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Taken together, the present results indicate that fibroblasts express functional CD40 and suggest a possible role of CD40 L expressing cells, such as activated T cells and mast cells, in the development of synovium hyperplasia. | NA | {
"id": 958,
"name": "CD40",
"pos": [
117,
4
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
215,
11
]
} |
IL-18 also increased the ratio of RANKL/OPG, suggesting that the net effect of IL-18 on FLS favors for the induction of osteoclast formation and bone resorption. | NA | {
"id": 690,
"name": "BTF3P11",
"pos": [
40,
3
]
} | {
"id": "C0005974",
"name": "Bone Resorption",
"pos": [
145,
15
]
} |
Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is characterized by cardiac conduction abnormalities and left ventricular systolic dysfunction predisposing to heart failure. | genomic_alterations | {
"id": 4000,
"name": "LMNA",
"pos": [
25,
9
]
} | {
"id": "C0018801",
"name": "Heart failure",
"pos": [
212,
13
]
} |
YC-1 inhibits HIF-1α and HIF-1α-mediated gene expression, cell proliferation and migration activity and induces apoptosis in hypoxic BTCC. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
25,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
125,
7
]
} |
We report on two patients with a severe form of spondyloepimetaphyseal dysplasia (SEMD). | NA | {
"id": 10371,
"name": "SEMA3A",
"pos": [
82,
4
]
} | {
"id": "C0432211",
"name": "Spondyloepimetaphyseal disorder",
"pos": [
48,
32
]
} |
It has become apparent through immunohistochemical, ultrastructural, and microarray analyses that CCS is a soft tissue melanocytic neoplasm. | NA | {
"id": 9973,
"name": "CCS",
"pos": [
98,
3
]
} | {
"id": "C1302746",
"name": "Melanocytic neoplasm",
"pos": [
119,
20
]
} |
Disrupted-In-Schizophrenia 1 (DISC1) was identified as a novel gene disrupted by a (1;11)(q42.1;q14.3) translocation that segregated with major mental disorders in a Scottish family. | NA | {
"id": 27185,
"name": "DISC1",
"pos": [
30,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
103,
13
]
} |
There have been 37 leukemia cell lines carrying 11q23 translocation and MLL rearrangements; however, cell lines harboring with t(1;11)(p32;q23) have not been established. | NA | {
"id": 708,
"name": "C1QBP",
"pos": [
135,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
54,
13
]
} |
New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia. | NA | {
"id": 2539,
"name": "G6PD",
"pos": [
4,
33
]
} | {
"id": "C0581384",
"name": "Chronic anemia",
"pos": [
64,
14
]
} |
Tumor mismatch repair deficiency (MMR-D) and BRAF c.1799T > A (p.V600E) mutation status were also examined. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
45,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
0,
5
]
} |
We investigated the effects of TNFα, IL-17A and IL-23p19 inhibition on Tregs in imiquimod-induced psoriasiform dermatitis. | biomarker | {
"id": 51561,
"name": "IL23A",
"pos": [
48,
8
]
} | {
"id": "C0262985",
"name": "Psoriasiform eczema",
"pos": [
98,
23
]
} |
Our results underscore the importance of the zinc-binding domains of p53 with respect to clinical prognosis for patients with esophageal carcinomas. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
69,
3
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
126,
10
]
} |
Injection of CXCR4(+) BMCs in mice after induction of hindlimb ischemia significantly improved the recovery of perfusion compared to injection of CXCR4(-) BMCs. | NA | {
"id": 7852,
"name": "CXCR4",
"pos": [
146,
5
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
63,
8
]
} |
Conversely, maternal HLA-DQB1*0602 carried on HLA-DR2 haplotypes was associated with CHB but not cutaneous NLE; (ii) HLA-DQA1 alleles with glutamine at position 34 of the first domain, which have reportedly been associated with the autoimmune responses to Ro/SSA antigens in other ethnic groups, were increased in the mothers of infants with cutaneous involvement; and (iii) there was no particular class II HLA profile that distinguished the disease manifestations in infants. | genomic_alterations | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
