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This is the first study replicating the association of ACYP2 variant rs1872328 with cisplatin-induced ototoxicity in patients with osteosarcoma who did not receive potentially ototoxic cranial irradiation. | NA | {
"id": 98,
"name": "ACYP2",
"pos": [
55,
5
]
} | {
"id": "C0235280",
"name": "Ototoxicity",
"pos": [
102,
11
]
} |
To identify potential novel markers for PTL, we have used commercial cDNA arrays to generate profiles of differential expression of inflammation-associated genes in gestational membranes with term and PTL. | NA | {
"id": 30,
"name": "ACAA1",
"pos": [
201,
3
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
132,
12
]
} |
Polymorphism of complement C3 in chronic inflammatory bowel disease. Predominance of the C3F gene in Crohn's disease. | NA | {
"id": 10162,
"name": "LPCAT3",
"pos": [
89,
3
]
} | {
"id": "C0021390",
"name": "Inflammatory Bowel Diseases",
"pos": [
41,
26
]
} |
Paraffin embedded specimens of normal breast (NB - n = 8); florid hyperplasia without atypia (FH - n = 17); fibroadenoma (FIB - n = 17); ductal carcinoma in situ (DCIS - n = 10) and infiltrating ductal carcinoma (IDC - n = 15) were processed for follistatin and FLRG immunohistochemistry and in situ hybridization. | NA | {
"id": 10272,
"name": "FSTL3",
"pos": [
262,
4
]
} | {
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
137,
24
]
} |
The PHD2 isoform is the main down-regulator of HIFs in normoxia and mild hypoxia. | NA | {
"id": 54583,
"name": "EGLN1",
"pos": [
4,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
73,
7
]
} |
MiR-30a therefore could serve as a novel therapeutic agent for the effective treatment of medulloblastoma by inhibiting autophagy that is known to play important role in cancer cell growth, survival and malignant behavior. | biomarker | {
"id": 407029,
"name": "MIR30A",
"pos": [
0,
7
]
} | {
"id": "C0278510",
"name": "Childhood Medulloblastoma",
"pos": [
90,
15
]
} |
In conclusion, the present study showed that FFPE tissue-based proteomics analysis can be powerful tool, and these findings suggested that ENO1, TPI-1, and TAGLN2 may have a role in the development and progression of brain metastasis from gynecological malignancies. | biomarker | {
"id": 7167,
"name": "TPI1",
"pos": [
145,
5
]
} | {
"id": "C0220650",
"name": "Metastatic malignant neoplasm to brain",
"pos": [
217,
16
]
} |
HE staining microscopic examination was used to observe inflammation severity in gastric mucosa, and enzyme-linked immunosorbent assay (ELISA) was adapted to measure content of heat shock protein (HSP) 72, TNF-alpha and IL-1beta, and real-time quantitative PCR was used to measure the expression of TLR2 mRNA, TLR4 mRNA, CD14 mRNA and MyD88 mRNA in peripheral blood mononuclear cells, and western blot method was used to measure content of NFkappaB and IkappaBalpha in peripheral blood mononuclear cells. | NA | {
"id": 4792,
"name": "NFKBIA",
"pos": [
453,
12
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
56,
12
]
} |
LPL mRNA was produced by a proportion of plaque macrophages, particularly macrophage-derived foam cells, but was not detected in association with any intimal or medial smooth muscle cells. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
0,
3
]
} | {
"id": "C4281786",
"name": "Presence of foam cells",
"pos": [
93,
10
]
} |
The tumor cells of malignant histiocytosis generally expressed the monocyte markers CD11b, CD11c, CD14, and CD45, especially after induction with phorbol ester. | NA | {
"id": 5788,
"name": "PTPRC",
"pos": [
108,
4
]
} | {
"id": "C0019623",
"name": "Malignant histiocytosis",
"pos": [
19,
23
]
} |
The objectives of this study were to identify PD subtypes using cluster analysis (CA) and to determine the association between the subtypes and the polymorphisms in LRRK2 (G2385R and R1628P) and GBA (L444P) genes. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
165,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
46,
2
]
} |
