Input: Investigation of the candidate genes ACTHR and golf for bipolar illness by the transmission/disequilibrium test.

ACTHR

bipolar illness

ACTHR

bipolar illness


Input: Expression of p27 (KIP1) and C-MYC was determined by immunohistochemistry in 84 gastric adenocarcinoma samples and H. pylori infection and genotype were determined by polymerase chain reaction.

gastric adenocarcinoma


Input: The changes in expression and distribution of VEGF, AQP1 and AQP4 during encephaledema caused by hypoxic exposure may induce blood-brain barrier injury, and may be one of the pathogenesis of hypoxic encephaledema.

VEGF

hypoxic


Input: The A387P substitution is a " gain-of-function " mutation, favoring a form of TSP-4 that interferes with EC adhesion and proliferation and may thereby be proatherogenic.

TSP

adhesion


Input: Ipsilateral SFL duration during inflammation was positively correlated with ipsilateral TASK1 and TASK3 mRNAs, and contralateral TASK1, TRESK and TASK2 mRNAs.

SFL

inflammation


Input: Here, we show that RGS1 controls the chemotactic migration of RPMI 8226 human plasmacytoma cells and human plasmablasts.

plasmacytoma


Input: Moreover, hypoxia increased the expression of VEGF via up-regulation of HIF-1 alpha irrespective of p53 gene status.

VEGF

hypoxia


Input: Dysmorphic features, moderate mental impairment and minor brain malformations could result from the 21q monosomy and particularly the partial deletion of the APP-SOD1 region.

APP

brain malformations


Input: A transcription factor, TFAP2B, has been shown to participate in the regulation of adipocyte metabolism, by facilitating glucose uptake and lipid accumulation, while simultaneously reducing insulin sensitivity, and recently a direct function for TFAP2B as an inhibitor of adiponectin expression was observed.

insulin sensitivity


Input: Here, we assess the impact of germline heterozygosity of a novel, oxygen-independent ubiquitin ligase for HIF-1α: hypoxia-associated factor (HAF; encoded by SART1).

hypoxia


Input: Unusually, the BCL6 gene locus is also actively targeted by the somatic mutation (SM) mechanism, at a rate indicative of specific, regulated events in both normal and malignant B-cells.

BCL6 gene

somatic mutation


Input: Furthermore, in the SG, the number of circulating Lin (-)/CD45 (-)/CD34 (+) VSELs and the S1P plasma level are the best predictors of risk and are proposed as novel markers for the first " schizophrenic " episode of psychosis.

psychosis

psychosis


Input: We constructed a dual-regulated oncolytic adenovirus expressing interleukin 24 (IL-24) gene (Ki67-ZD55-IL-24) by utilizing the Ki67 promoter to replace the native viral promoter of E1A gene.

adenovirus


Input: High expression of TRF2, SOX10, and CD10 in circulating tumor microemboli detected in metastatic melanoma patients. A potential impact for the assessment of disease aggressiveness.

aggressiveness


Input: DNA glycosylase encoded by MUTYH functions as a molecular switch for programmed cell death under oxidative stress to suppress tumorigenesis.

MUTYH

tumorigenesis


Input: Mice lacking ERK1 exhibited enhanced fear extinction and reduced depression caused by overactivation of ERK2.

depression

depression


Input: They showed mild hypocalcemia (1. 68-1. 98 mmol/liter) with normal urinary calcium excretion and low normal serum PTH levels.

PTH

mild


Input: Human polynucleotide phosphorylase (hPNPase (old-35)), a RNA degradation enzyme shown to be upregulated during differentiation and cellular senescence, may represent a molecular link between aging and its associated inflammation.

inflammation


Input: Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).

TTP

TTP


Input: Recent studies showed that nutrient and oxygen starvation during tissue ischemia induce certain ER stress response genes, including GRP78; however, the role of ATF6 in mediating this induction has not been examined.

starvation


Input: A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.

trichothiodystrophy

trichothiodystrophy


Input: DNA was extracted from blood samples of 50 healthy subjects, 50 patients with OSF and 60 patients with oral cancer.

OSF

oral cancer


Input: Conversely, antagonism of miR-34a in diet-induced obese mice restored NAMPT/NAD (+) levels and alleviated steatosis, inflammation, and glucose intolerance.

glucose intolerance

glucose intolerance


Input: Immunohistochemistry and Western blot demonstrated that Eag1 and VDR abundance was higher in invasive-ductal carcinoma than in fibroadenoma, and immunoreactivity of both proteins was located in ductal epithelial cells.

fibroadenoma


Input: The role of ID1, ID2 and ID3 are expected to be oncogenic due to their overexpression in pancreatic cancer and colorectal adenocarcinomas, respectively.

pancreatic cancer


Input: Beta-catenin nuclear expression was seen in 75% cases of gallbladder cancer and in no case of chronic cholecystitis and control gallbladder.

Beta-catenin

chronic cholecystitis


Input: Linkage of bipolar disorder and recurrent depression to DRD1 and DRD2 was tested using a series of genetic models with varying penetrance levels.

recurrent depression

recurrent depression


Input: In addition, a significant interaction between the IL-17F 7488 polymorphism and H. pylori infection was shown to increase the activity and inflammation scores (p = 0. 043 and 0. 042, respectively).

inflammation


Input: Thus, stimulation of serotonin transporter activity in the placental choriocarcinoma cells following cholera toxin treatment is likely a result of an increase in cell surface density of the serotonin transporter protein as a consequence of increased steady state serotonin transporter mRNA levels.

serotonin transporter

placental choriocarcinoma


Input: To assess the utility of fluorescence in situ hybridization (FISH) for analysis of MYCN gene amplification in neuroblastoma, we compared this assay with Southern blot analysis using tumor specimens collected from 232 patients with presenting characteristics typical of this disease.

FISH

neuroblastoma


Input: Furthermore, RIZ1 overexpression in malignant meningioma cells was associated with the downregulation of c-myc expression.

c-myc

malignant meningioma


Input: This increase was accompanied by the activation of caspases, cytochrome c release, Bcl2-associated X protein (Bax) translocation, myeloid cell leukemia-1 (Mcl-1) downregulation, Bcl-2-associated death promoter (Bad) dephosphorylation, Akt inactivation, and RhoA/Rho-associated coiled-coil containing protein kinase 1/phosphatase and tensin homolog (RhoA/ROCK1/PTEN) activation.

translocation


Input: We found that ligand-activated FXR was able to alleviate H₂O₂or tetradecanoylphorbol acetate-induced JNK phosphorylation in human hepatoblastoma (HepG2) cells or mouse primary hepatocytes.

JNK

hepatoblastoma


Input: When we compared these cases with cases of mycosis fungoides unassociated with HIV infection, we found less concordance among dermatopathologists in making a histopathological diagnosis, a greater proportion of CD8 than CD4 T cells in the cutaneous infiltrates, and no instances of demonstrated clonality of the cutaneous T-cell infiltrates in the HIV + group.

mycosis fungoides


Input: Our data support that the NOS3 T-786C SNP is associated with preeclampsia and the severity of its complications.

preeclampsia


Input: These data clearly support a major role for the ubiquitin-proteasome dependent proteolytic process during sepsis but also suggest that the activation of lysosomal and Ca2 +-dependent proteolysis may be important in the chronic phase.

sepsis


Input: The VEGF siRNA with atelocollagen dramatically suppressed tumor angiogenesis and tumor growth in a PC-3 s. c. xenograft model.

tumor angiogenesis


Input: By using interphase fluorescent in situ hybridization methodology, we analyzed PLCB1 gene, which codifies for the PI-PLC & #946; 1 enzyme, in paraffin embedded samples of orbito-frontal cortex of 15 patients affected with major depression and in 15 normal controls.

major depression

major depression


Input: Our findings suggested that the ACE I/D polymorphism might be associated with the NS personality trait in females, but not males.

ACE

personality trait


Input: The low beta-glucuronidase activity in another mild MPS VII patient was due to reduced biosynthesis of stable mRNA from one allele, and a W446X mutation on the second.

beta-glucuronidase

MPS VII

beta-glucuronidase

MPS VII


Input: Notably, the expression of malate dehydrogenase 1 was downregulated while the annexin A5 was overexpressed in an age-dependent manner, indicating that these proteins may be involved in the WD process.

annexin A5

WD

annexin A5

WD


Input: In contrast, inhibition of Drp1 hyperactivation by Drp1 siRNA reduced necrotic cell death in cell cultures exposed to oxidative stress.

necrotic cell death


Input: Expression of HGAL in primary cutaneous large B-cell lymphomas: evidence for germinal center derivation of primary cutaneous follicular lymphoma.

HGAL

cutaneous follicular lymphoma


Input: Instead, a second progesterone dose delays the fall of p21 and enhances the rise of p27 (Kip1), thereby intensifying the progesterone resistance in an autoinhibitory loop.

fall


Input: Despite the upregulation of the SDF1α/CXCR4 axis upon the induction of hypoxia after antiangiogenic therapy, CXCR4 inhibition by AMD-NPs in combination with either conventional sorafenib treatment or VEGF siRNA prevents the infiltration of tumor-associated macrophages.

VEGF

hypoxia


Input: VEGF promoter deletion studies identified a novel promoter region between-418 and-223 bp that was responsive to hypoxia in a PI3K/Rho/ROCK-dependent manner.

VEGF

hypoxia


Input: Increased HIF-1 in REDD1 (-/-) cells induces a shift to glycolytic metabolism and provides a growth advantage under hypoxic conditions, and HIF-1 knockdown abrogates this advantage and suppresses tumorigenesis.

tumorigenesis


Input: Only SOD2 was found upregulated in placental villous (fetal side) tissue of GDM women.

GDM

GDM


Input: These include the TRP vanilloid subtypes 1 (TRPV1), 2, 3, and 4, the cold and menthol receptor TRPM8, and TRPA1.

cold


Input: Painless control tissue was taken at autopsy from patients without back pain/spinal pathology or spinal levels with negative discograms resected for deformity. Quantitative real time polymerase chain reaction (qRT-PCR) was performed to evaluate RANTES, IL-1β, IL-6, and IL-8 expression in painful and control discs.

RANTES

deformity


Input: Determination of number of triple CGG repeats on both alleles of FMR1 gene and of FSH and anti-Müllerian hormone (AMH) levels as a reflection of ovarian reserve.

AMH

ovarian reserve


Input: Hypomorphic mutations in the gene encoding the tissue-nonspecific alkaline phosphatase (TNAP) enzyme, ALPL in human or Akp2 in mice, cause hypophosphatasia (HPP), an inherited metabolic bone disease also characterized by spontaneous seizures.

TNAP

seizures

TNAP

seizures


Input: We have investigated the diagnostic value of fluorescence in situ hybridisation (FISH) to detect t (11; 14) and trisomy 12 in 53 cases with a B cell leukaemia difficult to classify on clinical and laboratory grounds.

FISH

leukaemia


Input: Immunohistochemical and genetic analysis revealed p53 overexpression in the tumor giant cells and loss of heterozygosity of p53 gene only in the recurrent tumor; thus, a diagnosis of secondary malignant giant-cell tumor was finally made.

p53 gene

giant


Input: Small molecular nucleotides targeting VASN are promising biological therapies to HCC.

VASN

HCC

VASN

HCC


Input: The Plasmodium berghei mouse model for experimental cerebral malaria (ECM) reproduces several disease symptoms seen in human CM, and two different phenotypes, a susceptible (FVB/NJ) and a resistant mouse strain (DBA/2J), were examined.

ECM

cerebral malaria


Input: Genetic analysis of the GFAP gene is recommended for all patients with late-onset progressive ataxia and suspected of having adult-onset Alexander disease on the basis of MRI findings.

GFAP

Alexander disease

GFAP

Alexander disease


Input: Our data further suggest that the age of onset of DSMA1 is variable, and we discuss the effect of residual IGHMBP2 protein levels on the clinical course and the severity of the disease.


