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dict | t
dict |
|---|---|---|---|
Infertile oligoastenozoospermic man with complementary isochromosome 46,XY, i(9)(p10),i(9)(q10). | NA | {
"id": 51010,
"name": "EXOSC3",
"pos": [
81,
3
]
} | {
"id": "C0242621",
"name": "Isochromosomes",
"pos": [
55,
13
]
} |
First, ectopic ventral expression of CKIdelta(R324H) in Xenopus embryos results in secondary axis formation with an additional distinctive phenotype (altered morphological movements) similar to that seen with unregulated CKIepsilon. | NA | {
"id": 1454,
"name": "CSNK1E",
"pos": [
221,
10
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
83,
9
]
} |
To this end, we have analyzed a rare solid tumor designated Intra-Abdominal Desmoplastic Small Round Cell Sarcoma (IADSRCT) which often displays a recurrent chromosomal translocation t(11;22)(p13;q12) involving the WT1 genomic locus. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
192,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
157,
25
]
} |
Moreover, pro-cathepsin B and mature cathepsin B are both secreted together with trypsinogen and active trypsin into the pancreatic juice of patients with sporadic pancreatitis or hereditary pancreatitis. | NA | {
"id": 1508,
"name": "CTSB",
"pos": [
37,
11
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
155,
8
]
} |
The ACE2/Ang-(1-7)/Mas axis can inhibit hepatic insulin resistance. | NA | {
"id": 59272,
"name": "ACE2",
"pos": [
4,
4
]
} | {
"id": "C0021655",
"name": "Insulin Resistance",
"pos": [
48,
18
]
} |
MIF is expressed in cardiomyocytes and limits cardiac injury by enhancing AMPK activity during ischemia. | NA | {
"id": 268,
"name": "AMH",
"pos": [
0,
3
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
95,
8
]
} |
Flow cytometry showed TLR9 protein in 100% of epithelial cells from controls and CRSwNP patients. | biomarker | {
"id": 54106,
"name": "TLR9",
"pos": [
22,
4
]
} | {
"id": "C0027430",
"name": "Nasal Polyps",
"pos": [
81,
6
]
} |
In response to hyperglycemia, both active and latent heparanase are released from EC to facilitate LPL secretion. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
99,
3
]
} | {
"id": "C0020456",
"name": "Hyperglycemia",
"pos": [
15,
13
]
} |
Neither 3 h of ischemia alone or followed by reperfusion altered steady-state levels of IL-8 mRNA when compared to pre-ischemic levels. | NA | {
"id": 3576,
"name": "CXCL8",
"pos": [
88,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
15,
8
]
} |
We report on two sporadic apparently balanced translocations, t(7;17)(p13;q24) and t(17;20)(q24.3;q11.2), whose carriers have skeletal abnormalities that led to the diagnosis of acampomelic campomelic dysplasia (ACD; MIM 114290). | NA | {
"id": 9788,
"name": "MTSS1",
"pos": [
217,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
17,
8
]
} |
It was shown that in the presence of γCD-MOF leflunomide is transformed into its pharmacologically active form - teriflunomide that can be also applied alone in the treatment of multiple sclerosis. | biomarker | {
"id": 84148,
"name": "KAT8",
"pos": [
41,
3
]
} | {
"id": "C0026769",
"name": "Multiple Sclerosis",
"pos": [
178,
18
]
} |
Chinese Han patients with schizophrenia were assessed for abnormal involuntary movements, and subgroups of 42 patients with persistent tardive dyskinesia and 59 consistently without dyskinesias were assessed for the DRD3 ser9gly and the MnSOD ala-9val polymorphisms. | genomic_alterations | {
"id": 6648,
"name": "SOD2",
"pos": [
237,
5
]
} | {
"id": "C0013384",
"name": "Dyskinetic syndrome",
"pos": [
182,
11
]
} |
The HGF/SF antagonist NK4 reverses fibroblast- and HGF-induced prostate tumor growth and angiogenesis in vivo. | NA | {
"id": 9235,
"name": "IL32",
"pos": [
22,
3
]
} | {
"id": "C0033578",
"name": "Prostatic Neoplasms",
"pos": [
63,
14
]
} |
The c.335T>C and c.3073A>C polymorphisms of the MDR1 gene were associated with the risk of occurrence of HCC in the Chinese Han population. | genomic_alterations | {
"id": 23158,
"name": "TBC1D9",
