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In the general population, serum ACE activity increased with the number of D alleles (Kruskal-Wallis ANOVA: II vs. ID, p<0.001; ID vs. DD, p<0.001); however, this did not translate into altered risk of asthma or COPD. | NA | {
"id": 4858,
"name": "NOVA2",
"pos": [
101,
5
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
202,
6
]
} |
This study was undertaken to assess the molecular complete response rate of stages I-III follicular lymphoma to central lymphatic irradiation (CLI) by detection of PCR-amplifiable bcl-2 MBR rearrangement in the bone marrow and peripheral blood before and after CLI. | NA | {
"id": 1191,
"name": "CLU",
"pos": [
261,
3
]
} | {
"id": "C0024301",
"name": "Lymphoma, Follicular",
"pos": [
89,
19
]
} |
Oral glucose tolerance test showed that KRP-101 administration improved glucose intolerance. | biomarker | {
"id": 4638,
"name": "MYLK",
"pos": [
40,
3
]
} | {
"id": "C0271650",
"name": "Impaired glucose tolerance",
"pos": [
72,
19
]
} |
We identified sets of genes expressed only or most abundantly in a specific stage of breast tumorigenesis or in a certain subtype of tumors through the pair-wise comparison and by hierarchical clustering analysis of these eight SAGE libraries (two/stage). | NA | {
"id": 55511,
"name": "SAGE1",
"pos": [
228,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
92,
13
]
} |
Using a case-control design, the association between the MDR1 intron 3 G-rs3789243-A polymorphism and the risk of colorectal carcinomas and adenomas in the Norwegian population was assessed in 167 carcinomas, 990 adenomas, and 400 controls. | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
57,
4
]
} | {
"id": "C0001430",
"name": "Adenoma",
"pos": [
140,
8
]
} |
To determine whether Irs2 signaling modulates neurodegeneration in HD, we genetically modulated Irs2 concentrations in the R6/2 mouse model of HD. | NA | {
"id": 8660,
"name": "IRS2",
"pos": [
96,
4
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
46,
17
]
} |
In SPT positive subjects carrying CD14/-260 CC, country living protected against asthma (OR, 0.32; 95% CI, 0.12-0.85), whereas country living was not associated with asthma in subjects who were atopic and carrying CD14/-260 T (OR, 1.11; 95% CI, 0.65-1.90) (gene-environment interaction, P < 0.05). | NA | {
"id": 929,
"name": "CD14",
"pos": [
34,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
194,
6
]
} |
Xenotropic murine leukemia virus-related virus (XMRV), a gammaretrovirus, has been isolated from human prostate cancer tissue and from activated CD4(+) T cells and B cells of patients with chronic fatigue syndrome, suggesting an association between XMRV infection and these two diseases. | NA | {
"id": 920,
"name": "CD4",
"pos": [
145,
3
]
} | {
"id": "C0015674",
"name": "Chronic Fatigue Syndrome",
"pos": [
189,
24
]
} |
In patients with anaplastic astrocytoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma, combination of germ-line GSTP1*A/*A and GSTM1 null genotype confers a survival advantage. | NA | {
"id": 2950,
"name": "GSTP1",
"pos": [
129,
5
]
} | {
"id": "C0334590",
"name": "Anaplastic Oligodendroglioma",
"pos": [
41,
28
]
} |
The aims of this study were to simultaneously evaluate the expression of Y-box binding protein-1 (YB-1) in non-neoplastic rectal tissue and rectal cancer tissue, and to collect clinical follow-up data for individual patients. | NA | {
"id": 4904,
"name": "YBX1",
"pos": [
98,
4
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
107,
14
]
} |
In addition, TNF-α blockade maintained a higher serum HBV viral load and increased the number of intrahepatic programmed cell death (PD)-1(high)CD127(low) exhausted T cells. | NA | {
"id": 3575,
"name": "IL7R",
"pos": [
144,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
58,
10
]
} |
Recently, pigment-epithelium-derived factor (PEDF) has also been shown to play a role in diabetic retinopathy. | NA | {
"id": 5176,
"name": "SERPINF1",
"pos": [
45,
4
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
10,
7
]
} |