In the clinical features analysis, significant associations were observed between CD40 SNPs and lymph node metastasis, human epidermal growth factor receptor 2 (C-erbB2), estrogen receptor (ER), progesterone receptor (PR) and tumor protein 53 (P53) statuses. | biomarker | {
"id": 958,
"name": "CD40",
"pos": [
82,
4
]
} | {
"id": "C0686619",
"name": "Secondary malignant neoplasm of lymph node",
"pos": [
96,
21
]
} |
Accurate polysomnography and assessment of the degree of somatic mosaicism should be conducted in asymptomatic carriers of PHOX2B mutations, as they may unmask subclinical but significant anomalies. | NA | {
"id": 8929,
"name": "PHOX2B",
"pos": [
123,
6
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
98,
12
]
} |
However, in order to get tumor cell killing in vivo, the activity and the number of cancer peptide-specific Th1/Tc1 cells probably need to be enhanced by vaccination with the appropriate cancer antigenic peptides or by injection of the autologus tumor peptide-specific T cells expanded in vitro. | NA | {
"id": 51497,
"name": "NELFCD",
"pos": [
108,
3
]
} | {
"id": "C0006826",
"name": "Malignant Neoplasms",
"pos": [
187,
6
]
} |
We used denaturing high performance liquid chromatography (D-HPLC) and direct sequencing to screen 216 patients (134 with autosomal recessive or sporadic retinitis pigmentosa (RP) and 82 with other retinal dystrophies) for RBP1 and RBP3, and 331 patients for RGR (79 cases with autosomal dominant RP and 36 RP cases with undetermined inheritance were added to the 216 previous patients). | NA | {
"id": 266747,
"name": "RGL4",
"pos": [
259,
3
]
} | {
"id": "C0035334",
"name": "Retinitis Pigmentosa",
"pos": [
154,
20
]
} |
We demonstrated that HLA-DRB1*0405 (RR = 6.6, P<10(-6)), DQA1*03 (RR = 5.2, P<10(-6)), DQB1*04 (RR = 3.5, P<0.002) alleles were useful markers of susceptibility to RA in Koreans. | genomic_alterations | {
"id": 3117,
"name": "HLA-DQA1",
"pos": [
60,
4
]
} | {
"id": "C0003873",
"name": "Rheumatoid Arthritis",
"pos": [
173,
2
]
} |
Distinct alpha-SYN species were detected in the detergent-insoluble fractions from brains of patients with PD, dementia with LBs, and neurodegeneration with brain iron accumulation type 1 (formerly known as Hallervorden-Spatz disease). | NA | {
"id": 2534,
"name": "FYN",
"pos": [
15,
3
]
} | {
"id": "C0497327",
"name": "Dementia",
"pos": [
111,
8
]
} |
CTLA-4 polymorphisms do not seem to be a risk factor for allergic asthma in Poles. | genomic_alterations | {
"id": 1493,
"name": "CTLA4",
"pos": [
0,
6
]
} | {
"id": "C0004096",
"name": "Asthma",
"pos": [
66,
6
]
} |
METHODS: Recombinant adenovirus pAd/CMV/V5-DEST-hogg1 and control adenovirus pAd/CMV/5-GW/lacZ were constructed and transferred into EC9706 and ET13 cells, respectively. | NA | {
"id": 4968,
"name": "OGG1",
"pos": [
48,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
66,
10
]
} |
Fibroblast derived Wnt3a reduced melanoma cell adhesion and enhanced migration, while the β-catenin inhibitor PKF115-584 increased adhesion and reduced migration in vitro and in the chick embryonic neural crest environment in vivo. | biomarker | {
"id": 89780,
"name": "WNT3A",
"pos": [
19,
5
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
33,
8
]
} |
A positive reaction for NRP-1, but with a gradual reduction in intensity, was observed in the myoepithelial cells of ducts with atypical epithelial hyperplasia and ductal carcinoma in situ (DCIS). | NA | {
"id": 4673,
"name": "NAP1L1",
"pos": [
24,
3
]
} | {
"id": "C0007124",
"name": "Noninfiltrating Intraductal Carcinoma",
"pos": [
164,
24
]
} |
Ex vivo plasmid transfection and adenovirus infection were tested as mechanisms to incorporate specific PAI-1 RNAi vectors into human gastric carcinoma cells. | biomarker | {
"id": 5054,
"name": "SERPINE1",
"pos": [
104,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
33,
20
]
} |
At a functional level, systemic insulin sensitivity positively associated with PDXK expression, and surgically-induced weight loss (improving insulin sensitivity) led to increased SAT PDXK mRNA levels in parallel with adipogenic genes. | NA | {
"id": 8566,
"name": "PDXK",
"pos": [
184,
4
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