"pos": [
54,
4
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
111,
3
]
} |
To shed some light on mechanisms with a potential to lead to apoptotic death of human neurones following ischemic/hypoxic injury, we examined the immunoreactivity of hippocampal neurones for PLSCR1, caspase-3, cytochrome c and DNA-fragmentation in 22 individuals with clinically symptomatic cerebral ischemia after cardiac arrest or severe hypotension. | NA | {
"id": 54205,
"name": "CYCS",
"pos": [
210,
12
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
114,
7
]
} |
We have identified two novel alleles in the prolidase gene (PEPD) by direct sequencing of PCR-amplified cDNA from a PD individual asymptomatic at age 11 years: a 551G-->A transition in exon 8 (R184Q) and a 833G-->A transition in exon 12 (G278D). | NA | {
"id": 5184,
"name": "PEPD",
"pos": [
44,
9
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
130,
12
]
} |
Hematopoietic MKP-1 deficiency in atherosclerosis-prone mice mimicked monocyte priming and dysfunction associated with metabolic disorders, increased monocyte chemotaxis in vivo, and accelerated atherosclerotic lesion formation. | biomarker | {
"id": 1843,
"name": "DUSP1",
"pos": [
14,
5
]
} | {
"id": "C0004153",
"name": "Atherosclerosis",
"pos": [
34,
15
]
} |
In males, one of the most common GU malformations associated with loss of Hoxa13 function is hypospadia, a condition defined by the poor growth and closure of the urethra and glans penis. | genomic_alterations | {
"id": 3209,
"name": "HOXA13",
"pos": [
74,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
36,
13
]
} |
The most substantial effect on BMI-based weight gain from normal to overweight/obesity in adults was observed for the DRD2 variant (rs6277)(OR: 0.79, 95% CI: 0.69-0.90, P = 3.9x10(-4), adj. | NA | {
"id": 1813,
"name": "DRD2",
"pos": [
118,
4
]
} | {
"id": "C0497406",
"name": "Overweight",
"pos": [
68,
10
]
} |
A systematic review and meta-analysis was conducted in an attempt to clarify whether IL-1 gene variants were associated with well-defined clinical phenotypes of CP in white patients. | genomic_alterations | {
"id": 3553,
"name": "IL1B",
"pos": [
85,
4
]
} | {
"id": "C0266929",
"name": "Chronic Periodontitis",
"pos": [
161,
2
]
} |
TNFalpha expression of subcutaneous adipose tissue in obese and morbid obese females: relationship to adipocyte LPL activity and leptin synthesis. | NA | {
"id": 3936,
"name": "LCP1",
"pos": [
112,
3
]
} | {
"id": "C0028754",
"name": "Obesity",
"pos": [
71,
5
]
} |
In a population-based study, we examined 2 common amino acid substitutions in the β(2)-adrenergic receptor gene (ADRB2) in relation to body composition and blood pressure. | NA | {
"id": 154,
"name": "ADRB2",
"pos": [
113,
5
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
156,
14
]
} |
Development of Novel Mutation-Specific Droplet Digital PCR Assays Detecting TERT Promoter Mutations in Tumor and Plasma Samples. | genomic_alterations | {
"id": 110806263,
"name": "LOC110806263",
"pos": [
76,
13
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
103,
5
]
} |
Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. | genomic_alterations | {
"id": 7156,
"name": "TOP3A",
"pos": [
41,
5
]
} | {
"id": "C0025958",
"name": "Microcephaly",
"pos": [
109,
12
]
} |
In contrast, SR-A protein was readily detectable in lymph nodes with metastatic tumor, extra-nodal CHL, T cell/histiocyte-rich large B cell lymphoma, and resident macrophages in non-malignant tissues, including spleen, lymph node, liver and lung. | biomarker | {
"id": 4481,
"name": "MSR1",
"pos": [
13,
4
]
} | {
"id": "C0027627",
"name": "Neoplasm Metastasis",
"pos": [
69,
16
]
} |
In a multivariate Cox proportional hazards model, reduced overall and progression-free survival rates were associated with a history of antecedent hematologic disorder, failure to achieve complete remission, thrombocytopenia, unfavorable cytogenetics, CXCR4 expression, and wild-type NPM1. | NA | {
"id": 4869,
"name": "NPM1",
"pos": [
284,
4
]
} | {
"id": "C0018939",