The purpose of this study was to evaluate the regulation of HBD-1 (also published as DEFB1), HBD-2 (DEFB4) and HBD-3 (DEFB103A) (http://www.genenames.org/index.html) and HBD-1 SNPs in oral squamous cell carcinoma cell lines (OSCC) and healthy gingival keratinocytes. | NA | {
"id": 140596,
"name": "DEFB104A",
"pos": [
100,
5
]
} | {
"id": "C0007137",
"name": "Squamous cell carcinoma",
"pos": [
189,
23
]
} |
The monoclonal antibody targeting the shared p40 subunit of IL-12 and IL23, namely ustekinumab, has been approved for Crohn's disease (CD) and has demonstrated promising results in the treatment of ulcerative colitis. | biomarker | {
"id": 8626,
"name": "TP63",
"pos": [
45,
3
]
} | {
"id": "C0009324",
"name": "Ulcerative Colitis",
"pos": [
198,
18
]
} |
Fibroblast growth factor receptor 3 (FGFR3) is a proto-oncogene that is often dysregulated together with multiple myeloma SET-domain (MMSET) by the immunoglobulin heavy chain (IGH) gene in t(4;14)(pos) multiple myeloma (MM) cells, and which is usually not expressed in MM cells without this translocation. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
176,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
291,
13
]
} |
The effects of NO donors on the expression of proteins associated with PEM metabolism, including thymidylate synthase (TS), reduced folate carrier 1 (RFC1), folylpolyglutamate synthase (FPGS), γ-glutamyl hydrolase (GGH) and multidrug resistance-related protein (MRP)5, and the effects of cyclic guanosine mono-phosphate (cGMP) signaling on these proteins were examined in A549 cells. | NA | {
"id": 5981,
"name": "RFC1",
"pos": [
150,
4
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
305,
4
]
} |
The mildest and presumably earliest morphologic changes involved the photoreceptor outer segments, the RPE, and choriocapillaris in this progressive degenerative disease of the retina and choroid. | NA | {
"id": 6120,
"name": "RPE",
"pos": [
103,
3
]
} | {
"id": "C1285162",
"name": "Degenerative disorder",
"pos": [
149,
20
]
} |
Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2. | NA | {
"id": 760,
"name": "CA2",
"pos": [
44,
3
]
} | {
"id": "C1720416",
"name": "Episodic ataxia type 2 (disorder)",
"pos": [
83,
22
]
} |
We conducted hypermethylation profiling of 151 primary breast tumors with association to known prognostic factors in breast cancer using methylation-specific PCR for six known tumor suppressor and related genes: RASSF1A, APC, TWIST, CDH1, GSTP1, and RAR-beta2. | NA | {
"id": 10966,
"name": "RAB40B",
"pos": [
250,
3
]
} | {
"id": "C1458155",
"name": "Mammary Neoplasms",
"pos": [
55,
13
]
} |
Within the immune system, expression of the HSPG syndecan-1 (CD138) is characteristic of terminally differentiated B cells, ie, plasma cells, and their malignant counterpart, multiple myeloma (MM). | NA | {
"id": 6383,
"name": "SDC2",
"pos": [
44,
4
]
} | {
"id": "C0026764",
"name": "Multiple Myeloma",
"pos": [
184,
7
]
} |
One hundred and fifty physically active healthy males voluntarily visit the laboratory on three separate occasions and underwent the following activities: first visit - IPAQ (short version), anthropometric measurements, and a maximal incremental test performed for physiological variables (maximal oxygen uptake [V̇O2] and respiratory compensation point [RCP]); second visit - constant speed test for running economy (RE) measurement, and familiarization with the Maximum Dynamic Strength (1RM) Test in the leg press exercise; third visit - 1RM test. | biomarker | {
"id": 5956,
"name": "OPN1LW",
"pos": [
355,
3
]
} | {
"id": "C0748351",
"name": "respiratory compensation",
"pos": [
323,
24
]
} |
The majority of missense mutations in patients with WAS/XLT are located in the WIP-binding domain of WASP and might result in dissociation of the WASP-WIP complex and WASP degradation. | NA | {
"id": 7454,
"name": "WAS",
"pos": [
167,
4
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
126,
12
]
} |
VIP binding has been demonstrated on many tumor types, and radiolabeled VIP has recently been used as a novel method to localize intestinal tumors in humans and their sites of metastasis. | NA | {
"id": 27151,
"name": "CPAMD8",
"pos": [
72,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
