Input: Attenuation of IRSp53 reduced cell proliferation of IV5 in culture dish and tumor formation in mice, which could be partly rescued by ectopically expressed human IRSp53S.

dish


Input: For p15 no band shifts were observed for exons 1 to 2 in TGCT or testicular cancer cell lines; none of benign testicular tumors or normal control tissues demonstrated any band shifts for p15 or p16.

testicular cancer


Input: P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg syndrome.

Shprintzen-Goldberg syndrome

Shprintzen-Goldberg syndrome


Input: Among the cases under study, two tumors carried novel SS18-SSX1 and SS18-SSX2 variant translocations that were allegedly created by an alternative splicing, and in additional case, an unusual translocation variant previously described by other group was found.

translocation


Input: Diabetic Timp3 (-/-) mice showed increased albuminuria, increased membrane thickness and mesangial expansion.

albuminuria


Input: Gene expression profiling with microarray and SAGE identifies PLUNC as a marker for hepatoid adenocarcinoma of the stomach.

SAGE

hepatoid adenocarcinoma


Input: We have previously reported that severe pre-and post-natal growth restriction associated with insulin resistance and precocious pubarche in a woman without body asymmetry or other SRS features resulted from a balanced translocation affecting the regulation of her IGF2 gene expression.

IGF2 gene

insulin resistance


Input: We resequenced the genomic DNA of the EGR2, which has a specific function in the myelination of peripheral nervous system, in 543 schizophrenic patients and 554 non-psychotic controls.

psychotic


Input: We conclude, on the basis of the results recorded in this study and those in previous reports, that the pathogenesis of atypical Fabry disease is closely associated with point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: Serum adiponectin correlated positively with QUICKI and serum omentin-1 but negatively with body weight, BMI, and homeostasis model assessment of insulin resistance (HOMA-IR).

omentin

body weight


Input: When tumors were tested for microsatellite instability (MSI) phenotype status or mismatch-repair protein-immunohistochemical (MMR-IHC) expression, those results also were reviewed, and LS-associated histopathologic features were documented in 38 available patients.

MMR

microsatellite instability


Input: The significance of this alteration to BCL2 function in translocation-carrying tumors remains to be determined.

translocation


Input: weight, height, BMI, waist circumference (WC), waist-to-hip ratio (WHR), body fat distribution (DXA), serum CRP and IL-6, insulin sensitivity/resistance indices, and IL-6 174G_C gene polymorphism, in healthy non-obese Polish subjects: 232 women (age 31. 4 +/-5. 5 years) and 199 men (age 30. 3 +/-6. 0 years).

CRP

waist-to-hip ratio


Input: Because Fabry disease and primary erythromelalgia share similar symptoms, it is a good strategy for clinical physicians to perform genetic mutation screenings on both SCN9A and GLA genes in those patients with limb burning pain but without a clear inheritant pattern.

GLA

Fabry disease

GLA

Fabry disease


Input: Fluorescence in situ hybridization (FISH) and quantitative real-time polymerase chain reaction (QRT-PCR) were used to diagnose or screen for minimal residual disease (MRD) in Philadelphia (Ph) chromosome-positive leukemia.

FISH

leukemia


Input: Preserved sigma1 receptor expression and enhanced behavioral efficacy of sigma1 agonists were measured in SAM animals, confirming the therapeutic opportunities for selective ligands against age-related mood disorders.

sigma1 receptor

mood disorders

sigma1 receptor

mood disorders


Input: Our findings may provide initial evidence that the ALDH2 and DRD2/ANKK1 genes interact in specific subtypes of bipolar disorders.

bipolar disorders

bipolar disorders


Input: Negative emotionality: monoamine oxidase B gene variants modulate personality traits in healthy humans.

monoamine oxidase B gene

personality traits


Input: We investigated the effect of functional polymorphisms in the MHC2TA gene (CIITA), and two additional genes; C-type lectin domain 16A (CLEC16A), in linkage disequilibrium with CIITA and Interferon-γ (IFNG), an inducer of CIITA; on bone density, bone resorption markers, bone loss and fracture risk in 75 year-old women followed for up to 10 years (OPRA n = 1003) and in young adult women (PEAK-25 n = 999).

CIITA

bone resorption


Input: Azidothymidine (AZT)-induced anemia in mice can be reversed by the administration of IGF-IL-3 (fusion protein of insulin-like growth factor II (IGF II) and interleukin 3).

insulin-like growth factor II

anemia

insulin-like growth factor II

anemia


Input: Tempol attenuated cardiac hypertrophy in G4H (-/-) mice (heart: tibia, Con 6. 82 ± 0. 35, G4H (-/-) 8. 83 ± 0. 34, Con + T 6. 82 ± 0. 46, G4H (-/-) + T 7. 57 ± 0. 3), without changing GSH: GSSG, glutathione peroxidase 4 or membrane translocation of the p67 (phox).

cardiac hypertrophy


Input: Enhanced IkappaB kinase activity is responsible for the augmented activity of NF-kappaB in human head and neck carcinoma cells.

NF-kappaB

head and neck carcinoma


Input: This is the first report of MAD presenting with confirmed myopathic abnormalities associated with ZMPSTE24 defects, extending the clinical spectrum of ZMPSTE24 gene mutations.

MAD

abnormalities


Input: Transgenic mice, referred to as K14. COX2 mice, were readily distinguished from their nontransgenic littermates by the appearance of significant alopecia.

alopecia


Input: Thirteen of these markers of brain amyloid burden--c-peptide, fibrinogen, alpha-1-antitrypsin, pancreatic polypeptide, complement C3, vitronectin, cortisol, AXL receptor kinase, interleukin-3, interleukin-13, matrix metalloproteinase-9 total, apolipoprotein E and immunoglobulin E--were used along with co-variates in multiple linear regression, and were shown by cross-validation to explain > 30% of the variance of brain amyloid burden.

amyloid


Input: In patients with IBS with diarrhea or alternating, dronabinol reduces fasting colonic motility; FAAH and CNR1 variants could influence the effects of this drug on colonic motility.

FAAH

diarrhea


Input: Reverse transcription-PCR and Northern blot analysis demonstrated that all four tested human pancreatic cancer cell lines, PK-1, PK-8, PK-9, and MIA Paca-2, expressed PPARgamma mRNA.

PPARgamma

pancreatic cancer

PPARgamma

pancreatic cancer


Input: These data support a critical role for the NK-1 receptor in the expression of sustained morphine-induced hyperalgesia.

NK-1 receptor

hyperalgesia

NK-1 receptor

hyperalgesia


Input: Expression of TIAR protein was also increased in parietal cortex 6 and 24 hr after 90 min of focal cerebral ischemia induced by middle cerebral artery (MCA) occlusion, as well as in cultured cortical neurons and astroglia after exposure to hypoxia in vitro.

TIAR

hypoxia


Input: The HAL-1/13-Ku80 antigen is present on the surface of leukemic and solid tumor cell lines, including T and B lymphomas, myeloid leukemias, neuroblastoma, rhabdomyosarcoma, and breast carcinoma cells.

HAL

breast carcinoma


Input: Mutational analysis revealed that EPM2 patients are homozygous for loss-of-function mutations in EPM2.


Input: By flow cytometry, a panel of 18 primary glioma cell explants exhibited high expression of class I HLA-A, B, C, but class II HLA-DR expression was absent.

HLA-A

glioma

HLA-A

glioma


Input: These RNF168-dependent chromatin modifications orchestrate the accumulation of 53BP1 and BRCA1 to DNA lesions, and their loss is the likely cause of the cellular and developmental phenotypes associated with RIDDLE syndrome.

RIDDLE syndrome

RIDDLE syndrome


Input: To evaluate the ability of a dendritic cell (DC) vaccine to target subdominant EBV antigens LMP1 and LMP2 expressed by NPC cells, we vaccinated patients using autologous DCs transduced with an adenovirus encoding a truncated LMP1 (ΔLMP1) and full-length LMP2 (Ad-ΔLMP1-LMP2).

adenovirus


Input: In individuals with inherited insulin resistance, we observed largely the same defects in insulin action on IRS1, PI3K, Akt2 and GS, as well as a normal inhibition of GSK3 and dephosphorylation of GS at site 3a + 3b.

insulin resistance


Input: Conditional doxycycline-induced upregulation of EZH2 in benign mammary epithelial cells results in nuclear export of BRCA1 protein, aberrant mitoses with extra centrosomes, and genomic instability.

genomic instability


Input: The bcl-2 gene and 14; 18 translocation in lymphoproliferative disorders.

bcl-2 gene

translocation


Input: A high concentration of glucose (HG) was utilized to treat HeLa cells under hypoxic or normoxic conditions, and transcriptional levels of HIF-1, VEGF, and basic fibroblast growth factor (bFGF) were evaluated.