"name": "Hematological Disease",
"pos": [
147,
20
]
} |
EGFR mutations showed a discordance rate of 16.2% (6 of 37 patients) between primary lung adenocarcinomas and corresponding metastases. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
0,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
85,
20
]
} |
HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy. | NA | {
"id": 9421,
"name": "HAND1",
"pos": [
0,
5
]
} | {
"id": "C0340427",
"name": "Familial dilated cardiomyopathy",
"pos": [
48,
31
]
} |
We also examined the following antigens as indicative of activation and adhesion of the monocytes in these patients: CD11b, CD18, CD35, CD38, CD44, CD69. | NA | {
"id": 3684,
"name": "ITGAM",
"pos": [
117,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
72,
8
]
} |
Congenital bilateral hallux valgus with associated absence or fusion of the interphalangeal joint is a classic diagnostic feature of fibrodysplasia ossificans progressiva (FOP), a human genetic disease of extra-skeletal bone formation caused in nearly all cases by a gain-of-function mutation in Activin A Receptor I/Activin-like Kinase 2 (ACVR1/ALK2), which encodes a bone morphogenetic protein (BMP) Type 1 receptor. | genomic_alterations | {
"id": 90,
"name": "ACVR1",
"pos": [
346,
4
]
} | {
"id": "C0018536",
"name": "Hallux Valgus",
"pos": [
21,
13
]
} |
We measured the mRNA levels of electron transport chain genes, and mitochondrial structural genes, Drp1 (dynamin-related protein 1), Fis1 (fission 1), Mfn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optric atrophy 1), Tomm40 (translocase of outermembrane 40) and CypD (cyclophilin D) in grade III and grade IV HD patients and controls. | NA | {
"id": 5481,
"name": "PPID",
"pos": [
267,
13
]
} | {
"id": "C0333641",
"name": "Atrophic",
"pos": [
204,
7
]
} |
In conscious male rats, intravenous injection of hydralazine or diazoxide produced sustained hypotension and evoked a significant increase in PRA, as expected. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
142,
3
]
} | {
"id": "C0020649",
"name": "Hypotension",
"pos": [
93,
11
]
} |
Mutations in other genes, such as IRS4, GULP1, NHSL1, and C10orf53, accounted for one alteration in each meningioma nodule. | NA | {
"id": 8471,
"name": "IRS4",
"pos": [
34,
4
]
} | {
"id": "C0025286",
"name": "Meningioma",
"pos": [
105,
10
]
} |
Human GLI3 gene mutations have been identified in several phenotypes of digital abnormality such as Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type-IV (PPD-IV) and postaxial polydactyly. | genomic_alterations | {
"id": 30813,
"name": "VSX1",
"pos": [
193,
3
]
} | {
"id": "C0345354",
"name": "Radial polydactyly",
"pos": [
163,
20
]
} |
TMPRSS2-ERG fusion is absent in bladder small cell carcinoma, supporting the utility of FISH in distinguishing prostate from bladder primary tumors and identifying metastatic small cell carcinoma of unknown origin. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
88,
4
]
} | {
"id": "C0748861",
"name": "Metastatic small cell carcinoma",
"pos": [
164,
31
]
} |
FACS analysis of CA-IX and NDRG1 expression may be a new approach to determining the hypoxic state of tumor cells. | NA | {
"id": 10397,
"name": "NDRG1",
"pos": [
27,
5
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
85,
7
]
} |
Finally, mammary tumor epithelial cells derived from MMTV-c-myc transgenic mice contain elevated OGT and O-GlcNAcylation and OGT inhibition in this model induces apoptosis. | NA | {
"id": 8473,
"name": "OGT",
"pos": [
125,
3
]
} | {
"id": "C0024667",
"name": "Animal Mammary Neoplasms",
"pos": [
9,
13
]
} |
In this study, cell surface expression of CD38, a flow cytometric marker of T-cell activation of CD8+ T cells, had predictive value for HIV-1 disease progression that was in part independent of the predictive value of plasma viral burden and CD4+ T-cell number. | NA | {
"id": 952,
"name": "CD38",
"pos": [
42,
4
]
} | {
"id": "C0376705",
"name": "Viral Load result",
"pos": [
225,
12
]
} |