Input: Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.

CAST

cheilitis


Input: Malarial pigment haemozoin, IFN-gamma, TNF-alpha, IL-1beta and LPS do not stimulate expression of inducible nitric oxide synthase and production of nitric oxide in immuno-purified human monocytes.

IFN

pigment


Input: Mapatumumab, an antibody targeting TRAIL-R1, in combination with paclitaxel and carboplatin in patients with advanced solid malignancies: results of a phase I and pharmacokinetic study.

malignancies

malignancies


Input: LECT2-knockout (KO) mice and NOD/SCID/IL2rgnull (NSG) mice were respectively used to investigate the effects of LECT2 on the tumorigenicity and metastasis of murine (Lewis lung carcinoma, LLC) and human (HCC827) lung cancer cells.

metastasis

metastasis


Input: Association of single-nucleotide polymorphisms from HSD17B6 in subjects with PCOS with key phenotypes of PCOS: androgen status, insulin resistance, and body mass index.

insulin resistance


Input: Identification of JAK2 as a mediator of FIP1L1-PDGFRA-induced eosinophil growth and function in CEL.

PDGFRA

CEL

PDGFRA

CEL


Input: In this study, we examined the expression of adiponectin receptors (AdipoR1 and AdipoR2) and assessed the function of adiponectin in gastric cancer.

gastric cancer


Input: We aimed to elucidate the mechanism by which a missense mutation in the tyrosine kinase domain of FGFR2, described in the sporadic case of LADD syndrome, leads to reduced tyrosine kinase activity.

LADD syndrome

LADD syndrome


Input: Associations of hereditary abnormalities of the factor VIII complex and hereditary platelet disorders have previously been reported in 12 families.

factor VIII

platelet disorders


Input: Deguelin inhibits epithelial-to-mesenchymal transition and metastasis of human non-small cell lung cancer cells by regulating NIMA-related kinase 2.

NIMA-related kinase 2

non-small cell lung cancer

NIMA-related kinase 2

non-small cell lung cancer


Input: Our results suggest a possible association between the PNPLA3 148M allele and insulin resistance as well as baseline viral load in HCV genotype 2, but not in genotype 3.

insulin resistance


Input: Epistatic effects of ACE I/D and AGT gene variants on left ventricular mass in hypertensive patients: the HyperGEN study.

ACE

left ventricular mass


Input: PCR and direct sequencing of the ADAR1 gene were performed to identify and confirm the mutations in the eight families and the sporadic patient.

sporadic


Input: Cross-sectional studies disclosed a marked increase of miR-140-5p, miR-142-3p, and miR-222 and decreased miR-423-5p, miR-125b, miR-192, miR-195, miR-130b, miR-532-5p, and miR-126 in T2D patients.


Input: The pathogenesis of AIMBAD appears to be heterogeneous, as recent reports have demonstrated GIP-mediated hypercortisolism and familial AIMBAD.

GIP

hypercortisolism


Input: Disruption of both FANCC and Ku70 suppresses sensitivity to cross-linking agents, diminishes chromosome breaks, and reverses defective homologous recombination.

FANCC

chromosome breaks


Input: The mRNA gene expression of LUM is correlated with the LF stage (r (2) = 0. 45, P = 0. 009), and the mRNA level of ITLN1 is correlated with the ankle-brachial index (r (2) = 0. 42, P = 0. 008).

LUM

ankle-brachial index


Input: siRNA depletion of BRCA1, but not BRCA2, causes increased genome instability in Fanconi anemia cells.

genome instability


Input: Our study provides miRNomes of human liver and HCC and contributes to better understanding of the important deregulated miRNAs in HCC and liver diseases.

HCC

liver diseases


Input: OBJECTIVE: Small GTPase Ras-related protein 1 (Rap1b) controls several basic cellular phenomena, and its deletion in mice leads to several cardiovascular defects, including impaired adhesion of blood cells and defective angiogenesis.

adhesion


Input: This study investigated the effect of surgically induced ischaemia in a xenograft model of a colorectal cancer on the expression of a range of prognostic, predictive, and hypoxic markers, with a particular emphasis on thymidylate synthase.

thymidylate synthase

ischaemia


Input: Our findings indicate that PPase is involved in gastric tumor progression and that PPase may be a useful marker for poor prognosis of human gastric cancers.

PPase

gastric tumor


Input: Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder that is characterized by branchial cysts or fistulae, external ear malformations and/or preauricular pits, hearing loss and renal anomalies.

BOR

branchial cysts


Input: We evaluated immunohistochemically the expression of two hypoxia-associated proteins, carbonic anhydrase IX (CAIX) and hypoxia-induced factor 1α (HIF1α), and ki-67, intercellular matrix adhesion molecule E-cadherin and the stroma remodelling marker tenascin C in a series of 100 sporadic MTCs and corresponding lymph node metastases, if present.

tenascin C

hypoxia


Input: Brd4-depleted mice display reversible epidermal hyperplasia, alopecia, and decreased cellular diversity and stem cell depletion in the small intestine.

hyperplasia

hyperplasia


Input: Filamin A mutations have been reported in families and sporadic patients.

Filamin A

sporadic


Input: Most CD8 + cells in skin lesions of CD3 + CD4 + mycosis fungoides are CD3 + T cells that lack CD11b, CD16, CD56, CD57, and human Hanukah factor mRNA.

mycosis fungoides


Input: In breast cancer ERalpha plays a central role, where estrogen-regulated gene expression leads to tumor initiation, growth and survival.

estrogen-regulated gene

breast cancer


Input: A similar co-upregulation of GLUT and VEGF was seen in hypoxic tumors of both lines.

VEGF

hypoxic


Input: OPA1 gene mutations are causative in Chinese autosomal-dominant optic atrophy and sporadic optic atrophy.

autosomal-dominant optic atrophy

autosomal-dominant optic atrophy


Input: Four IFN-treated patients presented clinical thyroid disorders, including autoimmune hypothyroidism (n = 2), transient thyrotoxicosis (n = 1) and subacute thyroiditis (n = 1).

IFN

thyrotoxicosis


Input: In conclusion, TTV DNA is detected frequently in bile from patients with obstructive jaundice, suggesting a fecal-oral route of infection and high prevalence of asymptomatic TTV carriers.

TTV

asymptomatic


Input: These findings demonstrate that lipocalin 2 has at least two functions related to tumorigenesis, one involving apoptosis induction of normal hematopoietic cells and the other being tissue invasion by leukemia cells.

lipocalin 2

tumorigenesis


Input: The DOR-1 cell line exhibits distinct immuno-cytochemical features and carries the t (9; 17) (p23; p13) translocation suggesting involvement of stromal-like cell lineage in LCH initiation and progression.

DOR

translocation


Input: NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.

therapy-related myeloid neoplasm


Input: Oxidative stress caused by a SOD1 deficiency ameliorates thioacetamide-triggered cell death via CYP2E1 inhibition but stimulates liver steatosis.

liver steatosis

liver steatosis


Input: Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.

FTO

ciliopathies


Input: These results suggest that hepatic steatosis causes the enhancement of hepatic GLUT2 mRNA expression, which may be associated with gluconeogenesis and insulin resistance.

hepatic steatosis

hepatic steatosis


Input: Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

opsismodysplasia

opsismodysplasia


Input: Whereas the loss of function mutation of ZMPSTE24 normally results in lethal RD, the truncation of LMNA seems to be a salvage alteration alleviating the clinical picture to the HGPS phenotype.

HGPS

HGPS


Input: CD19 deficiency in B cells also attenuates skin fibrosis in the tight-skin (TSK/+) mouse, a genetic model for SSc.

TSK

fibrosis


Input: In this work, we have investigated if the SNPs APE1 Asn148Glu, OGG1 Ser326Cys, and PARP-1 Val762Ala are associated to meningitis.

meningitis


Input: To determine the oncogenic potential of the t (14; 18) translocation, we produced transgenic mice bearing a Bcl-2-immunoglobulin minigene that structurally mimicked the t (14; 18).

translocation


Input: Previously, we mapped the 12-O-tetradecanoylphorbol-13-acetate (TPA) skin tumor promotion susceptibility locus, Psl1, to distal chromosome 9 in crosses of sensitive DBA/2 mice with relatively resistant C57BL/6 mice.

tumor promotion


Input: A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype.

Mal de Meleda

Mal de Meleda


Input: Significantly increased infiltration of pmTOR + inflammatory cells and decreased infiltration of Foxp3 + CD4 + Tregs into nasal polyps was observed, with an inverse association.

nasal polyps


Input: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

Jaeken syndrome

Jaeken syndrome


Input: Since CD38 ⁺ memory CD4 ⁺ T cells, especially those from HIV-infected persons, fail to induce CD154 (CD40L) while responding to a superantigen with interferon (IFN)-γ or interleukin (IL)-2, we aimed to determine if recall responses to cytomegalovirus (CMV) were similarly affected in the CD38 ⁺ memory CD4 ⁺ T-cell subpopulation.

cytomegalovirus


Input: We demonstrated that maternal hyperglycemia correlated with activation of the apoptosis signal-regulating kinase 1 (ASK1) in the developing neural tube, and Ask1 gene deletion was associated with reduced neuroepithelial cell apoptosis and development of neural tube defects.

maternal hyperglycemia


Input: These findings may indicate that the accumulated lumican protein in cancer cells at the periphery of cancer nests may play roles in the growth or invasion of human cervical cancer cells.

lumican

cervical cancer


Input: We have identified miR-216a as a microRNA that is induced during endothelial aging and, according to the computational analysis, among its targets includes two autophagy-related genes, Beclin1 (BECN1) and ATG5.

aging


Input: The protein and mRNA levels of VEGF-A and EphA2 in the residual tumor tissues group that received HIFU were significantly decreased until 1 week compared with the control group (P < 0. 01).

VEGF-A

residual tumor


Input: Exploratory classification and regression tree (CART) analysis highlighted high-order gene-gene and gene-environment interactions and a genetic signature associated with differential response, with hOGG1-1245C > G as the most predictive factor.

regression


Input: Thus, SOM regulates both parasite burden and granulomatous inflammation perhaps through modulating granuloma production of IFN-γ and IL-1β.

IFN

granuloma


Input: We concluded that sevoflurane attenuates hypoxia-induced VEGF level via DNA methylation of the promoter region in TSCC cell.

VEGF

hypoxia


Input: The AML1 gene, which is located at the translocation breakpoint of the t (8; 21) (q22; q22) translocation found in acute myelocytic leukemia, was also rearranged by the t (3; 21) (q26; q22) translocation.

translocation


Input: The Rae1-Nup98 complex prevents aneuploidy by inhibiting securin degradation.

aneuploidy


Input: The prolyl hydrolase 1 (PHD1) is a key adjustment factor that mediates the HIF-1 degradation and relates with the process of tumorigenesis.

tumorigenesis


Input: We have investigated the basis of androgen resistance in seven unrelated individuals with complete testicular feminization or Reifenstein syndrome caused by single amino acid substitutions in the hormone-binding domain of the androgen receptor.

androgen receptor

Reifenstein syndrome

androgen receptor

Reifenstein syndrome


Input: Here, we demonstrate that B7-H3 KO mice have significantly less inflammation, decreased pathogenesis, and limited disease progression in both EAE and CIA mouse models when compared with littermates; these results were accompanied by a decrease in IFN-γ and IL-17 production.

inflammation


Input: In conclusion, our study suggests that TACR1 gene variants have no major influence on suicidal behavior but may modulate aggression features.