117,
8
]
} | {
"id": "C0151517",
"name": "Complete atrioventricular block",
"pos": [
85,
3
]
} |
To determine whether inactivation of the APC gene plays a role in development of HBL, 13 sporadic infantile hepatic tumors were analyzed for genetic alterations in the APC gene. | NA | {
"id": 324,
"name": "APC",
"pos": [
168,
8
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
89,
8
]
} |
In conclusion, mutations within the homeobox sequence and the adjacent coding sequence of PITX2 lead to various Rieger syndrome phenotypes characterized by a high incidence of glaucoma. | genomic_alterations | {
"id": 5308,
"name": "PITX2",
"pos": [
90,
5
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
176,
8
]
} |
SH01-MSC treatment of Hmox1(KO) animals, which develop right ventricular (RV) infarction under prolonged hypoxia, resulted in normal RV systolic pressure, significant reduction of RV hypertrophy and prevention of RV infarction. | NA | {
"id": 9242,
"name": "MSC",
"pos": [
5,
3
]
} | {
"id": "C0871470",
"name": "Systolic Pressure",
"pos": [
136,
17
]
} |
Simvastatin reduces OX40 and OX40 ligand expression in human peripheral blood mononuclear cells and in patients with atherosclerotic cerebral infarction. | NA | {
"id": 7293,
"name": "TNFRSF4",
"pos": [
20,
4
]
} | {
"id": "C0007785",
"name": "Cerebral Infarction",
"pos": [
133,
19
]
} |
In this paper, we examined LAK activity against the autologous skin tumors, malignant melanoma (MM), squamous cell carcinoma (SCC), and basal cell epithelioma (BCE), which have distinct clinical characteristics. | NA | {
"id": 80216,
"name": "ALPK1",
"pos": [
27,
3
]
} | {
"id": "C0037286",
"name": "Skin Neoplasms",
"pos": [
63,
11
]
} |
Repeat analysis of a subset of cases showed FISH to be a more reproducible method than ICC in the analysis of HER-2/neu in touch preparations of breast carcinoma. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
44,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
145,
16
]
} |
The microsomal triglyceride transfer protein gene-493T variant lowers cholesterol but increases the risk of coronary heart disease. | genomic_alterations | {
"id": 4547,
"name": "MTTP",
"pos": [
4,
40
]
} | {
"id": "C1956346",
"name": "Coronary Artery Disease",
"pos": [
108,
22
]
} |
This is in marked contrast with the reported impaired levels of SMN in spinal muscular atrophy, a single inherited neuromuscular disorder characterized by mutations in the smn gene whereas OA is a complex disease with multiple aetiologies. | genomic_alterations | {
"id": 6606,
"name": "SMN1",
"pos": [
172,
3
]
} | {
"id": "C0029408",
"name": "Degenerative polyarthritis",
"pos": [
189,
2
]
} |
The recurring translocation t(11;16)(q23;p13.3) has been documented only in cases of acute leukemia or myelodysplasia secondary to therapy with drugs targeting DNA topoisomerase II. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
41,
3
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
103,
14
]
} |
It has been shown that oncoprotein p28(GANK), which is consistently overexpressed in human hepatocellular carcinoma (HCC), plays a critical role in tumorigenesis of HCC. | NA | {
"id": 7802,
"name": "DNALI1",
"pos": [
35,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
148,
13
]
} |
Twelve liver dysfunction patients were positive by all three tests, six were positive by ELISA and RT PCR but had indeterminate RIBA-2, one was positive by ELISA and RIBA but negative by RT PCR, and one was positive only by RT PCR. | NA | {
"id": 6014,
"name": "RIT2",
"pos": [
166,
4
]
} | {
"id": "C0086565",
"name": "Liver Dysfunction",
"pos": [
7,
17
]
} |
A total of 97 SAG isolates recovered from 30 patients were included; 65 (67.0%) of the isolates were abscess related. | NA | {
"id": 9616,
"name": "RNF7",
"pos": [
14,
3
]
} | {
"id": "C0000833",
"name": "Abscess",
"pos": [
101,
7
]
} |
Thus, we conclude that TGF-β1 and hypoxia ensure tumor cell survival and growth through expression of MKP-1. | NA | {
"id": 1843,
"name": "DUSP1",
"pos": [
102,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
34,
7
]
} |