VEGF

hypoxic


Input: In addition, we observed structural and connectivity perturbations in the mitochondrial network, associated with alterations in the profusion protein OPA1, which was similarly reduced in schizophrenia prefrontal cortex specimens.

schizophrenia

schizophrenia


Input: The aim of this study was to determine whether mutation of PTEN leads to increased genomic alteration in advanced cervical carcinoma, and to identify the correlation between mutation of PTEN and patient outcome after radiotherapy.

PTEN

advanced cervical carcinoma


Input: We investigate the interaction of EGFR SNPs and HRT for lung adenocarcinoma risk in never-smoking women.

EGFR

smoking


Input: In conclusion, FAK overexpression of ESCC was related to cell differentiation, tumour invasiveness, and lymph node metastasis.

FAK

lymph node metastasis


Input: Mutations in ABCA1 cause Tangier disease characterized by defective cholesterol homeostasis and high density lipoprotein (HDL) deficiency.

Tangier disease

Tangier disease


Input: The diagnosis of MTS relies largely on the microsatellite instability (MSI) phenotype in tumors, suggesting germline mutations in DNA mismatch repair (MMR) genes responsible for the inherited disease.

MMR

microsatellite instability


Input: However, the C-allele carrier group had significantly higher mean body weight, body mass index, leptin levels, and higher indices of insulin resistance compared with women with GNAS1 TT-genotype.

insulin resistance

insulin resistance


Input: MCIP1 overexpression suppresses left ventricular remodeling and sustains cardiac function after myocardial infarction.

ventricular remodeling


Input: Molecular analysis of the SLC2A1 gene identified a novel homozygous c1402C > T (p. Arg468Trp) mutation in exon 10 in the index patient and her asymptomatic younger sister.

SLC2A1 gene

asymptomatic


Input: This replication effort identified five new SLE susceptibility loci (P & lt; 5 x 10 (-8)): TNIP1 (odds ratio (OR) = 1. 27), PRDM1 (OR = 1. 20), JAZF1 (OR = 1. 20), UHRF1BP1 (OR = 1. 17) and IL10 (OR = 1. 19).

SLE

SLE


Input: The relationship between single nucleotide polymorphism (SNP) of interleukin-17 (IL-17A), transforming growth factor β (TGF-β), as well as its receptor (TGFR-β2) and susceptibility to intracerebral hemorrhage in patients with brain arteriovenous malformation (BAVM) was investigated in the present study.

TGF-β

intracerebral hemorrhage


Input: Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene.

HHH) syndrome

HHH) syndrome


Input: A novel PMP22 mutation, deletion of Phe84, was found in one sporadic DSS patient.

DSS

DSS


Input: Several genes and transcripts involved in lipolysis were down-regulated, such as AKAP1, PRKAR2B, Gi and CIDEA, whereas NPY1R and CES1 were up-regulated, when comparing obese to lean subjects.

obese

obese


Input: CONCLUSIONS: Complex, protein truncating TP53 mutations in BRCA1-mutated tumors may be a direct consequence of genomic instability caused by BRCA1 loss, therefore, the presence of these types of TP53 mutations in sporadic BLBCs might be a hallmark of BRCAness and a potential biomarker for sensitivity to PARP inhibition.

genomic instability


Input: Perinatal IL-1beta production in these mice causes a phenotype that is strikingly similar to BPD.

BPD

BPD


Input: TNF-1 (GG) and TNF-2 (GA and AA) allele carriers were compared with respect to body mass index, fat/lean body mass composition, waist-to-hip ratio, as well as fasting lipids, glucose, leptin, and insulin fasting, and during the oral glucose tolerance test (4 points within 2 hours) and oral lipid tolerance test (OLTT; 5 points within 8 hours).

TNF

waist-to-hip ratio


Input: We previously reported a new mouse model of COPD utilizing the human surfactant protein C promoter SP-C to drive the expression of mature mouse IL-18 cDNA; constitutive IL-18 overproduction in the lungs of transgenic (Tg) mice induces severe emphysematous change, dilatation of the right ventricle, and mild pulmonary hypertension with aging.

mild


Input: The level of integrin alpha (v) beta3 and its ligand osteopontin (OPN) has been directly correlated to tumorigenicity of melanoma and other cancer cells.

melanoma


Input: However, there have been no reports showing the expression and function of Espin in cancers, including melanoma.

Espin

cancers


Input: Sections from paraffin-embedded blocks of surgically resected specimens of gallbladder cancer (GBC) (80 cases), chronic cholecystitis (60 cases), and control gallbladders (10 cases) were stained with the monoclonal antibody p53, and polyclonal antibody beta-catenin.

beta-catenin

chronic cholecystitis


Input: We compared different combinations of cytokines containing interleukin-1 alpha (IL1), interleukin-3 (IL3), stem cell factor (SCF), leukemia inhibitor factor (LIF), Flt3-ligand (FLT3L), and thrombopoietin (TPO).

SCF

leukemia


Input: TGF-beta was expressed in normal brain, in CM, and in meningitis and encephalitis.

TGF-beta

encephalitis


Input: In prior work we found that EC cells are hypersensitive to low nanomolar doses of 5-aza deoxycytidine (5-aza) and that this hypersensitivity partially depended on unusually high levels of the DNA methyltransferase, DNMT3B.

hypersensitivity


Input: After RRSO, the breast cancer risk in BRCA1 and BRCA2 mutation carriers is still high enough to justify intensive breast cancer screening with MRI and mammography.

MRI

breast cancer


Input: SPOP suppresses tumorigenesis by regulating Hedgehog/Gli2 signaling pathway in gastric cancer.

tumorigenesis


Input: We provide evidence that the expression of vascular endothelial growth factor (VEGF) and of the VEGF receptor-2 (Flk-1), a signaling system centrally involved in tumor angiogenesis, occurs efficiently in tumors formed by Ras-transformed mammary epithelial cells and that both TGF-beta1 and hypoxia are potent inducers of VEGF expression in these cells.

VEGF

hypoxia


Input: High-grade serous (HGS) carcinoma is the most clinically important histological subtype of ovarian cancer.

HGS

carcinoma


Input: Class I and class II HLA genes are thought to play a role in the immunopathogenesis of bullous dermatoses such as pemphigus vulgaris and pemphigus foliaceus, but we know little about the genetic background of paraneoplastic pemphigus (PNP) in Chinese patients.

PNP

paraneoplastic pemphigus


Input: This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200, 000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology.

blood pressure


Input: Northern blot analysis showed an increased VEGF mRNA level in both carcinoma cells with hypoxia, while hypoxia did not affect the bFGF mRNA level in either cell line.

VEGF

hypoxia


Input: In this study, we investigate the role of hypoxia in regulating expression of netrin-1 and its receptor uncoordinated-5-B receptor (Unc5b) in plaque macrophages and its functional consequences on these immune cells.

hypoxia


Input: In addition, the hypoxia induction of PGI/AMF expression was suppressed by inhibitors of vascular endothelial growth factor (VEGF) or VEGF receptors, suggesting that hypoxia-inducible VEGF regulates the PGI/AMF expression.

VEGF

hypoxia


Input: GABRB2 in schizophrenia and bipolar disorder: disease association, gene expression and clinical correlations.

bipolar disorder

bipolar disorder


Input: Functional studies revealed that ongoing NR0B1 expression is required for the transformed phenotype of Ewing' s sarcoma.

sarcoma


Input: We hypothesized that the inhibitory properties of the Ebp1 gene could be beneficial if ectopically expressed in oral squamous cell carcinoma (OSCC) cells.

squamous cell carcinoma


Input: Exogenous RPL23-induced wt p53 stabilization and activation may be a novel therapeutic approach for patients with gastric cancer.

gastric cancer


Input: It has been suggested that the cellular response to exposure to ionizing radiation involves activation of the transcription factor nuclear factor-kappaB (NF-kappaB) and that this response is defective in cells from individuals with ataxia telangiectasia (AT).

NF-kappaB

ataxia telangiectasia


Input: We genotyped 1, 206 male and 1, 445 female participants of the FOS for four single-nucleotide polymorphism (SNPs) in PLIN1 and seven SNPs in PLIN4 and tested for associations with measures of BMD, bone ultrasound, hip geometry, and height.

FOS

height


Input: The contribution of mutations in the prothrombin (FII G20210A), methylenetetrahydrofolate reductase (C677T) genes and factor V Leiden (FVL) to the pathogenesis of arterial thrombosis remains controversial.

factor V Leiden

arterial thrombosis


Input: The TCR delta gene was rearranged in four lymphomas although the gamma/delta TCR was not expressed in two cases studied.

TCR delta gene

lymphomas


Input: METHODS: We evaluated the methylation status of four genes (TGFB2, SLIT2, HS3ST2, and TMEFF2) in biopsies of four groups of patients: 60 patients with sporadic CRC, 32 patients with IBD-associated neoplasia, 85 patients with IBD without associated neoplasia (20 at high risk and 65 at low risk), and 28 healthy controls.

sporadic


Input: This study aimed at identifying the presence of these rearrangements in human colorectal adenocarcinoma specimens using a 4-target, 4-color break-apart FISH assay to simultaneously determine the genomic status of ALK and ROS1.