Our findings demonstrated that genistein plays a tumor suppressor role in part through inhibition of miR-27a in pancreatic cancer cells. | biomarker | {
"id": 407018,
"name": "MIR27A",
"pos": [
101,
7
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
49,
5
]
} |
Our objective was to determine the Mt2a gene expression levels in adipose tissues from diabetic patients and the effect of Mt treatment on adipocyte insulin sensitivity. | NA | {
"id": 4502,
"name": "MT2A",
"pos": [
35,
9
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
149,
19
]
} |
Forty of these (consisting of 35 well-differentiated and 5 undifferentiated types) overexpressed c-erbB-2, as evidenced by cytoplasmic membrane staining; these tumors were further examined by fluorescence in situ hybridization using a cosmid probe for 17q11.2-12 (c-erbB-2 locus) on formalin-fixed, paraffin-embedded tissues. | genomic_alterations | {
"id": 2064,
"name": "ERBB2",
"pos": [
266,
6
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
160,
6
]
} |
Glutathione S-transferase M1 and T1 genetic polymorphisms, alcohol consumption and breast cancer risk. | NA | {
"id": 2944,
"name": "GSTM1",
"pos": [
0,
28
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
59,
19
]
} |
These results, together with the findings that the protein contents of DLDH, sirt3, and NQO1 all are decreased in the diabetic lung, demonstrate that redox imbalance, mitochondrial abnormality, and oxidative stress contribute to lung injury in diabetes. | biomarker | {
"id": 23410,
"name": "SIRT3",
"pos": [
77,
5
]
} | {
"id": "C0011847",
"name": "Diabetes",
"pos": [
244,
8
]
} |
Finally, this original case of 13q31.1 microdeletion underlines the importance of array-CGH in prenatal diagnosis with sonographic signs such as macroglossia and/or macrocephaly. | biomarker | {
"id": 3342,
"name": "HTC2",
"pos": [
88,
3
]
} | {
"id": "C0024421",
"name": "Macroglossia",
"pos": [
145,
12
]
} |
In all, 11 independent GWL studies of either neuroticism (n=8) or anxiety disorders (n=3) were collected, which comprised of 5341 families with 15 529 individuals. | NA | {
"id": 84930,
"name": "MASTL",
"pos": [
23,
3
]
} | {
"id": "C1842981",
"name": "NEUROTICISM",
"pos": [
45,
11
]
} |
S100A6 (calcyclin), functions in cell cycle progression and differentiation, has been reported to promote the tumorigenesis and malignancy of many types of cancers. | NA | {
"id": 6277,
"name": "S100A6",
"pos": [
8,
9
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
110,
13
]
} |
MiR-141, which belong to miR-200 family, take a part in tumorigenesis. | biomarker | {
"id": 406933,
"name": "MIR141",
"pos": [
0,
7
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
56,
13
]
} |
There was no suggestion of an interaction between any alcohol use variable and the ADH3(*)1 genotype. | NA | {
"id": 126,
"name": "ADH1C",
"pos": [
83,
4
]
} | {
"id": "C0001948",
"name": "Alcohol consumption",
"pos": [
54,
11
]
} |
We aimed to identify the monoamine oxidase A (MAOA, Xp11.3) gene variants and MAO-A enzyme activity associated with gout risk. | NA | {
"id": 4128,
"name": "MAOA",
"pos": [
46,
4
]
} | {
"id": "C0018099",
"name": "Gout",
"pos": [
116,
4
]
} |
The overexpression and silencing of KIF14 enhanced or reduced the recruitment of CDH11 in the membrane fraction, suggesting that KIF14 might act through recruiting adhesion molecules to the cell membrane and modulating cell adhesive, migratory and invasive properties. | NA | {
"id": 1009,
"name": "CDH11",
"pos": [
81,
5
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
164,
8
]
} |
As recent data suggest a role for AIP in the pathogenesis of sporadic GH-PA and their response to somatostatin analogues (SSA), the expression of AIP and its partner, aryl hydrocarbon receptor (AHR), was determined by semiquantitative immunohistochemistry scoring in 62 sporadic GH-PA (37 treated with SSA preoperatively). | biomarker | {
"id": 6750,
"name": "SST",
"pos": [
98,
12
]
} | {
"id": "C0032000",
"name": "Pituitary Adenoma",
"pos": [
73,
2
]
} |