The alpha 2-globin gene from a patient with alpha thalassemia contains a pentanucleotide deletion in intron 1 immediately adjacent to exon 1. | genomic_alterations | {
"id": 3039,
"name": "HBA1",
"pos": [
4,
14
]
} | {
"id": "C1456873",
"name": "alpha^+^ Thalassemia",
"pos": [
44,
17
]
} |
Combinations of tumor morphology with p16(INK4a) immunohistochemistry or with HR-HPV ISH performed similarly well. | genomic_alterations | {
"id": 1029,
"name": "CDKN2A",
"pos": [
42,
5
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
16,
5
]
} |
We also found biallelic EIF2AK4 mutations in 5 of 20 histologically confirmed sporadic cases of PVOD. | NA | {
"id": 440275,
"name": "EIF2AK4",
"pos": [
24,
7
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
78,
8
]
} |
In differentiated-type gastric carcinoma, the presence of the cytoplasmic- or stromal-type localization of MY.1E12-MUC1 at the deepest invading sites correlates with aggressiveness of the disease, such as the tendency to form liver metastasis. | NA | {
"id": 4582,
"name": "MUC1",
"pos": [
115,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
166,
14
]
} |
We show that deletion of either TNFR1 or TNFR2 leads to an antidepressant-like response in the forced swim test and that mice lacking TNFR2 demonstrate a hedonic response in a sucrose drinking test compared with wildtype littermates. | NA | {
"id": 7133,
"name": "TNFRSF1B",
"pos": [
134,
5
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
184,
8
]
} |
We encountered a child with holoprosencephaly, pulmonary insufficiency, absent circulating vitamin D metabolites, mild albuminuria, and urinary excretion of vitamin D-binding protein. | NA | {
"id": 2638,
"name": "GC",
"pos": [
157,
25
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
114,
4
]
} |
When dnj-27 expression is downregulated by RNA interference we find an increase in the aggregation and associated pathological phenotypes (paralysis and motility impairment) caused by human β-amyloid peptide (Aβ), α-synuclein (α-syn) and polyglutamine (polyQ) proteins. | NA | {
"id": 6622,
"name": "SNCA",
"pos": [
214,
11
]
} | {
"id": "C0522224",
"name": "Paralysed",
"pos": [
139,
9
]
} |
The cells reacted with monoclonal antibodies anti-Leu-7 and anti-Leu-M1 but did not react with antibodies to human lymphocyte antigens (HLA)-A, HLA-B, and HLA-C. Cytogenetic analysis revealed the presence of 3 chromosomally abnormal cell lines with the majority of metaphase cells demonstrating a gain of an isochromosome of the short arm of chromosome 5. | NA | {
"id": 3106,
"name": "HLA-B",
"pos": [
144,
5
]
} | {
"id": "C0242621",
"name": "Isochromosomes",
"pos": [
308,
13
]
} |
It has been postulated that oncogenes such as MYC may have regulatory effects on genes critical to melanin pigment synthesis, specifically microphthalmia-associated transcription factor (MITF), which is known to have a key role in regulating the expression of tyrosinase (TYR), an important enzyme in the production of melanin pigment. | NA | {
"id": 7299,
"name": "TYR",
"pos": [
272,
3
]
} | {
"id": "C0031911",
"name": "Pigmentation",
"pos": [
327,
7
]
} |
In keeping with these conclusions, we show that hTRA2-beta1 can specifically bind a 'GAAG' motif in Cyr61 exon 3 RNA, that the splicing factor displays acidosis-dependent protein localization in cellular compartments, and shRNA-mediated hTRA2-beta1 knock-down triggers the same effects on Cyr61 alternative splicing like acidosis or hypoxia. | NA | {
"id": 3491,
"name": "CCN1",
"pos": [
289,
5
]
} | {
"id": "C0001122",
"name": "Acidosis",
"pos": [
321,
8
]
} |
Our findings imply that siRNA interference against RPL26 and RPL29 is of potential value for intervention of pancreatic cancer. | biomarker | {
"id": 6159,
"name": "RPL29",
"pos": [
61,
5
]
} | {
"id": "C0346647",
"name": "Malignant neoplasm of pancreas",
"pos": [
109,
17
]
} |
Karyotypic abnormalities and trisomy 8 and trisomy 1q FISH abnormalities were found more frequently in h-MDS patients than in AA patients. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
54,
4
]
} | {
"id": "C0041107",
"name": "Trisomy",
"pos": [
43,
7
]
} |