TACR1 gene

aggression


Input: Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.

early-onset sarcoidosis

early-onset sarcoidosis


Input: These results suggest that the applicability of medical marijuana would be broadened by concurrent inhibition of COX-2.

marijuana

marijuana


Input: In contrast, mice treated with neutralizing CCR3 antibodies developed significantly reduced pulmonary fibrosis, eosinophilia, neutrophilia, and expression of profibrotic cytokines.

pulmonary fibrosis

pulmonary fibrosis


Input: To elucidate ZNF331 expression patterns we performed Northern blot analyses on various normal tissues as well as on thyroid carcinoma and adenoma cell lines.

adenoma


Input: Upregulation of miR-328 and inhibition of CREB-DNA-binding activity are critical for resveratrol-mediated suppression of matrix metalloproteinase-2 and subsequent metastatic ability in human osteosarcomas.

osteosarcomas

osteosarcomas


Input: Together, our results suggested that therapeutic effects of RA-induced leukemia differentiation depend on AhR and its ability to downregulate the stem cell factor Oct4.

stem cell factor

leukemia


Input: Taking into account that downregulation of p27/Kip1 plays a significant role in corticotrope tumorigenesis and that EGFr mitogenic signaling results in decreased p27/Kip1, we searched for a correlation between EGFr expression and p27/Kip1 levels in corticotropinomas.

tumorigenesis


Input: We did not observe association between FTO variant and the magnitude of weight reduction achieved by long-term lifestyle intervention.

FTO

weight reduction


Input: We conducted a systematic review to analyze the frequency of microsatellite instability (MSI), immunohistochemical (IHC) staining for MMR proteins, and hypermethylation of the MLH1 promoter region in ovarian cancers.

MMR

microsatellite instability


Input: Univariate survival analysis and Cox proportional hazards regression model was used to determine if EGFR-TKIs readministration is tolerable as well as efficacious for a certain group of patients.

EGFR

regression


Input: RER positive nonfamilial carcinomas tended to be located more frequently in the right colon.

RER

carcinomas


Input: This study identifies IGH as a new translocation partner of MALT1 in MALT lymphomas, which tend to arise frequently at sites other than the gastrointestinal tract and lung.

translocation


Input: We also demonstrated that Smad1 and ALK1 were highly expressed in human diabetic nephropathy.

diabetic nephropathy


Input: Over the last few years, a large body of literature has also implicated CD24 expression in tumorigenesis and progression.

tumorigenesis


Input: The absence of GPI-APs may well explain the main clinical findings of PNH, i. e., hemolysis and thrombosis in the venous system.

GPI

hemolysis


Input: In light of transgenic mouse experiments showing a key role for c-fos in bone resorption, we propose that elevated c-fos gene expression in pagetic osteoclasts is an important component in producing the pagetic phenotype.

fos gene

bone resorption


Input: We compared the proteomes of two oral cancer cells, CAL-27 and SAS, with the highest and the lowest migration potential, respectively, amongst six different oral cancer cell lines.

SAS

oral cancer


Input: HNPCC is caused by a germline mutation in one of several identified mismatch repair (MMR) genes and typically presents with microsatellite instability (MSI) and frequent loss of MMR protein expression in the tumor tissue.

MMR

microsatellite instability


Input: Our data reveal that both multiplex qPCR and FISH assays are equally applicable for detection of RET/PTC rearrangements.

RET

PTC

RET

PTC


Input: We conducted a study of 702 patients (184 healthy individuals, 171 non-infected critically ill patients, and 347 sepsis patients) to investigate if genetic polymorphisms in the CD32A coding region affect the risk of septic shock.

septic shock


Input: The polymerase chain reaction was used to amplify the glycosylasparaginase protein coding sequence from the three AGU patients in order to compare them to the normal sequence from a full-length human placenta cDNA clone HPAsn. 6 (Fisher, K. J., Tollersrud, O. K., and Aronson, N. N., Jr. (1990) FEBS Lett. 269, 440-444).

glycosylasparaginase

AGU

glycosylasparaginase

AGU


Input: Does endogenous fatty acid metabolism allow cancer cells to sense hypoxia and mediate hypoxic vasodilatation? Characterization of a novel molecular connection between fatty acid synthase (FAS) and hypoxia-inducible factor-1alpha (HIF-1alpha)-related expression of vascular endothelial growth factor (VEGF) in cancer cells overexpressing her-2/neu oncogene.

VEGF

hypoxic


Input: We have identified a novel mutation in the KRT12 gene that is associated with a symptomatic phenotype of Meesmann' s corneal dystrophy.

Meesmann' s corneal dystrophy

Meesmann' s corneal dystrophy


Input: The frequency of IL-10 + IFN-gamma-IL-4-CD4 + cells in the severe group was not significantly different from that in the mild group of those with non-atopic asthma.

mild


Input: Our data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome.

androgen receptor gene

sporadic


Input: We describe a patient with PNDM who had no neurological finding although she was determined to have a novel mutation (p. Q52L) in the same residue of the KCNJ11 as in the previously reported cases with DEND syndrome.

PNDM

PNDM


Input: Pulmonary endothelial nitric oxide synthase gene expression is decreased in a rat model of congenital diaphragmatic hernia.

endothelial nitric oxide synthase

diaphragmatic hernia

endothelial nitric oxide synthase

diaphragmatic hernia


Input: Of the more than 200 genes upregulated by these treatments, three of these, neuronatin, metallothionein 3 and cystatin E/M, were frequently hypermethylated and transcriptionally downregulated in NSCLC cell lines and tumors.

cystatin E/M

NSCLC

cystatin E/M

NSCLC


Input: Whereas increases in cardiomyocyte apoptosis were not apparent, we detected robust increases in Bnip3 (Bcl2/adenovirus E1B 19-kDa interacting protein 3), an established downstream target of FoxO3.

adenovirus


Input: In summary, our findings provide some support for the individual involvement of DAO and G72 (DAOA)/G30 in the etiology of bipolar disorder.

DAO

bipolar disorder

DAO

bipolar disorder


Input: To test the effects of decreased α1Na, K-ATPase expression on blood pressure, we measured blood pressure by radiotelemetry in three month-old, highly inbred heterozygous knockout ATP1A1 +/-male mice with resultant 58% reduction in ATP1A1 protein levels.

blood pressure


Input: The proband, born to consanguineous parents, presented with proportional growth failure (height 108. 8 cm,-3. 48 SDS), combined pituitary hormone deficiency (GH, TSH, PRL and gonadotropins) and a suprasellar mass with optic chiasm invasion, compatible with a diagnosis of chiasmatic hypothalamic glioma, as revealed by MRI.

MRI

height


Input: IgVH gene segments usage and mutation status were investigated by multiplex RT-PCR, and the relationship between IgVH somatic mutation status and the expression of CD38 and ZAP-70 was analyzed in 65 CLL patients.

somatic mutation


Input: The almost universal finding of osteopenia in Gaucher disease and the unpredictable advent of avascular necrosis and/or pathological fractures are clinically relevant issues that are not necessarily reversed by specific enzyme replacement therapy (ERT).

ERT

osteopenia


Input: Sanfilippo type B syndrome (mucopolysaccharidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder that is caused by defective alpha-N-acetylglucosaminidase (NAGLU).

MPS IIIB

mucopolysaccharidosis type IIIB

MPS IIIB

mucopolysaccharidosis type IIIB


Input: These findings suggest that progression of retinal degeneration in Rdh8 (-/-) Abca4 (-/-) mice is affected by differential vulnerability of rods and cones to light.

retinal degeneration


Input: We screened for ARG1 mutations and measured erythrocyte enzyme activity in a series of 16 Brazilian HA patients.

HA

HA


Input: Among them, the CCNH-C5orf30 and TRMT11-GRIK2 gene fusions were found in breast cancer, colon cancer, non-small cell lung cancer, esophageal adenocarcinoma, glioblastoma multiforme, ovarian cancer and liver cancer, with frequencies ranging from 12. 9% to 85%.

non-small cell lung cancer

non-small cell lung cancer


Input: In preliminary screens, mutations of PTEN were detected in 31% (13/42) of glioblastoma cell lines and xenografts, 100% (4/4) of prostate cancer cell lines, 6% (4/65) of breast cancer cell lines and xenografts, and 17% (3/18) of primary glioblastomas.

PTEN

prostate cancer

PTEN

prostate cancer


Input: Finally, we show that VEGF protects MM patient cells against FBS starvation-induced apoptosis.

VEGF

starvation


Input: This translocation results in the fusion of the bcl-2 oncogene on chromosome 18 with immunoglobulin heavy chain genes on chromosome 14, and in the expression of higher amounts of normal bcl-2 protein.

translocation


Input: Our findings suggest a low prevalence of FLG mutations in mild AD and support an important role for filaggrin in determining the physicochemical parameters of the SC.

filaggrin

mild


Input: CXCL9 or CXCL10 induced in vitro glioma cell growth in GL261-and U87-GS as well as inhibited cell loss in U138-GS cells and this effect was antagonized by NBI-74330.

glioma


Input: However, the tumors formed by the cells expressing exogenous VEGF (121) or VEGF (165) retained the phenotype of AA, lacking areas of necrosis that are the hallmark of the GBM phenotype.

VEGF

necrosis


Input: Gadd45 and to a lesser extent Gadd153 (stress genes induced by, e. g., ionizing radiation and ischaemia) were up-regulated, as well as p21waf1, cip1, a protein participating in cell cycle regulation that can interact with Gadd45.

ischaemia


Input: Studies on adhesion and signalling activities using pharmacological inhibitors or by transient-transfection approaches showed that inhibition of ERK1/ERK2 activity increased TGF-beta1-mediated cell adhesion slightly, but not the basal cell adhesion significantly, and that c-Src family kinase activity and decrease in Ras/ERKs cascade activity were required for the TGF-beta1 effects.

adhesion


Input: The risk analysis showed that under a dominant model, the LIPC C-514T polymorphism was associated with increased risk of type 2 diabetes (OR = 1. 42, P = 0. 029), hypertriglyceridemia (OR = 1. 36, P = 0. 006), and coronary artery calcification (CAC) ≥ 1 (OR = 1. 44, P = 0. 015) and decreased risk of hypoalphalipoproteinemia (OR = 0. 78, P = 0. 036).

LIPC

coronary artery calcification


Input: Our goal was to investigate whether a polymorphism in the insulin-like growth factor I promoter gene (IGF-I, wild-type, 192 base pairs) and in the insulin gene (INS) variable number of tandem repeat locus influence birth weight and weight gain in infancy.

IGF-I

birth weight


Input: Newly described small molecules that inhibit BET proteins BRD2, BRD3, and BRD4 reduce proliferation of NUT (nuclear protein in testis)-midline carcinoma, multiple myeloma, and leukemia cells in vitro and in vivo.

multiple myeloma


Input: To develop a novel therapeutic approach for treating renal fibrosis, we examined the simultaneous inhibition of the transcription factors NF-κB and Sp1 in a mouse model of unilateral ureteral obstruction (UUO).

ureteral obstruction


Input: In a mouse limb ischemia model, an injection of naïve APCs, but not SOD3-silenced APCs, helps perfusion recovery and neovascularization, thus underlining the importance of this soluble isoform in protection from ischemia.

neovascularization


Input: Molecular genetics and developmental studies have identified 21 genes in this region (ADRA1A, ARHGEF10, CHRNA2, CHRNA6, CHRNB3, DKK4, DPYSL2, EGR3, FGF17, FGF20, FGFR1, FZD3, LDL, NAT2, NEF3, NRG1, PCM1, PLAT, PPP3CC, SFRP1 and VMAT1/SLC18A1) that are most likely to contribute to neuropsychiatric disorders (schizophrenia, autism, bipolar disorder and depression), neurodegenerative disorders (Parkinson' s and Alzheimer' s disease) and cancer.

depression

depression


Input: To examine the association of glutathione-S-transferase (GST) gene polymorphisms in patients with sporadic prostate cancer, in a North Indian population, as GSTs are active in detoxifying a wide variety of endogenous or exogenous carcinogens, and genetic polymorphisms of GSTM1, GSTT1 and GSTP1 have been assessed to evaluate the relative risk of various cancers.

sporadic


Input: Heterozygous Phox2b (27Ala/+) pups exhibited a lack of responsiveness to hypercapnia and unstable breathing; they died within the first few postnatal hours.

breathing


Input: We identified 25 new SNP-CAD associations (P & lt; 5 & #215; 10 & lt; sup & gt;-8 & lt;/sup & gt;, in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p. Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315).