Association of a new polymorphism in ALOX12 gene with bipolar disorder. | genomic_alterations | {
"id": 239,
"name": "ALOX12",
"pos": [
37,
6
]
} | {
"id": "C0005586",
"name": "Bipolar Disorder",
"pos": [
54,
16
]
} |
For FA(C) hematopoietic cell infection, vector supernatant transduction in the presence of recombinant human IL-3, IL-6, and SCF was found to be superior to transduction supported by autologous FA(C) patient stroma. | biomarker | {
"id": 3562,
"name": "IL3",
"pos": [
109,
4
]
} | {
"id": "C3469521",
"name": "FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)",
"pos": [
4,
2
]
} |
The co-aggregation of PFN1 bearing mutations that cause ALS with TDP-43 (a key molecule in both sporadic and some familial forms of ALS), together with the classical TDP-43 pathology detected in post-mortem tissues of patients with autosomal dominant PFN1 mutation, imply that gain-of-toxic-function of PFN1 mutants is associated with the onset of ALS. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
166,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
96,
8
]
} |
Defects involving PD-1 and Tregs can lead to the development of pathological conditions, including autoimmune disorders or promote cancer progression by favoring tumor evasion from the host immune response. | genomic_alterations | {
"id": 5133,
"name": "PDCD1",
"pos": [
18,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
162,
5
]
} |
Since neither expression of wild-type nor mutant CALHM1 affected amyloid ß-peptide (Aß) production or Aß-mediated cellular toxicity, we conclude that rare genetic variants in CALHM1 lead to Ca(2+) dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical Aß cascade. | NA | {
"id": 255022,
"name": "CALHM1",
"pos": [
175,
6
]
} | {
"id": "C0002726",
"name": "Amyloidosis",
"pos": [
65,
7
]
} |
Our results suggest a broader clinical heterogeneity related to LRRK2 mutations and points towards TDP as a subtype within the spectrum of PD, in which disabling tremor but otherwise mild parkinsonian signs and a better prognosis are the main characteristics. | genomic_alterations | {
"id": 120892,
"name": "LRRK2",
"pos": [
64,
5
]
} | {
"id": "C0030567",
"name": "Parkinson Disease",
"pos": [
139,
2
]
} |
In this study, dendrimer type bio-reducible polymer (PAM-ABP) which was synthesized using arginine grafted bio-reducible poly(cystaminebisacrylamide-diaminohexane) (ABP) and polyamidoamine (PAMAM) was used to deliver anti-VEGF siRNA into cancer cell lines including human hepatocarcinoma (Huh-7), human lung adenocarcinoma (A549), and human fibrosarcoma (HT1080) cells and access their potential as a siRNA delivery carrier for cancer therapy. | NA | {
"id": 26,
"name": "AOC1",
"pos": [
165,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
303,
19
]
} |
We further examined the association of CYP2D6*4 homozygosity with red/blonde hair by classifying patients on the basis of homo- or heterozygosity for wild-type or val92met, asp294his or asp84glu melanocyte stimulating hormone receptor (MC1R) alleles. | NA | {
"id": 3164,
"name": "NR4A1",
"pos": [
218,
16
]
} | {
"id": "C0239801",
"name": "Blonde hair",
"pos": [
70,
11
]
} |
Early onset cataract is otherwise rare in POLG-related disorders and so far reported only in a few patients with the clinical pattern of distal myopathy or neuromyopathy. | genomic_alterations | {
"id": 5428,
"name": "POLG",
"pos": [
42,
4
]
} | {
"id": "C0751336",
"name": "Distal Muscular Dystrophies",
"pos": [
137,
15
]
} |
Furthermore, Syk tyrosine kinase, recently implicated in NLRP3 activation during fungal and malarial infections, was necessary for mediating the ESAT-6-promoted necrosis and NLRP3 activation. | NA | {
"id": 2096,
"name": "ESAT",
"pos": [
145,
4
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
101,
10
]
} |
The interaction between GSTP1 105Val mutation and smoking in the development of lung cancer were not detected, nor was hOGG1 326Cys mutation. | NA | {
"id": 4968,
"name": "OGG1",
"pos": [
119,
5
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
50,
7
]
} |