Therefore, for patients with chronic renal disease under medication with amiodarone, early regular thyroid function test should be checked in order to avoid amiodarone-induced hypothyroidism and EPO-resistant anemia. | NA | {
"id": 2056,
"name": "EPO",
"pos": [
195,
3
]
} | {
"id": "C0020676",
"name": "Hypothyroidism",
"pos": [
176,
14
]
} |
Breast cancers with a TP53 mutation were repeatedly shown to have a poor outcome, but whether this reflects poor response to treatment or greater intrinsic aggressiveness of the tumor is unknown. | NA | {
"id": 7157,
"name": "TP53",
"pos": [
22,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
156,
14
]
} |
Molecular abnormalities in liposarcoma: role of MDM2 and CDK4-containing amplicons at 12q13-22. | NA | {
"id": 4193,
"name": "MDM2",
"pos": [
48,
4
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
10,
13
]
} |
Partial versus productive immunoglobulin heavy locus rearrangements in chronic lymphocytic leukemia: implications for B-cell receptor stereotypy. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
26,
26
]
} | {
"id": "C0038271",
"name": "Stereotyped Behavior",
"pos": [
134,
10
]
} |
Of the 60 patients with Turner's syndrome 18 (30%) were positive for either thyroid peroxidase (TPO) and/or thyroglobulin antibodies. | biomarker | {
"id": 7038,
"name": "TG",
"pos": [
108,
13
]
} | {
"id": "C0041408",
"name": "Turner Syndrome",
"pos": [
24,
17
]
} |
The aim was to assess the contribution of FLG null-alleles to pediatric IBD susceptibility and to coexistent atopy (eczema, asthma, allergic rhinitis, or food allergy). | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
42,
3
]
} | {
"id": "C0013595",
"name": "Eczema",
"pos": [
116,
6
]
} |
The aim of this study was to quantify the magnitude of the risk associated with the TaqI, BsmI, ApaI and FokI VDR polymorphisms in MS using a meta-analysis approach. | genomic_alterations | {
"id": 7421,
"name": "VDR",
"pos": [
110,
3
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
131,
2
]
} |
These reductions were prevented by HSP-inducing pretreatments: mild heat shock, geranylgeranylacetone (GGA), and transfection with human HSP27 or the phosphorylation-mimicking HSP27-DDD. | NA | {
"id": 3315,
"name": "HSPB1",
"pos": [
176,
5
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
63,
4
]
} |
The present studies were carried out to find similarities, if any, between atherosclerosis patients and AT homozygotes or heterozygotes (ATHs) in their cellular/molecular response to ionizing radiation, which acts as a carcinogen as well as an atherogen. | NA | {
"id": 470,
"name": "ATHS",
"pos": [
137,
4
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
75,
15
]
} |
In our study, we assessed the expression of DEC1 in 1p aberrant oligodendroglial neoplasms and its association with necrosis and expression of hypoxia-inducible factor 1alpha (HIF-1alpha), carbonic anhydrase-9 (CA9), and vascular endothelial growth factor-mRNA (VEGF). | NA | {
"id": 768,
"name": "CA9",
"pos": [
211,
3
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
116,
8
]
} |
Disorientation, agitation and motor disorders were slightly more frequent in patients with APOE-4/4, while anxiety and sleep disorders appeared more frequently in APOE-3/4. | NA | {
"id": 348,
"name": "APOE",
"pos": [
163,
4
]
} | {
"id": "C0221163",
"name": "Motor Disorders",
"pos": [
30,
15
]
} |
The deletion or point-mutation of the C-terminal domain blunted the hypoxic induction of HIF-1alpha. | NA | {
"id": 3091,
"name": "HIF1A",
"pos": [
89,
10
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
68,
7
]
} |
We further showed that IGFBP5 prompted the anti-inflammation effect of MSCs via negative regulation of NFκB signaling. | NA | {
"id": 3488,
"name": "IGFBP5",
"pos": [
23,
6
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
48,
12
]
} |
In addition, TRAIL and RANKL plasma concentrations were positively correlated to HIV-1-RNA viral load. | NA | {
"id": 8743,
"name": "TNFSF10",
"pos": [
13,
5
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
91,
10
]
} |