PROCR

CAD

PROCR

CAD


Input: In conclusion, a hypoxic environment may modulate JAK2-positive MPN cell fate and disease progression through the suppression of SHP-2 function and the subsequent suppression of JAK2V617F activity.

hypoxic


Input: Here we show in a mouse model of chronic hypoxia (CH)-induced PH that the nuclear protein and damage-associate molecular pattern molecule (DAMP) high mobility group box 1 (HMGB1) contributes to PH via a Toll-like receptor 4 (TLR4)-dependent mechanism.

hypoxia


Input: Compared with non-inflammatory bowel disease, inflamed CD LPMCs contained more TGR5 transcripts.

CD

CD


Input: Given the important role of cell mediated immunity in viral clearance and control of premalignant lesions, we hypothesize that variation in the IL-12/IL-10 cytokine and cytokine receptor genes may influence cervical and vulvar cancer risk.

vulvar cancer


Input: Obtained data revealed remarkable increase in the expression levels of GHR and NEDD9 proteins in both epithelial and stromal components of axillary lymph node metastases in comparison with those of non-metastatic tumours, suggesting that the expression of these two proteins may provide biomarkers for tumour aggressiveness.

aggressiveness


Input: The single measurement of serum S100B at 6 h after ICH induction was significantly correlated with brain edema formation and the maximal extent of the hematoma volumes.

brain edema

brain edema


Input: We investigated the role of PARP in regulating ET-1 expression and ET-1-induced abnormalities in the targets organs of diabetic complications.

PARP

diabetic complications


Input: A 15-yr-old adolescent, born small for gestational age, showed persistent postnatal growth retardation, microcephaly, and elevated IGF-I levels.

IGF-I

postnatal growth retardation


Input: The EGFR is a 170-kDa cell-surface protein involved in many biological processes, such as proliferation, migration, DNA synthesis and adhesion.

EGFR

adhesion


Input: These data indicate that the absence of functional dysferlin in the asymptomatic fukutin (Hp/-) mice triggers disease manifestation and aggravates the dystrophic phenotype.

dysferlin

asymptomatic


Input: IL-18 was detected within glial cells and neurons in the brain of subjects affected by tuberous sclerosis and encephalitis whereas in healthy subjects, only a weak IL-18 positivity was detected at the level of glial cells.

tuberous sclerosis


Input: However, as hypericin-mediated PDT primarily targets tumor vasculature, it induces certain pro-angiogenic factors such as vascular endothelial growth factor (VEGF) in the tumor tissue as a result of hypoxia.

VEGF

hypoxia


Input: MT1G and CRABP1 are novel genes that are likely involved in the pathogenesis of sporadic PTC.

sporadic


Input: Methylation status of cyclin-dependent kinase inhibitor genes within the transforming growth factor beta pathway in human T-cell lymphoblastic lymphoma/leukemia.

cyclin-dependent kinase inhibitor

lymphoblastic lymphoma


Input: In addition to reducing blood pressure, the renoprotective of iptakalim may be involved in inhibiting the circulation and intrarenal concentrations of endothelin 1 and TGF-beta1, regulating the expression of K (ATP) genes and correcting MMP-9/TIMP-1 imbalance in renal tissue, which may result in reducing the accumulation of extracellular matrix molecules.

endothelin 1

blood pressure


Input: Therefore, current study provides novel clues for the crucial role of Wnt5a in the smoking-related lung carcinogenesis.

smoking


Input: We conclude that the majority of NF2 patients carry an inactivating mutation of the NF2 gene and that neutral polymorphism in the gene is rare.


Input: Multiple factors affected anemia status, including the following: age groups 6-11. 99 mo (OR: 6. 1; 95% CI: 4. 3, 8. 7) and 12-23. 99 mo (OR: 2. 7; 95% CI: 2. 1, 3. 6); Hb type, notably Hb EE (OR: 18. 5; 95% CI: 8. 5, 40. 4); low ferritin (OR: 3. 2; 95% CI: 2. 2, 4. 7); elevated AGP (OR: 1. 4; 95% CI: 1. 2, 1. 7); rural setting (OR: 2. 3; 95% CI: 1. 7, 3. 1); low RBP (OR: 3. 6; 95% CI: 2. 2, 5. 9); and elevated sTfR (OR: 2. 1; 95% CI: 1. 7, 2. 7).

RBP

anemia


Input: Two hundred twenty-six patients with the pathologic diagnosis of sporadic prostate tumor and 156 healthy matched (age, ethnic group) male controls from a large epidemiologic cohort were genotyped for previously described polymorphisms in the androgen receptor (AR), 5alpha-reductase type II (SRD5A2), p450c17 (CYP17), and aromatase (CYP19) genes.

androgen receptor

sporadic


Input: We hypothesized that altered AHRR methylation in monocytes, a cell type sensitive to cigarette smoking and involved in atherogenesis, may be a part of the biological link between cigarette smoking and atherosclerosis.

AHRR

atherogenesis


Input: These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.

SLE

SLE


Input: Quantitative real-time polymerase chain reaction confirmed increased mRNA expression of several genes in the bladder samples of patients with ulcerative interstitial cystitis, including CXCR3 binding chemokines (CXCL9, 10 and 11) and TNFSF14 (LIGHT).

ulcerative


Input: Rats treated with AG (25 and 50 mg/kg), GED (2. 5 mg/kg), and 1400W (0. 1 mg/kg) showed decreased total ulcer length and MPO activity by 51, 72, 53, and 61% and by 58, 88, 68, and 70%, respectively, compared to INDO alone.

MPO

ulcer


Input: Pathway analysis showed that the p53 and Notch signaling pathways may play an important role in tumorigenesis and progression of PHPAs, and extracellular matrix (ECM)-receptor interactions likely play a role in the inhibition of invasion and metastasis in these tumors.

ECM

tumorigenesis


Input: Using a weighted regression analysis implemented in the program SCORE-Seq, we found a rare variant constellation across the entire NKAIN1-SERINC2 region that was associated with alcohol dependence in European-Americans (Fp: overall, P = 1. 8 & #215; 10 (-4); VT: overall, P = 1. 4 & #215; 10 (-4); Collapsing, P = 6. 5 & #215; 10 (-5)) and European-Australians (Fp: overall, P = 0. 028; Collapsing, P = 0. 025), but not in African-Americans, and not associated with any other disorder examined.

alcohol dependence

alcohol dependence


Input: Recent evidence suggests that gamma-synuclein is abnormally expressed in a high percentage of tumor tissues of diversified cancer types, but rarely expressed in tumor-matched non-neoplastic adjacent tissues (NNAT).

NNAT

non-neoplastic


Input: The supplementation of FGF-2 and BDNF attenuated various parameters of inflammation, including astrocytosis, microcytosis and IL-1 & #946; expression.

astrocytosis

astrocytosis


Input: Patients with MSI tumors did well in recurrence-free interval (RFI) as well as disease-specific survival (DSS) irrespective of treatment arm and tumor stage.

RFI

tumors


Input: Tracking of the SCG10 pathway in hepatic stellate cells shows that SCG10 initially accumulates in the perinuclear Golgi area then migrates in small vesicle-like structures along individual microtubules.

vesicle


Input: In this study we found further evidence for the association of polymorphism in the EGF gene with pre-eclampsia and the weight of babies at birth and identified rs3756261A > G as the SNP that makes the most significant contribution to this association.

EGF gene

weight


Input: Compared with that in the control group, ADM contents in plasma and right ventricular tissue in hypoxia group increased by 1. 26 and 1. 68 folds (all P < 0. 01), respectively.

ADM

hypoxia


Input: CAR and PXR are involved in the development of certain diseases, including diabetes, metabolic syndrome and obesity.

CAR

diabetes

CAR

diabetes


Input: These conditions are initiated and sustained by hypoxia dependent vascular endothelial growth factor (VEGF) expression in the eye.

VEGF

hypoxia


Input: We found a significant correlation between CRIP1 and HER2 (human epidermal growth factor receptor 2) expression levels (p = 0. 016) in tumor tissues.

tumor


Input: The mean corpuscular volume (MCV) values for males and females were 63. 7 ± 3. 7 and 63. 2 ± 3. 2 fL, respectively, while these values were 19. 3 ± 1. 6 and 19. 3 ± 1. 4 pg for mean corpuscular hemoglobin (Hb) (MCH).

MCH

mean corpuscular hemoglobin


Input: In transient transfections, a luciferase reporter construct containing the full-length 1. 5-kb VEGF promoter or a 1. 2-kb fragment lacking the known hypoxic-response element also exhibited the same degree of response to IL-6.

VEGF

hypoxic


Input: We propose that IGHMBP2 is functionally linked to translation, and that mutations in its helicase domain interfere with this function in DSMA1 patients.


Input: Then, it became progressively restricted from E10. 5 to E12. 5, to become detectable later essentially in the nervous system and various epithelia.

nervous system


Input: Epithelial-mesenchymal transition (EMT) is regarded as a key event in tumor progression.

EMT

tumor progression


Input: We analyzed Melanocortin 2 receptor (MC2R), Androgen Receptor (AR), Leptin (LEP), and Steroidogenic factor 1 (SF1) expression using real-time qRT-PCR in two giant bilateral adrenal myelolipomas from two untreated simple virilizing CAH cases and in two sporadic adrenal myelolipomas.

Androgen Receptor

sporadic


Input: In addition, we demonstrated a close correlation between PAK5 and phospho-Ser39 E47 expression in colon cancer specimens.

colon cancer


Input: Pretreatment with Ad. VEGF (10 (8) pfu) increased endothelial nitric oxide synthase activity in lung tissue and partially restored endothelium-dependent vasodilation in isolated lungs from chronically hypoxic rats, as assessed by improvement of ionophore A23187-induced vasodilation and attenuation of endothelin-1 (300 pmol)-induced vasoconstriction, an effect abolished in the presence of nitro-L-arginine methylester.

VEGF

hypoxic


Input: To identify mutations in 22 families presenting with clinical symptoms of either PC-1/focal non-epidermolytic palmoplantar keratoderma (FNEPPK) or PC-2.

focal non-epidermolytic palmoplantar keratoderma


Input: Previous studies showed that animals presenting seizures and submitted to 24h of status epilepticus showed normal levels of superoxide dismutase and increased in catalase activities as well as an increase in hippocampal lipid peroxidation and nitrite concentrations.

catalase

seizures

catalase

seizures


Input: Overlapping genetic and environmental factors contribute to obesity and infertility including the androgen receptor (AR), a steroid hormone-activated transcription factor that is key in regulating androgen activity and sensitivity to sex hormones, weight and body composition in both males and females.

androgen receptor

weight


Input: All patients with SHP had low serum 1, 25-dihydroxyvitamin D (3) levels and elevated serum levels of intact parathyroid hormone (iPTH), CRP and IL-6.

SHP

SHP


Input: Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c. 2107A--& gt; T, p. 703K--& gt; X) in exon 18 of the CUL4B gene.

Cabezas syndrome

Cabezas syndrome


Input: In microarray experiments that compared normal tubal epithelium with high-grade serous carcinoma (HGSC), we observed a decrease in LKB1 mRNA expression in HGSC.

serous carcinoma


Input: MtDNA-related syndromes can be divided into two groups: mitochondrial encephalomyopathies, characterized by the presence of ragged-red fibres (RRF) as the morphological hallmark, or " pure " encephalopathies with no gross morphological abnormalities in muscle.

