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The expression and distribution of ret proto-oncogene mRNA were investigated in five phaeochromocytomas of both familial and sporadic types by in situ hybridization (ISH) using digoxigenin-labelled cRNA probes and Northern blot (NB) analysis with random priming labelled cDNA probes. | NA | {
"id": 5979,
"name": "RET",
"pos": [
35,
18
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
125,
8
]
} |
We demonstrated that underexpression of ARHI occurs principally in FTCs (P = 0.0018), including its oncocytic variant (11 of 13), even at minimally invasive stage but not classic papillary thyroid carcinoma (two of seven) or follicular adenoma (FA) (three of 14). | NA | {
"id": 9077,
"name": "DIRAS3",
"pos": [
40,
4
]
} | {
"id": "C0238463",
"name": "Papillary thyroid carcinoma",
"pos": [
179,
27
]
} |
While in vitro, following release of breast cancer cell lines from serum starvation, the expression of Emi1, Skp2, phosphor-Akt (p-Akt) was up-regulated, whereas p27(Kip1) was down-regulated. | NA | {
"id": 6502,
"name": "SKP2",
"pos": [
109,
4
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
73,
10
]
} |
Despite our extensive genomic analysis, the data revealed no functionally relevant cosmc gene variants in sporadic or familial IgAN cases. | NA | {
"id": 29071,
"name": "C1GALT1C1",
"pos": [
83,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
106,
8
]
} |
When BIG3 was absent, stimulation of estradiol caused the translocation of PHB2/REA to the nucleus, enhanced the interaction of PHB2/REA and ERalpha, and resulted in suppression of the ERalpha transcriptional activity. | NA | {
"id": 11331,
"name": "PHB2",
"pos": [
133,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
58,
13
]
} |
We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease. | NA | {
"id": 1285,
"name": "COL4A3",
"pos": [
121,
11
]
} | {
"id": "C0011053",
"name": "Deafness",
"pos": [
250,
8
]
} |
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family. | genomic_alterations | {
"id": 1277,
"name": "COL1A1",
"pos": [
8,
6
]
} | {
"id": "C0029434",
"name": "Osteogenesis Imperfecta",
"pos": [
41,
23
]
} |
To clarify whether reduced cholesteryl ester transfer protein (CETP) activity carries inherent blood pressure risks and to infer whether the increased blood pressure and elevated mortality associated with torcetrapib are idiosyncratic or characteristic of this class of drugs. | NA | {
"id": 1071,
"name": "CETP",
"pos": [
63,
4
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
151,
14
]
} |
We aimed to report the clinical picture of two asymptomatic daughters of a patient with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. | NA | {
"id": 5173,
"name": "PDYN",
"pos": [
152,
4
]
} | {
"id": "C0231221",
"name": "Asymptomatic",
"pos": [
47,
12
]
} |
A total of 105 sporadic breast carcinomas were analysed for LOH in the regions of BRCA1, BRCA2, TP53, Caveolin1, "putative BRCA3", PTEN, ATM and E-cadherin and correlated it with clinicopathological features. | NA | {
"id": 472,
"name": "ATM",
"pos": [
137,
3
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
15,
8
]
} |
The expression of six chromosome 3p21.3 candidate tumor suppressor genes (BLU, FUS2, HYAL2, NPRL2, RASSF1A, and SEMA3B) in esophageal squamous cell carcinoma (ESCC) has been investigated. | NA | {
"id": 24142,
"name": "NAA80",
"pos": [
79,
4
]
} | {
"id": "C0279626",
"name": "Squamous cell carcinoma of esophagus",
"pos": [
123,
34
]
} |
A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. | genomic_alterations | {
"id": 4594,
"name": "MMUT",
"pos": [
23,
24
]
} | {
"id": "C0268583",
"name": "Methylmalonic acidemia",
"pos": [
152,
22
]
} |
The present study aimed to investigate the expression of SHARPIN protein and <i>SHARPIN</i> mutations in NMSC. | genomic_alterations | {
"id": 81858,
"name": "SHARPIN",
"pos": [
57,
7
]
} | {
"id": "C0699893",
"name": "Skin carcinoma",
"pos": [
117,
4
]
} |
These data indicate that WAT macrophages are a source of OSM and that OSM levels are significantly induced in murine and human obesity/type 2 diabetes mellitus. | NA | {
"id": 83605,
"name": "CCM2",
"pos": [
