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STS GB showed frequent deletion in 9p11.2 (forkhead box D4-like 2 and aquaporin 7 pseudogene 3) and 22q11.21 (Hypermethylated In Cancer 2). | genomic_alterations | {
"id": 441432,
"name": "AQP7P3",
"pos": [
70,
24
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
4,
2
]
} |
This study aimed to assess the frequency, relationship and impact of p53 abnormalities and those of its inhibitor mdm2 in blastoid and non-blastoid MCL in leukemic phase. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
114,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
73,
13
]
} |
Using breast cancer and glioblastoma as examples to examine intrinsic subtypes of particular cancers, EZH2 activation was highest in luminal breast cancers and proneural glioblastomas, while HDAC4 activation was highest in basal breast cancer and mesenchymal glioblastoma. | biomarker | {
"id": 9759,
"name": "HDAC4",
"pos": [
191,
5
]
} | {
"id": "C3829122",
"name": "Mesenchymal Glioblastoma",
"pos": [
247,
24
]
} |
These animals developed perinuclear accumulation of ubiquitin and the E3 ubiquitin ligase HRD1 in discrete sensorimotor regions, followed by neurodegeneration that was substantially milder in nestin-Cre Tor1a(flox/ΔE) compared with nestin-Cre Tor1a(flox/-) animals. | NA | {
"id": 1861,
"name": "TOR1A",
"pos": [
243,
5
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
141,
17
]
} |
We found no association among both uPA or TAFI polymorphisms and endometriosis-related infertility (p=0.920 and p=0.356, respectively) or idiopathic infertility (p=0.502 and p=0.392, respectively) comparing to controls, even considering minimal/mild and moderate/severe endometriosis separately. | NA | {
"id": 1361,
"name": "CPB2",
"pos": [
42,
4
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
245,
4
]
} |
This descriptive study, although small, demonstrates the difficulty in applying the current World Health Organization provisional criteria at a single institution with suggestion of an immunohistochemcial panel that may assist in the diagnosis of TCEB1-mutated RCC with leiomyomatous stroma. | genomic_alterations | {
"id": 6921,
"name": "ELOC",
"pos": [
247,
5
]
} | {
"id": "C0279702",
"name": "Conventional (Clear Cell) Renal Cell Carcinoma",
"pos": [
261,
3
]
} |
Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA patients. | genomic_alterations | {
"id": 8926,
"name": "SNURF",
"pos": [
73,
3
]
} | {
"id": "C0026847",
"name": "Spinal Muscular Atrophy",
"pos": [
120,
3
]
} |
These results suggest that the massive reduction in c-myc mRNA induces apoptosis in liver cancer cell lines and consequent decrease in Bcl-2 enhances the cell death. c-Myc reduction under the Cre/loxP switching system may be a useful tool for the clarification of c-myc-related cellular mechanisms in differentiation and proliferation. | biomarker | {
"id": 596,
"name": "BCL2",
"pos": [
135,
5
]
} | {
"id": "C0279000",
"name": "Liver and Intrahepatic Biliary Tract Carcinoma",
"pos": [
84,
12
]
} |
We analyzed the reciprocal expression regulation of miR-31 and SOX4 in esophageal squamous and adenocarcinoma cell lines by qRT-PCR and Western blotting using overexpression and shRNA knock-down approaches. | NA | {
"id": 6659,
"name": "SOX4",
"pos": [
63,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
71,
10
]
} |
When a representative predictor set of 92 genes was examined, pathways of 'focal adhesion' (with gene components of THBS2, PDGFD, MAPK1, COL1A2, COL6A3), 'ECM-receptor interaction' pathway (THBS2, COL1A2, COL6A3, FN1) and 'TGF-beta signaling' (THBS2, MAPK1, INHBA) represent some of the main differences between normal and tumor of gastric cancer at a molecular level. | biomarker | {
"id": 1293,
"name": "COL6A3",
"pos": [
205,
6
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
332,
14
]
} |
The effect of vasoactive intestinal peptide (VIP) on cyclooxygenase-2 (COX-2) expression was analyzed in human prostate non-neoplastic (RWPE-1) as well as cancer androgen-dependent (LNCaP) and independent (PC3) cells. | NA | {
"id": 7832,
"name": "BTG2",
"pos": [
206,
3
]
} | {
"id": "C1709246",
"name": "Non-Neoplastic Disorder",
"pos": [
120,
14
]
} |