142,
19
]
} |
In this study, we examined the hypothesis that SAH may indirectly enhance the invasion of C6 glioma cells by induction of matrix metalloproteinase-2 (MMP-2) secreted from the murine microglia BV2 cells. | NA | {
"id": 6296,
"name": "ACSM3",
"pos": [
47,
3
]
} | {
"id": "C0017638",
"name": "Glioma",
"pos": [
93,
6
]
} |
Plasmodium falciparum adhesion domains linked to severe malaria differ in blockade of endothelial protein C receptor. | NA | {
"id": 10544,
"name": "PROCR",
"pos": [
86,
30
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
22,
8
]
} |
Its manifestation during pregnancy ranges from exacerbation of pre-existing central or nephrogenic diabetes insipidus to transient pregnancy-induced diabetes insipidus due to the increased metabolism of the antidiuretic hormone vasopressin (AVP) by the placental vasopressinase. | genomic_alterations | {
"id": 4012,
"name": "LNPEP",
"pos": [
263,
14
]
} | {
"id": "C0085207",
"name": "Gestational Diabetes",
"pos": [
131,
36
]
} |
Therefore, this highly selective HDAC6 inhibitor can be considered a potential therapeutic for the treatment of glioblastoma and other cancers. | biomarker | {
"id": 10013,
"name": "HDAC6",
"pos": [
33,
5
]
} | {
"id": "C0280474",
"name": "Childhood Glioblastoma",
"pos": [
112,
12
]
} |
Adoptive transfer of NKT cells, but not CD4 T cells, isolated from wild type livers restored hepatic fibrosis in Cxcr6(-/-) mice upon experimental steatohepatitis. | NA | {
"id": 920,
"name": "CD4",
"pos": [
40,
3
]
} | {
"id": "C0239946",
"name": "Fibrosis, Liver",
"pos": [
93,
16
]
} |
Here, we examined 95 patients with oesophageal cancer who received 5-fluorouracil and cisplatin (FP) to determine whether nephrotoxicity was affected by SLC22A2 808G>T polymorphism. | genomic_alterations | {
"id": 6582,
"name": "SLC22A2",
"pos": [
153,
7
]
} | {
"id": "C0546837",
"name": "Malignant neoplasm of esophagus",
"pos": [
35,
18
]
} |
The downstream targets of hsa-miR-21, PTEN and programmed cell death 4, were found to be greatly reduced in 3 of 4 cholesteatoma samples. | NA | {
"id": 5728,
"name": "PTEN",
"pos": [
38,
4
]
} | {
"id": "C0008373",
"name": "Cholesteatoma",
"pos": [
115,
13
]
} |
]-FP-CIT uptake in a new sporadic case of RDP with a novel mutation in the ATP1A3 gene showed values just within the range of normality. | NA | {
"id": 478,
"name": "ATP1A3",
"pos": [
75,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
25,
8
]
} |
Because of their major implication in different steps of tumor progression, we investigated here the influence of ZO-1 on chemokines expression in breast cancer cells. | NA | {
"id": 7082,
"name": "TJP1",
"pos": [
114,
4
]
} | {
"id": "C0178874",
"name": "Tumor Progression",
"pos": [
57,
17
]
} |
Recent studies have expanded this spectrum with gain-of-function SCN9A mutations in patients with small fiber neuropathy and in a new syndrome of pain, dysautonomia, and small hands and small feet (acromesomelia). | NA | {
"id": 6335,
"name": "SCN9A",
"pos": [
65,
5
]
} | {
"id": "C0575802",
"name": "Small hand",
"pos": [
170,
11
]
} |
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male. | NA | {
"id": 4204,
"name": "MECP2",
"pos": [
0,
5
]
} | {
"id": "C3839460",
"name": "Nonprogressive",
"pos": [
29,
15
]
} |
The phosphatase and tensin homologue deleted from chromosome 10 (PTEN) is one of the genes on chromosome 10 whose of which the loss or inactivation may play an important role in melanoma tumorigenesis, but functional studies directly demonstrating PTEN involvement in melanomas are necessary to confirm this role. | NA | {
"id": 7145,
"name": "TNS1",
"pos": [
20,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
187,
13
]
} |
To address this gap in knowledge, we examined 94 sebaceous neoplasms from 92 patients and 17 sebaceous hyperplasia controls using immunohistochemistry for MLH1, MSH2, and MSH6. | NA | {
"id": 2956,
"name": "MSH6",
"pos": [
171,
4
]
} | {
"id": "C0406484",
"name": "Sebaceous hyperplasia",
"pos": [
93,
21
]
} |