70,
3
]
} | {
"id": "C0011860",
"name": "Diabetes Mellitus, Non-Insulin-Dependent",
"pos": [
135,
24
]
} |
The decrease in Gal1 expression also impairs the expression levels of seven other genes implicated in chemoresistance: ORP150, HERP, GRP78/Bip, TRA1, BNIP3L, GADD45B and CYR61, some of which are located in the ER and whose expression is also known to be modified by hypoxia. | NA | {
"id": 7184,
"name": "HSP90B1",
"pos": [
144,
4
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
266,
7
]
} |
For example, dominant and recessive mutations in HESX1 may be associated with septo-optic dysplasia, combined pituitary hormone deficiency (CPHD) and isolated growth hormone (GH) deficiency. | NA | {
"id": 8820,
"name": "HESX1",
"pos": [
49,
5
]
} | {
"id": "C0857439",
"name": "Pituitary hormone deficiency",
"pos": [
110,
28
]
} |
To study electroretinographic (ERG) response to light flashes in patients with choroidal melanoma and to define possible factors involved in the modification of both a- and b-wave.ISCEV standard flash-ERG was recorded from both affected and control eyes on 24 patients before surgical operation (local excision or enucleation). | NA | {
"id": 2078,
"name": "ERG",
"pos": [
201,
3
]
} | {
"id": "C0346388",
"name": "Malignant melanoma of choroid",
"pos": [
79,
18
]
} |
Aldosterone was infused to achieve pathologically relevant levels that did not increase blood pressure in the atherosclerosis-prone apolipoprotein E-knockout mouse (ApoE-/-). | NA | {
"id": 348,
"name": "APOE",
"pos": [
132,
16
]
} | {
"id": "C0005823",
"name": "Blood Pressure",
"pos": [
88,
14
]
} |
miR-145, a newly identified microRNA molecule, is hypothesized to function as a tumor suppressor, but this activity has not been investigated in esophageal l carcinoma (EC). | NA | {
"id": 406937,
"name": "MIR145",
"pos": [
0,
7
]
} | {
"id": "C0014852",
"name": "Esophageal Diseases",
"pos": [
145,
10
]
} |
Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. | genomic_alterations | {
"id": 2516,
"name": "NR5A1",
"pos": [
74,
22
]
} | {
"id": "C0010417",
"name": "Cryptorchidism",
"pos": [
15,
14
]
} |
At 34 weeks of age Imai rats showed heavy proteinuria, hypoalbuminemia, hypertension, azotemia, glomerulosclerosis, tubulointerstitial inflammation, increased angiotensin II expressing cell population, up-regulations of AT1 receptor, AT2 receptor, NAD(P)H oxidase, and inflammatory mediators, activation of nuclear factor-κB and reduction of Nrf2 activity and expression of its downstream gene products in the renal cortex. | NA | {
"id": 183,
"name": "AGT",
"pos": [
159,
14
]
} | {
"id": "C0242528",
"name": "Azotemia",
"pos": [
86,
8
]
} |
We investigated whether human chemokine receptor gene polymorphisms, namely CCR5-Delta32 and CCR2-64I, are associated with susceptibility to autoimmune Addison's disease. | genomic_alterations | {
"id": 729230,
"name": "CCR2",
"pos": [
93,
4
]
} | {
"id": "C0271737",
"name": "Addison's disease due to autoimmunity",
"pos": [
141,
28
]
} |
In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system. | NA | {
"id": 79901,
"name": "CYBRD1",
"pos": [
115,
5
]
} | {
"id": "C0878682",
"name": "Ceruloplasmin deficiency",
"pos": [
184,
18
]
} |
Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. | NA | {
"id": 84168,
"name": "ANTXR1",
"pos": [
132,
3
]
} | {
"id": "C0036857",
"name": "Severe intellectual disability",
"pos": [
30,
25
]
} |
Since PA and DAG regulate Ca(2+) movements, we examined PLD2 and PAP2 in the sarcolemma (SL) and sarcoplasmic reticular (SR) membranes from hearts subjected to ischemia and reperfusion (I-R). | NA | {
"id": 5338,
"name": "PLD2",
"pos": [
56,
4
]
} | {
"id": "C0022116",
"name": "Ischemia",
"pos": [
160,
8
]
} |
A polymorphic CfoI restriction enzyme site in the coding region of the LMP2 gene was evaluated in genomic DNA samples from 193 white and 49 Chinese B27 individuals with well documented AS, 97 of whom had had acute anterior uveitis (AAU) and 97 peripheral arthritis; 42 samples from normal, white, B27 positive blood donors in whom AS was excluded were also evaluated. | NA | {
"id": 56246,
"name": "MRAP",
"pos": [
297,
3
]
} | {
"id": "C0701807",