42,
5
]
} |
The observed differences were also assessed in the independent set of laryngeal cancer samples, confirming the role of S100A3 and LCE3D transcripts in HNC. | NA | {
"id": 84648,
"name": "LCE3D",
"pos": [
130,
5
]
} | {
"id": "C0595989",
"name": "Carcinoma of larynx",
"pos": [
70,
16
]
} |
Molecular epidemiology of malaria in Cameroon. XI. Geographic distribution of Plasmodium falciparum isolates with dihydrofolate reductase gene mutations in southern and central Cameroon. | genomic_alterations | {
"id": 1719,
"name": "DHFR",
"pos": [
114,
23
]
} | {
"id": "C0024530",
"name": "Malaria",
"pos": [
26,
7
]
} |
Moreover, the analysis of the expression of these genes in 10 cases of human opisthorchiasis-associated CCA showed that Pdgfa was overexpressed in 80%, and Pdgfra was overexpressed in 40% cases (>3.0 folds, compared with the expressions of adjacent normal tissues). | NA | {
"id": 5154,
"name": "PDGFA",
"pos": [
120,
5
]
} | {
"id": "C0029106",
"name": "Opisthorchiasis",
"pos": [
77,
15
]
} |
Approximately 25% of cases of Diamond Blackfan anemia, a severe hypoplastic anemia, are linked to heterozygous mutations in the gene encoding ribosomal protein S19 that result in haploinsufficiency for this protein. | NA | {
"id": 6223,
"name": "RPS19",
"pos": [
142,
21
]
} | {
"id": "C0178416",
"name": "Hypoplastic anemia",
"pos": [
64,
18
]
} |
Urocortin 2 protects against retinal degeneration following bilateral common carotid artery occlusion in the rat. | NA | {
"id": 90226,
"name": "UCN2",
"pos": [
0,
11
]
} | {
"id": "C0035304",
"name": "Retinal Degeneration",
"pos": [
29,
20
]
} |
The expression of six chromosome 3p21.3 candidate tumor suppressor genes (BLU, FUS2, HYAL2, NPRL2, RASSF1A, and SEMA3B) in esophageal squamous cell carcinoma (ESCC) has been investigated. | NA | {
"id": 8692,
"name": "HYAL2",
"pos": [
85,
5
]
} | {
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
123,
34
]
} |
We observed prevalent mono-allelic BECN1 gene deletion (76%) in TCGA tumors, yet demonstrate for the first time that Beclin-1 protein expression remains relatively unaltered in these and additional samples generated at our institution. | NA | {
"id": 8678,
"name": "BECN1",
"pos": [
35,
10
]
} | {
"id": "C0021345",
"name": "Infectious Mononucleosis",
"pos": [
22,
4
]
} |
We evaluated 29 Caucasian patients with vasculitis classified as PAN or MPA according to the American College of Rheumatology (ACR) 1990 Criteria, Chapel Hill Consensus Conference (CHCC) nomenclature for vasculitis and EULAR recommendations for conducting clinical studies in systemic vasculitis. | NA | {
"id": 49,
"name": "ACR",
"pos": [
127,
3
]
} | {
"id": "C0264939",
"name": "Systemic Vasculitis",
"pos": [
276,
19
]
} |
Angiotensin I-converting enzyme polymorphisms, ACE level and blood pressure among Nigerians, Jamaicans and African-Americans. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
47,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
61,
14
]
} |
Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia. | NA | {
"id": 2057,
"name": "EPOR",
"pos": [
51,
28
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
93,
8
]
} |
It is important to note that the most common site of CA-MRSA infection in inpatients was the respiratory tract; respiratory infections with CA-MRSA frequently cause severe infectious diseases. | genomic_alterations | {
"id": 10479,
"name": "SLC9A6",
"pos": [
145,
4
]
} | {
"id": "C0343401",
"name": "MRSA - Methicillin resistant Staphylococcus aureus infection",
"pos": [
54,
7
]
} |
The 2 FV variants yielded identical APC resistance patterns, with APC responses being intermediate to those of wild-type FV and FV Leiden (Arg506Gln), which is known to be associated with the APC resistance phenotype. | genomic_alterations | {
"id": 5624,
"name": "PROC",
"pos": [
66,
3
]
} | {
"id": "C0600433",
"name": "Activated Protein C Resistance",
"pos": [
192,
14
]
} |
Combined plasma CgA concentrations and WHO grading may assist in better stratification of PNET patients in terms of the risk of recurrence. | biomarker | {
"id": 1113,
"name": "CHGA",
"pos": [
16,
3
]
} | {