On the contrary, children with FLG mutations had a significantly higher risk for eczema if they had elder siblings. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
31,
3
]
} | {
"id": "C0013595",
"name": "Eczema",
"pos": [
81,
6
]
} |
To determine the effective contribution of PFN1 mutations in SALS, we analyzed a large cohort of 1168 Italian SALS patients and also included 203 frontotemporal dementia (FTD) cases because of the great overlap between these 2 neurodegenerative diseases. | genomic_alterations | {
"id": 5216,
"name": "PFN1",
"pos": [
43,
4
]
} | {
"id": "C0524851",
"name": "Neurodegenerative Disorders",
"pos": [
227,
26
]
} |
Multifactorial models based on an exhaustive view of all hormonal events throughout the reproductive life (rather than on a specific exposure to a given steroid) together with other risk factors (notably genetic risk factors related to estrogen receptor polymorphisms) should be explored to clarify the role of hormonal risk factors, or protective factors for cognitive dysfunction and dementia. | genomic_alterations | {
"id": 2099,
"name": "ESR1",
"pos": [
236,
17
]
} | {
"id": "C0338656",
"name": "Impaired cognition",
"pos": [
360,
21
]
} |
We previously reported frequent truncating mutations of the RNA-binding protein gene, La ribonucleoprotein domain family, member-7 (LARP7) in gastric cancers (GCs) with frequent microsatellite instability. | NA | {
"id": 51574,
"name": "LARP7",
"pos": [
132,
5
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
178,
26
]
} |
The frequency of the RANTES-403G allele was significantly higher in patients with stenosis >70% (OR, 2.45; 95% CI 1.12-5.71; p=0.015). | genomic_alterations | {
"id": 6352,
"name": "CCL5",
"pos": [
21,
6
]
} | {
"id": "C1261287",
"name": "Stenosis",
"pos": [
82,
8
]
} |
This is the first report demonstrating that longstanding severe iron overload is frequently associated with epigenetic defects characteristic of HCC, which reflects the increased risk of these lesions to progress to HCC. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
216,
3
]
} | {
"id": "C0282193",
"name": "Iron Overload",
"pos": [
64,
13
]
} |
There were no relationships among K-RAS gene mutations and gender, pathology, smoking, differentiation and stage. | NA | {
"id": 3845,
"name": "KRAS",
"pos": [
34,
10
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
78,
7
]
} |
Based on a recurrent translocation t(11;16)(q13;p13), the C11orf95-MKL2 fusion gene has been found in a few cases. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
48,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
21,
13
]
} |
Tumors were measured biweekly over 4 weeks, at which time the mice were killed, and tumor samples were analyzed for proliferation (Ki-67 immunohistochemical analysis), vascularization (factor VIII staining), and apoptosis (TUNEL [terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate-biotin nick end labeling] assay). | NA | {
"id": 2157,
"name": "F8",
"pos": [
185,
11
]
} | {
"id": "C0027686",
"name": "Pathologic Neovascularization",
"pos": [
168,
15
]
} |
Under hypoxic conditions, the overexpression of PGIS led to upregulated expression of cyclooxigenase-2 and peroxisome proliferator-activated receptor delta, following a 40% increased rate of proliferation in MSCs. | NA | {
"id": 5740,
"name": "PTGIS",
"pos": [
48,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
6,
7
]
} |
To investigate a case of early spontaneous abortion in a family carrying mutations in SCO2. | NA | {
"id": 9997,
"name": "SCO2",
"pos": [
86,
4
]
} | {
"id": "C0000786",
"name": "Spontaneous abortion",
"pos": [
31,
20
]
} |
Induction of BAIAP3 by the EWS-WT1 chimeric fusion implicates regulated exocytosis in tumorigenesis. | NA | {
"id": 2130,
"name": "EWSR1",
"pos": [
27,
3
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
86,
13
]
} |
In melanoma patients, objective response rate [complete and partial response (CR+PR)] was 14%, mixed response was 5%, and disease stabilization was 52%, amounting to a clinical benefit rate (CBR) of 72% in melanoma patients. | NA | {