"name": "Acute anterior uveitis",
"pos": [
208,
22
]
} |
The clinical significance of a pure BP1-BP2 microdeletion has been debated, however, our patients shared several clinical features, including delayed motor and speech development, dysmorphisms and behavioural problems (ADHD, autism, obsessive-compulsive behaviour). | NA | {
"id": 1748,
"name": "DLX4",
"pos": [
36,
3
]
} | {
"id": "C0600104",
"name": "Obsessive compulsive behavior",
"pos": [
243,
20
]
} |
Furthermore, in another series of 11 patients and a NHL cell line, we demonstrated t(14;18) and t(11;14) in interphase and metaphase cells with a combination of BCL2 (or PRAD1) with IgH gene probes. | genomic_alterations | {
"id": 3492,
"name": "IGH",
"pos": [
182,
3
]
} | {
"id": "C0024305",
"name": "Lymphoma, Non-Hodgkin",
"pos": [
52,
3
]
} |
Finally, experimental induction of GvHD in complement C3-deficient mice confirms the link between Gp96 and complement C3 in the serum and with the severity of the disease. | biomarker | {
"id": 7184,
"name": "HSP90B1",
"pos": [
98,
4
]
} | {
"id": "C0856825",
"name": "Acute GVH disease",
"pos": [
35,
4
]
} |
The influence of the ACE I/D gene polymorphism on LV function is modulated by infarction status and coronary anatomy. | NA | {
"id": 1636,
"name": "ACE",
"pos": [
21,
3
]
} | {
"id": "C0021308",
"name": "Infarction",
"pos": [
78,
10
]
} |
Tr1 induced by COX-2(+) tumor were more suppressive, hydrolyzed more exogenous ATP (p < 0.05), and produced higher levels of adenosine and PGE(2) (p < 0.05) than Tr1 induced by COX-2(-) tumor. | NA | {
"id": 80835,
"name": "TAS1R1",
"pos": [
162,
3
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
186,
5
]
} |
As observed previously for a different germline mutation of p53, animals homozygous for this p53 deletion mutation are viable but highly predisposed to malignancy. | genomic_alterations | {
"id": 7157,
"name": "TP53",
"pos": [
93,
3
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
152,
10
]
} |
LEL-HCC did not differ in frequencies of microsatellite instability, BRAF mutation, and DNA hypermethylation. | NA | {
"id": 84668,
"name": "FAM126A",
"pos": [
4,
3
]
} | {
"id": "C0920269",
"name": "Microsatellite Instability",
"pos": [
41,
26
]
} |
Pseudogene PTENP1 functions as a competing endogenous RNA to suppress clear-cell renal cell carcinoma progression. | NA | {
"id": 11191,
"name": "PTENP1",
"pos": [
11,
6
]
} | {
"id": "C0007134",
"name": "Renal Cell Carcinoma",
"pos": [
81,
20
]
} |
Three hereditary gastric cancer syndromes have been described; hereditary diffuse gastric cancer (HDGC), familial intestinal gastric cancer (FIGC) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). | NA | {
"id": 56888,
"name": "KCMF1",
"pos": [
141,
4
]
} | {
"id": "C0334108",
"name": "Multiple polyps",
"pos": [
187,
9
]
} |
The t(8;13) translocation has recently been shown to result in a fusion between the FGFR1 gene that encodes a tyrosine kinase receptor for fibroblast growth factors and a novel gene, FIM (also called RAMP or ZNF198), belonging to a novel family of zinc finger genes. | NA | {
"id": 2260,
"name": "FGFR1",
"pos": [
84,
10
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
12,
13
]
} |
The activation of the signaling of transforming grwoth factor-beta (TGF-beta) is thought to cause the pathogenesis for lung and cardiovascular abnormalities in MFS1. | NA | {
"id": 7040,
"name": "TGFB1",
"pos": [
68,
8
]
} | {
"id": "C0243050",
"name": "Cardiovascular Abnormalities",
"pos": [
128,
28
]
} |
Interestingly, WNIN/GR-Ob rats (Mutants), established at National Centre for Laboratory Animals (NCLAS) of National Institute of Nutrition (NIN), form a suitable model system to study obesity with Type 2 diabetes (T2D) demonstrating several secondary complications (cataract, cardiovascular complications, infertility, nephropathy etc). | NA | {
"id": 51199,
"name": "NIN",
"pos": [
140,
3
]
} | {
"id": "C0086543",
"name": "Cataract",
"pos": [
266,
8
]
} |
In contrast to the mechanisms underlying weakness in NEB-based myopathy, which are related to loss of thin-filament functions normally exerted by nebulin, the pathogenesis of muscle weakness in patients with TPM3 mutations remains largely unknown. | genomic_alterations | {