RRF

mitochondrial encephalomyopathies


Input: In this study, we also showed that Sp1 was poly (ADP-ribosyl) ated by PARP-1 in hepatoma cells.

hepatoma


Input: Multiple genes showed significant evidence of differential methylation, several appearing in both ulcerative colitis and Crohn' s disease comparisons including THRAP2, FANCC, GBGT1, DOK2, TNFSF4, TNFSF12, and FUT7.

ulcerative colitis


Input: Mutations in as many as 13 genes give rise to ∼ 10 variants of NCL, all with overlapping clinical symptomatology including visual impairment, motor and cognitive dysfunction, seizures, and premature death.

NCL

seizures


Input: Using real-time quantitative RT-PCR assay, we found that the expression of LYL1 was at higher levels in the majority cases of acute myeloblastic leukemia (AML) or myelodysplastic syndrome when compared to normal bone marrow.

myelodysplastic syndrome

myelodysplastic syndrome


Input: In the present study, we observed that IGF-1 was able to induce ZNF143 expression in HCT116 human colon cancer cells and that wortmannin, an inhibitor of phosphatidylinositide 3-kinase (PI3-kinase), inhibited this induction, as did diphenyleneiodonium (DPI), an NADPH oxidase inhibitor, and monodansylcardavarine (MDC), a receptor internalization inhibitor.

MDC

colon cancer


Input: In total, 139 malignant mesothelioma patients were genotyped for seven tag SNPs in REV1 and REV3L.

malignant mesothelioma


Input: In mice and man, loss of ClC-7 or the H (+)-ATPase a3 subunit causes osteopetrosis, a disease characterized by defective bone resorption.

bone resorption


Input: Altogether, our results suggest a role for OSM in the prevention of melanoma progression and that metastatic melanoma cells could escape this growth control by the epigenetic silencing of OSMRbeta.

OSM

melanoma


Input: One hundred and forty two hospitalised patients, affected by major depression and treated with antidepressants drugs for a major depressive episode were evaluated for depressive severity at the baseline and at the discharge and genotyped for five SNPs within the genes HSPA1L, HSPA1A and HSPA1B.

major depression

major depression


Input: An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t (16; 21) chromosomal translocation.

RNA-binding protein

chromosomal translocation


Input: A boy with recurrent episodes of hypoglycaemia and ataxia, microcephaly, mental retardation, permanent lactic acidaemia, intermittent 2-oxoglutaric aciduria as well as elevation of serum branched chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3) deficiency.

dihydrolipoamide dehydrogenase

E3) deficiency

dihydrolipoamide dehydrogenase

E3) deficiency


Input: When human neuroblastoma SH-SY5Y cells were transfected with DJ-1-specific small interfering RNAs and exposed to paraquat, we observed (i) sensitization additive with paraquat-induced apoptotic cell death, (ii) inhibition of the cytoplasmic accumulation of autophagic vacuoles as well as the recruitment of LC3 fusion protein to the vacuoles, (iii) exacerbation of apoptotic cell death in the presence of the autophagy inhibitor 3-methyladenine, and (iv) an increase in mammalian target of rapamycin phosphorylation.

autophagic vacuoles


Input: Here we report that we have detected germline mutations in the VHL gene in 100% (93/93) of VHL families tested.

VHL

VHL

VHL

VHL


Input: Secretion of VEGF is increased by hypoxia and growth factor stimulation.

VEGF

hypoxia


Input: Heterozygous FV: Q506 was found in combination with heterozygous type I deficiency states of protein C (n = 2), protein S (n = 13), antithrombin (n = 8) and HCII (n = 1), increased Lp (a) (n = 13), and once each with elevated levels of F. II, moderate hyperhomocysteinemia, fibrinogen concentrations > 700 mg/dl and increased HRGP.

HRGP

hyperhomocysteinemia


Input: Rare PRSS1 variants found in sporadic chronic pancreatitis do not stimulate autoactivation but may cause increased degradation, impaired secretion or no functional change.

sporadic


Input: The current results suggested that constitutive expression of EphA2 may contribute to the aggressive behavior and cellular survival of MMCs.

aggressive behavior


Input: We studied the association between polymorphisms of genes coding for dopamine D (2) (DRD2), dopamine D (3) (DRD3), serotonin 2 (a) (HTR2A), and serotonin 2 (c) (HTR2C) receptors and Antipsychotic-Induced Parkinsonism (AIP), rigidity, bradykinesia, and rest-tremor in African-Caribbeans treated with antipsychotics.

tremor


Input: In an effort to evaluate the potential diagnostic role of p16INK4a and p14ARF promoter methylation in biliary disease, endoscopical obtained bile specimens of 71 patients were analyzed (26 choledocholithiasis, 6 with normal results, 23 bile duct carcinoma, 5 gall bladder carcinoma).

choledocholithiasis


Input: For this purpose, androgen receptor (AR) and estrogen receptor (ER alpha and ER beta) expression was quantified in 12 clinically localized and 11 hormone-refractory sporadic prostate tumors, using real-time quantitative reverse transcription-PCR assays.

ER beta

sporadic


Input: Aberrant maspin expression in human endometrial cancer.

maspin

endometrial cancer


Input: Vascular endothelial growth factor (VEGF), which is induced by hypoxia or cytokines, plays a critical role in the abnormal growth of blood vessels.

VEGF

hypoxia


Input: The PARK16 SNPs rs823128, rs947211, and rs823156 and the CAAAC, TGAGA, and CAGAC haplotypes may be significantly associated with sporadic PD in Japan.

sporadic


Input: We present a novel technique for estimating breast density based on 3D T1-weighted Magnetic Resonance Imaging (MRI) and evaluate its performance, including for breast cancer risk prediction, relative to two standard mammographic density-estimation methods.

MRI

breast cancer


Input: In contrast, the overexpression of wild-type peripherin, a type of IF gene upregulated by inflammatory cytokines, provoked the formation of toxic IF inclusions with the high-molecular-weight NF proteins resulting in the death of motor neurons during aging.

peripherin

weight


Input: As a consequence of the translocation, a normal-sized BCL2 transcript was overexpressed in tumor cells.

translocation


Input: We examined MC1R and ASIP genotypes in relation to phenotypic characteristics, sporadic and familial melanoma risk, and melanoma thickness as an indicator of disease progression in a Mediterranean population.

ASIP

sporadic


Input: An echocardiographic study of the families of patients with primary carnitine deficiency revealed that the heterozygotes for OCTN2 mutations were predisposed to late onset benign cardiac hypertrophy (odds ratio 15. 1, 95% CI 1. 39-164) compared with the wild-types.

carnitine deficiency

carnitine deficiency


Input: Using dual in situ hybridization as a new tool to detect BCL2 translocation and amplification, we observed similar results as previously reported for fluorescence in situ hybridization for translocation but a higher amplification frequency, indicating that BCL2 amplification may be underreported in DLBCL.

translocation


Input: DNA from 14 follicular and 42 diffuse B-cell lymphomas was examined using oligonucleotide primers specific for opposing sides of the IgH gene rearrangement on chromosome 14 (towards conserved VH and JH sequences) and opposing sides of the t (14; 18) chromosomal translocation (towards the major breakpoint region of the bcl-2 gene on chromosome 18 and conserved JH sequence on chromosome 14).

bcl-2 gene

chromosomal translocation


Input: In vivo, TFPI-2 expression was found to be upregulated 5, 10, and 20 hours (P <. 01) after rat carotid balloon injury, and immunohistochemistry demonstrated TFPI-2 protein in FSS-exposed luminal SMCs, co-localized with caspase-3 in the rat carotid neointima.

neointima


Input: Interestingly, MRG15-deficient cells, similarly to cells deficient in PALB2 or BRCA2, showed reduced efficiency for homology-directed DNA repair and hypersensitivity to DNA interstrand crosslinking agents.

hypersensitivity


Input: Hemoglobin (Hb) electrophoresis was performed in cases with mean corpuscular volume (MCV) < 76 fl, mean corpuscular Hb (MCH) < 27 pg.

MCH

mean corpuscular volume


Input: PD-1 expression during AIM directly correlated with viral load and with the subsequent degree of CD8 + T cell contraction in convalescence.

AIM

viral load


Input: We speculate that the biological consequences of the mutant PDGFB allele contributed to the unique disease phenotype of the translocation patient.

PDGFB

translocation


Input: MIF was abundantly expressed in the non-invasive breast cancer cell lines MDA-MB-468 and ZR-75-1, but not in invasive MDA-MB-231 cells, which in turn expressed higher levels of the MIF-receptor CD74.

breast cancer

breast cancer


Input: Gene expression of NLRP3, CASPASE-1, CD3 & #603; (pan T cells), TBX21 (T (h) 1 cells) and RORC (T (h) 17 cells) was positively, whereas GATA3 (T (h) 2 cells) was inversely correlated with AT inflammation.

RORC

inflammation

RORC

inflammation


Input: Apelin, a small peptide present in a number of tissues and also produced and secreted by adipocytes, has emerged as a new player with potent functions in energy metabolism, and in insulin sensitivity improvement.

Apelin

insulin sensitivity


Input: Monocytes produced NE constitutively, with little regulation by cytokines IL-1beta, TNF-alpha, or IFN-gamma but released it when stimulated by CD40 ligand, a cytokine found in atheroma.

TNF-alpha

atheroma


Input: We report a girl with confirmed LAMB2 mutation who presented with early onset Congenital Nephrotic Syndrome (CNS) with renal failure and ocular findings of bilateral microcoria, persistent hyperplastic primary vitreous, right microphtalmia and left eye cataract.

persistent hyperplastic primary vitreous


Input: We thus concluded that risk genetic variants at FTO gene can accelerate the onset age and influence the survival odds of overweight in younger adults.

FTO gene

overweight


Input: As VEGF can substitute for M-CSF to support osteoclastogenesis in the presence of receptor activator for nuclear factor kappaB ligand (RANKL), we assessed the effect of MG-63 hypoxic conditioned media on osteoclast differentiation.

VEGF

hypoxic


Input: The enhanced proteinuria, score of mesangial proliferation, glomerular PCNA positive cells, activities of phosphorylated PI3-K, Akt1 and STAT3, and reduced p27 (kip1) expression were found on day 4 after nephritis induction.

PCNA

nephritis


Input: We elucidated the mechanism by which netrin-1 released under hypoxic stress can induce epithelial-mesenchymal transition (EMT) to promote invasion in hepatocellular carcinoma (HCC) cells.

hypoxic


Input: Chronic oxidative stress modulates TRPC3 and TRPM2 channel expression and function in rat primary cortical neurons: relevance to the pathophysiology of bipolar disorder.

bipolar disorder

bipolar disorder


Input: This complex analysis shows the important role of PAX9 and MSX1 SNPs and of their interactions in tooth agenesis, while IRF6, FGFR1 and AXIN2 SNPs had no detectable role in the Hungarian population.

tooth agenesis


Input: Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period.

weight gain

weight gain


Input: Autotaxin is the enzyme responsible for the production of lysophosphatidic acid (LPA) from lysophosphatidyl choline (LPC), and it is up-regulated in many inflammatory conditions, including but not limited to cancer, arthritis, and multiple sclerosis.

LPC

multiple sclerosis


Input: Therefore, although induction of cardiac hypertrophy is a multifaceted process, inhibition of Shp2 activity through AKAP-Lbc-anchored PKA is a previously unrecognized mechanism that may promote this compensatory response.

AKAP-Lbc

cardiac hypertrophy


Input: The LEPR gene Gln223Arg polymorphism has been associated with energy metabolism and body weight.