Laboratory analysis of tumors from East Asian patients revealed significant differences between GC (n = 79) and CRC (n = 116) for the frequencies of PIK3CA amplification (46% vs. 4%) and PTEN loss (54% vs. 78%). | genomic_alterations | {
"id": 5728,
"name": "PTEN",
"pos": [
187,
4
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
96,
2
]
} |
Microsatellite analysis and direct sequencing were used to establish the incidence of microsatellite instability, KLF6 and TP53 allelic imbalance, and KLF6, K-RAS, TP53, and APC mutation. | NA | {
"id": 1316,
"name": "KLF6",
"pos": [
151,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
86,
26
]
} |
These unusual areas of thin, erythematous wrinkled skin differ from the discrete cervical pits, cysts, and fistulas of the branchio-oto-renal (BOR) syndrome (MIM 113650). | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
158,
3
]
} | {
"id": "C0037301",
"name": "Skin Wrinkling",
"pos": [
42,
13
]
} |
Comparison of HCV sequences from Asia and Europe suggests that the frequency of the HLA-A*01 allele in a population may influence the frequency of the escape variant in circulating strains. | genomic_alterations | {
"id": 3105,
"name": "HLA-A",
"pos": [
84,
5
]
} | {
"id": "C0019196",
"name": "Hepatitis C",
"pos": [
14,
3
]
} |
The present study characterizes how the APOE ε4 allele and MCI status affect the brain's functional organization by analyzing the FC patterns in MEG resting state in the sources space. | genomic_alterations | {
"id": 348,
"name": "APOE",
"pos": [
40,
4
]
} | {
"id": "C1270972",
"name": "Mild cognitive disorder",
"pos": [
59,
3
]
} |
EGF-induced integrin beta1 phosphorylation was dampened, consistent with defects in adhesion. | NA | {
"id": 1950,
"name": "EGF",
"pos": [
0,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
84,
8
]
} |
In conclusion, the present study identifies for the first time the activators of FXR as important regulators of androgen metabolism in human prostate cancer cells. | NA | {
"id": 9971,
"name": "NR1H4",
"pos": [
81,
3
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
141,
15
]
} |
Lower expression of the SMARCA2 paralog was associated with cellular sensitivity to EZH2 inhibition in SMARCA4 mutant cancer models, independent of tissue derivation. | genomic_alterations | {
"id": 2146,
"name": "EZH2",
"pos": [
84,
4
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
118,
6
]
} |
Effects of ischemia and H2O2 on the cold stress protein CIRP expression in rat neuronal cells. | NA | {
"id": 1153,
"name": "CIRBP",
"pos": [
56,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
11,
8
]
} |
These findings indicate that nm23-H6, and particularly nm23-H4 and -H7, may be involved in the development of colon and gastric carcinoma, the latter possibly in a type-specific manner. | NA | {
"id": 4833,
"name": "NME4",
"pos": [
55,
7
]
} | {
"id": "C0699791",
"name": "Stomach Carcinoma",
"pos": [
120,
17
]
} |
The fractalkine ligand/receptor (CX3CL1/CX3CR1) complex is important in inflammatory responses and has been associated with vascular disease. | NA | {
"id": 1524,
"name": "CX3CR1",
"pos": [
40,
6
]
} | {
"id": "C0042373",
"name": "Vascular Diseases",
"pos": [
124,
16
]
} |
Our PDE4D findings although non-significant considering the number of markers and phenotypes tested, are consistent with the association observed in the original study, with a trend observed in the whole ICVD group, which was strengthened in the stroke subtype LAA and the combined group of LAA and CE stroke. | biomarker | {
"id": 5144,
"name": "PDE4D",
"pos": [
4,
5
]
} | {
"id": "C4699508",
"name": "Cardioembolism (high-risk/medium-risk)",
"pos": [
299,
2
]
} |
A mutational analysis of the PFN1 gene was carried out on a Catalan cohort of 42 ALS families (FALS) and 423 sporadic ALS patients (SALS). | NA | {
"id": 5216,
"name": "PFN1",
"pos": [
29,
9
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
109,
8
]
} |
We conclude that the FZD6-fibronectin actin axis identified in our study could be exploited for drug development in highly metastatic forms of breast cancer, such as TNBC.© 2016 The Authors. | biomarker | {
"id": 60,
"name": "ACTB",
"pos": [