Therefore, the INSM1-promoter specific conditional replicating adenovirus represents a sensitive diagnostic tool to aid clinicians in the detection of NE tumors. | biomarker | {
"id": 3642,
"name": "INSM1",
"pos": [
15,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
154,
6
]
} |
The purpose of this article is to provide an overview of current understanding of the identity of small G proteins (e.g., Cdc42, Rac1, and ARF-6) and their corresponding regulatory factors (e.g., GDP/GTP-exchange factors, GDP-dissociation inhibitors) in the pancreatic beta-cell. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
139,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
226,
12
]
} |
Three of these loci also demonstrated genome-wide significant association with refractive astigmatism: LINC00340, HERC2/OCA2 and NPLOC4/TSPAN10. | biomarker | {
"id": 401237,
"name": "CASC15",
"pos": [
103,
9
]
} | {
"id": "C0004106",
"name": "Astigmatism",
"pos": [
90,
11
]
} |
Thus, we were unable to find evidence for the hypothesis that in PCOS a single abnormal kinase hyperphosphorylates both IR-beta, causing insulin resistance, and P450c17, causing hyperandrogenism. | NA | {
"id": 1586,
"name": "CYP17A1",
"pos": [
161,
7
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
137,
18
]
} |
Recent studies have demonstrated an association of the T allele of a promoter polymorphism [C590T] of interleukin-4 (IL-4) gene with asthma/atopy in the US and Japanese populations, but data from the UK and Australian families failed to find an association. | NA | {
"id": 3565,
"name": "IL4",
"pos": [
117,
4
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
140,
5
]
} |
These findings might suggest that the eight proteins, RBBP6, GLG1, VPS13A, DCTPP1, HSPA9, HSPA4, ALDOA, and KRT18, utilizing comparative proteomics analysis, were perceived to be potential CSC markers of gastric cancer. | NA | {
"id": 226,
"name": "ALDOA",
"pos": [
97,
5
]
} | {
"id": "C0024623",
"name": "Malignant neoplasm of stomach",
"pos": [
204,
14
]
} |
Moreover, adhesion molecular vascular cell adhesion molecule-1 (VCAM-1) and intercellular adhesion molecule-1 (ICAM-1), acute phase reactant C-reactive protein (CRP), and proinflammatory cytokine interleukin-6 (IL-6) were significantly enhanced in CUS treated ApoE(-/-) mice compared with untreated control animals (P<0.01). | NA | {
"id": 1401,
"name": "CRP",
"pos": [
161,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
10,
8
]
} |
In the control group, there was slight transcription and protein expression of HIF-1alpha at 0 h after hypoxia. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
79,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
103,
7
]
} |
To understand the biological role of BRCA1 in sporadic breast cancers, the relationship between DNA methylation of the BRCA1 promoter region and BRCA1 expression was studied using molecular biological and immunohistochemical methods. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
145,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
46,
8
]
} |
Silencing of SF2/ASF in pituitary tumor GH3 cells resulted in change of ratio between DIO1 isoforms with or without exon 3, favoring the expression of variants without exon 3. | NA | {
"id": 11083,
"name": "DIDO1",
"pos": [
86,
4
]
} | {
"id": "C0032019",
"name": "Pituitary Neoplasms",
"pos": [
24,
15
]
} |
Assessing the prognostic role of ATR mutation in endometrioid endometrial cancer: An NRG Oncology/Gynecologic Oncology Group study. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
33,
3
]
} | {
"id": "C0476089",
"name": "Endometrial Carcinoma",
"pos": [
62,
18
]
} |
The change was not, however, consistent with the observed symptomatic-asymptomatic phenotypes in a family affected by PRPF31-adRP. | NA | {
"id": 26121,
"name": "PRPF31",
"pos": [
118,
6
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
70,
12
]
} |
We describe a female newborn girl with partial trisomy 17p, which was not detected at the initial cytogenetic investigation, but which later proved to be an unbalanced product of a paternal translocation t(8;17)(p23;p11.2). | NA | {
"id": 8909,
"name": "ENDOU",
"pos": [
216,
3
]
} | {
"id": "C0795865",
"name": "Chromosome 17, trisomy 17p",
"pos": [
47,
11
]
} |