"id": "C0206663",
"name": "Neuroectodermal Tumor, Primitive",
"pos": [
90,
4
]
} |
Loss of Ptf1a alone is sufficient to induce acinar-to-ductal metaplasia, potentiate inflammation, and induce a KRAS-permissive, PDAC-like gene expression profile. | NA | {
"id": 256297,
"name": "PTF1A",
"pos": [
8,
5
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
84,
12
]
} |
6-Gingerol and 6-shogaol concentrations of ≥ 10 μM and ≥ 2.5 μM, respectively, significantly inhibited the phosphorylation of mitogen-activated protein kinase (MAPK) and PI3K/Akt signaling, the activation of NF-κB, and the translocation of NF-κB and STAT3. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
250,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
223,
13
]
} |
The majority of associated anomalies, with the exception of psychomotor retardation and Chiari malformation, were detected more frequently in TWIST1 patients than in FGFR3 p.P250R patients. | NA | {
"id": 57492,
"name": "ARID1B",
"pos": [
174,
5
]
} | {
"id": "C0424230",
"name": "Motor retardation",
"pos": [
60,
23
]
} |
ACTH therapy in infantile spasms: side effects. | therapeutic | {
"id": 5443,
"name": "POMC",
"pos": [
0,
4
]
} | {
"id": "C1527366",
"name": "Salaam Seizures",
"pos": [
16,
16
]
} |
Our data indicate that this TTR variant is present at equal frequency in African-Americans throughout the U.S., and suggest that this mutation may be a common, often unrecognized cause of cardiac disease in African-Americans. | genomic_alterations | {
"id": 7276,
"name": "TTR",
"pos": [
28,
3
]
} | {
"id": "C0018799",
"name": "Heart Diseases",
"pos": [
188,
15
]
} |
Evaluation of the HER2/neu-derived peptide GP2 for use in a peptide-based breast cancer vaccine trial. | therapeutic | {
"id": 2064,
"name": "ERBB2",
"pos": [
18,
8
]
} | {
"id": "C1257931",
"name": "Mammary Neoplasms, Human",
"pos": [
74,
13
]
} |
Desmoplastic small round cell tumor (DSRCT) is a primitive sarcoma with a consistent cytogenetic abnormality, t(11;22)(p13;q12). | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
119,
3
]
} | {
"id": "C1261473",
"name": "Sarcoma",
"pos": [
59,
7
]
} |
In Ewing tumors, chromosomal translocations affecting ETV1 or ETV4 are an underlying cause of carcinogenesis. | genomic_alterations | {
"id": 2118,
"name": "ETV4",
"pos": [
62,
4
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
94,
14
]
} |
Clinical and molecular characterization of patients with horizontal gaze palsy with progressive scoliosis (HGPPS) to extend existing knowledge of the phenotype caused by mutations in the Roundabout homolog of Drosophila 3 (ROBO3) gene. | genomic_alterations | {
"id": 64221,
"name": "ROBO3",
"pos": [
223,
5
]
} | {
"id": "C1846496",
"name": "Gaze Palsy, Familial Horizontal, with Progressive Scoliosis",
"pos": [
57,
48
]
} |
beta-Catenin is a component of the E-cadherin/catenin adhesion complex that maintains epithelial cell integrity. | NA | {
"id": 999,
"name": "CDH1",
"pos": [
35,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
54,
8
]
} |
These results suggest that KAP1 plays an important role in progression to peritoneal carcinomatosis in gastric cancer patients. | NA | {
"id": 10155,
"name": "TRIM28",
"pos": [
27,
4
]
} | {
"id": "C0205699",
"name": "Carcinomatosis",
"pos": [
85,
14
]
} |
Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene.CDH in DDS is rare. | genomic_alterations | {
"id": 7490,
"name": "WT1",
"pos": [
106,
3
]
} | {
"id": "C0235833",
"name": "Congenital diaphragmatic hernia",
"pos": [
115,
3
]
} |
Activation of the Fli-1 gene by either chromosomal translocation or viral insertion leads to Ewing's sarcoma in humans and erythroleukemia in mice, respectively. | genomic_alterations | {
"id": 2313,
"name": "FLI1",
"pos": [
18,
5
]
} | {
"id": "C2347748",
"name": "Adult Erythroleukemia",
"pos": [
123,
15
]
} |
Furthermore, we show that in DS, impaired glucose metabolism, represented by increased PGK activity, is a specific finding rather than a secondary phenomenon simply due to neurodegeneration or atrophy. | NA | {
"id": 5592,
"name": "PRKG1",
"pos": [
87,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
172,