38,
5
]
} | {
"id": "C0006142",
"name": "Malignant neoplasm of breast",
"pos": [
143,
13
]
} |
Three of four paraganglioma syndromes (PGLs) have been characterized on a molecular genetic basis. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
39,
4
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
14,
13
]
} |
In conclusion, the G202A and R346W mutation causes deficient protein stability, and the R135C mutation does not affect stability but impairs the substrate-induced enzymatic activity, suggesting that impairment of DHODH activity is linked to the Miller syndrome phenotype. | genomic_alterations | {
"id": 1723,
"name": "DHODH",
"pos": [
213,
5
]
} | {
"id": "C0812435",
"name": "Chromosome 11p deletion syndrome",
"pos": [
245,
15
]
} |
It has been hypothesized that this reduction represents a developmental delay in reaching age-appropriate levels in P300 amplitude. | NA | {
"id": 2033,
"name": "EP300",
"pos": [
116,
4
]
} | {
"id": "C0424605",
"name": "Developmental delay (disorder)",
"pos": [
58,
19
]
} |
METHODS: Using real-time polymerase chain reaction (PCR), Western blotting, immunocytochemistry and immunohistochemistry, the expression of OCT4 in three esophageal squamous cancer cell lines, KYSE70, KYSE140 and KYSE450, was characterized. | NA | {
"id": 5460,
"name": "POU5F1",
"pos": [
140,
4
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
154,
10
]
} |
We evaluated the interaction of SOCS3 with STAT3 and NF-κB by transfecting the SOCS3 plasmid to hypoxic cultured H9c2 cells. | NA | {
"id": 9021,
"name": "SOCS3",
"pos": [
79,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
96,
7
]
} |
We further show that Glis3 interacts with the transcriptional modulator Wwtr1/TAZ, which itself has been implicated in glomerulocystic kidney disease. | NA | {
"id": 25937,
"name": "WWTR1",
"pos": [
78,
3
]
} | {
"id": "C4020705",
"name": "Glomerulocystic kidney disease",
"pos": [
119,
30
]
} |
Local dominance of Gal-3 and IL-10 over pro-inflammatory mediators in patients with MetS may present a mechanism for limiting the inflammatory process and subsequent tissue damage in UC. | biomarker | {
"id": 3958,
"name": "LGALS3",
"pos": [
19,
5
]
} | {
"id": "C0009324",
"name": "Ulcerative Colitis",
"pos": [
183,
2
]
} |
The activation of the downstream receptor pathways was also studied by means of v-akt murine thymoma viral oncogene homolog (AKT), extracellular signal-regulated kinase (ERK), and mammalian target of rapamycin (mTOR) Western blotting experiments, as well as rat sarcoma viral oncogene homolog (RAS), v-raf murine sarcoma viral oncogene homolog B1 (BRAF), phosphoinositide-3-kinase, catalytic, alpha polypeptide (PI3KCA), and phosphatase and tensin homolog deleted on chromosome ten (PTEN) mutational analysis and fluorescence in situ hybridization. | NA | {
"id": 2048,
"name": "EPHB2",
"pos": [
170,
3
]
} | {
"id": "C0040100",
"name": "Thymoma",
"pos": [
93,
7
]
} |
Small fiber neuropathy (SFN) is a disorder typically dominated by neuropathic pain and autonomic dysfunction, in which the thinly myelinated Aδ-fibers and unmyelinated C-fibers are selectively injured. | NA | {
"id": 25996,
"name": "REXO2",
"pos": [
24,
3
]
} | {
"id": "C0027796",
"name": "Neuralgia",
"pos": [
66,
16
]
} |
Our results, although obtained in a small series of cases, confirming the high molecular homology with human OS suggesting a potential role of miR-1 and miR-133b as biomarkers for canine OS treatment. | biomarker | {
"id": 442890,
"name": "MIR133B",
"pos": [
153,
8
]
} | {
"id": "C1332986",
"name": "Childhood Osteosarcoma",
"pos": [
109,
2
]
} |
The three-ring polycyclic aromatic hydrocarbons (PAHs) 3H-benz[e]indene (C<sub>13</sub>H<sub>10</sub>) and 1H-benz[f]indene (C<sub>13</sub>H<sub>10</sub>) along with their naphthalene-based isomers 2-(prop-2-yn-1-yl)naphthalene (C<sub>13</sub>H<sub>10</sub>), 2-(prop-1-yn-1-yl)naphthalene (C<sub>13</sub>H<sub>10</sub>), and 2-(propa-1,2-dien-1-yl)naphthalene (C<sub>13</sub>H<sub>10</sub>) were formed through a "directed synthesis"via a high temperature chemical micro reactor under combustion-like conditions (1300 ± 35 K) through the reactions of the 2-naphthyl isomer (C<sub>10</sub>H<sub>7</sub>˙) with allene (C<sub>3</sub>H<sub>4</sub>) and methylacetylene (C<sub>3</sub>H<sub>4</sub>). | genomic_alterations | {