At embryonic days 12.5 (E12.5), E15.5, and E18.5, maternal gestational hypercholesterolemia and atherosclerosis were associated to a 22-24% reduction in male and female fetal weight without alterations in fetal number/litter or morphology nor placental weight or structure. | NA | {
"id": 64100,
"name": "ELSPBP1",
"pos": [
24,
3
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
253,
6
]
} |
Overall, these findings will help elucidate how the PI3K/Akt/mTOR pathway intersects with Wnt signaling to result in cognitive impairments, specifically in memory. | biomarker | {
"id": 5290,
"name": "PIK3CA",
"pos": [
52,
4
]
} | {
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
117,
21
]
} |
Quantitative real-time polymerase chain reaction revealed that AIPC and extra-pancreatobiliary lesions had significantly higher ratios of interleukin (IL)-4/interferon-gamma (IFN-gamma) (45.8-fold), IL-5/IFN-gamma (18.7-fold), IL-13/interferon (IFN)-gamma (20.7-fold), IL-10/CD4 (45.3-fold), and tumor growth factor (TGF)-beta/CD4 (39.4-fold) than did primary sclerosing cholangitis (PSC) and primary biliary cirrhosis (PBC). | NA | {
"id": 3567,
"name": "IL5",
"pos": [
199,
4
]
} | {
"id": "C0566602",
"name": "Primary sclerosing cholangitis",
"pos": [
352,
30
]
} |
There was no difference in the frequency of II, ID, or DD genotypes, or of I and D alleles among subjects with type 2 diabetes without diabetic retinopathy (NDR) or with simple diabetic retinopathy (SDR) and non-diabetic controls. | NA | {
"id": 8436,
"name": "CAVIN2",
"pos": [
199,
3
]
} | {
"id": "C0011884",
"name": "Diabetic Retinopathy",
"pos": [
177,
20
]
} |
Treatment of SP-D deficient mice with rfhSP-D leads to a reduction in the degree of emphysema and a correction of type II cell hyperplasia and hypertrophy. | NA | {
"id": 6441,
"name": "SFTPD",
"pos": [
13,
4
]
} | {
"id": "C0020564",
"name": "Hypertrophy",
"pos": [
143,
11
]
} |
Association of the -112A>C polymorphism of the uncoupling protein 1 gene with insulin resistance in Japanese individuals with type 2 diabetes. | NA | {
"id": 7350,
"name": "UCP1",
"pos": [
47,
20
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
78,
18
]
} |
Auto positive airway pressure therapy reduces pulmonary pressures in adults admitted for acute heart failure with pulmonary hypertension and obstructive sleep apnea. The ASAP-HF Pilot Trial. | biomarker | {
"id": 79884,
"name": "MAP9",
"pos": [
170,
4
]
} | {
"id": "C0520679",
"name": "Sleep Apnea, Obstructive",
"pos": [
141,
23
]
} |
Alterations in MLH1 and MSH6 are documented with microsatellite instability. | NA | {
"id": 4292,
"name": "MLH1",
"pos": [
15,
4
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
49,
26
]
} |
These data introduce targets for future studies to identify which are causative and which are compensatory in DYT1 dystonia, and thereby aid in defining appropriate therapies. | genomic_alterations | {
"id": 1861,
"name": "TOR1A",
"pos": [
110,
4
]
} | {
"id": "C0013421",
"name": "Dystonia",
"pos": [
115,
8
]
} |
The expression patterns of two members of the Wnt pathway, Wnt5b and secreted frizzled related protein (sFRP)1, were evaluated in myometrial SMC (n = 22) and in leiomyoma cells (n = 27) by real-time quantitative PCR. | NA | {
"id": 2487,
"name": "FRZB",
"pos": [
78,
24
]
} | {
"id": "C0023267",
"name": "Fibroid Tumor",
"pos": [
161,
9
]
} |
In addition, NPY rs16147 was significantly correlated with obesity parameters including BMI, waist circumference, triglyceride and body fat percentage (P < 0.05). | NA | {
"id": 4852,
"name": "NPY",
"pos": [
13,
3
]
} | {
"id": "C0518026",
"name": "body fat percentage (physical finding)",
"pos": [
131,
19
]
} |
Although several LRRK2 mutations were found in familial as well as sporadic PD patients, its physiological functions are not clearly defined. | NA | {
"id": 120892,
"name": "LRRK2",
"pos": [
18,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
68,
8
]
} |
We identified multiple previously unreported or unconfirmed disease associations, including known CD loci (ICOSLG and TNFSF15) and T1D loci (TNFAIP3) that confer UC risk, known UC loci (HERC2 and IL26) that confer T1D risk and known UC loci (IL10 and CCNY) that confer CD risk. | genomic_alterations | {