Therefore, we conclude that in our samples, the A2M I/V genotype might be a susceptibility variant, even with minor effect, for both sporadic AD and PD. | NA | {
"id": 2,
"name": "A2M",
"pos": [
48,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
133,
8
]
} |
Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97). | genomic_alterations | {
"id": 4524,
"name": "MTHFR",
"pos": [
224,
5
]
} | {
"id": "C0009402",
"name": "Colorectal Carcinoma",
"pos": [
29,
3
]
} |
The PITX2 T68P ARS mutation occurs at a protein kinase C phosphorylation site in the homeodomain. | genomic_alterations | {
"id": 5308,
"name": "PITX2",
"pos": [
4,
5
]
} | {
"id": "C4085595",
"name": "AL-RAQAD SYNDROME",
"pos": [
15,
3
]
} |
We also show that loss of both SmgGDS-607 and SmgGDS-558 simultaneously decreases tumorigenesis of NCI-H1703 non-small cell lung carcinoma (NSCLC) xenografts in mice. | genomic_alterations | {
"id": 5910,
"name": "RAP1GDS1",
"pos": [
46,
6
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
82,
13
]
} |
Lysyl oxidase (LOX) has been reported to regulate tumor metastasis and has been found to involve in modification of extracellular matrix (ECM) in the context of tumorigenesis. | NA | {
"id": 4015,
"name": "LOX",
"pos": [
15,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
161,
13
]
} |
Sex-Specific Life Course Changes in the Neuro-Metabolic Phenotype of Glut3 Null Heterozygous Mice: Ketogenic Diet Ameliorates Electroencephalographic Seizures and Improves Sociability. | genomic_alterations | {
"id": 6515,
"name": "SLC2A3",
"pos": [
69,
5
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
150,
8
]
} |
These findings confirm the importance of genetic factors in body weight change induced by long-term clozapine treatment in patients with schizophrenia, and indicate a role for the G protein beta3 subunit in body weight regulation during long-term clozapine treatment. | NA | {
"id": 27319,
"name": "BHLHE22",
"pos": [
190,
5
]
} | {
"id": "C0036341",
"name": "Schizophrenia",
"pos": [
137,
13
]
} |
To elucidate the relationship between HIV-1 viremia and CXCL13 plasma levels, PBMCs from uninfected donors were stimulated with HIV-1 infectious virions, HIV-1 ssRNA, TLR 7 and 8 agonists, or IFN-α. | NA | {
"id": 10563,
"name": "CXCL13",
"pos": [
56,
6
]
} | {
"id": "C0042749",
"name": "Viremia",
"pos": [
44,
7
]
} |
Our findings suggest that the p21 polymorphism independently and p21 and p27 polymorphisms jointly contribute to a significantly earlier age at diagnosis of pancreatic cancer. | genomic_alterations | {
"id": 353376,
"name": "TICAM2",
"pos": [
73,
3
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
157,
17
]
} |
To test the hypothesis that adiponectin exerts direct antiproliferative and/or pro-apoptotic effects on cancer cells, we used the PC-3 human prostate adenocarcinoma cell line. | biomarker | {
"id": 9370,
"name": "ADIPOQ",
"pos": [
28,
11
]
} | {
"id": "C0007112",
"name": "Adenocarcinoma of prostate",
"pos": [
141,
23
]
} |
Because robust sex differences exist in the immune system and in hypertension, we investigated sex differences in T-cell modulation of angiotensin II-induced increases in mean arterial pressure in male (M) and female (F) wild-type and recombination-activating-gene-1-deficient (Rag1(-/-)) mice. | NA | {
"id": 5896,
"name": "RAG1",
"pos": [
278,
4
]
} | {
"id": "C0428886",
"name": "Mean blood pressure",
"pos": [
171,
22
]
} |
Moreover, we found that silibinin could inhibit the nuclear factor kappaB (NF-kappaB) p50 translocation via the up-regulation of I kappaB alpha protein, and possibly subsequently down-regulated the expression of two major EMT regulators, ZEB1 and SLUG transcription factors. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
86,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
90,
13
]
} |
Morphologic Change of Parvalbumin-positive Myelinated Axons in the Human Dental Pulp. | biomarker | {
"id": 5816,
"name": "PVALB",
"pos": [
22,
11
]
} | {
"id": "C1260954",
"name": "Morphologically altered structure",
"pos": [
0,
18
]
} |
Role of central nicotinic and beta-adrenergic receptors in the onset and further development of tail-tremor induced by repeated nicotine administration to rats. | therapeutic | {
"id": 154,
"name": "ADRB2",
"pos": [
30,
26
]
} | {
"id": "C0234379",
"name": "Resting Tremor",
"pos": [