17
]
} |
Data from several human and animal studies imply an important function for HO-1 in the genetic regulation of early, as well as late atherogenesis, and plaque destabilization toward a vulnerable phenotype. | NA | {
"id": 3162,
"name": "HMOX1",
"pos": [
75,
4
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
151,
6
]
} |
Specifically, centrin 2 and centrin 3 expression levels were classified as moderate or abundant in >97% of samples in the meningioma group, 63% of astrocytomas, >83% of metastatic and pituitary tumors. | NA | {
"id": 1069,
"name": "CETN2",
"pos": [
14,
9
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
184,
16
]
} |
Moreover, very recent data addressing molecular processes underlying copper dysfunction in AD have indicated that genetic variations of K832R and R952K Single Nucleotide Polymorphisms (SNPs) of the Wilson's disease gene ATP7B are associated also with sporadic AD. | NA | {
"id": 540,
"name": "ATP7B",
"pos": [
220,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
251,
8
]
} |
Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
75,
12
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
0,
17
]
} |
Altogether, these results indicate that the inactivation of PTPRJ may be a common lymphomagenic mechanism in these NHL subtypes and that haplotypes in PTPRJ gene may play a role in susceptibility to NHL, by affecting activation of PTPRJ in these B-cell lymphomas. | genomic_alterations | {
"id": 5795,
"name": "PTPRJ",
"pos": [
151,
5
]
} | {
"id": "C0079731",
"name": "B-Cell Lymphomas",
"pos": [
246,
16
]
} |
These results suggest that expression of the SASP in the context of cancer undermines normal tissue homeostasis and contributes to tumorigenesis and tumor progression. | NA | {
"id": 151516,
"name": "ASPRV1",
"pos": [
45,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
131,
13
]
} |
The aim of the present study was to test this assumption using the novel prostate cancer xenograft model KUCaP-1 harboring the W741C mutant AR (Yoshida et al., Cancer Res 2005; 65(21): 9611-9616). | genomic_alterations | {
"id": 367,
"name": "AR",
"pos": [
140,
2
]
} | {
"id": "C0600139",
"name": "Prostate carcinoma",
"pos": [
73,
15
]
} |
Using Real-time quantitative PCR (RQ-PCR) and western blotting analysis we studied the HOXA11 transcript and protein levels in mid-luteal eutopic endometrium from eighteen infertile women with minimal endometriosis, sixteen healthy fertile women and sixteen infertile women with fallopian tubal occlusion from the Polish population. | NA | {
"id": 3207,
"name": "HOXA11",
"pos": [
88,
6
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
259,
9
]
} |
To define these pathways, we generated mice with a ventricular-restricted knockout of Nkx2-5, which display no structural defects but have progressive complete heart block, and massive trabecular muscle overgrowth found in some patients with Nkx2-5 mutations. | NA | {
"id": 1482,
"name": "NKX2-5",
"pos": [
242,
6
]
} | {
"id": "C1849265",
"name": "Overgrowth",
"pos": [
203,
10
]
} |
Employing criteria previously established for EGFR copy number, patients with IGF1R amplification/high polysomy (n = 48; 27%) had 3-year survival of 58%, patients with low polysomy (n = 87; 48%) had 3-year survival of 47% and patients with trisomy/disomy (n = 46; 25%) had 3-year survival of 35%, respectively (P = .024). | NA | {
"id": 3480,
"name": "IGF1R",
"pos": [
78,
5
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
240,
7
]
} |
In contrast, 18 (90%) of 20 de novo carcinomas lacked abnormalities in PLAG1 or HMGA2 (P < .01). | NA | {
"id": 8091,
"name": "HMGA2",
"pos": [
80,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
54,
13
]
} |
The issues of whether and by what mechanism hyperlipidemic stress induces IL-17A to activate aortic endothelial cells (ECs) and enhance monocyte adhesion remained largely unknown. | NA | {
"id": 3605,
"name": "IL17A",
"pos": [
74,
6
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
145,
8
]
} |
