 95%CI 1.14-4.56; p=0.020) and an APACHE II score≥20 points (OR 5.38; 95%CI 1.92-15.05; p=0.001) as being independently associated to SARF-MV. | genomic_alterations | {
"id": 284697,
"name": "BTBD8",
"pos": [
238,
6
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
64,
12
]
} |
Our results in a Chinese population suggest that the TT genotype and T alleles in rs36071027 in the EBF1 gene are associated with an increased risk of CAD and its severity. | genomic_alterations | {
"id": 1879,
"name": "EBF1",
"pos": [
100,
4
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
151,
3
]
} |
Inactivation of DNA mismatch repair (MMR) genes is involved in carcinogenesis of sporadic and inherited human cancers. | NA | {
"id": 4360,
"name": "MRC1",
"pos": [
37,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
81,
8
]
} |
However, silencing beta-catenin in these hypoxic cells reversed epithelial-mesenchymal transition and repressed metastatic potential. | NA | {
"id": 1499,
"name": "CTNNB1",
"pos": [
19,
12
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
41,
7
]
} |
Acute promyelocytic leukaemia (APL) associated with a t(15;17) translocation generates a PML/RAR alpha chimaeric gene which is transcribed as a fusion PML/RAR alpha mRNA. | NA | {
"id": 10966,
"name": "RAB40B",
"pos": [
155,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
63,
13
]
} |
Neuropeptide Y(1) Receptor NPY1R discovery of naturally occurring human genetic variants governing gene expression in cella as well as pleiotropic effects on autonomic activity and blood pressure in vivo. | NA | {
"id": 4886,
"name": "NPY1R",
"pos": [
27,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
181,
14
]
} |
Suppression of Rac1 also induced apoptosis in 19 of 21 short-term cultures of human primary cells from grades II and III oligodendroglioma and grade IV glioblastoma that varied in p53, epidermal growth factor receptor, epidermal growth factor receptor vIII, MDM2, and p16/p19 mutational or amplification status. | biomarker | {
"id": 5879,
"name": "RAC1",
"pos": [
15,
4
]
} | {
"id": "C0028945",
"name": "oligodendroglioma",
"pos": [
121,
17
]
} |
Twenty-five cases of metastatic embryonal carcinoma after chemotherapy were immunohistochemically analyzed for CD30, OCT4, and cytokeratin AE1/AE3 expression. | NA | {
"id": 6521,
"name": "SLC4A1",
"pos": [
139,
3
]
} | {
"id": "C0206659",
"name": "Embryonal Carcinoma",
"pos": [
32,
19
]
} |
Proteomic characterization identified that mutant XPO1 altered the nucleocytoplasmic distribution of hundreds of proteins in a sequence-specific manner that promoted oncogenesis. | genomic_alterations | {
"id": 7514,
"name": "XPO1",
"pos": [
50,
4
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
166,
11
]
} |
Romidepsin alone or in combination with anti-CD20 chimeric antigen receptor expanded natural killer cells targeting Burkitt lymphoma <i>in vitro</i> and in immunodeficient mice. | biomarker | {
"id": 54474,
"name": "KRT20",
"pos": [
45,
4
]
} | {
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
168,
15
]
} |
Furthermore, in tandem SH2 and γSA constructs, molecular dynamics and NMR results show that the Arg687Trp mutant in PLCγ1 (equivalent to the cancer mutation Arg665Trp in PLCγ2) perturbs the dynamic allosteric pathway. | genomic_alterations | {
"id": 5336,
"name": "PLCG2",
"pos": [
170,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
141,
6
]
} |
Focus groups were conducted post treatment for older adults (M age = 75 years; 61% female) who participated in a RCT that tested two experiential interventions targeting comorbid insomnia and depression (cognitive behaviour therapy for insomnia, CBT-I; cognitive behaviour therapy for insomnia plus positive mood strategies, CBT-I+). | biomarker | {
"id": 6392,
"name": "SDHD",
"pos": [
246,
5
]
} | {
"id": "C0011570",
"name": "Mental Depression",
"pos": [
192,
10
]
} |
In the current study we investigated whether deficiency of the CD137/CD137L pathway affects the development of allergic airway inflammation or the opposite immune reaction of respiratory tolerance. | NA | {
"id": 8744,
"name": "TNFSF9",
"pos": [
69,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
127,
12
]
} |
Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
19,
10
]
} | {
"id": "C1527405",
"name": "Erythrocytosis",
"pos": [
54,
14
]
} |
Deletion analysis at the DEL-27, APC and MTS1 loci in bladder cancer: LOH at the DEL-27 locus on 5p13-12 is a prognostic marker of tumor progression. | genomic_alterations | {
"id": 6275,
"name": "S100A4",
"pos": [
41,
4
]
} | {
"id": "C0005684",
"name": "Malignant neoplasm of urinary bladder",
"pos": [
54,
14
]
} |
In addition, we propose an evidence-based framework for the clinical management of TP53 mutation carriers and provide a platform for addressing the management of other cancer predisposition syndromes that can affect multiple organs. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
83,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
168,
6
]
} |
Fourth, a multiethnic meta-analysis of all 39 studies identified T2D-associated variants in BCL2 (p = 2.1 × 10(-8)). | genomic_alterations | {
"id": 596,
"name": "BCL2",
"pos": [
92,
4
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
65,
3
]
} |
No AQP3 expression was demonstrated in small cell carcinoma, pleomorphic carcinoma, or metastatic colon adenocarcinoma. | NA | {
"id": 360,
"name": "AQP3",
"pos": [
3,
4
]
} | {
"id": "C0262584",
"name": "Carcinoma, Small Cell",
"pos": [
39,
20
]
} |
Furthermore, we showed in COX regression assay that PLD1 was a risk factor for glioma (<i>p</i> = 0.018, HR = 0.461, 95% CI = 0.243-0.887). | genomic_alterations | {
"id": 9377,
"name": "COX5A",
"pos": [
26,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
79,
6
]
} |
Additionally, the combination of p16 and p21(CIP1) (p21-S154A) peptides dramatically suppressed the growth of glioblastoma line Gli36DeltaEGFR, which carries a missense mutation in p53, by >97% after 120 h. Significantly, our murine brain tumor model for dual-peptide delivery showed a substantial average survival enhancement (P < 0.0001) for peptide-treated mice. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
33,
3
]
} | {
"id": "C0006118",
"name": "Brain Neoplasms",
"pos": [
236,
11
]
} |
ABL kinases protected tumor cells from apoptosis induced by TRAIL (TNF-related apoptosis-inducing ligand), activated the transcription factor STAT5, and promoted osteolysis through the STAT5-dependent expression of genes encoding the osteoclast-activating factors interleukin-6 (IL-6) and matrix metalloproteinase 1 (MMP1). | NA | {
"id": 4312,
"name": "MMP1",
"pos": [
317,
4
]
} | {
"id": "C4721411",
"name": "Osteolysis",
"pos": [
162,
10
]
} |
In a multiple linear regression model, independent correlates of albumin excretion (P < 0.05) included: fasting blood sugar, treated diabetes, treated hypertension, higher systolic blood pressure, lower diastolic blood pressure, abnormal electrocardiogram, a history of stroke, the degree of American Indian heritage, and lower household income. | genomic_alterations | {
"id": 213,
"name": "ALB",
"pos": [
65,
7
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
136,
8
]
} |
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