101,
6
]
} |
Here we report the comprehensive immune evaluation of a child with a novel NFKB2 mutation and provide evidence that aberrant NFKB2 signaling not only causes humoral immune deficiency, but also interferes with the TCR-mediated proliferation of T cells. | genomic_alterations | {
"id": 4791,
"name": "NFKB2",
"pos": [
75,
5
]
} | {
"id": "C0021051",
"name": "Immunologic Deficiency Syndromes",
"pos": [
165,
17
]
} |
All patients from the 2016 ACS-NSQIP proctectomy-targeted database who underwent elective proctectomy for rectal cancer were identified. | genomic_alterations | {
"id": 23659,
"name": "PLA2G15",
"pos": [
27,
3
]
} | {
"id": "C0007113",
"name": "Rectal Carcinoma",
"pos": [
106,
13
]
} |
Plasminogen activator inhibitor 1, transforming growth factor-beta1, and BMI are closely associated in human adipose tissue during morbid obesity. | biomarker | {
"id": 7040,
"name": "TGFB1",
"pos": [
35,
32
]
} | {
"id": "C0028756",
"name": "Obesity, Morbid",
"pos": [
131,
14
]
} |
Genetic factors can influence antihypertensive response to metoprolol, and many studies focused on the relationship between the genotype in beta1-adrenergic receptor and blood pressure (BP), little was known about the association of angiotensin-converting enzyme (ACE) genotype with the therapeutic result of metoprolol. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
264,
3
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
170,
14
]
} |
Compared to healthy controls, ETA mRNA was 5-10-fold higher in ADPKD cystic kidney. | NA | {
"id": 1909,
"name": "EDNRA",
"pos": [
30,
3
]
} | {
"id": "C0022679",
"name": "Cystic kidney",
"pos": [
69,
13
]
} |
Clinical characteristics and results of EEG, computed tomography (CT), and magnetic resonance imaging (MRI) were evaluated in a family with autosomal dominantly inherited partial epilepsy with apparent incomplete penetrance. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
103,
3
]
} | {
"id": "C0014547",
"name": "Epilepsies, Partial",
"pos": [
171,
16
]
} |
The SPS-6 scores ≥9 and SIAS-6 scores ≥12 were considered indicative of social phobia and social interaction anxiety, respectively. | genomic_alterations | {
"id": 23590,
"name": "PDSS1",
"pos": [
4,
3
]
} | {
"id": "C0003467",
"name": "Anxiety",
"pos": [
109,
7
]
} |
In this study, we investigated the inflammatory role of MMP-9 and the ECM breakdown product hyaluronan as a trigger for the postoperative intestinal inflammatory response of postoperative ileus. | biomarker | {
"id": 4318,
"name": "MMP9",
"pos": [
56,
5
]
} | {
"id": "C1258215",
"name": "Ileus",
"pos": [
188,
5
]
} |
The expression of the lymphocyte adhesion molecules beta-1 integrin CD29, beta-2 integrin CD11b and L-selectin Leu8 (CD62L) was analyzed by cytofluorometry. | NA | {
"id": 3688,
"name": "ITGB1",
"pos": [
68,
4
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
33,
8
]
} |
Our meta-analysis suggested that the ACE I/D polymorphism was associated with increased risk of PCOS in Caucasians, but not in Asians. | genomic_alterations | {
"id": 1636,
"name": "ACE",
"pos": [
37,
5
]
} | {
"id": "C0032460",
"name": "Polycystic Ovary Syndrome",
"pos": [
96,
4
]
} |
Sez6l2 is a type 1 membrane protein that is highly expressed in the hippocampus and cerebellar cortex and mice lacking Sez6l2 protein family members develop ataxia. | biomarker | {
"id": 26470,
"name": "SEZ6L2",
"pos": [
119,
6
]
} | {
"id": "C0007758",
"name": "Cerebellar Ataxia",
"pos": [
157,
6
]
} |
We conducted a randomized crossover (five arms) double-blind placebo-controlled study in 10 healthy volunteers genotyped for CYP2D6. | NA | {
"id": 1565,
"name": "CYP2D6",
"pos": [
125,
6
]
} | {
"id": "C0456909",
"name": "Blindness",
"pos": [
55,
5
]
} |
Moreover, we validated two previously reported CpG sites (cg05886626 in THBS1, and cg24838345 in MTSS1) for their potential relation to atherosclerosis and cancer diseases, using several different approaches: CpG site methylation, gene expression, and plasma protein level determinations. | genomic_alterations | {
"id": 9788,
"name": "MTSS1",
"pos": [
97,
5
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
156,
6
]
} |
Association of single nucleotide polymorphisms in secreted frizzled-related protein 1 gene with bone mineral density in Japanese women. | NA | {