FISH

colorectal adenocarcinoma


Input: Our data show that the bone metastasis and anti-apoptotic effects found in Ras signaling-activated prostate cancer cells require miR-34a deficiency, which in turn aids in cell survival by activating the WNT and anti-apoptotic signaling pathways thereby inducing TCF7 and BIRC5 expressions.

aids


Input: In ERA, SF IL-17 correlated with number of swollen joints (r = 0. 35; p < 0. 05), number of joints with limited mobility (r = 0. 55; p < 0. 001), and number of tender joints (r = 0. 46; p < 0. 01); however, no correlation was seen with erythrocyte sedimentation rate.

ERA

erythrocyte sedimentation rate


Input: This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

CRYGD

posterior polar cataract


Input: Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing.

UBR1 gene

mild


Input: Transgenic expression of Cd36 in the new lines was associated with significantly decreased serum fatty acids, amelioration of insulin resistance and glucose intolerance but failed to induce any consistent changes in blood pressure as measured by radiotelemetry.

insulin resistance

insulin resistance


Input: Although both splenic weight and cellularity in FVC-infected mice treated with IL-7 were higher than those of normal mice, they were respectively 58% and 66% lower than those of the untreated FVC-infected mice.

weight


Input: K-Ras (K-Ras gene) siRNA transfection of EC9706 esophageal squamous carcinoma cells decreased the expression of K-Ras, MAPK1 and cyclin D1 at the mRNA and protein level.

esophageal


Input: Fifteen single nucleotide polymorphisms within BMP4, FGF3, FGF10, FGFR1 genes were investigated in 138 elite volleyball athletes, aged between 18 and 35 years, who undergo 4-5h of training per day: 52 with tendinopathy and 86 with no history of pain suggestive of tendinopathy in patellar, Achilles, shoulder, and hip abductors tendons.

pain


Input: The results suggest that Japanese subjects bearing at least one A allele of rs2230009 of the WRN gene are at a significantly higher risk of femoral fracture, possibly due to decreased bone density.

WRN gene

bone density


Input: Using the Atlas human cDNA array I, we identified 27 genes (not counting RARbeta itself) that are regulated, directly or indirectly, by RARbeta2 when it is transfected into Calu-1, a lung tumor-derived line that does not normally express RARbeta.

Calu

lung tumor


Input: We found that the apolipoprotein C1 (apo C1) gene was prominently expressed in the atheroma of the carotid and femoral arteries, as compared to the nonatherosclerotic arteries.

apolipoprotein C1

atheroma


Input: In this study, we investigated CA1 hippocampal synaptic plasticity, long-term potentiation (LTP) and depression (LTD) in the Ts1Cje mouse.

depression


Input: These results suggest that highly positive c22-3 samples are likely to be associated with HCV viremia and that infection with less common HCV genotypes is more commonly associated with indeterminate RIBA 2. 0 results.

RIBA

viremia


Input: Levels of GH, IGF-I, and IGFBP-3 were above the 95th percentile in the serum of the 3-year-old girl with a mono-allelic deletion of the IGF1R gene, suggesting IGF-I resistance.

IGF1R gene

mono


Input: They were " early " corresponding to mild and moderate DYS with overexpression of fascin, FADD and CDC25B and underexpression of Fas, caspase 8, CK4 and annexin I, " intermediate " to severe DYS and CIS with overexpression of FADD and CK14, and " late " to invasive lesions (ESCC) and to advanced pTNM stage ESCC lesions with overexpression of CK14, laminin-5gamma2 and SPARC.

mild


Input: Our study suggests that the ADRA1A gene is involved in weight gain among schizophrenia patients treated with antipsychotics.

ADRA1A gene

weight gain


Input: Increased expression of specific ADAR2 variants with diminished catalytic activity was observed in schizophrenia.

schizophrenia

schizophrenia


Input: Low α-KG levels promotes stabilization of hypoxia-induced factor 1a (Hif1a) and secretion of vascular endothelial growth factor A (Vegfa) by starved Vldlr (-/-) photoreceptors, leading to neovascularization.

Vegfa

hypoxia


Input: This study examined the associations and age-specific effects on asthma, atopy and bronchial hyper-responsiveness (BHR) of five candidate genes previously identified by positional cloning (ADAM33, PHF11, NPSR1, DPP10, SPINK5).

atopy


Input: In emerging diabetic retinopathy, MEMRI provided an analytic measure of an ionic dysregulatory pattern that was sensitive to SOD1 overexpression.

diabetic retinopathy

diabetic retinopathy


Input: Overall, our data do not provide strong evidence for impaired prodynorphin or kappa opioid receptor mRNA levels in the dorsolateral prefrontal or cingulate cortices of schizophrenic, bipolar disorder, or major depressed subjects.

prodynorphin

bipolar disorder

prodynorphin

bipolar disorder


Input: CONCLUSIONS: The t (14; 18)/IGH-BCL2 chromosomal translocation occurred frequently in gastrointestinal follicular lymphomas.

chromosomal translocation


Input: This gene product and its relative, FKBP4, physically associate with the glucocorticoid receptor whose function is implicated in MDD pathophysiology.

MDD

MDD


Input: Formalin-fixed, paraffin-embedded tissue from 19 myelolipomas was stained with hematoxylin and eosin and immunostained with monoclonal antibodies against CD138, CD34, CD117, CD42a, hemoglobin, myeloperoxidase, collagen IV, and nerve growth factor receptor.

nerve growth factor receptor

hemoglobin


Input: Survival analysis showed that methylation status of sFRP1, sFRP4, and sFRP5 was associated with worse survival in MDS and sFRP5 methylation also predicted a high risk of leukemia evolution (P = 0. 018).

leukemia


Input: We identified no PTCH1 mutations and two SUFU mutations that cause premature protein truncating in the series of sporadic non-familial medulloblastomas.

SUFU

sporadic


Input: Carrier parents were asymptomatic, suggesting that MFN2 null alleles can be nonpathogenic unless coinherited with another mutation.

asymptomatic


Input: However, the importance of LCN2 in breast tumorigenesis is unclear.

tumorigenesis


Input: No molecular abnormalities were found in the exons of this patient' s AMH gene.

AMH gene

abnormalities


Input: Age, BMI, drinking, and smoking accounted for 52. 1 and 34. 7% of the variation among those with ALDH2 * 1/2 * 2 and ALDH2 * 1/2 * 1, respectively.

smoking


Input: FSS and SHS mutations affect different myosin residues, demonstrating that MYH3 genotype is predictive of phenotype.

SHS

SHS


Input: The increase in VEGF under hypoxic conditions was blocked by the addition of PI3 kinase inhibitors, indicating that the latter pathway is important in the hypoxic stress response.

VEGF

hypoxic


Input: Sox2 cooperates with inflammation-mediated Stat3 activation in the malignant transformation of foregut basal progenitor cells.

inflammation


Input: PCNA labeling index (LI) and the level of PGE2 in bladder papilloma are much higher than those in normal bladder (P < 0. 01), but lower than those in bladder TCC (P < 0. 05).

PCNA

bladder papilloma


Input: We observed that the expression of amphiregulin, betacellulin and epiregulin was significantly increased in young EPP mice when compared to aged-matched controls in all genetic backgrounds.

epiregulin

EPP

epiregulin

EPP


Input: To further understand the role of GPBAR1 in inflammation, we generated a novel, selective, proprietary GPBAR1 agonist and tested its effectiveness at reducing monocyte and macrophage activation in vitro and in vivo.

inflammation


Input: Abcg2-/-mice showed exaggerated cardiac hypertrophy and ventricular remodeling after TAC compared with wild-type mice.

ventricular remodeling


Input: This translocation results in overexpression of bcl-2, which increases cellular life span of the mutated cells by decreasing apoptosis.

translocation


Input: Here, we investigate whether common genetic variation in this pathway influences insulin-like growth factor-I (IGF-I) levels and mammographic density.

IGF-I

mammographic density


Input: Coupled with the identification of further ATR-deficient patients, our findings allow a spectrum of clinical features that can be ascribed to the ATR-ATRIP deficient sub-class of Seckel Syndrome.

ATRIP

Seckel Syndrome

ATRIP

Seckel Syndrome


Input: Fanconi anemia (FA) is a rare disorder characterized by physical abnormalities, bone marrow failure (BMF), increased risk of malignancies, and cellular hypersensitivity to DNA cross-linking agents.