The HHLs had significantly higher systolic blood pressure (SBP), diastolic blood pressure (DBP) (P < 0.0001), body mass index (BMI) (P = 0.0002), plasma aldosterone levels (P = 0.03) and aldosterone to plasma renin ratio (ARR) (P < 0.0001) and lower plasma renin activity (PRA) (P = 0.007). | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
273,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
65,
24
]
} |
In our study, entropy associated to the HLA and KIR systems was compared between a cohort of 619 Sardinian healthy controls and a group of 270 patients affected by multiple sclerosis (MS), the latter stratified into 81 patients with primary progressive multiple sclerosis (PPMS) and 189 patients with relapsing remitting multiple sclerosis (RRMS). | biomarker | {
"id": 2669,
"name": "GEM",
"pos": [
48,
3
]
} | {
"id": "C0751964",
"name": "Multiple Sclerosis, Primary Progressive",
"pos": [
233,
38
]
} |
Memory CD4(+) T helper (Th) cells provide long-term protection against pathogens and are essential for the development of vaccines; however, some antigen-specific memory Th cells also drive immune-related pathology, including asthma. | NA | {
"id": 920,
"name": "CD4",
"pos": [
7,
3
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
226,
6
]
} |
Further, our results show that drug-naïve PD and PD-MCI patients have glucose levels characteristic of pre-diabetes patients, suggesting that impaired glucose metabolism is an early event in PD. | NA | {
"id": 345643,
"name": "MCIDAS",
"pos": [
52,
3
]
} | {
"id": "C0362046",
"name": "Prediabetes syndrome",
"pos": [
103,
12
]
} |
In this study, we compared the prevalence of tumour EGFR and KRAS mutations in a cohort of lung adenocarcinoma patients by HIV status. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
52,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
45,
6
]
} |
In both in vivo assays, PIGF-1 induced a strong neovascularization process that was blocked by affinity-purified anti-PIGF-1 antibody. | NA | {
"id": 5228,
"name": "PGF",
"pos": [
24,
4
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
48,
18
]
} |
We also examined the following antigens as indicative of activation and adhesion of the monocytes in these patients: CD11b, CD18, CD35, CD38, CD44, CD69. | NA | {
"id": 3689,
"name": "ITGB2",
"pos": [
124,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
72,
8
]
} |
CircWHSC1 promotes ovarian cancer progression by regulating MUC1 and hTERT through sponging miR-145 and miR-1182. | biomarker | {
"id": 100302132,
"name": "MIR1182",
"pos": [
104,
8
]
} | {
"id": "C1140680",
"name": "Malignant neoplasm of ovary",
"pos": [
19,
14
]
} |
miR-1271 regulates cisplatin resistance of human gastric cancer cell lines by targeting IGF1R, IRS1, mTOR, and BCL2. | NA | {
"id": 3667,
"name": "IRS1",
"pos": [
95,
4
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
49,
14
]
} |
Reportedly, Hdac4(-/-) mice have severe bone malformations resulting from premature ossification of developing bones. | biomarker | {
"id": 9759,
"name": "HDAC4",
"pos": [
12,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
45,
13
]
} |
The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase. | genomic_alterations | {
"id": 6654,
"name": "SOS1",
"pos": [
268,
34
]
} | {
"id": "C0339528",
"name": "X-linked retinitis pigmentosa",
"pos": [
98,
29
]
} |
When injected intravenously, PACAP induced a significant, concentration-dependent vascular response (ie, flush, erythema, edema) and mediated a significant and concentration-dependent increase in intrarectal body temperature that peaked at 2.7°C. | NA | {
"id": 116,
"name": "ADCYAP1",
"pos": [
29,
5
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
122,
5
]
} |
AIM: We aimed to identify defects in the programmed cell death pathway that can be related to pleural malignant mesothelioma (MM) unresponsiveness to chemotherapy. | NA | {
"id": 922,
"name": "CD5L",
"pos": [
0,
3
]
} | {
"id": "C0025500",
"name": "Mesothelioma",
"pos": [
112,
12
]
} |
These data support the role of hsa-miR-548l as a regulator of FOXC1 translation and provide evidence for the c.*734A>T variant as a modifier factor for the activity of coding glaucoma-associated FOXC1 mutations. | NA | {
"id": 100302275,
"name": "MIR548L",
"pos": [
31,
12