"id": 5626,
"name": "PROP1",
"pos": [
335,
6
]
} | {
"id": "C0015967",
"name": "Fever",
"pos": [
560,
16
]
} |
HCT116 cells with RasGRF2 knockdown were injected into the tail vein in nude mice to yield metastatic model, and tumor metastasis was measured as well. | biomarker | {
"id": 5924,
"name": "RASGRF2",
"pos": [
18,
7
]
} | {
"id": "C2939419",
"name": "Secondary Neoplasm",
"pos": [
113,
16
]
} |
In HCC cells, MAT1A/MAT2A switch is associated with global DNA hypomethylation, decrease in DNA repair, genomic instability, and signaling deregulation including c-MYC overexpression, rise in polyamine synthesis, upregulation of RAS/ERK, IKK/NF-kB, PI3K/AKT, and LKB1/AMPK axis. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
3,
3
]
} | {
"id": "C0919532",
"name": "Genomic Instability",
"pos": [
104,
19
]
} |
Thus, our data indicate that OASL can be one of the decisive regulators to maintain lung cancer cell susceptibility to acRoots and may be associated with the development of drug resistance. | biomarker | {
"id": 8638,
"name": "OASL",
"pos": [
29,
4
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
84,
11
]
} |
Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by heterozygous mutations in the chloride channel 7 (ClCN7) gene. | genomic_alterations | {
"id": 1186,
"name": "CLCN7",
"pos": [
129,
5
]
} | {
"id": "C0005940",
"name": "Bone Diseases",
"pos": [
55,
13
]
} |
Expression of TNF-α, NGF, substance P-immunoreactive nerves and tachykinin NK1 receptors was enhanced, peaking at 28 h, 7 days, 14 days and 14 days after LPS inhalation, respectively. | NA | {
"id": 4803,
"name": "NGF",
"pos": [
21,
3
]
} | {
"id": "C0004048",
"name": "Inspiration function",
"pos": [
158,
10
]
} |
BCL2 rearrangements were present in seven cases (5 IGH@ rearranged, 1 IGH@-not rearranged, 1 IGH@-not evaluable), BCL6 rearrangement in two (1 also with BCL2/IGH@ rearrangement), +12 in 1, +MALT1 without +18 in 1, IGH@ rearrangement without other abnormalities in 1 and IGH@ rearranged or partially deleted in 1 case. | NA | {
"id": 3492,
"name": "IGH",
"pos": [
270,
3
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
247,
13
]
} |
Since then, several loss-of-function mutations affecting the kisspeptin receptor and neurokinin B and its receptor were associated with sporadic and familial IHH without olfactory abnormalities or other associated developmental alterations. | NA | {
"id": 3814,
"name": "KISS1",
"pos": [
61,
10
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
180,
13
]
} |
Transthyretin (TTR), the major transporter of thyroid hormones and vitamin A in cerebrospinal fluid (CSF), binds the Alzheimer beta-peptide and thus might confer protection against neurodegeneration. | NA | {
"id": 7276,
"name": "TTR",
"pos": [
15,
3
]
} | {
"id": "C0027746",
"name": "Nerve Degeneration",
"pos": [
181,
17
]
} |
Human parvovirus B19 (B19) infections exhibit various skin manifestations that are similar to and hence hard to distinguish from many other skin diseases. | NA | {
"id": 59271,
"name": "EVA1C",
"pos": [
22,
3
]
} | {
"id": "C0037285",
"name": "Skin Manifestations",
"pos": [
54,
19
]
} |
These gene variants encode the proinflammatory cytokine interleukin 6 (IL6 -572G>C; odds ratio [OR], 2.47), and 2 adhesion molecules: intercellular adhesion molecule-1 (ICAM1 Lys469Glu; OR, 1.88), and E-selectin (SELE 98G>T; OR, 0.16). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
71,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
114,
8
]
} |
The authors collected blood samples from 68 patients with familial CCM and 138 patients with apparently sporadic CCM as well as from their families, in an effort to characterize the prevalence and spectrum of disease-causing sequence variants in the KRIT1 gene. | NA | {
"id": 889,
"name": "KRIT1",
"pos": [
250,
10
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
104,
8
]
} |