BMF

hypersensitivity


Input: An analysis of three separate human data sets revealed a gene wide association between variation in FBXL3 and bipolar disorder (P = 0. 009).

bipolar disorder

bipolar disorder


Input: We initiated studies in Burkitt lymphoma cells, which constitutively express c-MYC due to a chromosomal translocation, to determine whether Hedgehog or c-MYC regulates GLI1 expression.

chromosomal translocation


Input: Immunohistochemical staining for DOG-1, C-Kit (CD117) and protein kinase C theta (PKCθ) was performed on FNA cell-block preparations representing 30 GISTs, 17 leiomyosarcomas, 16 melanomas, 16 schwannomas, 11 adenoid cystic carcinomas, and 8 leiomyomas.

protein kinase C theta

schwannomas


Input: This study provides evidence for HOTAIR to promote tumorigenesis via downregulating SETD2 in liver cancer stem cells.

tumorigenesis


Input: These findings show that homozygous mutations at p. R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis.

multiple symmetrical lipomatosis

multiple symmetrical lipomatosis


Input: CCNY was significantly upregulated in OC cell lines and tissues (both P < 0. 05); significant association was observed between CCNY expression and clinicopathological stage, lymph node metastasis (LNM) (P < 0. 05); and the CCNY expression in stages III to IV was higher than that in stages I to II, and patients with LNM had higher CCNY expression when compared with those in patients without LNM (P < 0. 05); expressions of c-Myc, cyclin D, PFTK1, ki67, and OGT were upregulated in OC tissues compared with ovarian benign tissues, suggesting that these expressions were significantly different between the two groups (P < 0. 05); CCNY significantly exacerbated proliferation, migration, and invasion of A2780 cells; c-Myc and cyclin D1 protein expressions increased as the expression of CCNY increased (P < 0. 001); β-catenin expressions in A2780 cells with over-expression of CCNY were significantly increased in the nucleus, but significantly decreased in the cytoplasm (both P < 0. 05); high expressions of CCNY exacerbated the proliferation of A2780 cells in nude mice and significantly increased c-Myc, cyclin D1, PFTK1, ki67, and OGT protein expressions in tumor tissues which were transplanted into nude mice (P < 0. 01).

OGT

lymph node metastasis


Input: BACKGROUND: p63, homologous to p53, has been investigated to be involved in various aspects of tumorigenesis and cancer progression.

tumorigenesis


Input: Our recent study showed reduced G protein γ2 subunit (Gng2/GNG2) expression levels in malignant melanoma cells compared with those in benign melanocytic cells in both mice and humans.

malignant melanoma


Input: Our in vitro data also indicate that insulin/IRS-1/PI3K signaling is required for ACE2 expression in cardiomyocytes, and that hypoxia can enhance the induction effect of insulin/IRS-1/PI3K signaling on ACE2 expression in cardiomyocytes.

hypoxia


Input: ADAM (a disintegrin and metalloprotease) 12 and ADAM17 are multidomain transmembrane proteins involved in ectodomain shedding of cytokines, growth factors and adhesion molecules, with pivotal activities in the tumor microenvironment.

adhesion


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.

hematoma

hematoma


Input: We found an increase in endogenous cardiac SOCS3, p-STAT3 and AC-RelA activation in the myocardium of infants with cyanotic cardiac defects.

cardiac defects


Input: Our results demonstrate the therapeutic potential of specific-oncolysis and suicide gene therapy for AI-PSA/PSMA-positive prostate cancer gene therapy.

PSA

oncolysis


Input: We present, to our best knowledge, the first case of warfarin skin necrosis associated with a methylenetetrahydrofolate reductase mutation.

methylenetetrahydrofolate reductase

necrosis

methylenetetrahydrofolate reductase

necrosis


Input: Increased levels of TRAF1, TRAF2, and TANK/I-TRAF were expressed in astrocytomas compared with levels in normal brain tissue (p = 0. 02, 0. 006, and 0. 01, respectively).

astrocytomas


Input: In contrast, in patients with SZ, the distributions of 5A5A genotype and 5A allele of MMP3 gene were significantly increased as compared with healthy controls.

SZ

SZ


Input: The correlation between COMT gene polymorphism and early cerebral vasospasm after subarachnoid hemorrhage.

COMT gene

subarachnoid hemorrhage


Input: Treatment with LDL promoted activation and translocation of endogenous sphingosine kinase 1 (SK1) from the cytosol to the plasma membrane concomitant with production of sphingosine-1-phosphate (S1P).

sphingosine kinase 1

translocation


Input: PCLO rs13438494 exhibits a relationship with the symptoms of drug dependence or related parameters, such as the age of first exposure to methamphetamine, eating disorders, tobacco dependence and fentanyl requirement.

PCLO

drug dependence


Input: When GP5 +/GP6 + was used, the sensitivity increased to 89% with cold-start PCR and to 95% with hot-start PCR.

cold


Input: The expression of AGER isoforms is different in atheroma from patients with recent symptoms.

AGER

atheroma


Input: This study investigated genes involved in the regulation of neuroplasticity (BDNF, ST8SIA2), second messenger cascades (GSK3B, MAPK1, and CREB1), circadian rhythms (RORA), transcription (SP4, ZNF804A), and monoaminergic system (HTR2A and COMT) in the risk of neurological, psychic, autonomic, and other ADRs.

circadian rhythms


Input: We report the modulating action of the L436F new polymorphism identified in the GLB1 gene of a patient affected by GM1 gangliosidosis with onset at 17 months and rapidly progressive psychomotor deterioration.

GLB1 gene

rapidly progressive


Input: In addition, LGA appears to be a risk factor for allergic asthma and for general atopy in later life.

LGA

atopy


Input: Despite the low incidence of microsatellite instability (MSI) in lymphoid malignant neoplasms, it has been reported that the CD5 promoter MSI was relatively frequent among B-cell chronic lymphoproliferative disorders.

microsatellite instability


Input: The results show that sema3A is elevated in schizophrenia, and is associated with downregulation of genes involved in synaptic formation and maintenance.

schizophrenia

schizophrenia


Input: Translated products of AOGs showed differential expression in the liver of hyperthyroid rats, where Cu/Zn SOD (SOD1), CAT and GR were decreased in contrast to Mn SOD (SOD2) and GPx1.

GR

hyperthyroid

GR

hyperthyroid


Input: Immunohistochemical staining confirmed the increased expression of CST1 in the nasal epithelial cells of SAR patients.

SAR

SAR


Input: Furthermore, we found that the tongue tumor with high metastasis capability showed higher ILK, Vimentin, Snail, Slug and Twist as well as lower E-cadherin expression in clinical specimens.

E-cadherin

tongue tumor


Input: Intracellular amyloid precursor protein sorting and amyloid-β secretion are regulated by Src-mediated phosphorylation of Mint2.

amyloid


Input: Exclusion of APC and VHL gene deletions by array-based comparative hybridization in two patients with microscopically visible chromosomal aberrations.

VHL gene

chromosomal aberrations


Input: Because inactivating somatic mutation is the hallmark of an authentic tumor suppressor, Smad3 is unlikely to function as a classical tumor suppressor gene in the pathogenesis of sporadic parathyroid or enteropancreatic endocrine tumors.

somatic mutation


Input: Strategies to activate SIRT1 or FGF21 could be used to treat fatty liver disease and obesity.

obesity

obesity


Input: Importantly, downregulating SIRT1 with shRNA inhibited the migration ability of osteosarcoma cells in vitro and suppressed tumour lung metastasis in mice.

metastasis

metastasis


Input: Significant higher concentrations (P < 0. 05) of IL-6 in the mild and severe oligospermic group, IL-8 and IL-10 in the asthenospermic group and IL-6, IL-10, TNF-alpha and IFN-gamma in the obstructed azoospermic group were determined.

mild


Input: Genetic analyses have revealed an association between the gene encoding the Rab3A-interacting molecule (RIM1) and the autosomal dominant cone-rod dystrophy CORD7.

cone-rod dystrophy


Input: These observations suggest that p63 genomic amplification has an early role in lung tumorigenesis and deserves additional evaluation as a biomarker for lung cancer progression.

tumorigenesis


Input: In an independent cohort of epidemiologically linked transmission pairs, the presence of these substitutions in viruses encoding T (242) N was associated with significantly higher plasma viremia in donors, further suggesting that these secondary mutations compensated for the replication defect of T (242) N. Using NL4-3 constructs, we illustrate the ability of these CypA loop changes to partially restore replication of the T (242) N variant in vitro.

viremia


Input: Additional 14 spindle cell (from 8 children and 6 adults) and 4 sclerosing (from 2 children and 2 adults) RMS were tested by FISH for the presence of abnormalities in NCOA2, SRF, as well as for PAX3 and NCOA1.

abnormalities


Input: Thus, we evaluated the association of 11 targeted IGF pathway SNPs with circulating IGF levels and mammographic breast density.

IGF

mammographic breast density


Input: Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

sterol 27-hydroxylase

cerebrotendinous xanthomatosis

sterol 27-hydroxylase

cerebrotendinous xanthomatosis


Input: IL-6 > 5. 8 ng/L and CRP > 2. 6 mg/L were associated with a 4. 5-fold increase in the odds of having complex coronary plaque (P < 0. 005).

plaque


Input: HGF decreased the expression of E-cadherin and induced the translocation of E-cadherin to the cytoplasm.

E-cadherin

translocation


Input: TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors.

nervous system tumors


Input: We examined the association between post-stroke depression (PSD) and polymorphism in HTR2C.