"id": 7170,
"name": "TPM3",
"pos": [
208,
4
]
} | {
"id": "C0151786",
"name": "Muscle Weakness",
"pos": [
175,
15
]
} |
In conclusion, the results from the present study support that NAMPT inhibition can synergize with NQO1 activation to induce apoptotic cell death, thereby providing a new rationale for the development of combinative therapeutic drugs in combating non-small lung cancer. | NA | {
"id": 10135,
"name": "NAMPT",
"pos": [
63,
5
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
257,
11
]
} |
Deficiency of apoER2 in hypercholesterolemic LDL receptor-null mice (Lrp8(-/-)Ldlr(-/-) mice) also resulted in accelerated atherosclerosis with more complex lesions and extensive lesion necrosis compared to Lrp8(+/+)Ldlr(-/-) mice. | NA | {
"id": 7804,
"name": "LRP8",
"pos": [
69,
4
]
} | {
"id": "C0027540",
"name": "Necrosis",
"pos": [
186,
8
]
} |
CISH performs as well as FISH in the analysis of HER-2 gene amplification in breast cancer and might have advantages in certain situations. | NA | {
"id": 9644,
"name": "SH3PXD2A",
"pos": [
25,
4
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
77,
13
]
} |
Gal4-p53 fusion constructs demonstrate that wild type p53 is a potent transactivator in human lung cancer cells with the transactivation domain for p53 residing in amino acids 1-42. | NA | {
"id": 3960,
"name": "LGALS4",
"pos": [
0,
4
]
} | {
"id": "C0684249",
"name": "Carcinoma of lung",
"pos": [
94,
11
]
} |
These studies also have important translational implications since some of the nodal genes identified here are 'druggable' making them appropriate molecular targets for the treatment of breast carcinomas displaying mutant p53, EMT, CIN and high metastatic potential. | genomic_alterations | {
"id": 4838,
"name": "NODAL",
"pos": [
79,
5
]
} | {
"id": "C0678222",
"name": "Breast Carcinoma",
"pos": [
186,
17
]
} |
Coordinate regulation of IFN consensus sequence-binding protein and caspase-1 in the sensitization of human colon carcinoma cells to Fas-mediated apoptosis by IFN-gamma. | NA | {
"id": 834,
"name": "CASP1",
"pos": [
68,
9
]
} | {
"id": "C0699790",
"name": "Colon Carcinoma",
"pos": [
108,
15
]
} |
Importantly, NKR-2 targeted tumour cells and tumour neovasculature and the local tumour immunosuppressive microenvironment and this mechanism of action of NKR-2 was established in the absence of preconditioning. | biomarker | {
"id": 3820,
"name": "KLRB1",
"pos": [
155,
3
]
} | {
"id": "C1519666",
"name": "Tumor-Associated Vasculature",
"pos": [
52,
14
]
} |
Taken together, these results are consistent with a role for proSAAS-derived peptides as neuropeptides that influence body weight independently of their function as inhibitors of prohormone convertase 1. | NA | {
"id": 27344,
"name": "PCSK1N",
"pos": [
61,
7
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
118,
11
]
} |
This establishes a role for dopamine receptor signaling via G protein βγ subunits in glioblastoma invasion and shows that phosphoinositide 3-kinase mutations in glioblastoma require a context of basal G protein-coupled receptor activity in order to promote this invasion. | genomic_alterations | {
"id": 57007,
"name": "ACKR3",
"pos": [
201,
26
]
} | {
"id": "C0017636",
"name": "Glioblastoma",
"pos": [
161,
12
]
} |
Skin prick test (SPT), total IgE levels, atopy (defined as increased IgE levels or SPT positivity or both), bronchial hyperresponsiveness, and clinical asthma were investigated. | NA | {
"id": 189,
"name": "AGXT",
"pos": [
83,
3
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
41,
5
]
} |
To study the association of genetic variants within SLC6A4 with acute and posttraumatic stress symptoms in a civilian cohort with known levels of preexisting trauma and PTSD symptoms collected prior to a shared index traumatic event. | genomic_alterations | {
"id": 6532,
"name": "SLC6A4",
"pos": [
52,
6
]
} | {
"id": "C0521991",
"name": "Symptoms of stress",
"pos": [
88,
15
]
} |
Overexpression of SATB1 in MCF‑7 cells was observed to increase mammosphere formation, the size of the BCSC population, cell invasion and tumorigenesis, accompanied by an increase in the activation of Notch signaling and expression levels of Snail1 and Twist1. | NA | {