LEPR gene

body weight


Input: We confirmed the underediting at the Q/R site of GluR-B mRNA in the glioma cell lines U87, U251 and A172 compared with that in normal human astrocytes (NHAs) HA1800.

glioma


Input: In this connection, gentisate seems to play a major role in ASA-induced hemolysis for it is both a G-6-PD inhibitor and an " oxidant. "

hemolysis

hemolysis


Input: We investigated the phenotype of cells expressing messenger RNA encoding interleukin 4 (IL-4), IL-5, IL-2, and interferon gamma (IFN-gamma) in bronchoalveolar lavage (BAL) and bronchial biopsies (BX) from seven mild atopic asthmatic patients and nine nonasthmatic controls.

interferon gamma

mild


Input: We examined three patients with APAs showing clear autonomous secretion of cortisol who possessed a 1 mg dexamethasone suppression test (DST) with a failure of the serum cortisol level to drop below 3. 0 μg/dL, a morning plasma ACTH level of less than 10 pg/mL, and suppressed accumulation in the intact adrenal on (131) I-adosterol scintigraphy, or postoperative adrenal insufficiency.

DST

adrenal insufficiency


Input: Localization and hypoxic induction of vascular endothelial growth factor (VEGF) was examined in the spinal cord of transgenic mice carrying a mutation in the superoxide dismutase 1 gene.

VEGF

hypoxic


Input: The findings demonstrate the modelling of B-cell lymphoma bearing the t (14; 18) translocation and the ability to modify the lymphoma process with the use of antisense oligonucleotides to the BCL-2 gene.

BCL-2 gene

translocation


Input: The results showed that adenovirus expressing VHL led to a significant reduction in VEGF expression in vitro under normoxic or hypoxic conditions.

VEGF

hypoxic


Input: We identified CDC91L1, the gene encoding CDC91L1 (also called phosphatidylinositol glycan class U (PIG-U), a transamidase complex unit in the glycosylphosphatidylinositol (GPI) anchoring pathway), as the only gene whose expression was affected by the translocation.

GPI

translocation


Input: To investigate the genetic determinants for microalbuminuria, we studied an insertion (I)/deletion (D) polymorphism of the angiotensin-converting enzyme (ACE) gene, which influences the plasma ACE level, in 333 consecutive hypertensive patients and 113 normotensive control subjects.

ACE

microalbuminuria


Input: Identification of mutations in SDR9C7 in six families with autosomal recessive congenital ichthyosis.

congenital ichthyosis

congenital ichthyosis


Input: VEGF control is by diffusion of isoforms, hypoxic conditions, and bone (mandibular) positioning.

VEGF

hypoxic


Input: Finally, we evaluated the role of L1CAM on tumorigenesis with ATC xenograft assay in a nude mouse model.

tumorigenesis


Input: These genes include GRM7, previously associated to major depression disorder and bipolar disorder, SLC6A13, in anxiety disorders, and S100B, SSTR5 and COMT in schizophrenia.

major depression

major depression


Input: These studies suggest that multiple noncoding elements contribute to the craniofacial regulation of SOX9 expression, and that their disruption results in PRS.

PRS

PRS


Input: ZNF41 maps to a 440-kb YAC spanning this region, while a more proximal cluster comprising the ZNF21 and ZNF81 genes lies 150 kb distal to the chromosome breakpoint associated with synovial sarcoma.

synovial sarcoma


Input: There were 1. 9-and 10. 0-fold decreased expression of STAR and CYP11A1, respectively, in EC versus adjacent control endometrium, with no significant differences in the expression of HSD3B1 and HSD3B2.

STAR

EC

STAR

EC


Input: Almost all CCPRCC-like tumors (82%) lacked the characteristic immunoprofile of sporadic CCPRCC (CK7, CAIX, CD10, AMACR), often showing diffuse CD10 labeling (64%), negative or focal CK7 reactivity (55%), or both (18%).

sporadic


Input: Human follicular B-cell lymphoma is associated with the t (14; 18) chromosomal translocation that juxtaposes the Bcl2 proto-oncogene with the immunoglobulin heavy chain (Igh) locus, resulting in the deregulated expression of Bcl2.

chromosomal translocation


Input: Chromosomal imbalances were assessed by comparative genomic hybridization (CGH) and mismatch repair (MMR) deficiency tested for through assessment of microsatellite instability (MSI) and expression of MLH1 and MSH2 genes.

MMR

microsatellite instability


Input: In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and' mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.

abnormalities


Input: These findings suggest that structural MR imaging of the SCP can provide a surrogate marker of disease severity in FRDA and support the potential role of structural MRI as a biomarker in the evaluation of neurodegenerative diseases and therapies.

SCP

neurodegenerative diseases


Input: Endometrial stromal sarcomas (ESSs) are rare neoplasms, which are currently treated by surgery, whereas effective adjuvant therapies have not yet been established.

ESSs

neoplasms


Input: The amount of the bcl-2 protein and mRNA in the cell lines with t (14; 18) was in the same order of magnitude as in other bcl-2 expressing cell lines of the same lineage, but without the translocation.

translocation


Input: For the health examination subjects, circulating YKL-40 level, but not CHI3L1 gene variants, were positively associated with age, smoking, and circulating levels of triglyceride, lipocalin 2 and multiple inflammatory biomarkers and negatively associated with low-density-lipoprotein cholesterol levels.

lipocalin 2

smoking


Input: Most of the PH1 alleles detected in the Canary Islands carry the Ile-244--& gt; Thr (I244T) mutation in the AGXT gene, with 14 of 16 patients homozygous for this mutation.

AGXT

AGXT


Input: Mutations in genes related to malignancy not previously associated with thyroid tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 additional ATC cases and 8 ATC cell lines.

tumorigenesis


Input: JP-8 exposure in a rat lung alveolar type II epithelial cell line (RLE-6TN) induces biochemical and morphological markers of apoptotic cell death: caspase-3 activation, poly (ADP-ribose) polymerase (PARP) cleavage, chromatin condensation, membrane blebbing, cytochrome c release from mitochondria, and genomic DNA cleavage into both oligonucleosomal (DNA ladder) and high-molecular-weight (HMW) fragments.

PARP

weight


Input: In predefined secondary meta-analyses of individual data, interleukin-27 subunit α, growth/differentiation factor 15, urokinase plasminogen activator surface receptor, tumor necrosis factor receptor superfamily member 6, macrophage colony-stimulating factor 1, and matrix metalloproteinase-7 were also potential risk markers for ischemic stroke after adjustment for multiple comparisons (P < 0. 0006).

urokinase plasminogen activator surface receptor

ischemic stroke


Input: These results suggest that cPLA2 plays an important role in supplying arachidonic acid to the COX-2 driven inflammatory pathway in ALS associated with SOD1 mutations.

ALS

ALS


Input: To determine whether cytokines are generated in vivo in subjects with asthma, we have measured cytokine levels (tumor necrosis factor [TNF], granulocyte-macrophage-colony-stimulating factor [GM-CSF], interleukin [IL]-1 alpha, IL-1 beta, IL-2, IL-4, and IL-6) in the airways of subjects with symptomatic (N = 24) and asymptomatic (N = 9) asthma with immunoassays (GM-CSF, IL-1 alpha, IL-1 beta, IL-2, and IL-4) or bioassays (TNF and IL-6) and the polymerase chain reaction (IL-1 beta and TNF).

asymptomatic


Input: In conclusion, we have shown that CYP26A1 induction is not essential for the granulocytic maturation of NB4 leukemia cells, and that CYP26A1 induction requires the activation of both RARalpha and RXR in these cells.

leukemia


Input: We hypothesized that the dysregulation of RAS was involved in suicide, and examined the association between completed suicides and four functional polymorphisms of RAS-related genes: the angiotensinogen M235T, angiotensin-converting enzyme (ACE) insertion (I)/deletion (D), angiotensin type-1 receptor A1166C, and G-protein-beta3 C825T gene polymorphisms.

suicide


Input: Fgfr2 (S252W/+) mutant mice were established, and their general characteristics, including weight, naso-anal length, and calcium and phosphate content in serum and bone were tested.

weight


Input: The expression of CXCR4 mRNA and protein in three glioma cell lines, U87-MG, SHG-44, and CHG-5, was determined by RT-PCR and immunocytochemistry, respectively.

glioma


Input: Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p. R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p. P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.

tubular aggregate myopathy

tubular aggregate myopathy


Input: The level of Wnt3a expression in HCC patients was obviously higher (P < 0. 001) than that in any group of cases with benign liver diseases.

HCC

liver diseases


Input: Phosphorylated NF-κB (p65) and SP1 protein expression were significantly increased in leiomyoma.

leiomyoma


Input: We found that the murine IgH 3' enhancers increased bcl-2 P2 promoter activity in an episomal model of the translocation, and IgH enhancer region HS12 had the greatest effect.

translocation


Input: While control and TLR4 KO mice demonstrated prominent muscle regeneration, both TLR2 KO and TRIF KO mice exhibited marked necrosis with significant inflammatory cell infiltrate.

necrosis


Input: However, lack of TSC2 resulted in a survival advantage when cells were exposed to hypoxia.

hypoxia


Input: Our results identify defects in SLC25A1 as a cause of combined D-2-and L-2-hydroxyglutaric aciduria.

combined D-2-and L-2-hydroxyglutaric aciduria

combined D-2-and L-2-hydroxyglutaric aciduria


Input: CGIs in putative promoter regions of 34 genes (ABHD9, BARHL1, CLIC5, CNNM1, COL2A1, CPT1C, DDIT4L, DERL3, DHRS3, DPYS, EFEMP2, FAM62C, FAM78A, FLJ33790, GBX2, GPR10, GPRASP1, HOXA9, HOXD11, HOXD12, HOXD13, p14ARF, PAX6, PRDX2, PTPRG, RASD1, RAX, REC8L1, SLC27A3, TGFB2, TLX2, TMEM22, TMEM30B, and UNC5C) were found to be methylated in at least 1 of 13 melanoma cell lines but not in two cultured normal melanocytes.

melanoma

melanoma


Input: A literature review reports increased erythrocyte indices [hemoglobin concentration, hematocrit, mean corpuscular volume, mean corpuscular hemoglobin (MCH), MCH concentration] in subjects with hereditary hemochromatosis (HH).

MCH

mean corpuscular volume


Input: This study aimed to investigate the role of the cytoskeleton-associated protein vasodilator-stimulated phosphoprotein (VASP) on the migration and invasion of human breast cancer cells and its relationship to Rac1 which is a member of the Rho family and has been found to be implicated in tumorigenesis, invasion and metastasis.

VASP

tumorigenesis


Input: In addition, we observed several putative transcription factor binding sites in the TSP-1 promoter, including those for AP-1 (activator protein-1), CREB (cAMP response element binding protein), NF-kappaB (nuclear factor-kappaB), SRF (serum response factor) and HSF (heat-shock factor), by sequence mapping.

serum response factor

shock


Input: TDP-43-expressing cells displayed markedly increased markers of oxidative stress, apoptosis, and necrosis.

necrosis


Input: In the present study, we further elucidate the expression patterns of ORPT and DPD and their clinicopathological significance by immunohistochemical analysis in 221 and RT-PCR in 36 gastric cancer samples.

DPD

gastric cancer

DPD

gastric cancer


Input: It is characterized by a polyclonal expansion of B cells, including typical binucleated lymphocytes, and is associated with the presence of the translocation t (14; 18), involving the bcl-2 oncogene.

translocation


Input: To characterize the molecular features of undifferentiated-type gastric carcinomas that developed as undifferentiated-type, we examined for p53, APC, and epithelial (E)-cadherin gene mutations, microsatellite alterations including loss of heterozygosity (LOH) and microsatellite instability (MSI), and hypermethylation of the E-cadherin gene promoter in 26 early undifferentiated gastric carcinomas, consisting of 14 signet-ring cell carcinomas and 12 poorly differentiated adenocarcinomas.