"id": 873,
"name": "CBR1",
"pos": [
191,
3
]
} | {
"id": "C0025202",
"name": "melanoma",
"pos": [
206,
8
]
} |
P-selectin and E-selectin have been reported as adhesion molecules that mediate the cell-cell interaction of endothelial cells and melanoma cells. | NA | {
"id": 6401,
"name": "SELE",
"pos": [
15,
10
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
48,
8
]
} |
Mandibuloacral dysplasia type A (MADA; OMIM 248370), a rare disorder caused by mutation in the LMNA gene, is characterized by post-natal growth retardation, craniofacial and skeletal anomalies (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, low bone mass and joint contractures), cutaneous changes and partial lipodystrophy. | NA | {
"id": 4000,
"name": "LMNA",
"pos": [
95,
9
]
} | {
"id": "C0151686",
"name": "Growth retardation",
"pos": [
137,
18
]
} |
IFN-gamma-mediated effector mechanisms may involve effects on the metabolism of tryptophan or iron, on the inducible NO synthase (iNOS), on the secretion of chemokines and adhesion molecules or on the regulation of T-cell activities. | NA | {
"id": 3439,
"name": "IFNA1",
"pos": [
0,
3
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
172,
8
]
} |
However, we were unable to identify a specific clinical maker of VPS35 patients, who otherwise resemble sporadic PD patients. | NA | {
"id": 55737,
"name": "VPS35",
"pos": [
65,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
104,
8
]
} |
Thus, we identified a new epithelial cell differentiation switch involving Myc, Pten, and ING4, which when disrupted leads to prostate tumorigenesis. | NA | {
"id": 51147,
"name": "ING4",
"pos": [
90,
4
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
135,
13
]
} |
TGFBIp increased both CCL21 expression in LECs, a chemokine that actively recruits tumor cells expressing the cognate chemokine receptors to lymphatic vessels and LEC permeability by inducing the dissociation of VE-cadherin junctions between LECs via the activation of SRC signaling. | NA | {
"id": 6714,
"name": "SRC",
"pos": [
269,
3
]
} | {
"id": "C0086168",
"name": "Dissociation",
"pos": [
196,
12
]
} |
We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation. | NA | {
"id": 1282,
"name": "COL4A1",
"pos": [
66,
6
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
29,
8
]
} |
Correspondingly, in Cplx2 -null mutant mice, prominent cognitive loss of function was obtained only in combination with a minor brain lesion applied during puberty, modeling a clinically relevant environmental risk ("second hit") for schizophrenia. | NA | {
"id": 10814,
"name": "CPLX2",
"pos": [
20,
5
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
224,
3
]
} |
Patients with longer repeat lengths, such as (GCG)(13), developed severe limb weakness early in the disease. | NA | {
"id": 2641,
"name": "GCG",
"pos": [
46,
3
]
} | {
"id": "C0587246",
"name": "Muscle weakness of limb",
"pos": [
73,
13
]
} |
Germline mutations in mismatch repair genes, predominantly MSH2 and MLH1, have been found to underlie the Lynch syndrome (also called hereditary non-polyposis colorectal cancer, HNPCC), a hereditary predisposition for cancer. | genomic_alterations | {
"id": 4292,
"name": "MLH1",
"pos": [
68,
4
]
} | {
"id": "C4722085",
"name": "Malignant neoplasm of colon and/or rectum",
"pos": [
159,
17
]
} |
15(S)-HETE by inducing HMG-CoA reductase expression caused increased farnesylation and membrane translocation of Rac1 where it became activated by Src-dependent αPix stimulation. | NA | {
"id": 9459,
"name": "ARHGEF6",
"pos": [
161,
4
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
96,
13
]
} |
Low-dose methoxyflurane analgesia in adolescent patients with moderate-to-severe trauma pain: a subgroup analysis of the STOP! study. | genomic_alterations | {
"id": 4135,
"name": "MAP6",
"pos": [
121,
4
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
88,
4
]
} |
Using an anoxia model of cardiomyocytes with deficiency in ALDH2 activities, we observed prominent cardiomyocyte apoptosis and increased accumulation of the reactive aldehyde 4-hydroxy-2-nonenal (4-HNE). | NA | {