"id": 7291,
"name": "TWIST1",
"pos": [
253,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
138,
13
]
} |
Therewith, our data suggest a new role of c-Jun and PDK1 in mediating epithelial cell hyperplasia induced by PGE2. | NA | {
"id": 3725,
"name": "JUN",
"pos": [
42,
5
]
} | {
"id": "C0020507",
"name": "Hyperplasia",
"pos": [
86,
11
]
} |
Consistent with a role for SET in cell proliferation, set mRNA expression was markedly reduced in cells rendered quiescent by serum starvation, contact inhibition, or differentiation. | NA | {
"id": 6418,
"name": "SET",
"pos": [
27,
3
]
} | {
"id": "C0038187",
"name": "Starvation",
"pos": [
132,
10
]
} |
Acute myeloblastic leukemia cases carrying the translocation t(8;16) (p11;p13) are characterized by the M4 and M5 subtypes, erythrophagocytosis by the blast cells and a poor prognosis, suggesting a new clinical entity. | NA | {
"id": 51013,
"name": "EXOSC1",
"pos": [
74,
3
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
47,
13
]
} |
IDH1 mutations have been identified as a recurrent genetic anomaly in acute myeloid leukemia and myelodysplastic syndromes. | genomic_alterations | {
"id": 3417,
"name": "IDH1",
"pos": [
0,
4
]
} | {
"id": "C3463824",
"name": "MYELODYSPLASTIC SYNDROME",
"pos": [
97,
25
]
} |
Short interfering RNA-based transfection of A549 and SK-LU1 lung adenocarcinoma cells was successful in inducing a reduction in bcl-xL expression levels, resulting in a decrease in cell viability. | NA | {
"id": 57595,
"name": "PDZD4",
"pos": [
56,
3
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
60,
19
]
} |
Next, we employed adenovirus-mediated overexpression of HMGN5 in U-2OS and MG63 to investigate the role of HMGN5 in osteosarcoma cell lines. | NA | {
"id": 79366,
"name": "HMGN5",
"pos": [
107,
5
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
18,
10
]
} |
The top hit (rs10868204 Pgenotyped = 1.50x10-6; rs11140653 Pimputed_1000G = 2.90x10-7) for BMI lies 5' of NTRK2, the type 2 neurotrophic tyrosine kinase receptor for brain-derived neurotrophic factor (BDNF) that regulates energy balance downstream of melanocortin-4 receptor (MC4R). | NA | {
"id": 4914,
"name": "NTRK1",
"pos": [
137,
24
]
} | {
"id": "C0272285",
"name": "Heparin-induced thrombocytopenia",
"pos": [
8,
3
]
} |
significantly increased macrophage infiltration and adhesion molecules, monocyte chemoattractant protein-1 and osteopontin mRNA levels in the aorta. | NA | {
"id": 6347,
"name": "CCL2",
"pos": [
72,
34
]
} | {
"id": "C0001511",
"name": "Tissue Adhesions",
"pos": [
52,
8
]
} |
In wild-type fibrosarcoma cells (2fTGH), IFN activates STAT1, STAT2, and STAT3, as well as NF-kappaB complexes comprised of p50 and p65. | NA | {
"id": 6774,
"name": "STAT3",
"pos": [
73,
5
]
} | {
"id": "C0016057",
"name": "Fibrosarcoma",
"pos": [
13,
12
]
} |
The SKY has been applied to various tumor groups including hematological malignancies, sarcomas, carcinomas and brain tumors, with the intent of identifying specific chromosomal abnormalities that may provide insight to the genes involved in the disease process as well as identifying recurrent cytogenetic markers for clinical diagnosis and prognostic assessment. | NA | {
"id": 57465,
"name": "TBC1D24",
"pos": [
4,
3
]
} | {
"id": "C0376545",
"name": "Hematologic Neoplasms",
"pos": [
59,
26
]
} |
By evaluating the molecular pathways of senescence in relation to proliferative potential of primary keratinocyte cultures from young and old healthy donors, and from young patients with inherited defects leading to premature aging, we demonstrated that p16(INK4a) is a reliable marker of both physiological and premature epidermal aging. | NA | {
"id": 1029,
"name": "CDKN2A",
"pos": [
258,
5
]
} | {
"id": "C0001811",
"name": "Aging",
"pos": [
332,
5
]
} |
These results also suggest that suppression of YDJC or boosting of CDC16 interaction with YDJC might be a novel way to prevent progression of lung cancer. | biomarker | {
"id": 8881,
"name": "CDC16",
"pos": [
67,
5
]
} | {
"id": "C0242379",
"name": "Malignant neoplasm of lung",
"pos": [
142,
11
]
} |