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
175,
8
]
} |
Inhibition of LTB(4)/BLT(1) signaling during the response to vascular injury reduced intimal hyperplasia, suggesting this pathway as a possible target for therapy. | NA | {
"id": 4050,
"name": "LTB",
"pos": [
14,
3
]
} | {
"id": "C0334096",
"name": "Intimal proliferation",
"pos": [
85,
19
]
} |
Phase I and pharmacologic study of paclitaxel and cisplatin with granulocyte colony-stimulating factor: neuromuscular toxicity is dose-limiting. | therapeutic | {
"id": 1440,
"name": "CSF3",
"pos": [
65,
37
]
} | {
"id": "C0013221",
"name": "Drug toxicity",
"pos": [
118,
8
]
} |
We found that IGF-I and IGF-II levels in bronchial tissue specimens containing high-grade dysplasia were significantly higher than in those containing normal epithelium, hyperplasia, and squamous metaplasia. | NA | {
"id": 3481,
"name": "IGF2",
"pos": [
24,
6
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
170,
11
]
} |
Since we showed an increased activity of acetyltransferases in this autoimmune disease, we wanted to analyze whether this affects the expression of MMP-1 and can be reversed by the reconstitution of SENP1. | NA | {
"id": 29843,
"name": "SENP1",
"pos": [
199,
5
]
} | {
"id": "C0004364",
"name": "Autoimmune Diseases",
"pos": [
68,
18
]
} |
Whole blood flow cytometry was carried out with samples from 17 euploid and 16 aneuploid miscarriages, 18 pregnant controls and 13 NPW. | NA | {
"id": 283869,
"name": "NPW",
"pos": [
131,
3
]
} | {
"id": "C0002938",
"name": "Aneuploidy",
"pos": [
79,
9
]
} |
This is the first reported case of acute, multiple coronary and peripheral arterial thrombosis following PCI in a patient with previously unsuspected inherited thrombophilia. | NA | {
"id": 5104,
"name": "SERPINA5",
"pos": [
105,
3
]
} | {
"id": "C0398623",
"name": "Thrombophilia",
"pos": [
160,
13
]
} |
Induction of centrosome amplification and chromosome instability in p53-null cells by transient exposure to subtoxic levels of S-phase-targeting anticancer drugs. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
68,
3
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
42,
22
]
} |
No evidence for an association between the BDNF Val66Met polymorphism and schizophrenia or personality traits. | NA | {
"id": 627,
"name": "BDNF",
"pos": [
43,
4
]
} | {
"id": "C0233849",
"name": "Personality Traits",
"pos": [
91,
18
]
} |
We identified five novel disease-causing heterozygous EYA1 mutations in five patients with BOR syndrome (two familial and three sporadic, 5/7=71%), but EYA1 and SIX1 mutations were not detected in the other two patients with BOR syndrome or any of the patients with BOR-related conditions. | NA | {
"id": 55143,
"name": "CDCA8",
"pos": [
266,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
128,
8
]
} |
JAZF1, FTO, CDKAL1, and HHEX/IDE are associated with diabetic nephropathy. | NA | {
"id": 3416,
"name": "IDE",
"pos": [
29,
3
]
} | {
"id": "C0011881",
"name": "Diabetic Nephropathy",
"pos": [
53,
20
]
} |
Compared to the HGF group, infarct size decreased from 32%±7% (control) to 23%±5% in the HGF-US/MB group 28 d later (P<0.05). | NA | {
"id": 3082,
"name": "HGF",
"pos": [
89,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
27,
7
]
} |
Gliadin interaction with the intestinal epithelium increases intestinal permeability through the MyD88-dependent release of zonulin that, in turn, enables paracellular translocation of gliadin and its subsequent interaction with macrophages within the intestinal submucosa. | NA | {
"id": 4615,
"name": "MYD88",
"pos": [
97,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
168,
13
]
} |
We report the first systematic genetic analysis of the GJB2 gene in a population-derived sample of children with slight/mild bilateral SNHL. | NA | {
"id": 2706,
"name": "GJB2",
"pos": [
55,
9
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
120,
4
]
} |
Therefore, increased Mdm2 expression facilitated B-cell lymphomagenesis, in part, through regulation of p53 by altering B-cell proliferation and susceptibility to apoptosis, and by inducing chromosomal instability. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