PSD

stroke


Input: In the clinical material from North Western Russia, factor V Leiden was found to be a risk factor in venous thrombosis (OR = 3. 6), while the methylenetetrahydrofolate reductase (MTHFR) C677T mutation was a significant variable in both venous (p = 0. 03) and arterial thrombosis (p = 0. 004).

factor V Leiden

arterial thrombosis


Input: Upregulation of keratinocyte growth factor in cyclosporin A-induced gingival overgrowth.

keratinocyte growth factor

gingival overgrowth


Input: This is the first case report of ALDH18A1-related CL with cyclic vomiting associated with amino acid abnormalities.

abnormalities


Input: Pericentromeric inversion of chromosome 11 that results in activation of the P: RAD1/cyclin D1 gene and tumor suppressor gene loss have been described as genetic abnormalities in the evolution of parathyroid neoplasms.

parathyroid neoplasms


Input: Junctional CD8 + cutaneous lymphomas with nonaggressive clinical behavior: a CD8 + variant of mycosis fungoides?

mycosis fungoides


Input: Our findings suggest that PPAR-gamma may be a key regulator of blood-brain barrier permeability and a potential therapeutic target during hypertension.

PPAR-gamma

hypertension

PPAR-gamma

hypertension


Input: We recently identified the FIP1L1-PDGFRA fusion gene in approx 50% of HES/CEL cases.

PDGFRA

CEL

PDGFRA

CEL


Input: Screening using an siRNA library revealed that MAPKKK6 (MEKK6/MAP3K6) regulates VEGF expression under both normoxic and hypoxic conditions in vitro, although the biological function of MAP3K6 remains unknown.

VEGF

hypoxic


Input: In primary prostate cancer and bone metastasis, PAR-1 is upregulated in reactive stroma and PAR-2 is uniformly overexpressed in carcinoma cells, suggesting these receptors may play potentially different roles in prostate cancer development and metastasis.

PAR

metastasis


Input: By using complementary in vitro and ex vivo approaches, we show that the risk allele (Y153H) of the pre-eclampsia susceptibility gene STOX1 negatively regulates trophoblast invasion by upregulation of the cell-cell adhesion protein alpha-T-catenin (CTNNA3).

pre-eclampsia


Input: We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE.

pituitary hormone deficiency


Input: We hypothesized that Cx26, Cx32, or Cx43 would display differential growth suppression of C6 glioma cells and uniquely modulate the bystander effect following transduction of C6 cells with HSVtk followed by suicide gene therapy.

glioma


Input: It is considered that BCL2 translocation precedes MYC events in lymphomagenesis of DHL.

translocation


Input: In this study, we show that thymidine phosphorylase activity also augments levels of the hypoxia-inducible factor-1alpha during in vitro hypoxia, and that thymidine phosphorylase activity and hypoxia act in concert to increase vascular endothelial growth factor (VEGF) secretion.

VEGF

hypoxia


Input: The role of FoxP3 + CD4 + CD25hi Tregs in the pathogenesis of myasthenia gravis.

myasthenia gravis


Input: Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.

decorin

Congenital stromal dystrophy of the cornea

decorin

Congenital stromal dystrophy of the cornea


Input: The only major Ras effector pathway not explored for its role in melanoma is the RalGEF-Ral pathway, in which Ras activation of RalGEFs converts the small GTPases RalA and RalB to an active guanosine triphosphate-bound state.

RalA

melanoma


Input: This study implies an essential role for PLCB3 in the neuroendocrine tumorigenesis.

tumorigenesis


Input: This study aimed to examine whether MRI surveillance, and particularly recall, is associated with increased anxiety, depression, or breast cancer worry/distress.

MRI

breast cancer


Input: Moreover, we provide evidence that CDK inhibitors induce the translocation of YAP from the nucleus to the cytoplasm, resulting in a decrease in its activity.

YAP

translocation


Input: An increased binomial regression risk ratio = 2. 5, 95% confidence interval (CI) 1. 5-4. 2, of the GSTM1 null genotype for CTE was found in smokers and for the GSTT1 null genotype (binomial regression risk ratio 1. 5, 95% CI 1. 0-2. 0).

regression


Input: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

Senataxin

ataxia-ocular apraxia 2

Senataxin

ataxia-ocular apraxia 2


Input: We report that the primary growth of this tumor in the footpad and its metastasis to lung are correlated with the development of increased numbers of suppressor cells, characterized by the expression of a surface histamine H2 receptor.

histamine H2 receptor

metastasis

histamine H2 receptor

metastasis


Input: We demonstrate that NAC down-regulates the expression of IGF-1R on three colorectal adenocarcinoma cell lines (HT29, SW480, and LoVo).

NAC

colorectal adenocarcinoma


Input: Whether surveillance regimens that include MRI will reduce mortality from breast cancer in high-risk women requires further investigation.

MRI

breast cancer


Input: We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations.

ALS

ALS


Input: The frequency of germ line p53 mutations can now be examined in additional families with LFS, and in other cancer patients and families with clinical features that might be attributed to the mutation.

LFS

LFS


Input: Furthermore, 13, 14-dihydro-15-keto-PGD2, a specific DP2 agonist not only increases eosinophil recruitment at inflammatory sites but also the pathology in two in vivo models of allergic inflammation: atopic dermatitis and allergic asthma.

allergic asthma


Input: The risk for cancer multiplicity was associated with inactive heterozygous ALDH2 alone (OR = 4. 22) among the risk factors investigated, which also included smoking, less-active alcohol dehydrogenase-1B, and macrocytosis, enhancing the validity of the link between acetaldehyde exposure and cancer multiplicity.

smoking


Input: Our results indicate that MBD3 is not a major target of genetic and epigenetic alteration in these cancers.

cancers


Input: EPO was not produced in significant amounts by RPE cells under hypoxic conditions, suggesting that other cells and/or transcription factors in the retina are responsible for its production.

RPE

hypoxic


Input: Low EGFR and high p16 (or higher HPV titer) expression are markers of good response to organ-sparing therapy and outcome, whereas high EGFR expression, combined low p53/high Bcl-xL expression, female sex, and smoking are associated with a poor outcome.

EGFR

smoking


Input: There was no correlation between the growth fraction and the severity of epithelial dysplasia found is OSF.

OSF

epithelial dysplasia


Input: Quantitative RT-PCR demonstrated that six genes from the combined signatures (CXCL9, ITSN2, GNAI2, H2AFX, INDO, and MGC10986) were significantly differentially expressed in the recurrence versus the non-recurrence group of the 19 cases and the independent breast cancer patient cohort (n = 51) treated with CMF.

breast cancer

breast cancer


Input: Using the MTT assay and cell counting, we demonstrated that treatment of PMA/Io significantly inhibited the proliferation of glioma cell lines, U87 and U251.

glioma


Input: This novel DC-SIGN-T (H) 2 pathway initiated by an endogenous ligand, sFc, provides an intrinsic mechanism for maintaining immune homeostasis that could be manipulated to provide therapeutic benefit in autoimmune diseases.

DC-SIGN

autoimmune diseases


Input: Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.

beta-glucuronidase

mucopolysaccharidosis type VII

beta-glucuronidase

mucopolysaccharidosis type VII


Input: However, biochemical analysis revealed a reduction in citrate synthase-corrected complex I and complex II/III activities in muscle and complex I activity in mitochondrial-enriched fractions from cultured myoblasts, suggesting that either a primary or a secondary defect of respiratory chain function may play an important role in the pathogenesis of the disease.

citrate synthase

secondary


Input: RNA interference targeting the DRBP76/NF90 isoform limited hypoxia-inducible VEGF mRNA and protein expression with no change in HIF-1-dependent transcriptional activity.

VEGF

hypoxia


Input: Our results suggest that VEGF may not be produced in sufficient amounts in chronically hypoxic ALS patients and that this dysfunction may participate in the pathogenesis of the disease.

VEGF

hypoxic


Input: Treatment with a differentiation modulating agent 5-bromodeoxyuridine (BrdU) led to restoration of HOP expression in a small cell lung cancer cell line H526.

HOP

small cell lung cancer


Input: Lung injury and inflammation were assessed and pulmonary and hepatic CYP1A1 and CYP1A2 levels were quantified at the enzyme activity, protein and mRNA level.

Lung injury

Lung injury


Input: Novel Compound Heterozygous Mutations in the Cathepsin K Gene in Japanese Female Siblings with Pyknodysostosis.

Cathepsin K

Pyknodysostosis

Cathepsin K

Pyknodysostosis


Input: The particular risk factors were analyzed and 6 single nucleotide polymorphisms of diabetic predisposing genes: PAX4 and TCF7L2 were genotyped to evaluate the association between these factors and beta-cell function/insulin sensitivity.

insulin sensitivity


Input: B27-bearing HLA haplotypes in rheumatoid arthritis: characterization in Finnish patients.

rheumatoid arthritis


Input: Overall, our findings implicate the neuronal leucine-rich genes LRRN3 and LRRTM3 in ASD susceptibility.