E-cadherin

microsatellite instability


Input: Although based on limited initial data, this is the first report of a positive association between maternal alcohol consumption during pregnancy and HPRT Mf in human newborns.

HPRT

alcohol consumption during pregnancy

HPRT

alcohol consumption during pregnancy


Input: CD36 (also known as GPIV) deficiency is known to be responsible for the production of anti-Nak (a) antibodies in different clinical settings such as fetal/neonatal alloimmune thrombocytopenia (FNAIT), platelet transfusion refractoriness (PTR) and post-transfusion purpura (PTP).

GPIV

purpura


Input: The difference was statistically significant and did not correlate with smoking, age, CD4 T-cell counts, HIV viral load or levels of dental plaque.

dental plaque


Input: This article highlights a case of a child with severe arterial thrombosis who was heterozygous for the factor V Leiden (FVL) and prothrombin G20210A mutations.

factor V Leiden

arterial thrombosis


Input: To elucidate which subpopulations of women with adverse reproductive outcomes should be screened for NLRP7/C6orf221 variants, we sequenced coding sequence and exon/intron boundaries of NLRP7 and C6orf221 in a well-defined group of 17 women with recurrent miscarriage and additional triploidy or complete hydatidiform moles.

recurrent miscarriage


Input: CGRP infusion did not induce aura symptoms in any of the participants.

CGRP

aura


Input: All ARB mutants investigated produced significantly smaller chloride currents compared to wild-type bestrophin-1.

ARB

ARB


Input: Aldosterone-producing adenoma (APA) is a major cause of primary aldosteronism, leading to secondary hypertension.

APA

secondary hypertension


Input: These data indicate that ENH contributes to differentiation of the nervous system through cytoplasmic sequestration of Id2.

ENH

nervous system


Input: We found the transcript levels of GABA (A) receptor beta 2 (GABRB2) and post-synaptic density-95 (PSD-95) to be significantly decreased in the ACC in mood disorder.

mood disorder

mood disorder


Input: The life-table method of Kaplan-Meier used to define the cardiac arrest-free interval in patients undergoing PES failed to demonstrate an association between PES inducibility and spontaneous occurrence of ventricular fibrillation.

PES

ventricular fibrillation


Input: Up-regulation of HSP70-1 (the inducible isoform) is known to reduce the risk of myocardial cell damage during open-heart surgery and seems to be protective against ischemia.

ischemia


Input: Gene symbol: AGXT. Disease: primary hyperoxaluria type I.

AGXT

primary hyperoxaluria type I

AGXT

primary hyperoxaluria type I


Input: The efficacy prediction of conventional IFN mono-therapy was 100% for non-responder (NR) vs. transient responder (TR)/sustained responder (SR) (P < 0. 0005).

IFN

mono


Input: Methylation status of GATA-4 and GATA-5 CpG islands in human gastric mucosa samples, including normal gastric biopsies from 45 outpatients, gastric dysplasia [low-grade gastric intraepithelial neoplasia (GIN), n = 30; indefinite, n = 77], and 80 paired sporadic gastric carcinomas (SGC) as well as the adjacent non-neoplastic gastric tissues was analyzed by methylation specific polymerase chain reaction (MSP) and confirmed by denatured high performance liquid chromatography (DHPLC).

GATA

sporadic


Input: High levels of ODC and polyamines are associated with numerous types of neoplastic transformation, and the genomic region including AZI is frequently amplified in tumors of the ovary and prostate.

ODC

neoplastic transformation


Input: Using a tagging approach, we tested the hypothesis that common polymorphisms in the transporter genes ABCB1, ABCC2, ABCG2 and the regulator gene NR1I2 could be implicated in lymphoma risk.

lymphoma


Input: Epithelial-mesenchymal transition (EMT) is crucial for tumor progression and metastasis.

EMT

tumor progression


Input: We examined the effect of culturing bone-targeted, metastatic C4-2B prostate cancer cells and bone stromal derived HS27a cells under hypoxic conditions on expression of vascular endothelial growth factor (VEGF) family members.

VEGF

hypoxic


Input: This study investigates the effect of the polymorphisms of-204G/C and 159C/T in the NEP gene on the development of sporadic Alzheimer' s disease (SAD) in a southern Chinese community.

NEP

sporadic


Input: These data indicate that CRF receptor antagonists may be useful for the treatment of the disease states where CRF is elevated such as anxiety and depression, anorexia nervosa and stroke and that ligand inhibitors of CRF-BP may be used to elevate brain levels of' free' urocortin and other CRF-related peptides.

urocortin

depression

urocortin

depression


Input: It is most likely that loss of function of MUTYH in stem or progenitor cells in the intestinal epithelium of MUTYH-associated polyposis patients results in escape from programmed cell death; however, accumulated 8-oxoguanine causes various mutations in APC or KRAS genes in these proliferative cells, thereby promoting tumorigenesis.

MUTYH

tumorigenesis


Input: We tested here the cognitive reserve hypothesis in patients with frontotemporal dementia (FTD), with or without pathogenetic granulin mutations (GRN + and GRN-), and in presymptomatic GRN mutation carriers (aGRN +).

aGRN

frontotemporal dementia


Input: Consistent with the human phenotype, bone histomorphometric and muCT analyses of Rxfp2 (-/-) mice showed decreased bone mass, mineralizing surface, bone formation, and osteoclast surface compared with wildtype littermates.

bone mass


Input: High claudin-4 expression was also associated with worse breast cancer-specific survival (p = 0. 003), recurrence-free survival (p = 0. 025) and overall survival (p = 0. 034).

breast cancer

breast cancer


Input: A novel coexpression and integrated pathway network analysis indicated Prkaa2, Pdk2, Rhoj, and Sgcb are likely to play a central role in the pathophysiology of murine progressive cardiomyopathy in C3H/HeJ mice.

cardiomyopathy

cardiomyopathy


Input: Transfection of PLCB3 to neuroendocrine cell lines lacking expression suppresses the neoplastic phenotype and affects the gene expression of S100A3 and human mismatch repair protein, suggesting a role for PLCB3 in neuroendocrine tumorigenesis.

tumorigenesis


Input: In this study, protein and mRNA expression of MARCKS as well as phosphorylation of MARCKS were determined in the prefrontal cortex (PFC) and hippocampus of postmortem brain obtained from suicide victims, with or without depression, and normal control subjects.

MARCKS

suicide


Input: Wistar rats (1-day old) were subjected to hypoxia and the periventricular white matter (corpus callosum) was examined for the mRNA and protein expression of hypoxia-inducible factor-1alpha (HIF-1alpha), endothelial, neuronal and inducible nitric oxide synthase (eNOS, nNOS and iNOS), vascular endothelial growth factor (VEGF) and N-methyl-D-aspartate receptor subunit 1 (NMDAR1) between 3 h and 14 days after hypoxic exposure by real-time RT-PCR, western blotting and immunohistochemistry.

VEGF

hypoxic


Input: It implied that the cooperating activity of N-ras and c-myc might be responsible for the malignant phenotypic alteration in some or most cases in human primary liver cancer.

N-ras

primary liver cancer


Input: The probability of detecting HC2-targeted types increased with increasing viral load expressed as the relative light unit/positive-control specimen ratio (RLU/PC) (OR for unitary increase of log RLU/PC, 1. 35; 95% confidence interval [CI], 1. 30 to 1. 42) and with STM versus PreservCyt (OR, 1. 56; 95% CI, 1. 25 to 1. 84).

viral load


Input: Patient spinal cord necropsy immunohistochemistry with SOD1 misfolding-specific antibodies revealed misfolded SOD1 in perikarya and motor axons of SOD1-familial ALS (SOD1-FALS), and in motor axons of R521C-FUS FALS and sporadic ALS (SALS) with cytoplasmic TDP43 inclusions.

FUS

sporadic


Input: These data provide the first evidence that topotecan is a potent inhibitor of HIF-1alpha and HIF-2alpha subunits in hypoxic neuroblastoma cells, leading to decreased VEGF expression and angiogenic activity.

VEGF

hypoxic


Input: Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

FLNA

Frontometaphyseal dysplasia

FLNA

Frontometaphyseal dysplasia


Input: In natural human tumors, Ero1-L alpha mRNA was specifically induced in hypoxic microenvironments coinciding with that of upregulated VEGF expression.

VEGF

hypoxic


Input: Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson' s disease.

Wilson' s disease

Wilson' s disease


Input: Immediately after ischemia there was a significant induction of both HSP70i genes.

ischemia


Input: Results showed hypoxia induced not only the increase of IGF-2 and VEGF expression but also the activation of their upstream regulatory genes, HIF-1alpha and Shh.

VEGF

hypoxia


Input: Although these MRI features were suggestive of Rathke' s cleft cyst, cystic craniopharyngioma or previous hemorrhage, no visual symptoms, diabetes insipidus and/or hyperprolactinemia were present.

MRI

craniopharyngioma


Input: However, when stained with beta-amyloid precursor protein, multifocal axonal injury was evident in the brain, spinal cord, and nerve roots.

beta-amyloid precursor protein

spinal cord

beta-amyloid precursor protein

spinal cord


Input: The sub-cellular distribution studied in the sigma receptor positive human H460 lung cancer cells indicated that LCP-II could release more cargo to the cytoplasm than our previous lipid/protamine/DNA (LPD) formulation, leading to a significant (~ 40 fold in vitro and ~ 4 fold in vivo) improvement in siRNA delivery.

LPD

lung cancer


Input: To investigate the clinical, neurophysiological, histopathological, and genetic features in 4 patients with MM from 2 unrelated Chinese families demonstrating linkage to the dysferlin locus.

dysferlin

MM

dysferlin

MM


Input: The well-differentiated colorectal carcinoma cell lines were' hypoxia-resistant' showing unchanged levels of HIF-1 alpha and VEGF under hypoxia.

VEGF

hypoxia


Input: We now report a subsequent analysis of HIF2A in a cohort of 75 erythrocytosis patients and identify 4 additional patients with novel heterozygous Met535Val and Gly537Arg mutations.

erythrocytosis


Input: No translocation of Bcl-2 or Bcl-2/Delta34 to the cytosolic fraction was detected during apoptosis.

translocation


Input: Overexpression of focal adhesion kinase correlates with increased lymph node metastasis and poor prognosis in non-small-cell lung cancer.

focal adhesion kinase

lymph node metastasis


Input: After hypoxia, VEGF mRNA levels increased 1. 8-fold in stromal cells and 3. 4-fold in glandular epithelial cells.

VEGF

hypoxia


Input: In the present study, three common Japanese polymorphisms of the Fyn gene (-93A/G in the 5'-flanking region, IVS10 + 37T/C in intron 10 and Ex12 + 894T/G in the 3'-untranslated region) were studied in 127 healthy controls and 182 sporadic AD cases using a polymerase chain reaction restriction fragment length polymorphism method.

Fyn gene

sporadic


Input: We identified homozygous mutations in KIF14 (NM_014875. 2; c. 263T & gt; A; pLeu88 *, c. 2480_2482delTTG; p. Val827del, and c. 4071G & gt; A; p. Gln1357 =) as the likely cause in 3 MCPH families.

MCPH

MCPH


Input: Our results indicate that ERK and JNK mediate collagen I expression and scarring of the rabbit ear, and may be considered for specific drug therapy targets for HTSs.

JNK

scarring


Input: Our findings link NRXN2 disruption to the pathogenesis of ASD for the first time and further strengthen the involvement of NRXN1 in SCZ, supporting the notion of a common genetic mechanism in these disorders.