Patients with BRCA1-associated breast cancer had twice as many progesterone-receptor-negative tumours (p<0.005) and development of contralateral breast cancer was four to five times as frequent as in the sporadic group (p<0.001). | NA | {
"id": 672,
"name": "BRCA1",
"pos": [
14,
5
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
204,
8
]
} |
As expected, in the affected child we found a lack of IL-17RA expression, which implies a severe malfunction in the IL-17 signaling pathway, conferring susceptibility to recurrent mucocutaneous infections. | NA | {
"id": 23765,
"name": "IL17RA",
"pos": [
54,
7
]
} | {
"id": "C3714514",
"name": "Infection",
"pos": [
194,
10
]
} |
We discovered that DAB2IP, a novel Ras-GTPase-activating protein, was frequently epigenetically silenced in RCC, and DAB2IP loss was correlated with the overall survival of RCC patients. | biomarker | {
"id": 153090,
"name": "DAB2IP",
"pos": [
117,
6
]
} | {
"id": "C0279702",
"name": "Conventional (Clear Cell) Renal Cell Carcinoma",
"pos": [
173,
3
]
} |
Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients. | biomarker | {
"id": 54968,
"name": "TMEM70",
"pos": [
94,
6
]
} | {
"id": "C2973725",
"name": "Pulmonary arterial hypertension",
"pos": [
11,
31
]
} |
IL-17A levels were significantly upregulated in both atopic (p < 0.01) and nonatopic (p < 0.05) patients versus controls. | NA | {
"id": 3605,
"name": "IL17A",
"pos": [
0,
6
]
} | {
"id": "C0392707",
"name": "Atopy",
"pos": [
53,
6
]
} |
Mitochondrial dysfunction and decrease in body weight of a transgenic knock-in mouse model for TDP-43. | NA | {
"id": 23435,
"name": "TARDBP",
"pos": [
95,
6
]
} | {
"id": "C0005910",
"name": "Body Weight",
"pos": [
42,
11
]
} |
Quantitative real-time reverse transcriptase-polymerase chain reaction and immunohistochemistry showed that Cldn7 was overexpressed in all 10 Tff1-/- gastric dysplasia samples. | NA | {
"id": 1366,
"name": "CLDN7",
"pos": [
108,
5
]
} | {
"id": "C0267111",
"name": "Gastric dysplasia",
"pos": [
150,
17
]
} |
Together, these data demonstrate that Drp1 association with filamin and the actin cytoskeleton contributes to cardiac fragility after MI and suggests a potential repurposing of cilnidipine, as well as provides a starting point for innovative Drp1 inhibitor development. | biomarker | {
"id": 60,
"name": "ACTB",
"pos": [
76,
5
]
} | {
"id": "C0027051",
"name": "Myocardial Infarction",
"pos": [
134,
2
]
} |
To investigate the clinicopathological significance of SIX1 protein expression in gastric adenocarcinomas (GAC), localization of the SIX1 protein was determined in MKN-1, a gastric cancer cell line, using immunofluorescence (IF) staining; SIX1 mRNA level was detected in fresh tissues of GAC and normal gastric mucosa using quantitative real-time polymerase chain reaction (qRT-PCR); and SIX1 protein expression was assessed in 163 GAC, 35 gastric dysplasia and 26 normal gastric mucosa using immunohistochemical (IHC) staining. | NA | {
"id": 6495,
"name": "SIX1",
"pos": [
388,
4
]
} | {
"id": "C0267111",
"name": "Gastric dysplasia",
"pos": [
440,
17
]
} |
A cohort of 23 patients undergoing a combined procedure of HTO (fixation with angular stable internal fixator, Tomofix<sup>®</sup>), ACLR and CR for the treatment of severe symptomatic medial osteoarthritis, ACL insufficiency and varus alignment (> 4°) between 2005 and 2009 was prospectively surveyed with a minimum follow-up of 10 years with regard to survival (not requiring arthroplasty), functional outcome (subjective IKDC score), pain level (numeric rating scale), Oxford Knee Score (OKS) and subjective satisfaction. | genomic_alterations | {
"id": 47,
"name": "ACLY",
"pos": [
220,
3
]
} | {
"id": "C0030193",
"name": "Pain",
"pos": [
452,
4
]
} |
p53 mutations were detected in only one case of papillary carcinoma (3%, 1/31: exon 8, codon 266 GGA-->GAA). | NA | {
"id": 2548,
"name": "GAA",
"pos": [
103,
3
]
} | {
"id": "C0007133",
"name": "Carcinoma, Papillary",
"pos": [
48,
19
]
} |
Mutations of ZFHX1B are frequently associated with other congenital anomalies, including congenital heart disease, hypospadias, renal tract anomalies, and agenesis of the corpus callosum (ACC). | genomic_alterations | {