"id": 217,
"name": "ALDH2",
"pos": [
59,
5
]
} | {
"id": "C0003130",
"name": "Anoxia",
"pos": [
9,
6
]
} |
This fusion has recently been described as a variant translocation in low-grade fibromyxoid sarcoma (LGFMS), a tumor more typically characterized by a recurrent t(7;16) chromosomal translocation, resulting in the fusion of FUS and CREB3L2 genes. | NA | {
"id": 64764,
"name": "CREB3L2",
"pos": [
231,
7
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
169,
25
]
} |
Adipose tissue of DPP4- rats demonstrated increased adipocyte maturation and increased expression of enzymes involved in triglyceride uptake and synthesis, yet increased adiponectin mRNA, reduced mRNA of proinflammatory cytokines and reduced vascular adhesion molecules, suggesting reduced inflammation. | NA | {
"id": 1803,
"name": "DPP4",
"pos": [
18,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
290,
12
]
} |
TAS2R38 gene variants are associated with alterations in individual sensitivity to bitter taste and food intake; hence, these genetic variants may modify the risk for diet-related diseases, including cancer. | genomic_alterations | {
"id": 5726,
"name": "TAS2R38",
"pos": [
0,
7
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
200,
6
]
} |
Other phenotypic features - immune deficiency for STAT5B defects and insulin insensitivity for IGFALS defects - are of note. | NA | {
"id": 6777,
"name": "STAT5B",
"pos": [
50,
6
]
} | {
"id": "C1864570",
"name": "Insulin insensitivity",
"pos": [
69,
21
]
} |
IgM antibody- and IgG antibody-capture enzyme-linked immunosorbent assays (MAC/GAC-ELISAs) targeted at envelope protein (E) of dengue viruses (DENV), West Nile virus, and Japanese encephalitis virus (JEV) are widely used as serodiagnostic tests for presumptive confirmation of viral infection. | NA | {
"id": 4082,
"name": "MARCKS",
"pos": [
75,
3
]
} | {
"id": "C0042769",
"name": "Virus Diseases",
"pos": [
277,
15
]
} |
The independent and joint effects of serum CRP and CFH (rs1061170) and ARMS2/HTRA1 (rs10490924) genotypes were assessed using logistic regression analyses, adjusting for age, gender, education, smoking, body mass index, and vitamin/mineral supplementation. | NA | {
"id": 1401,
"name": "CRP",
"pos": [
43,
3
]
} | {
"id": "C0037369",
"name": "Smoking",
"pos": [
194,
7
]
} |
We demonstrated that PHF1 promotes cell proliferation, invasion, and tumorigenesis in vivo and in vitro and found that its expression is markedly upregulated in a variety of human cancers. | biomarker | {
"id": 5252,
"name": "PHF1",
"pos": [
21,
4
]
} | {
"id": "C0596263",
"name": "Carcinogenesis",
"pos": [
69,
13
]
} |
Somatic mutations in SETBP1 gene have recently been detected in hematologic malignancies. | genomic_alterations | {
"id": 26040,
"name": "SETBP1",
"pos": [
21,
6
]
} | {
"id": "C0376545",
"name": "Hematologic Neoplasms",
"pos": [
64,
24
]
} |
Stronger expression of cyclin B2 mRNA in tumor cells is an independent predictor of a poor prognosis in patients with adenocarcinoma of lung. | NA | {
"id": 9133,
"name": "CCNB2",
"pos": [
23,
9
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
118,
22
]
} |
MMP-2-Sensitive HA End-Conjugated Poly(amidoamine) Dendrimers via Click Reaction To Enhance Drug Penetration into Solid Tumor. | biomarker | {
"id": 4313,
"name": "MMP2",
"pos": [
0,
5
]
} | {
"id": "C0279068",
"name": "Childhood Solid Neoplasm",
"pos": [
114,
11
]
} |
GSTT1 null and NQO1 genotype in cervical cell samples may be associated with more severe precancerous lesions of the cervix in a Japanese population. | genomic_alterations | {
"id": 1728,
"name": "NQO1",
"pos": [
15,
4
]
} | {
"id": "C0940937",
"name": "precancerous lesions",
"pos": [
89,
20
]
} |
The Simpson-Golabi-Behmel gene, GPC3, is not involved in sporadic Wilms tumorigenesis. | NA | {
"id": 2719,
"name": "GPC3",
"pos": [
32,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
57,
8
]
} |
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