ASD

ASD


Input: In addition, the demonstration of gonadal mosaicism in the FBN2 gene is important for accurate genetic counseling of families with sporadic cases of CCA.

FBN2 gene

sporadic


Input: In this study, we demonstrated that: (1) Hypoxia, a typical feature of malignant tumor, enhanced the expression of MUC1 mRNA and protein in a human lung adenocarcinoma cell line; (2) the hypoxia-induced increase in MUC1 mRNA was mediated by the transcriptional activity of MUC1 promoter, but not mRNA stability.

hypoxia


Input: The first group (35 of 57 cases; 61%) had both the CSF1 translocation and high expression of CSF1 RNA, confirming our previous findings.

translocation


Input: We used ribonuclease protection assays to quantify mRNA levels of neuregulin, erbB2, and erbB4 in left ventricular (LV) tissue and myocytes of normal rats and rats with aortic stenosis with pressure-overload hypertrophy 6 and 22 weeks after banding.

hypertrophy


Input: Protein deficiency in normal rats resulted in a significant increase in hepatic activities of catalase, glutathione peroxidase, glutathione reductase, and glutathione-S-transferase and the levels of lipid peroxidation.

catalase

Protein deficiency

catalase

Protein deficiency


Input: To evaluate the anti-tumor potential of beta-lapachone in multiple myeloma (MM) cell lines (U266, RPMI8226, and MM. 1S); MM cell lines resistant to dexamethasone (MM. 1R), melphalan (RPMI8226/LR5), doxorubicin (RPMI8226/DOX40), and mitoxantrone (RPMI8226/MR20); and MM cells from patients (MM1-MM4).

myeloma


Input: Antenatal inflammation induced TGF-beta1 but suppressed CTGF in preterm lungs.

CTGF

inflammation


Input: Guided by cDNA microarray analysis of human microvascular endothelial cells (HMEC-1 line) subjected to hypoxia (pO (2) 20 torr, 8 h), we identified adrenomedullin (ADM) as a prominent hypoxia-inducible factor (HIF) that acts on epithelial cells through cell surface receptors.

ADM

hypoxia


Input: IQCB1 mutations in patients with leber congenital amaurosis.

leber congenital amaurosis

leber congenital amaurosis


Input: One with novel DOCK8 deletion had notable cytomegalovirus retinitis, cerebral vasculitis, lead deposition, and amenorrhea.

amenorrhea


Input: These data comprise the first report to provide the role of Akt/tuberin/mTORC1/2 in the regulation of N-cadherin and vimentin that are involved in the progression of fibrosis in kidney tumor of TSC patients.

N-cadherin

fibrosis


Input: Mice lacking RGS6 exhibit abnormal gait and ataxia characterized by impaired rotarod performance improved by treatment with a GABA (B) R antagonist.

abnormal gait


Input: Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

apolipoprotein B

familial defective apolipoprotein B-100

apolipoprotein B

familial defective apolipoprotein B-100


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.

inflammation

inflammation


Input: Inflammatory HCA occurred more frequently in patients with high body mass index; they can be also mutated for beta-catenin and therefore are probably at risk of HCC.

beta-catenin

body mass index


Input: Analysis of filtered gene expression data using Ingenuity Pathways Analysis (Ingenuity Systems, http://www. ingenuity. com) revealed that a number of genes pertaining to neuronal plasticity (RhoA, Rac1, Cdc42, BDNF, and Trk), neurodegeneration (Caspase3, Calpain 1, Bax, a Cytochrome c, and Smac/Diablo), and inflammation/immune-response pathways (TNF-alpha, CCL2, Cox2) were modulated in a temporal fashion after KA treatment.

neurodegeneration


Input: The genes MUT (methylmalonyl coenzyme A-mutase), RDS (retinal degeneration, slow), CSNK2 beta (casein kinase II, beta subunit), and GSTA1 (glutathione S-transferase alpha, type 1) were excluded as PKHD1 genes using both established and novel intragenic polymorphisms in families with key recombinants.

MUT

retinal degeneration


Input: Our results show that both insulin sensitivity, as measured from levels of fasting glucose and insulin, and central adiposity, estimated by subscapular skinfold thickness, were significantly associated to genetic variability in TFAP2B.

insulin sensitivity


Input: Immunotherapeutic approaches to the treatment of advanced melanoma have relied on strategies that augment the responsiveness of endogenous tumor-specific T-cell populations [eg, cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) blockade-mediated checkpoint inhibition] or introduce exogenously prepared tumor-specific T-cell populations [eg, adoptive cell transfer (ACT)].

ACT

advanced melanoma


Input: In parallel, quantitative RT-PCR showed BCRP mRNA downregulation in human adenomas (to 17 & #177; 31%).

BCRP

adenomas

BCRP

adenomas


Input: It is associated with the chromosomal translocation, t (17: 22), which fuses the COL1A1 and PDGFbeta genes.

chromosomal translocation


Input: Here, we report for the first time that the expression of the mitochondrial regulators PGC1α and TFAM varies between EOC subtypes; furthermore, we have identified a profile in clear-cell carcinoma consisting of undetectability of PGC1α/TFAM, and low ERα/Ki-67.

TFAM

carcinoma


Input: Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins.

body weight


Input: Mice lacking functional p47phox, a subunit of NADPH oxidase, had reduced dihydroethidium fluorescence and choroidal neovascularization compared with wild-type controls.

choroidal neovascularization


Input: We suggest that cycles of alcohol intoxication/withdrawal, which may initially activate NF-kappaB, when repeated over years downregulate RELA expression and NF-kappaB and p50 homodimer DNA-binding.

RELA

alcohol intoxication

RELA

alcohol intoxication


Input: It was found that Vitamin A, retinoid acid and a few other immune response agents modulated by RARA and LCK genes may be potential treatments for both schizophrenia and hepatocellular carcinoma.

RARA

schizophrenia

RARA

schizophrenia


Input: Nell-1 overexpression induced calvarial overgrowth and resulted in premature suture closure in a rodent model.

premature suture closure

premature suture closure


Input: The systemic antimetastatic effect of IL-2 contrasted with the negligible effect of IL-2 on the s. c. MK16 tumour inoculum.

tumour

tumour


Input: Several important traits that mediate malignancy were altered by IFIT3: increased VEGF and IL-6 secretion, chemoresistance and decreased starvation-induced apoptosis.

VEGF

starvation


Input: Naïve patients with mild fibrosis and the IL28B CC polymorphism and/or with a rapid virological response (RVR) to DT can still benefit from DT, while TT is preferable in all others.

mild


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: We observed significant interaction between 5 SNPs and smoking on AHR, and 3 interacted with smoking in relation to asthma with AHR (rs4795404, rs4795408, rs3859192).

AHR

smoking


Input: sEphB4-HSA reduced blood vessel density, pericyte recruitment, vessel perfusion, and increased hypoxia, with an associated increase in VEGF and DLL4 expression.

VEGF

hypoxia


Input: The heparan sulfate proteoglycan glypican-1 is essential as a co-receptor for heparin binding growth factors, such as HB-EGF and FGF-2, in pancreatic cancer cells.

heparan sulfate proteoglycan

pancreatic cancer


Input: In females, the average body weight was 13. 6 kg more (95% CI, 1. 11-26. 1) in the LEPR 223QQ group compared with the LEPR 223RR group.

LEPR

body weight


Input: These findings suggest that, in bronchial epithelial cells, CSE promote a prevalent induction of pro-inflammatory BLT2 receptors and activate mechanisms leading to increased neutrophil adhesion, a mechanism that contributes to airway neutrophilia and to tissue damage.

adhesion


Input: Patient genotypes for CYP2B6 (* 6 & * 11), CYP3A5 (* 3, * 6 & * 7) and ABCB1 c. 4046A > G, baseline biochemistries and CD4 and viral load change from baseline were determined.

viral load


Input: Together with the previous report describing three cases of non-NBCCS medulloblastoma carrying a germline mutation in this gene, individuals with a SUFU germline mutation are expected to have a markedly high risk of developing medulloblastoma and probably meningioma.

SUFU

NBCCS

SUFU

NBCCS


Input: Several recent studies have reported an association between the serotonin transporter 5HTTLPR (s-allele) and aggression; however, non-replications have also been reported.

serotonin transporter

aggression


Input: Additionally, the expression of septin 7 and OPA1, proteins downstream of truncated p35, is decreased in schizophrenia.

schizophrenia

schizophrenia


Input: An enzyme immunoassay showed that the VEGF concentration in corpus callosum was significantly higher up to 7 days after hypoxic exposure.

VEGF

hypoxic


Input: We further correlated HDAC levels with clinical features in PMF: there was no correlation with WBC, platelet counts, Hb levels or degree of bone marrow fibrosis, but HDAC levels were correlated to the degree of splenomegaly.