"id": 9839,
"name": "ZEB2",
"pos": [
13,
6
]
} | {
"id": "C0000768",
"name": "Congenital Abnormality",
"pos": [
57,
20
]
} |
We investigated the regulatory role of SIRT1 in HMGB1 nucleocytoplasmic translocation and its effect on sepsis-induced liver injury. | NA | {
"id": 3146,
"name": "HMGB1",
"pos": [
48,
5
]
} | {
"id": "C0040715",
"name": "Chromosomal translocation",
"pos": [
72,
13
]
} |
The hypoxia-regulated transcription factor DEC1 (Stra13, SHARP-2) and its expression in human tissues and tumours. | NA | {
"id": 201254,
"name": "CENPX",
"pos": [
49,
6
]
} | {
"id": "C0242184",
"name": "Hypoxia",
"pos": [
4,
7
]
} |
Most of the reported cases of PSP/FADS related to vascular compromise are sporadic, but familial cases have also been reported. | NA | {
"id": 80308,
"name": "FLAD1",
"pos": [
34,
4
]
} | {
"id": "C1853237",
"name": "Isolated cases",
"pos": [
74,
8
]
} |
Among the 302 patients included, 267 (89%) were diagnosed with stage IIIB/IV NSCLC and 25 (8%) harbored a STK11 mutation (STK11mut). | genomic_alterations | {
"id": 6794,
"name": "STK11",
"pos": [
106,
5
]
} | {
"id": "C0007131",
"name": "Non-Small Cell Lung Carcinoma",
"pos": [
77,
5
]
} |
Finally, in SCID mice, the numbers of ACHN pulmonary metastases were dramatically reduced by treatment with species-specific human CD40 Ab. | biomarker | {
"id": 55323,
"name": "LARP6",
"pos": [
38,
4
]
} | {
"id": "C0153676",
"name": "Secondary malignant neoplasm of lung",
"pos": [
43,
20
]
} |
In the spinal cord of amyotrophic lateral sclerosis (ALS) mice, oligodendrocytes downregulate transporters that transfer glycolytic substrates to neurons and oligodendrocyte progenitors (NG2(+) cells) exhibit enhanced proliferation and differentiation, although the cause of these changes in oligodendroglia is unknown. | NA | {
"id": 1464,
"name": "CSPG4",
"pos": [
187,
3
]
} | {
"id": "C0002736",
"name": "Amyotrophic Lateral Sclerosis",
"pos": [
22,
29
]
} |
Exogenous urocortin, given for 12 days after sodium laurate, exacerbated the hypercoagulable state and augmented expression of CRF(1alpha)-receptors, COX-2 and ICAM-1. | NA | {
"id": 7349,
"name": "UCN",
"pos": [
10,
9
]
} | {
"id": "C0398623",
"name": "Thrombophilia",
"pos": [
77,
21
]
} |
Taken together, these findings indicated that the inhibition of TAZ by rottlerin may be a novel strategy for treating HCC. | biomarker | {
"id": 25937,
"name": "WWTR1",
"pos": [
64,
3
]
} | {
"id": "C2239176",
"name": "Liver carcinoma",
"pos": [
118,
3
]
} |
In this study, the expression of the glycodelin protein was analyzed in EGFR-mutant tyrosine kinase inhibitor-sensitive advanced lung adenocarcinoma. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
72,
4
]
} | {
"id": "C0152013",
"name": "Adenocarcinoma of lung (disorder)",
"pos": [
129,
19
]
} |
The neuregulin receptors erbB2 and erbB4 are downregulated at both the message and protein levels at the stage of early failure in animals with chronic hypertrophy secondary to aortic stenosis. | NA | {
"id": 2064,
"name": "ERBB2",
"pos": [
25,
5
]
} | {
"id": "C0003507",
"name": "Aortic Valve Stenosis",
"pos": [
177,
15
]
} |
In contrast, OVA challenge in CC10-IL-11 animals elicited impressively lower levels of tissue and bronchoalveolar lavage inflammation, eosinophilia, and Th2 cell accumulation, and significantly lower levels of VCAM-1 and IL-4, IL-5, and IL-13 mRNA and protein. | NA | {
"id": 3567,
"name": "IL5",
"pos": [
227,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
121,
12
]
} |
APF-producing HUH7 tumors in vivo were established in the livers of severe combined immunodeficiency (SCID) mice, by the injection of HUH7 cells into the portal vein. | NA | {
"id": 284424,
"name": "MIR7-3HG",
"pos": [
134,
4
]
} | {
"id": "C0085110",
"name": "Severe Combined Immunodeficiency",
"pos": [
68,
32
]
} |
Our understanding of the molecular events driving gliomagenesis has led to the recognition of frequent alterations in the epidermal growth factor receptor (EGFR) pathway, leading to increased aggressiveness and a poorer prognosis. | NA | {
"id": 1956,
"name": "EGFR",
"pos": [
156,
4
]
} | {
"id": "C0001807",
"name": "Aggressive behavior",