104,
3
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
190,
23
]
} |
Antigen-specific over-expression of HC gp-39 in splenic CD4(+) CD25(+) FoxP3(+) T(reg) cells occurs in the induction phase of GPI-induced arthritis, and addition of recombinant HC gp-39 suppresses antigen-specific T-cell proliferation and cytokine production, suggesting that HC gp-39 in CD4(+) T cells might play a regulatory role in arthritis. | NA | {
"id": 920,
"name": "CD4",
"pos": [
288,
3
]
} | {
"id": "C0003864",
"name": "Arthritis",
"pos": [
335,
9
]
} |
Consistent with these in vitro data, we found that systemic administration of an HBA led to marked increases in the level of Hsp72 in both normal mouse tissues and human tumor xenografts. | NA | {
"id": 85340,
"name": "KRT90P",
"pos": [
81,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
170,
5
]
} |
We analyzed BNIP3 expression in 105 tumor samples from early operable, non-small lung cancer and the relationship of expression to hypoxia-inducible factor 1alpha, other hypoxia-regulated pathways, and prognosis. | NA | {
"id": 664,
"name": "BNIP3",
"pos": [
12,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
170,
7
]
} |
Purified human kallistatin significantly inhibited vascular endothelial growth factor (VEGF)- or basic fibroblast growth factor (bFGF)-induced proliferation, migration, and adhesion of cultured endothelial cells. | NA | {
"id": 5267,
"name": "SERPINA4",
"pos": [
15,
11
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
173,
8
]
} |
While inheritance of mutated alleles of highly penetrant tumor suppressor genes such as retinoblastoma or p53 predisposes individuals to a greatly increased risk of developing cancer, epidemiological data indicate that the majority of sporadic tumors in humans result from interactions of environmental and host genetic factors. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
106,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
176,
6
]
} |
EAF2 knockout mice on a 129P2/OLA-C57BL/6J background developed late-onset lung adenocarcinoma, hepatocellular carcinoma, B-cell lymphoma and high-grade prostatic intraepithelial neoplasia. | NA | {
"id": 55929,
"name": "DMAP1",
"pos": [
1,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
97,
24
]
} |
Associations with insulin resistance [using corrected insulin response (CIR-30), insulin sensitivity index (ISI-120) and oral glucose tolerance test] were also examined among controls. | NA | {
"id": 9541,
"name": "CIR1",
"pos": [
72,
3
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
18,
18
]
} |
These results indicate that combination analysis of PCR of IgH and MIB-1 seems to represent a very good current approach for the diagnosis of gastric low-grade MALT lymphoma and to assess the effects of chemotherapy, especially in problematic cases. | biomarker | {
"id": 4288,
"name": "MKI67",
"pos": [
67,
5
]
} | {
"id": "C1850900",
"name": "Familial primary gastric lymphoma",
"pos": [
160,
13
]
} |
Significant improvement in huntingtin-elicited Drosophila eye neurodegeneration in the fly was observed in response to treatment with compounds targeting human HDAC1 and/or HDAC3. | NA | {
"id": 8841,
"name": "HDAC3",
"pos": [
173,
5
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
62,
17
]
} |
Two hundred and twenty-three incident papillary thyroid cancer cases and 229 controls recruited from Saudi Arabian population were analyzed for 21 loci in 8 selected DNA repair genes by PCR-restriction fragment length polymorphism including non-homologous end joining pathway genes LIGIV (LIGlV ASP62HIS, PRO231SER, TRP46TER), XRCC4 Splice 33243301G>A and XRCC7 ILE3434THR; homologous recombination pathway genes XRCC3 ARG94HIS and THR241MET, RAD51 UTR 15452658T>C, 15455419A>G, RAD52 2259 and GLN221GLU, conserved DNA damage response gene Tp53 PRO47SER, PRO72ARG, Tp53 UTR 7178189A>C and base excision repair gene XRCC1 ARG194TRP, ARG280HIS, ARG399GLN, ARG559GLN. | NA | {
"id": 8170,
"name": "SLC14A2",
"pos": [
570,
3
]
} | {
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
38,
24
]
} |
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