"id": 9966,
"name": "TNFSF15",
"pos": [
118,
7
]
} | {
"id": "C0011854",
"name": "Diabetes Mellitus, Insulin-Dependent",
"pos": [
131,
3
]
} |
The 17p13.3 microduplication syndrome is associated with mild intellectual disabiltiy and contains, among others, the PAFAH1B1 (LIS1) gene, whereas microdeletions of the same segment cause Miller-Dieker syndrome (MDS) with severe to profound retardation. | NA | {
"id": 5048,
"name": "PAFAH1B1",
"pos": [
118,
8
]
} | {
"id": "C1513302",
"name": "Mild Adverse Event",
"pos": [
57,
4
]
} |
The aim of the study was to explore the correlation between rs7903146 and rs290487 polymorphisms in transcription factor 7-like 2 (TCF7L2) gene and diabetic nephropathy (DN) in Chinese Han population.Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of TCF7L2 polymorphisms in 90 patients with DN and 96 diabetes patients without DN. | genomic_alterations | {
"id": 6934,
"name": "TCF7L2",
"pos": [
302,
6
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
353,
8
]
} |
Mutations in optineurin are associated with glaucoma, a neurodegenerative eye disease that causes blindness. | genomic_alterations | {
"id": 10133,
"name": "OPTN",
"pos": [
13,
10
]
} | {
"id": "C0017601",
"name": "Glaucoma",
"pos": [
44,
8
]
} |
N-methyl-D-aspartate receptors mediate epilepsy-induced axonal impairment and tau phosphorylation via activating glycogen synthase kinase-3β and cyclin-dependent kinase 5. | therapeutic | {
"id": 4137,
"name": "MAPT",
"pos": [
78,
3
]
} | {
"id": "C0014544",
"name": "Epilepsy",
"pos": [
39,
8
]
} |
Here we found that the type III effectors, NleE from enteropathogenic E. coli (EPEC) and OspZ from Shigella, blocked translocation of the p65 subunit of the transcription factor, NF-kappaB, to the host cell nucleus. | NA | {
"id": 4790,
"name": "NFKB1",
"pos": [
179,
9
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
117,
13
]
} |
Comparison of irAE from the three most studied tumour types in PD-1 mAbs trials [melanoma (n = 2048), non-small-cell lung cancer (n = 1030) and renal cell carcinoma (n = 573)] showed melanoma patients had a higher frequency of gastrointestinal and skin irAE and lower frequency of pneumonitis. | genomic_alterations | {
"id": 5133,
"name": "PDCD1",
"pos": [
63,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
47,
6
]
} |
Here we report a case of an epithelioid hemangioendothelioma arising in the foot of a 56-year-old female, with a 46,XX,-6,t(10;14)(p13;q24),+r. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
131,
3
]
} | {
"id": "C0206732",
"name": "Epithelioid hemangioendothelioma",
"pos": [
28,
32
]
} |
Frequencies of malformation in BRCA2 and MMR mutated families were similar to families without a cancer syndrome. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
41,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
97,
6
]
} |
OBJECTIVE: To investigate the Lgr5 (Leucine-rich repeat-containing G protein-coupled receptor 5) expression in cervical carcinoma and to estimate its clinical significance. | NA | {
"id": 2829,
"name": "XCR1",
"pos": [
67,
28
]
} | {
"id": "C0302592",
"name": "Cervix carcinoma",
"pos": [
111,
18
]
} |
Patients with ABCB1 rs1128503 TT genotype had greater risk of skin rash and diarrhea. | genomic_alterations | {
"id": 5243,
"name": "ABCB1",
"pos": [
14,
5
]
} | {
"id": "C0015230",
"name": "Exanthema",
"pos": [
62,
9
]
} |
We found that physical indexes of obesity, such as body mass index, waist circumference, waist to hip circumference ratio, subscapular skinfold thickness, and subscapular to triceps skinfold thickness ratio were each significantly higher among Inuit subjects with the LMNA 1908T allele than in subjects with the 1908C/1908C genotype. | NA | {
"id": 4000,
"name": "LMNA",
"pos": [
268,
4
]
} | {
"id": "C0562350",
"name": "Hip circumference",
"pos": [
98,
17
]
} |
In the present study, Sps1 and Sps2 were cloned from a cDNA library prepared from human lung adenocarcinoma cells (NCIH441). | NA | {
"id": 22929,
"name": "SEPHS1",
"pos": [
22,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