"pos": [
192,
14
]
} |
Association analysis for corticotropin releasing hormone polymorphisms with the risk of major depressive disorder and the response to antidepressants. | genomic_alterations | {
"id": 1392,
"name": "CRH",
"pos": [
25,
31
]
} | {
"id": "C0041696",
"name": "Unipolar Depression",
"pos": [
88,
25
]
} |
Syk mediates bronchoconstriction in a NO-independent manner, presumably via rho kinase and p38 MAPK, and Syk inhibition might present a promising therapeutic approach in chronic asthma as well as acute asthma attacks. | biomarker | {
"id": 6850,
"name": "SYK",
"pos": [
105,
3
]
} | {
"id": "C0582415",
"name": "Acute asthma",
"pos": [
196,
20
]
} |
Intracoronary adenovirus-mediated S100A1 gene delivery in vivo to the postinfarcted failing rat heart normalized myocardial contractile function and Ca2+ handling, which provided support in a physiological context for results found in myocytes. | NA | {
"id": 760,
"name": "CA2",
"pos": [
149,
3
]
} | {
"id": "C0001486",
"name": "Adenovirus Infections",
"pos": [
14,
10
]
} |
The presence of wild-type and mutant EGFR along with tumor hypoxia are important factors that should be considered when treating NSCLC patients with gefitinib. | genomic_alterations | {
"id": 1956,
"name": "EGFR",
"pos": [
37,
4
]
} | {
"id": "C0027651",
"name": "Neoplasms",
"pos": [
53,
5
]
} |
Adenoviral gene transfer of PLD1-D4 enhances insulin sensitivity in mice by disrupting phospholipase D1 interaction with PED/PEA-15. | NA | {
"id": 5337,
"name": "PLD1",
"pos": [
87,
16
]
} | {
"id": "C0920563",
"name": "Insulin Sensitivity",
"pos": [
45,
19
]
} |
Most strikingly, in an animal model of prostate tumour formation induced by Pten loss, ablation of p110beta (also known as Pik3cb), but not that of p110alpha (also known as Pik3ca), impeded tumorigenesis with a concomitant diminution of Akt phosphorylation. | NA | {
"id": 5290,
"name": "PIK3CA",
"pos": [
173,
6
]
} | {
"id": "C0007621",
"name": "Neoplastic Cell Transformation",
"pos": [
190,
13
]
} |
The human protein N(α)-terminal acetyltransferase A complex (hNatA), composed of the catalytic hNaa10p (hArd1) and auxiliary hNaa15p (hNat1/NATH/Tubedown) subunits, was reported to be important for cell survival and growth of various types of cancer. | biomarker | {
"id": 8260,
"name": "NAA10",
"pos": [
104,
5
]
} | {
"id": "C1306459",
"name": "Primary malignant neoplasm",
"pos": [
243,
6
]
} |
In different types of acute leukemias, CYP2B6 516 T allele frequency was significantly higher in AML with AML1-ETO (19.2%, p < 0.05), AML-NOS (22.7%, p < 0.01), acute monoblastic and monocytic leukemia (25.9%, p < 0.01), and T-ALL (38.2%, p < 0.01). | NA | {
"id": 861,
"name": "RUNX1",
"pos": [
106,
4
]
} | {
"id": "C3831784",
"name": "Acute monocytic/monoblastic leukemia",
"pos": [
161,
40
]
} |
Recent research in CKD has shown that oxidative stress and inflammation can be compounded by impaired activation of the nuclear factor (erythroid-2-related factor)-2 (Nrf2)-Kelch-like ECH associating protein-1 (Keap1) pathway, a major cellular defense mechanism. | NA | {
"id": 2551,
"name": "GABPA",
"pos": [
167,
4
]
} | {
"id": "C0021368",
"name": "Inflammation",
"pos": [
59,
12
]
} |
Surprisingly, genetic deletion of B cells in CD28-ΔTreg mice prevented the development of lymphadenopathy and CD4<sup>+</sup> T cell activation, and autoimmunity that mainly targeted skin and lung tissues. | genomic_alterations | {
"id": 940,
"name": "CD28",
"pos": [
45,
4
]
} | {
"id": "C0497156",
"name": "Lymphadenopathy",
"pos": [
90,
15
]
} |
The increase in NEP mRNA was related to the increase in end diastolic pressure in AS and DCM. | NA | {
"id": 780,
"name": "DDR1",
"pos": [
16,
3
]
} | {
"id": "C0428883",
"name": "Diastolic blood pressure",
"pos": [
60,
18
]
} |
Cytogenetic analysis of a metastasis of a human testicular germ cell tumor (seminoma) revealed multiple numerical and structural anomalies, including an abnormally banding region (ABR) present on the short arm of one of the chromosome 12 homologs. | NA | {
"id": 29,
"name": "ABR",
"pos": [
180,
3
]
} | {
"id": "C1336708",
"name": "Testicular Germ Cell Tumor",
"pos": [
48,
26
]
} |