HDAC

splenomegaly


Input: While mutations in Cx43 are mostly linked to oculodentodigital dysplasia, Cx47 mutations are associated with Pelizaeus-Merzbacher-like disease and lymphoedema.

lymphoedema


Input: Within the bupropion group, subgroup analyses with stratification by genotype demonstrated that craving, irritability, and anxiety were significantly attenuated only among subjects with DRD2-Taq1 A2/A2 genotypes.

irritability


Input: In view of the hypothesis that NKG2C could be directly involved in NK cell maturation driven by HCMV infection, we analyzed the maturation and function of NK cells developing in three patients with hematological malignancies given umbilical cord blood transplantation from donors carrying a homozygous deletion of the NKG2C gene.

hematological malignancies


Input: PDGFR-& #946; promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM.

PDGFR

IM

PDGFR

IM


Input: In this study, a MIR emitter with emission wavelength band in the 3-5 µm region was developed to irradiate A549 lung adenocarcinoma cells.

MIR

lung adenocarcinoma


Input: Quantitatively, the rate of elastin synthesis in desmoid tumor cells monitored by valine-proline peptide was also significantly higher than in HSF.

HSF

desmoid tumor


Input: We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1, and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer' s or dementia.

LOAD

LOAD


Input: However, the clinical course of the patient was mild, and he responded to Cu-His treatment, which suggests that this mutation leads to partial conservation of the activity of ATP7A.

mild


Input: This study was to detect 12 BCL3-PVRL2-TOMM40 SNPs, gene-gene and gene-environment interactions on dyslipidemia in the Chinese Maonan population.

dyslipidemia

dyslipidemia


Input: mRNA levels of 10 BCAR genes (AKT1, AKT2, BCAR1, BCAR3, EGFR, ERBB2, GRB7, SRC, TLE3, and TRERF1) were measured in estrogen receptor-positive breast tumors using quantitative reverse-transcriptase polymerase chain reaction.

breast tumors

breast tumors


Input: In a recent study, Thapar and colleagues reported that COMT " gene variant and birth weight predict early-onset antisocial behavior in children " with attention-deficit/hyperactivity disorder.

COMT

birth weight


Input: We report a new class of molecular lesions in the 5' region of the BCL2 protooncogene when it undergoes a t (14; 18) translocation-associated rearrangement in the major break cluster (MBR) or minor break cluster (MCR) regions.

translocation


Input: In this study, we show that EGFR gene status and smoking are predict the efficacy of treatment with microtubule inhibitors in NSCLC.

EGFR gene

smoking


Input: Our data reveals a novel mechanism by which the interactions of HMGB1 and mtDNA activate TLR9 signaling during hypoxia to induce tumor growth.

hypoxia


Input: In contrast to the 25% frequency reported for other regions the low risk molecular subtype characterized by the TEL/AML1 translocation represented a comparatively smaller fraction (4/46) in this study.

translocation


Input: Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD).

UTR

attention deficit hyperactivity disorder


Input: Together, these findings demonstrate that hypoxic induction of Ero1-L alpha is the key adaptive response in a previously unrecognized HIF-1-mediated pathway that operates to improve protein secretion under hypoxia and might be harnessed for inhibiting tumor growth via inhibiting VEGF-driven angiogenesis.

VEGF

hypoxia


Input: Association study of adrenergic beta3 receptor (Trp64Arg) and G-protein beta3 subunit gene (C825T) polymorphisms and weight change during clozapine treatment.

weight change


Input: These include the Patatin-like phosholipase domain-containing 3 (PNPLA3) gene variant I148M as a major determinant of inter-individual and ethnicity-related differences in hepatic fat content independent of insulin resistance and serum lipid concentration.

insulin resistance


Input: In contrast, hyperthyroid patients presented increased clonogenic growth and BFU-E number and significantly higher expressions of cell cycle-regulating genes such as those for PCNA and cyclin D1.

cyclin D1

hyperthyroid


Input: Reduction of TAF12 levels by small interfering RNA treatment induced a destabilization of the TFIID complex, enhanced E-cadherin mRNA and protein levels, and reduced migration and adhesion properties of RAS-transformed cells with epithelial to mesenchymal transition.

adhesion


Input: Post-heparin TFPI activity levels were significantly lower in the group of patients with venous thrombosis than in controls (mean +/-SD: 230% +/-39 vs 260% +/-34, p = 0. 0002), whereas there was no difference for patients with arterial thrombosis.

TFPI

arterial thrombosis


Input: Targeted somatic mutation of the BCL6 proto-oncogene and its impact on lymphomagenesis.

somatic mutation


Input: The results of the study suggest that Rac1 GTPase has a critical role in mediating ischemia/reperfusion injury-induced NADPH oxidase activation, ROS generation and oxidative stress in the hippocampal CA1 region of the rat, and thus contributes significantly to neuronal degeneration and cognitive dysfunction following cerebral ischemia.

ischemia


Input: The AML1 gene was identified in 1991 by cloning the t (8; 21) chromosome translocation associated with FAB M2 acute myeloid leukemia (AML).

chromosome translocation


Input: FAK, p38, c-Src and ERK1/2 phosphorylation were assessed by Western blot in adherent cells and in cells prevented from adhesion by plating unto BSA-pacificated dishes.

adhesion


Input: A novel p. G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.

pulverulent cataract

pulverulent cataract


Input: Similarly, CMS-9 augmented adaphostin toxicity in human leukaemia K562 cells via increased mitochondrial alterations.

CMS

leukaemia


Input: This work provides significant implications for the Pax4 gene as one of the predisposing genes for type 2 diabetes in the Japanese.

type 2 diabetes

type 2 diabetes


Input: We recently reported depression-like behavior in the forced swimming test in PACAP deficient mice.

PACAP

depression

PACAP

depression


Input: Over 50 human PAX3 mutations that lead to hearing, craniofacial, limb, and pigmentation anomalies have been identified.

pigmentation


Input: In addition, we discovered novel genetic variants, which could explain the testicular dysgenesis observed in the patient, a maternally inherited 167-kb duplication of DAAM2 and MOCS1 genes and a de novo LRRC33/NRROS gene mutation.

NRROS gene

testicular dysgenesis


Input: In addition, we investigated the influence of CCK gene polymorphism on alcohol consumption among the control subjects but found no significant relationship.

CCK gene

alcohol consumption


Input: Clinical features include seizures, psychomotor deterioration, and blindness, the ages and order of onset of which differ for each NCL type.

NCL

seizures


Input: In addition, MR activation attenuates the expression of the VEGF receptor 2/KDR, possibly dampening the activation of a VEGFA/KDR dependent signaling pathway important for the survival of tumor cells under hypoxic conditions.

VEGFA

hypoxic


Input: In ERA, SF IL-17 correlated with number of swollen joints (r = 0. 35; p < 0. 05), number of joints with limited mobility (r = 0. 55; p < 0. 001), and number of tender joints (r = 0. 46; p < 0. 01); however, no correlation was seen with erythrocyte sedimentation rate.

swollen joints


Input: These observations imply that mutations in the death domains of FAS, FADD, TNFR, TRADD, and RIP and in the protease domain of caspase 10 are not a major cause for failure of apoptosis in hematological malignancies, mainly CML and CLL.

FADD

hematological malignancies


Input: In dermatomyositis, HIF-1alpha and HIF-1beta were found in endothelial cells, whereas HIF-2alpha, erythropoietin-receptor, VEGF and VEGF-R additionally were observed in muscle fibers.

dermatomyositis


Input: Apigenin inhibits HIF-1α, GLUT-1, and VEGF mRNA and protein expression in pancreatic cancer cells in both normoxic and hypoxic conditions.

VEGF

hypoxic


Input: Overall, our data suggest that miR-137 regulates growth of glioma cells and targets CSE1L, providing further understanding in the tumorigenesis of gliomas.

gliomas


Input: Cross-sectional studies show that all four parameters correlate with body size: RMR vs. fat-free mass (FFM), r = 0. 87, P < 0. 0001; energy cost of SPA vs. weight, r = 0. 69, P < 0. 001; RQ vs. body fat, r =-0. 23, P < 0. 05; IS vs. weight, r =-0. 38, P < 0. 001.

SPA

weight


Input: While Pds5A (-/-) and Pds5B (-/-) mice die at birth, embryos harboring 3 mutant Pds5 alleles die between E11. 5 and E12. 5 most likely of heart failure, indicating that total Pds5 gene dosage is critical for normal development.

heart failure


Input: Human glioma cell lines (U251, U87, LN229 and A172) were transfected with miR-451 mimics to restore miR-451 expression.

glioma


Input: Of the 13 cases that were Bcl-2 negative with alternative antibodies, 12 lacked the t (14; 18) translocation.

translocation


Input: The effects of VIP microinjected unilaterally (left or right) into the hippocampal CA1 area at a dose of 10 and 100 ng or bilaterally (10 ng), on nociception of male Wistar rats with a model of depression (bilateral olfactory bulbectomy-OBX) were studied.

depression


Input: New significantly mutated genes included PPP3CA, DOT1L, and FTSJD1 in lung ADC, RASA1 in lung SqCC, and KLF5, EP300, and CREBBP in both tumor types.