SMC-selective deletion of BMAL1 potently protected mice from AAA induced by (1) MR (mineralocorticoid receptor) agonist deoxycorticosterone acetate or aldosterone plus high salt intake and (2) angiotensin II infusion in hypercholesterolemia mice. | biomarker | {
"id": 4306,
"name": "NR3C2",
"pos": [
84,
26
]
} | {
"id": "C0162871",
"name": "Aortic Aneurysm, Abdominal",
"pos": [
61,
3
]
} |
Our findings indicate that a set of chemokines composed of IP-10, MCP-1, RANTES, MIP-1alpha, and especially MIG contributes to the cytokine network and preferential trafficking of mononuclear cells to the interface region of lichen planus lesions. | NA | {
"id": 6347,
"name": "CCL2",
"pos": [
66,
5
]
} | {
"id": "C0023646",
"name": "Lichen Planus",
"pos": [
225,
13
]
} |
As other GPCR ligands act through transactivation of epidermal growth factor receptor (EGFR) via a matrix metalloproteinase (MMP) or Src kinase, we investigated whether EGFR transactivation is involved in the following three features of apelin-induced cardioprotection: limitation of infarct size, suppression of contracture and improvement of post-ischaemic contractile recovery. | biomarker | {
"id": 23566,
"name": "LPAR3",
"pos": [
9,
4
]
} | {
"id": "C0009917",
"name": "Contracture",
"pos": [
313,
11
]
} |
This study reveals an essential role of the Hippo-YAP pathway in Gq/11-induced tumorigenesis and suggests YAP as a potential drug target for UM patients carrying mutations in GNAQ or GNA11. | NA | {
"id": 2776,
"name": "GNAQ",
"pos": [
175,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
79,
13
]
} |
Automate immunohistochemistry (IHC) with anti-ezrin, alpha-smooth muscle actin and CD44H antibodies was performed in 66 specimens: 37 biopsies before chemotherapy, 16 resected tumours of "poor" responders and 13 metastases. | NA | {
"id": 70,
"name": "ACTC1",
"pos": [
59,
19
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
212,
10
]
} |
CONCLUSIONS: This is the first time a haplotype on chromosome 12 containing sequence variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A has been linked to an inherited neuropathy in humans. | NA | {
"id": 10540,
"name": "DCTN2",
"pos": [
107,
5
]
} | {
"id": "C0442874",
"name": "Neuropathy",
"pos": [
171,
10
]
} |
Given the addiction of cancer cells to the elevated MAP2K1 activity for proliferation, human cancers with such MAP2K1 mutations are suitable targets for the treatment with MAP2K1 inhibitors. | NA | {
"id": 5604,
"name": "MAP2K1",
"pos": [
172,
6
]
} | {
"id": "C0085281",
"name": "Addictive Behavior",
"pos": [
10,
9
]
} |
Four days after reperfusion, both motor and proprioception functions were assessed and then all rats were sacrificed for determination of brain infarct volume (2, 3, 5-triphenyltetrazolium chloride staining), apoptosis (TUNEL staining), edema (both cerebral water content and amounts of aquaporin-4 positive cells), gliosis (glial fibrillary acidic protein [GFAP]-positive cells), and neurotoxicity (inducible nitric oxide synthase [iNOS] expression). | NA | {
"id": 2670,
"name": "GFAP",
"pos": [
358,
4
]
} | {
"id": "C0013604",
"name": "Edema",
"pos": [
237,
5
]
} |
Repeated measures ANOVA with the last observation carry-forward test indicated that after adjusting for baseline body weight, age, and gender, the subjects with the C/C genotype exhibited a greater mean body weight gain than the subjects with the C/G or G/G genotype after 8 weeks of mirtazapine treatment (p=0.052). | NA | {
"id": 4858,
"name": "NOVA2",
"pos": [
18,
5
]
} | {
"id": "C0043094",
"name": "Weight Gain",
"pos": [
203,
16
]
} |
Organ of Zuckerkandl paragangliomas (PGLs) are rare neuroendocrine tumors that are derived from chromaffin cells located around the origin of the inferior mesenteric artery extending to the level of the aortic bifurcation. | NA | {
"id": 25796,
"name": "PGLS",
"pos": [
37,
4
]
} | {
"id": "C0030421",
"name": "Paraganglioma",
"pos": [
21,
14
]
} |
The study groups included asymptomatic carriers (ASC) and patients with chronic active hepatitis (CAH) and HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
107,
3
]
} | {
"id": "C0520463",
"name": "Chronic active hepatitis",
"pos": [
72,
24
]
} |