"id": 6422,
"name": "SFRP1",
"pos": [
50,
40
]
} | {
"id": "C0005938",
"name": "Bone Density",
"pos": [
96,
20
]
} |
TNF-alpha gene polymorphisms in position -238 and -308 were identified using a modified polymerase chain reaction-restriction fragment length polymorphism method in 53 patients with pemphigus (38 with pemphigus vulgaris, 15 with pemphigus foliaceus) and 87 healthy controls. | NA | {
"id": 378938,
"name": "MALAT1",
"pos": [
4,
10
]
} | {
"id": "C0030807",
"name": "Pemphigus",
"pos": [
182,
9
]
} |
Knockdown of SF-1 and RNF31 affects components of steroidogenesis, TGFβ, and Wnt/β-catenin signaling in adrenocortical carcinoma cells. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
67,
4
]
} | {
"id": "C0206686",
"name": "Adrenocortical carcinoma",
"pos": [
104,
24
]
} |
Our aim was to assess the impact of a monounsaturated fat-enriched (Mono) diet and a diet recommended by the National Cholesterol Education Program (NCEP) on plasma levels of fibrinogen and activities of factor VII (FVII:C) and plasminogen activator inhibitor-1 (PAI-1) and the impact of genetic polymorphisms of these variables (HaeIII, MspI, and 4G/5G polymorphisms, respectively) in 28 subjects with impaired glucose tolerance ([IGT] 17 men and 11 women; mean age, 55.6 +/- 5.5 years). | NA | {
"id": 2155,
"name": "F7",
"pos": [
204,
10
]
} | {
"id": "C0271650",
"name": "Impaired glucose tolerance",
"pos": [
403,
26
]
} |
Tumor necrosis factor-α-induced protein 8-like 2 (TIPE2), a new negative regulator of immunity, plays significant roles in modulating inflammation and tumorigenesis. | NA | {
"id": 25816,
"name": "TNFAIP8",
"pos": [
0,
41
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
151,
13
]
} |
The effect of 5-HTT gene promoter polymorphism on impulsivity depends on family relations in girls. | NA | {
"id": 3064,
"name": "HTT",
"pos": [
16,
8
]
} | {
"id": "C0021125",
"name": "Impulsive Behavior",
"pos": [
50,
11
]
} |
Additional genetic abnormalities involve breakpoints and deletion at the 3' end of the cyclin D1 gene, numerical chromosomal aberrations, mutations in p53, and deletions of p16. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
173,
3
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
113,
23
]
} |
Remarkably, plaque neovascularization was associated with increased NPY-ir in PRP in males but not females, suggesting that platelet NPY may be a novel mediator/marker of lesion vulnerability particularly in males, for reasons that remain to be determined. | NA | {
"id": 4852,
"name": "NPY",
"pos": [
133,
3
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
19,
18
]
} |
Here we review the plethora of studies that unraveled the association between PNPLA3 and NAFLD in children and adults, discuss its distinct effects on liver and metabolic traits, and introduce the term PNPLA3-associated steatohepatitis (PASH) as a novel gene-based liver disease. | NA | {
"id": 80339,
"name": "PNPLA3",
"pos": [
78,
6
]
} | {
"id": "C0232370",
"name": "Florid red complexion (finding)",
"pos": [
19,
8
]
} |
A core SMRT corepressor complex containing HDAC3 and TBL1, a WD40-repeat protein linked to deafness. | NA | {
"id": 6907,
"name": "TBL1X",
"pos": [
53,
4
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
91,
8
]
} |
Initially, these myeloid cells were identified as granulocytes or monocytes; however, MDSC derive from multipotent progenitor cells that can differentiate in the tissue as monocyte-derived MDSC (Mo-MDSC) with a phenotype CD14+/dull and granulocyte-derived MDSC (G-MDSC) expressing CD15 on cell surface. | NA | {
"id": 929,
"name": "CD14",
"pos": [
221,
4
]
} | {
"id": "C0278144",
"name": "Dull pain",
"pos": [
227,
4
]
} |
We report here the cytogenetic evolution of 52 cases of Philadelphia (Ph)-positive myelogenous leukemia (CML) receiving interferon-alpha (IFN-alpha) therapy compared with that of 59 Ph-positive CML cases treated with busulfan (BU) or hydroxyurea (HY). | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
138,
9
]
} | {
"id": "C0023470",
"name": "Myeloid Leukemia",
"pos": [
83,
20
]
} |
Although most PCCs and PGLs are thought to be sporadic, over one third are associated with 10 known susceptibility genes. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