88,
19
]
} |
Neutralization of chemokine receptor/ligand interactions using CCR4 small molecule antagonists reduced T<sub>reg</sub> migration towards GC-treated NPs in an ex vivo migration assay. | biomarker | {
"id": 1233,
"name": "CCR4",
"pos": [
63,
4
]
} | {
"id": "C0027430",
"name": "Nasal Polyps",
"pos": [
160,
2
]
} |
Consistent with the fact that T631I mutant was found in three asymptomatic individuals, the electrophysiological parameters of T631I were similar to those of WT CLCN1 channels, suggesting that T631I is a neutral mutation. | NA | {
"id": 1180,
"name": "CLCN1",
"pos": [
161,
5
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
62,
12
]
} |
This association could be accounted for by those patients with proliferative retinopathy (MAC vs LTD, p = 0.23; MAC vs PR, p = 0.07; and PR vs LTD, p = 0.002). | NA | {
"id": 4082,
"name": "MARCKS",
"pos": [
112,
3
]
} | {
"id": "C0339467",
"name": "Proliferative retinopathy",
"pos": [
63,
25
]
} |
Furthermore, we found that alpha-smooth muscle actin (alpha-SMA)-positive myofibroblasts derived from HSCs, surrounding the liver metastasis foci, secreted SDF-1. | NA | {
"id": 70,
"name": "ACTC1",
"pos": [
33,
19
]
} | {
"id": "C0494165",
"name": "Secondary malignant neoplasm of liver",
"pos": [
124,
16
]
} |
Bone marrow specimens from six Ph1/-7 patients were studied further using the polymerase chain reaction and primers that flank the ALL, and chronic myelogenous leukemia breakpoints to determine the molecular characteristic of the 9;22 translocation. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
31,
3
]
} | {
"id": "C0023473",
"name": "Myeloid Leukemia, Chronic",
"pos": [
140,
28
]
} |
This study explores the association between MBL and MASP-2 gene polymorphism and their interactions and the susceptibility to tuberculosis (TB). | NA | {
"id": 5648,
"name": "MASP1",
"pos": [
52,
4
]
} | {
"id": "C0429908",
"name": "Susceptibility to tuberculosis",
"pos": [
108,
30
]
} |
In 24 out of 75 atopic patients, IFN-gamma production in PBMCs following stimulation with IL-12 was under the detection limit, but PHA stimulation elicited detectable IFN-gamma production. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
167,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
16,
6
]
} |
In most of the animals, the deposits are nonfibrillar and non-Congophilic, but 20% of animals older than 18 months that bear the transgene have human TTR cardiac amyloid deposits identical to the lesions seen in SSA. | NA | {
"id": 811,
"name": "CALR",
"pos": [
212,
3
]
} | {
"id": "C2936349",
"name": "Plaque, Amyloid",
"pos": [
162,
16
]
} |
A genetic susceptibility to the development of PIM, distinct from that observed in myasthenia gravis of spontaneous onset, is suggested by this abnormal distribution of HLA Dr antigens. | NA | {
"id": 5292,
"name": "PIM1",
"pos": [
47,
3
]
} | {
"id": "C0026896",
"name": "Myasthenia Gravis",
"pos": [
83,
17
]
} |
Further analyses will be required in order to better understand the meaning of BRAF mutations in epilepsy-associated tumors and FCD and their possible role as a prognostic seizure outcome and tumor behavior marker. | genomic_alterations | {
"id": 673,
"name": "BRAF",
"pos": [
79,
4
]
} | {
"id": "C0036572",
"name": "Seizures",
"pos": [
172,
7
]
} |
However, ESR, fibrinogen, procalcitonin, IL-6, C5a, TNF-alpha, and IgD levels were not significantly different between patients and healthy subjects (p > 0.05). | NA | {
"id": 3569,
"name": "IL6",
"pos": [
41,
4
]
} | {
"id": "C1561955",
"name": "Fibrinogen, CTCAE",
"pos": [
14,
10
]
} |
We describe a bioinformatic tool, Tumor Aberration Prediction Suite (TAPS), for the identification of allele-specific copy numbers in tumor samples using data from Affymetrix SNP arrays. | NA | {
"id": 151516,
"name": "ASPRV1",
"pos": [
69,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
134,
5
]
} |
Our data highlight the importance of FXR1-FBXO4 signaling in prostate cancer. | biomarker | {
"id": 8087,
"name": "FXR1",
"pos": [
37,
4
]
} | {
"id": "C0376358",
"name": "Malignant neoplasm of prostate",
"pos": [
61,