SCZ

SCZ


Input: These data suggest a model for BRCA1 carcinogenesis in which genomic instability leads to the initiation of cancerous cell clones, while loss of normal restraint on hormonal stimulation of mammary epithelial cell proliferation allows amplification of these pre-existing clones.

genomic instability


Input: The t (8; 21) translocation between two genes known as AML1 and ETO is seen in approximately 12-15% of all acute myeloid leukemia (AML) and is the second-most-frequently observed nonrandom genetic alteration associated with AML.

translocation


Input: This study was therefore performed to elucidate the genetic characteristics of Korean patients with nonsyndromic sensorineural hearing loss and to determine the pathological mechanism of hearing loss by analyzing the intercellular communication function of Cx30 and Cx31 variants.

nonsyndromic sensorineural hearing loss


Input: MiR-122 as a biomarker also has the potential to bridge results in in vitro experiments to in vivo animal models and human samples using the same assay, and to link findings from clinical studies in determining the relevance of in vitro models being developed for the study of drug-induced liver injury.

drug-induced liver injury

drug-induced liver injury


Input: Certain chemokines, such as CCL2 and CX3CL1, appear to be crucial in subretinal microglia and macrophage accumulation observed in AMD, and participate in the development of retinal degeneration as well as in choroidal neovascularization.

retinal degeneration


Input: We identified two different missense mutations in the CAPN5 gene in three ADNIV kindreds.

ADNIV

ADNIV


Input: The correlation coefficients between HLA-DQA1 * 0104 and atopy, HLA-DQB1 * 0201 and atopy, and HLA-DQA1 * 0301 and atopy were 0. 813 (P < 0. 01), 0. 289 (P < 0. 01), and-0. 168 (P < 0. 05) respectively.

atopy


Input: The abundance of the adiponectin receptors, AdipoR1 and AdipoR2, and the effects of the antidiabetic adipokine adiponectin in monocytes of normal-weight and overweight controls and type 2 diabetic patients (T2D) were analyzed.

weight


Input: Furthermore our data suggest that nestin expression can be induced by hypoxia, and that this increase in nestin is partially regulated by HIF-1α and VEGF.

VEGF

hypoxia


Input: The effects of GnRHa on the number of viable cells, expression of proliferating cell nuclear antigen (PCNA), Fas and Fas ligand, and apoptosis in cultured leiomyoma cells were examined by MTT (3-(4, 5-dimethylthiazol-2-yl)-2, 5-diphenyl tetrasodium bromide) assay, immunocytochemical analysis, Western blot analysis and TUNEL assay respectively.

Fas ligand

leiomyoma


Input: Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A.

FVIII

hemophilia A

FVIII

hemophilia A


Input: The DNA damage repair genes, mutY and mutM, prevent G to T mutations caused by reactive oxygen species in Escherichia coli, but it has remained debatable whether deficiencies in their mammalian counterparts, Myh and Ogg1, are directly involved in tumorigenesis.

Myh

tumorigenesis


Input: The age-and smoking-adjusted OR for ADH2 A/A relative to G/A and G/G was 1. 60 (95% CI = 1. 08-2. 36), and the adjusted OR for ALDH2 G/G relative to G/A and A/A was 1. 79 (95% CI = 1. 19-2. 69).

smoking


Input: Neutrophil gelatinase-associated lipocalin (NGAL) and its cell surface receptor, NGALR, have been implicated in tumorigenesis and tumor progression of various human malignant neoplasms.

NGAL

tumorigenesis


Input: In addition, the identification of Bcl-xL/Bax as target of protection by alsin and of cytotoxicity by the mutant form provides a new signalling event regulated by alsin protein that may be important to define its role in neuronal physiology and neurodegeneration.

alsin

neurodegeneration


Input: Recently, signal transducers and activators of transcription 5 (STAT5) has been linked to tumor progression by EMT induction.

EMT

tumor progression


Input: These and other data suggest that genes at 18q21. 3, other than BCL2 and FVT1, may be targets for translocation in certain subgroups of B-NHL.

translocation


Input: Significant genes in myeloma plasma cells from patients that were associated with early-onset bortezomib-induced peripheral neuropathy were the enzyme coding genes RHOBTB2 (upregulated by 1 & #183; 59 times; p = 4 & #183; 5 & #215; 10 (-5)), involved in drug-induced apoptosis, CPT1C (1 & #183; 44 times; p = 2 & #183; 9 & #215; 10 (-7)), involved in mitochondrial dysfunction, and SOX8 (1 & #183; 68 times; p = 4 & #183; 28 & #215; 10 (-13)), involved in development of peripheral nervous system.

peripheral neuropathy

peripheral neuropathy


Input: Our data indicate that, among these genetic factors, factor V Leiden was identified as an important risk factor for arterial thrombosis in this group of patients.

factor V Leiden

arterial thrombosis


Input: Our data identify a highly recurrent genetic alteration of RELA in human cancer, and the C11orf95-RELA fusion protein as a potential therapeutic target in supratentorial ependymoma.

ependymoma

ependymoma


Input: There were significant differences in cytokine (IL-8, IL-1beta, IL-6, TNF-alpha, IL-12) levels of BAL fluid between patients with PF and healthy controls.

PF

PF


Input: The majority of synovial sarcomas harbor a specific chromosomal translocation in which the proximal portion of the SYT gene at chromosome 18q11 is fused to the distal portion of one of several duplicated SSX genes (most notably SSX1 and SSX2) at chromosome Xp11.

chromosomal translocation


Input: In human astroglial brain tumours, up-regulation of TRF1 and TRF2 occurs in the early stages of carcinogenesis determining telomeres shortening and genomic instability.

genomic instability


Input: We describe an interesting case-report represented by a patient carrying BRCA1 mutation, recruited for the study " Multicenter evaluation of Magnetic Resonance Imaging (MRI) in early diagnosis and prevention of breast cancer in high risk population ", diagnosed with breast cancer on the basis of MRI findings but not with conventional mammography and ultrasound (US).

MRI

breast cancer


Input: Expression of securin was significantly correlated with the extent of aneuploidy but not with basic fibroblast growth factor immunoreactivity or microvessel density.

securin

aneuploidy


Input: CYP ω-hydroxylase promotes tumor angiogenesis and metastasis by upregulation of VEGF and MMP-9 via PI3 K and ERK1/2 signaling in human NSCLC cells.

metastasis


Input: Hypoxia inducible factor-1α (HIF-1α) is a crucial microenvironmental factor in tumor progression, which induces the expression of EMT factors.

EMT

tumor progression


Input: We investigated on parental history and IgE serum level in 2588 consecutive newborns to individuate babies " at risk " of atopy at birth and we analysed the polymorphisms of class III region to evaluate the association with immunogenetic markers of HLA: C4A, C4B, LTA, RAGE and TNFA genes; we performed TNF and IgE receptor (FCERB1) physiologically related gene polymorphisms.

TNF

atopy


Input: CDP occurs in a variety of genetic disorders associated with skeletal dwarfism and can also be caused by prenatal exposure to warfarin.

CDP

dwarfism


Input: LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.

mucolipin 1

mucolipidosis type IV

mucolipin 1

mucolipidosis type IV


Input: Induction of a CD1 antisense gene in a human colon cancer cell line resulted in rapid, concomitant changes in CD1 mRNA and protein, cyclin E, cdk2, cdk4, and cdk6, as well as the ratio of ppRb to pRb.

colon cancer


Input: METHODS: Formalin-fixed, paraffin-processed pancreas samples from patients with type 1 diabetes (T1D), insulinoma, pancreatic ductal adenocarcinoma (PDAC), and normal organ donors were studied by bright-field and multifluorescence immunohistochemistry to examine B7-H4 expression and its colocalization with islet endocrine hormones.

pancreatic ductal adenocarcinoma


Input: We find that cells infected with the adenoviral-hsp70i construct are rendered tolerant to simulated ischemia as compared to cells infected with a control recombinant adenoviral construct.

ischemia


Input: Quantitative trait analyses in mice suggest a vulnerability locus for physiological alcohol withdrawal severity on a chromosomal segment that harbors the genes encoding the alpha1, alpha6, beta2, and gamma2 subunits of the gamma-aminobutyric acid type-A receptor (GABR).

alcohol withdrawal


Input: In conclusion, serum AGF levels were paradoxically increased in metabolic syndrome, in comparison with data from animal experiments and data on sex, age, and waist circumference.

AGF

waist circumference


Input: Aflibercept reduced primary VEGF/VEGFR-positive AML colony formation growth in vitro and inhibited AML xenograft growth up to 93% in association with antiangiogenic and antiproliferative effects, hypoxia, and VEGF sequestration in multiple models.

VEGF

hypoxia


Input: Hereditary nonpolyposis colon cancer (HNPCC) syndrome is characterized by germline mutations in the mismatch repair (MMR) genes and by microsatellite instability (MSI) in component tumors.

MMR

microsatellite instability


Input: We investigated in this study the potential relationship between the host (human) genetic polymorphisms (glucose-6-phosphate dehydrogenase [G6PD], mannose binding lectin [MBL], tumor necrosis factor alpha [TNFalpha] (-308) and (-238), and nitric oxide synthase 2 [NOS2] (-954)) and the prevalence and profile of asymptomatic P. falciparum infection in 158 Gabonese schoolchildren.

asymptomatic


Input: In conclusion, we described a significant association between eNOS gene polymorphisms and type 2 diabetes, suggesting a new genetic susceptibility factor for hyperinsulinemia, insulin resistance, and type 2 diabetes.

eNOS

insulin resistance

eNOS

insulin resistance


Input: In the course of HCV-related chronic liver diseases, chronic inflammation and host genetic/epigenetic alterations additively shift the hepatocytic Smad3 phospho-isoform signaling from tumor suppression to carcinogenesis, increasing the risk of HCC.

HCC

liver diseases


Input: The predicted amino acid sequence of this tumor-suppressing factor has a significant sequence homology to mouse mammary-derived growth inhibitor and thus was named mammary-derived growth inhibitor-related gene (MRG).

MRG

tumor


Input: NF1 microdeletion syndrome is more severe than NF1 caused by gene mutations, with individuals exhibiting facial dysmorphisms, developmental delay (DD), intellectual disability (ID), and excessive neurofibromas.

NF1 microdeletion syndrome

NF1 microdeletion syndrome


Input: The 3 tested single nucleotide polymorphisms (SNPs) in TIM 3 were significantly related to atopy and eczema.

TIM

atopy


Input: The neuroprotective activity of ATM may be negatively regulated by deacetylation since mutations in a protein deacetylase gene, RPD3, suppressed neurodegeneration, and a human homolog of RPD3, histone deacetylase 2, bound ATM and abrogated ATM activation in cell culture.

histone deacetylase 2

neurodegeneration


Input: Our results suggest that abnormal expression of p63 may be involved in the early phases of laryngeal tumorigenesis irrespective of p53 gene status and that TA-p63 mRNA down-regulation, but not p63 IR, may be clinically relevant in patients with LSCC.

tumorigenesis


Input: Assessed against these normal tissue-specific methylation states, S100A6 and S100A10 demonstrated tumour-specific hypermethylation in medulloblastoma primary tumours (5 out of 40 and 4 out of 35, respectively, both 12%) and cell lines (both 7 out of 9, 78%), which was associated with their transcriptional silencing.

medulloblastoma

medulloblastoma


Input: We determined the effects of androgen, cadmium, and arsenic on MT1/2 and MT3 in prostate carcinoma cells, and evaluated the functional effects of MT3 on cell proliferation, invasion, and tumorigenesis.

prostate carcinoma


Input: In BPD, the expression of HDAC4 mRNA was increased only in a depressive state, and the expression of HDAC6 and-8 was decreased in both depressive and remissive states compared to controls, whereas the first-degree relatives did not show any significant alteration in expression levels.

depressive state

depressive state


Input: We demonstrate that either pre-or post-ischemia treatment with 40 mg/kg of N-bis-(3-phenyl-propyl) 9-oxo-fluorene-2, 7-diamide, a novel PARG inhibitor, significantly reduces brain infarct volumes by 40-53% in a rat model of focal cerebral ischemia.

PARG

ischemia