23,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
46,
8
]
} |
Farnesoid X Receptor Activation Enhances Transforming Growth Factor β-Induced Epithelial-Mesenchymal Transition in Hepatocellular Carcinoma Cells. | biomarker | {
"id": 7045,
"name": "TGFBI",
"pos": [
41,
36
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
115,
24
]
} |
Furin (PCSK3) is one of the numerous target genes regulated by HIF-1α transactivation and its distribution into endosomal compartments and onto the cell surface can be triggered by hypoxia via HIF-1α. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
193,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
181,
7
]
} |
Here, we have analyzed the expression, during EC senescence, of 2 different isoforms (L, long; S, short) of endoglin, an auxiliary transforming growth factor (TGF)-beta receptor involved in vascular remodeling and angiogenesis. | NA | {
"id": 2022,
"name": "ENG",
"pos": [
108,
8
]
} | {
"id": "C3850148",
"name": "Vascular Remodeling",
"pos": [
190,
19
]
} |
These results suggest that TRAIL(+) and DcR2(+) metastatic carcinoma from malignant ascites could not only have resistance to DR4/DR5-induced apoptosis, but also might take the TRAIL-mediated counterattack against activated CD3(+) T cells. | NA | {
"id": 8797,
"name": "TNFRSF10A",
"pos": [
126,
3
]
} | {
"id": "C1384494",
"name": "Metastatic Carcinoma",
"pos": [
48,
20
]
} |
We have observed that MITF expression is potently reduced under hypoxic conditions in primary melanocytes and melanoma and clear cell sarcoma cells through hypoxia inducible factor 1 (HIF1)-mediated induction of the transcriptional repressor differentially expressed in chondrocytes protein 1 (DEC1) (BHLHE40), which subsequently binds and suppresses the promoter of M-MITF (melanocyte-restricted MITF isoform). | NA | {
"id": 8553,
"name": "BHLHE40",
"pos": [
301,
7
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
64,
7
]
} |
Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss. | genomic_alterations | {
"id": 374462,
"name": "PTPRQ",
"pos": [
6,
5
]
} | {
"id": "C0339789",
"name": "Congenital deafness",
"pos": [
42,
23
]
} |
The impaired expression of VCY2 in infertile men suggests its involvement in the pathogenesis of male infertility. | NA | {
"id": 9083,
"name": "BPY2",
"pos": [
27,
4
]
} | {
"id": "C0021359",
"name": "Infertility",
"pos": [
35,
9
]
} |
Interleukin-6 (IL-6) is a multifunctional cytokine whose role in osteoclastic bone resorption has not been clearly defined. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
15,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
78,
15
]
} |
We have isolated a novel gene, LDOC1, which encodes for a leucine zipper protein that was downregulated in a series of human pancreatic cancer cell lines but was expressed in corresponding normal tissues. | NA | {
"id": 23641,
"name": "LDOC1",
"pos": [
31,
5
]
} | {
"id": "C0235974",
"name": "Pancreatic carcinoma",
"pos": [
125,
17
]
} |
Genomic DNA from 202 patients with Crohn's disease (CD) and 206 healthy controls was analyzed for the C385A polymorphism in the FAAH gene to address a possible role in humans. | genomic_alterations | {
"id": 2166,
"name": "FAAH",
"pos": [
128,
4
]
} | {
"id": "C0010346",
"name": "Crohn Disease",
"pos": [
35,
15
]
} |
Disease pathology is believed to be a consequence of chromosome instability because of telomerase deficiency due to mutations in DKC1, TERC and TERT; in patients with DKC1 mutations, defects in ribosomal RNA modification, ribosome biogenesis, translation control or mRNA splicing may also contribute to disease pathogenesis. | NA | {
"id": 7012,
"name": "TERC",
"pos": [
135,
4
]
} | {
"id": "C1257806",
"name": "Chromosomal Instability",
"pos": [
53,
22
]
} |
Mitochondrial haplogroups and hemochromatosis gene (HFE) polymorphisms have been associated with ART-induced neuropathy. | NA | {
"id": 181,
"name": "AGRP",
"pos": [
97,
3
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
109,
10
]
} |