15
]
} |
Here we identify oppositely regulated targets of NFI-C2 and FoxF1 involved in these processes and further study a possible role for FoxF1 in tumorigenesis. | NA | {
"id": 4782,
"name": "NFIC",
"pos": [
49,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
141,
13
]
} |
However, 2 of 5 TMD cases, and all AMKL cases, showed mutations/deletions other than GATA1, in genes proven as transformation drivers in non-DS leukemia (EZH2, APC, FLT3, JAK1, PARK2-PACRG, EXT1, DLEC1, and SMC3). | NA | {
"id": 9940,
"name": "DLEC1",
"pos": [
196,
5
]
} | {
"id": "C0023418",
"name": "leukemia",
"pos": [
144,
8
]
} |
The expression of EMILIN-5 was investigated in 63 cases of esophageal cancer specimens and 60 cases of normal esophageal specimens using immunohistochemical analysis. | NA | {
"id": 11117,
"name": "EMILIN1",
"pos": [
18,
6
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
110,
10
]
} |
Changes in the components of hypothalamic-pituitary-adrenal (HPA) axis were accompanied by increases in brain tissue Abeta levels and Abeta plaque deposition in the hippocampus and overlying cortex in isolated Tg+ mice. | NA | {
"id": 10855,
"name": "HPSE",
"pos": [
61,
3
]
} | {
"id": "C0011389",
"name": "Dental Plaque",
"pos": [
140,
6
]
} |
The findings indicate that higher MASP-2 serum levels are associated with relative protection from urogenital schistosomiasis in Nigerian children. | NA | {
"id": 5648,
"name": "MASP1",
"pos": [
34,
4
]
} | {
"id": "C1704430",
"name": "Urinary Schistosomiasis",
"pos": [
99,
26
]
} |
SFRP2 mRNA was expressed in the immortalized normal esophageal epithelial cell line but not in seven ESCC cell lines. | NA | {
"id": 6423,
"name": "SFRP2",
"pos": [
0,
5
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
52,
10
]
} |
Clear cell sarcoma (CCS) typically presents as a tumor in the deep soft tissue of extremities, but when centered in the dermis it may be confused with a melanocytic nevus, primary nodular or metastatic melanoma. | NA | {
"id": 9973,
"name": "CCS",
"pos": [
20,
3
]
} | {
"id": "C0278883",
"name": "Metastatic melanoma",
"pos": [
191,
19
]
} |
These techniques may also be helpful in differentiating MLP from other GI lymphomas, particularly low grade lymphomas of MALT, when only small routinely fixed endoscopic biopsies are available. | NA | {
"id": 8048,
"name": "CSRP3",
"pos": [
56,
3
]
} | {
"id": "C0024299",
"name": "Lymphoma",
"pos": [
108,
9
]
} |
Acquired CDK6 amplification promotes breast cancer resistance to CDK4/6 inhibitors and loss of ER signaling and dependence. | biomarker | {
"id": 1021,
"name": "CDK6",
"pos": [
9,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
37,
13
]
} |
Recent genome-wide association studies and consecutive validation supported that the 5p15.33 region containing telomerase reverse transcriptase gene (TERT) and cleft lip and palate transmembrane protein 1-like (CLPTM1L) gene showed significant association with lung cancer in multiple populations. | NA | {
"id": 7109,
"name": "TRAPPC10",
"pos": [
181,
23
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
261,
11
]
} |
In addition to severe cerebellar atrophy, both had prominent white matter hyperintensities on cranial MRI. | NA | {
"id": 78996,
"name": "CYREN",
"pos": [
103,
3
]
} | {
"id": "C0740279",
"name": "Cerebellar atrophy",
"pos": [
23,
18
]
} |
However, somatic mutations in BRCA1 and BRCA2 in sporadic breast and ovarian tumors are rare, even though loss of heterozygosity in BRCA1 and BRCA2 loci in these tumors appears frequently. | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
132,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
49,
8
]
} |
The differentially expressed genes between diffuse and nodular samples included some related to DNA stability and repair (TALDO1, PRDX2, DDB1, XRCC1, and POLB), RNA stability and degradation (OASL and AUF1), protein synthesis and processing (PFDN5, HSPD1, and NACA), cell growth (CDC25C and GRPR), and tumorigenesis and cell cycle (VIL2 and TPD52). | biomarker | {
"id": 7430,
"name": "EZR",
"pos": [
332,
4
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
302,
13
]
} |
Hence, molecules that mimic beneficial APP activities may be useful in the prevention/treatment of HIV-1-associated nervous system damage and, perhaps, also of other types of neural injury. | NA | {
"id": 351,
"name": "APP",
"pos": [
39,
3
]
} | {
"id": "C0422837",
"name": "Neurological observations",
"pos": [
116,
14
]
} |
Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population. | NA | {
"id": 4524,
"name": "MTHFR",
"pos": [
118,
35
]
} | {
"id": "C0242596",
"name": "Neoplasm, Residual",
"pos": [
60,
24
]
} |
Local effects of epidermal growth factor on the wound healing in esophageal anastomosis: An experimental study. | biomarker | {
"id": 1950,
"name": "EGF",
"pos": [
17,
23
]
} | {
"id": "C0332853",
"name": "Anastomosis",
"pos": [
76,
11
]
} |
It is further hypothesized that MC2R blockade should allow using lower glucocorticoid doses to treat congenital adrenal hyperplasia (CAH) due to enzyme deficiency of either 21-hydroxylase (CYP21B) or 11-hydroxylase (CYP11B1), thus reaching a better final adult height than with current therapeutic strategies. | NA | {
"id": 1584,
"name": "CYP11B1",
"pos": [
216,
7
]
} | {
"id": "C0489786",
"name": "Height",
"pos": [
261,
6
]
} |
A subset of ACC is due to Lynch syndrome, an inherited tumor syndrome resulting from germline mutations in mismatch repair (MMR) genes. | genomic_alterations | {
"id": 4360,
"name": "MRC1",
"pos": [
124,
3
]
} | {
"id": "C0175754",
"name": "Agenesis of corpus callosum",
"pos": [
12,
3
]
} |
In the present study, we reported the development and application of PGD protocols to address enlarged vestibular aqueduct (EVA), which is a common type of hereditary hearing impairment associated with mutations in the SLC26A4 gene. | NA | {
"id": 10205,
"name": "MPZL2",
"pos": [
124,
3
]
} | {
"id": "C1384666",
"name": "hearing impairment",
"pos": [
167,
18
]
} |
These findings uncover an epigenetic vicious cycle in hepatocarcinogenesis that operates through reciprocal regulation of CCRK and EZH2, providing novel therapeutic strategy for HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
178,
3
]
} | {
"id": "C1512409",
"name": "Hepatocarcinogenesis",
"pos": [
54,
20
]
} |
Because these mitotic abnormalities mimic those observed with the knockdown of EWSR1 in zebrafish embryos and HeLa cells, we investigated whether EWSR1/FLI1 interacts with EWSR1 and interferes with its function. | NA | {
"id": 2130,
"name": "EWSR1",
"pos": [
172,
5
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
22,
13
]
} |
In the HIF-1alpha-deficient human leukemic cell line, Z-33, exposed to mild (8% O(2)) or severe (1% O(2)) hypoxia, we found significant upregulation of two related heterogenous nuclear ribonucleoproteins, RNA-binding motif protein 3 (RBM3) and cold inducible RNA-binding protein (CIRP), which are highly conserved cold stress proteins with RNA-binding properties. | NA | {
"id": 1153,
"name": "CIRBP",
"pos": [
280,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
106,
7
]
} |
In this study we explored the expression of two novel candidate genes, CDX2 and Oct4, in NETs of the ileum and analyzed whether the molecular expression pattern correlates with the clinical phenotype (solitary/multiple tumors). | NA | {
"id": 1045,
"name": "CDX2",
"pos": [
71,
4
]
} | {
"id": "C0260037",
"name": "Multiple tumors",
"pos": [
210,
15
]
} |
Systolic (SBP) and diastolic (DBP) blood pressures and heart rate (HR) were recorded in response to 250 mg of caffeine vs placebo (3 mg) during rest and during a stressful mental arithmetic task. | NA | {
"id": 1628,
"name": "DBP",
"pos": [
30,
3
]
} | {
"id": "C0018810",
"name": "heart rate",
"pos": [
55,
10
]
} |
Variation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
142,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
38,
19
]
} |
The expression of NPM-ALK chimeric oncogene results from the chromosomal translocation t(2;5)(p23;q35) that causes the fusion of the ALK and NPM genes. | NA | {
"id": 4869,
"name": "NPM1",
"pos": [
141,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
61,
25
]
} |
Subsets and Splits