The meta-analysis also revealed a second significant independent signal at <i>HLA-DQA1*01:01</i> (OR<sub>meta</sub> = 1.33, <i>P</i><sub>meta</sub> = 1.2 × 10<sup>-3</sup>), and a third suggestive association at <i>HLA-DQB1*0302</i> (OR<sub>meta</sub> = 0.73, <i>P</i><sub>meta</sub> = 6.4 × 10<sup>-3</sup>).<b>Conclusions:</b> Multiple independent HLA class II alleles may influence osteosarcoma risk.<b>Impact:</b> Additional work is needed to extend our observations to other patient populations and to clarify the potential causal mechanisms underlying these associations. | genomic_alterations | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
84,
8
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
517,
12
]
} |
In the HPV-negative patients (n=221), heavy alcohol consumption was significantly associated with SCNAs of oncogenes/oncosuppressors that were previously reported to occur frequently in HNSCCs: CDKN2A (q=0.005), FHIT (q=0.005), 11q13 region including CCND1, FADD and CTTN (q=0.005), ERBB2 (HER2) (q=0.009), 3q25-qter including CCNL1, TP63, DCUN1D1 and PIK3CA (q=0.014), and CSMD1 (q=0.019). | NA | {
"id": 8626,
"name": "TP63",
"pos": [
334,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
44,
19
]
} |
Next, we explored the therapeutic effects of int6 siRNA injected into the adductor magnus muscle on IC. | therapeutic | {
"id": 3646,
"name": "EIF3E",
"pos": [
45,
4
]
} | {
"id": "C0021775",
"name": "Intermittent Claudication",
"pos": [
100,
2
]
} |
In the present study, we conducted an immunohistochemical evaluation of PLAG1 and a reverse transcription-polymerase chain reaction (RT-PCR) assay to detect fusion gene transcripts associated with pleomorphic adenoma, including the CTNNB1-PLAG1, LIFR-PLAG1, CHCHD7-PLAG1, TCEA1-PLAG1, HMGA2-FHIT, HMGA2-NFIB, and HMGA2-WIF1 fusion transcripts; this was performed using formalin-fixed paraffin-embedded tumor tissue specimens of 16 cutaneous mixed tumors including one sample with an adenocarcinoma component. | NA | {
"id": 6917,
"name": "TCEA1",
"pos": [
272,
5
]
} | {
"id": "C0001418",
"name": "Adenocarcinoma",
"pos": [
483,
14
]
} |
We have recently identified a novel mechanism of eNOS uncoupling by which AAA develops, in angiotensin II (Ang II) infused hyperphenylalaninemia 1 (hph-1) mice. | genomic_alterations | {
"id": 1911,
"name": "PHC1",
"pos": [
148,
5
]
} | {
"id": "C0751435",
"name": "Hyperphenylalaninaemia",
"pos": [
123,
21
]
} |
To test this hypothesis, we examined the gene responsible for 1 form of autosomal recessive osteopetrosis, TCIRG1, which encodes an osteoclast-specific subunit (OC116) of the vacuolar proton pump. | NA | {
"id": 479,
"name": "ATP12A",
"pos": [
184,
11
]
} | {
"id": "C4272578",
"name": "Autosomal Recessive Osteopetrosis",
"pos": [
72,
33
]
} |
The relationship between expression levels and the established prognostic factors such as age, cytogenetic aberrations, CD34 expression and FAB subtypes was investigated. | NA | {
"id": 947,
"name": "CD34",
"pos": [
120,
4
]
} | {
"id": "C0008625",
"name": "Chromosome Aberrations",
"pos": [
95,
23
]
} |
HBD-3 showed characteristic intracellular accumulations near deposits of β-amyloid, LC3 and TLR3 in sIBM, and was detected in inflammatory infiltrations and macrophages invading necrotic muscle fibres in both IIM. | NA | {
"id": 84557,
"name": "MAP1LC3A",
"pos": [
84,
3
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
75,
7
]
} |
A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes. | biomarker | {
"id": 60495,
"name": "HPSE2",
"pos": [
133,
3
]
} | {
"id": "C0300948",
"name": "Caudal Regression Syndrome",
"pos": [
140,
17
]
} |
Our comprehensive screening suggested that population-specific FLG mutations may be a significant predisposing factor for hay fever (odds ratio = 2.01 [95% CI: 1.027-3.936, P < 0.05]), although the sample sizes of this study were too small for reliable subphenotype analysis on the association between FLG mutations and hay fever in the eczema patients and the noneczema individuals, and it is not clear whether the association between FLG mutations and hay fever is due to the close association between FLG mutations and hay fever patients with eczema. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
504,
3
]
} | {
"id": "C0013595",
"name": "Eczema",
"pos": [
546,
6
]
} |
In this study, we tested the hypothesis that single-nucleotide polymorphisms in genes encoding IL13 and IL18 occur at an increased frequency in NRL allergic patients with spina bifida (SB) or bladder exstrophy (BE). | NA | {
"id": 4901,
"name": "NRL",
"pos": [
144,
3
]
} | {
"id": "C0005689",
"name": "Bladder Exstrophy",
"pos": [
192,
17
]
} |
There results thus underscore the functional importance of the -286 mutation of CRP in tumorigenesis and imply an interaction between CRP and Wnt signaling pathway. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
134,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
87,
13
]
} |
Depending on age, affected members showed varying degrees of significant visual acuity loss, elevated dark-adaptation thresholds, significantly reduced cone and rod electroretinogram (ERG) amplitudes, and progressive constriction of the visual fields, in most cases leading to complete blindness. | NA | {
"id": 2078,
"name": "ERG",
"pos": [
184,
3
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
217,
12
]
} |
By HE staining, a lot of necrotic tissues could be observed in the siRNA against XIAP transfected group, however, there was no similar inhibitive effect in the control siRNA or blank plasmid group. | NA | {
"id": 331,
"name": "XIAP",
"pos": [
81,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
25,
8
]
} |
Integrating the classification of personality disorder with the FFM brings to an understanding of the personality disorders a considerable body of scientific research on childhood antecedents. | NA | {
"id": 24,
"name": "ABCA4",
"pos": [
64,
3
]
} | {
"id": "C0031212",
"name": "Personality Disorders",
"pos": [
102,
21
]
} |
The current findings indicated that differential expression of adhesion and ECM molecules, such as CD166, versican, perlecan, and Col4A2, may interfere with cartilaginous differentiation. | NA | {
"id": 1284,
"name": "COL4A2",
"pos": [
130,
6
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
63,
8
]
} |
Participants with high CRP, eosinophil count <2%, hypoalbuminemia and hypovitaminosis D had worse baseline FEV1 and subsequently higher mortality compared to controls. | biomarker | {
"id": 1401,
"name": "CRP",
"pos": [
23,
3
]
} | {
"id": "C0035579",
"name": "Rickets",
"pos": [
73,
17
]
} |
The levels of various chemokines (MIP-1α, MCP-1, IL-8 and IP-10) and chemokine receptors (CXCR1, CXCR2 and CCR1) in neutrophils from healthy individuals and pulmonary tuberculosis patients were studied following infection with Mycobacterium tuberculosis strains (clinical--S7 and S10 and laboratory--H37Rv). | NA | {
"id": 1230,
"name": "CCR1",
"pos": [
107,
4
]
} | {
"id": "C0041327",
"name": "Tuberculosis, Pulmonary",
"pos": [
157,
22
]
} |
The introduction of small-hairpin RNA against EVI1 (shEVI1) into EVI1(high) leukemia cells reduced the cell adhesion ability and downregulated the expression of ITGA6 and ITGB4. | NA | {
"id": 3691,
"name": "ITGB4",
"pos": [
171,
5
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
76,
8
]
} |
Three CCR5-+/+ seroconverters who showed the uncommon pattern of early SI virus and rapid CD4 decline had uniformly high viral load and more heterogeneous coreceptor usage. | NA | {
"id": 920,
"name": "CD4",
"pos": [
90,
3
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
121,
10
]
} |
Full length Sp3 accumulation highlights bypass of tumour cell apoptotic capacities and is indicative of head and neck tumours aggressiveness. | NA | {
"id": 6670,
"name": "SP3",
"pos": [
12,
3
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
126,
14
]
} |
Further, inhibition of autophagy or genetic ablation of Ido1 or Gcn2 converted Ab-induced, self-limiting nephritis to fatal end-stage renal disease. | NA | {
"id": 3620,
"name": "IDO1",
"pos": [
56,
4
]
} | {
"id": "C0022661",
"name": "Kidney Failure, Chronic",
"pos": [
124,
23
]
} |
The chemokine receptor CCR7 mediates lymphoid dissemination of many cancers, including lymphomas and epithelial carcinomas, thus representing an attractive therapeutic target. | NA | {
"id": 1236,
"name": "CCR7",
"pos": [
23,
4
]
} | {
"id": "C0007097",
"name": "Carcinoma",
"pos": [
112,
10
]
} |
Our data suggest that IL-6 produced by osteosarcoma cells does not play an important role in bone formation, but may mediate osteoclastic bone resorption. | NA | {
"id": 3569,
"name": "IL6",
"pos": [
22,
4
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
138,
15
]
} |
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