ADC

ADC


Input: In an effort to resolve this difference, the present study examined noncultured melanocytic lesions (i. e., 5 benign nevi, 10 dysplastic nevi, and 8 primary melanomas: 4 in situ and 4 invasive) for point mutations at codon 12 in the first exon of the Ki-ras proto-oncogene using polymerase chain reaction methodology with oligonucleotide hybridization and direct DNA sequencing.

Ki-ras

dysplastic nevi


Input: Transthyretin (TTR) is a human disease-associated amyloidogenic protein that has been implicated in senile systemic amyloidosis (SSA) and familial amyloidotic polyneuropathy (FAP).

SSA

polyneuropathy


Input: C57BL/6J mice transplanted with RasGRP4-transduced primary bone marrow cells died of T cell leukemia, myeloid leukemia, or myeloid leukemia with T cell leukemia.

myeloid leukemia


Input: Thus, the Wolfram syndrome in patients investigated here is caused by reduced protein dosage rather than dysfunction of the mutant wolframin.

wolframin

Wolfram syndrome

wolframin

Wolfram syndrome


Input: Notably, the chemokine RANTES measured the highest serum level showing an increased gradient of concentration from healthy subjects to Asb-workers and MM patients (p & lt; 0. 001), independently of SV40 infection.

RANTES

MM

RANTES

MM


Input: We also evaluated the gene expression of CD34, a measure of microvessel density (MVD), as well as CD68, MMP-9, and cathepsin K, genes of major importance in plaque vulnerability.

cathepsin K

plaque


Input: Interestingly, Western blotting and immunohistochemistry revealed that aromatase protein concentrations in the GDM placentae were significantly reduced without a change in mRNA levels.

aromatase

GDM

aromatase

GDM


Input: Perinatal abnormalities, including nuchal translucency, fetal hydrops, pleural effusion, or chylothorax and congenital heart defects, are observed in all RIT1 mutation-positive patients.

fetal hydrops


Input: Our findings suggest that microsatellite instability may not be associated with frameshift mutations in the MBD4 gene, and that the MBD4 codon 346 polymorphism may play arole in colorectal cancer susceptibility in the Korean population.

microsatellite instability


Input: The (12; 21) translocation resulting in TEL/AML1 gene fusion is present in about 25% of childhood precursor B-lineage acute lymphoblastic leukemia (ALL) and is associated with a good prognosis and a high cellular sensitivity to L-asparaginase (L-Asp).

translocation


Input: Vascular endothelial growth factor (VEGF), a known target gene of HIF-1α, has been shown to be induced by hypoxia through a HIF-1α-independent pathway.

VEGF

hypoxia


Input: The FHIT transcript was not detectable in two of 11 primary cultures derived from normal ovarian surface epithelium or in a primary culture derived from malignant ovarian ascites, whereas the remaining samples (34 malignant, eight borderline, and three benign specimens), exhibited identical expression patterns.

FHIT

ascites


Input: VEGF mRNAs were highly tumor specific, with the highest levels near necrotic regions within the tissues (0. 1 to 2. 7 dpm/mm2).

VEGF

necrotic


Input: By direct sequencing of the SGCE gene coding regions, we identified a small heterozygous deletion (c. 842delA) in exon 7 of the three sibs and asymptomatic father in the first family and an eight-base heterozygous deletion (c. 524_531del) in exon 5 of the mother and a daughter in the second family.

SGCE gene

asymptomatic


Input: Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

propionyl-CoA carboxylase beta subunit

propionic acidemia

propionyl-CoA carboxylase beta subunit

propionic acidemia


Input: In leptin receptor-deficient obese Zucker rats, with 75% higher body weight than lean littermates, GALP mRNA levels in the ARC were decreased by 75%, while neuropeptide Y (NPY) mRNA levels were increased 7-fold (n = 5, p < 0. 001), consistent with earlier reports.

GALP

body weight


Input: It has previously been demonstrated that susceptibility to pemphigus vulgaris is associated with human leukocyte antigen (HLA)-DR4 serologic specificity among Ashkenase Jews, and with DR4 as well as DR6 (DR14) in other ethnic groups.

pemphigus vulgaris


Input: In the mutant group, body mass index, weight, fat mass, waist-to-hip ratio, waist circumference, and C-reactive protein levels were higher than in the wild-type group.

C-reactive protein

waist-to-hip ratio


Input: The high mobility group A2 (HMGA2)-lipoma preferred partner (LPP) and the reciprocal LPP-HMGA2 represent such fusion genes in lipoma, while the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP) and the Ewing sarcoma (EWS)-CHOP in liposarcoma.

EWS

lipoma


Input: Analyses of covariance adjusting for age, body mass index, hyperlipidemia, diabetes, smoking, drinking, and antihypertensive medication revealed that 17 polymorphisms in 16 genes (APOB, CAST, CLCNKB, CTNS, GHR, GYS1, HF1, IKBKAP, KCNJ11, LIPC, LPL, P2RY2, PON2, SLC4A1, TRH, VWF) were significantly associated with blood pressure variations.

CLCNKB

hyperlipidemia


Input: Another translocation was found with the probe pFL-2 hybridizing with a region located about 20 kb 3' from BCL2.

translocation


Input: In the present study, we report ASS mutations detected in 35 additional CTLN1 families from 11 countries.

ASS

ASS


Input: Macrophage migration inhibitory factor (MIF) is a key proinflammatory mediator, which plays a pivotal role in inflammatory and immune diseases.

MIF

immune diseases


Input: Furthermore, a coordinately high expression of both manganese-superoxide dismutase (Mn-SOD) and catalase predicted even more favorable outcome of the mesothelioma patients.

catalase

mesothelioma

catalase

mesothelioma


Input: We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity.

FTO

cutaneous photosensitivity


Input: Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

periventricular nodular heterotopia

periventricular nodular heterotopia


Input: In addition, ABCB1 polymorphisms were connected with increased risk of liver dysfunction and infection (P < 0. 05).

liver dysfunction


Input: This study presents the results of screening the ATP7B gene by SSCP and sequencing in order to define the spectrum of mutations seen in British referrals for WD.

WD

WD


Input: These data provide the first comprehensive and quantitative analysis of the expression and localisation of MMPs and their inhibitors in human prostate cancer, leading to the identification of several genes involved in proteolysis as potential prognostic indicators, in particular hepsin, MTSP1, MMP26, PAI1, uPAR, MMP15, TIMP3, TIMP4, maspin and RECK.

prostate cancer


Input: Microscopic examination of both retinal pigment epithelium (RPE) and skin melanocytes shows the presence of large pigment granules called giant melanosomes or macromelanosomes.

RPE

giant


Input: Our analysis showed that 7 of them involved CBFA2 and new translocation partners.

translocation


Input: Combined analysis of promoter methylation and the allelic state in these cell lines indicated that the TSLC1 gene was often silenced not only by mono-allelic methylation associated with loss of the other allele but also through bi-allelic methylation.

mono


Input: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2 + channel gene CACNL1A4.

episodic ataxia type-2

episodic ataxia type-2


Input: Here, we will discuss the different inflammatory signaling pathways (e. g., VHL, hypoxia, TNF-α, STAT, and TGF-β) and the downstream transcription factors, cytokines, and chemokines involved in tumor development, and disease progression.

TGF-β

hypoxia


Input: Some ovarian cancer cells were found in a G0 quiescent state, with the highest fraction in a line with an amplified Mirk gene.

Mirk

ovarian cancer

Mirk

ovarian cancer


Input: Increases of vascular endothelial growth factor (VEGF), hypoxia induced factor (HIF), and ubiquitin are found in ocular hemangioblastomas. Interestingly, tumorlet cells, which are composed of poorly differentiated small cells with prominent dark nuclei and little cytoplasm, as well as several stem cell markers, such as erythropoietin (Epo), Epo receptor (EpoR), and CD133, are present in ocular VHL lesions.

VEGF

hypoxia


Input: This model would be useful for studying the mechanism of HER2 involvement in lung carcinogenesis and for understanding the relationship between carcinogenesis and inflammation.

inflammation


Input: NS-3 improved amnesia caused by scopolamine, electroconvulsive shock (ECS), and cycloheximide (CXM), but TRH improved only the ECS-induced amnesia.

TRH

amnesia

TRH

amnesia


Input: Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder.

NAM

NAM


Input: Intravascular delivery of a replication-deficient adenoviral vector (AV) encoding this p27-p16 fusion protein, named W9, inhibited balloon injury-induced neointimal hyperplasia in rabbit carotid arteries.

hyperplasia


Input: None of the individual SP-B genotypes or genotype combinations were associated with reduced forced expiratory volume in 1 s (FEV₁)% predicted, forced vital capacity (FVC)% pred and FEV₁/FVC overall or among smokers (p = 0. 25-0. 99).

SP-B

forced expiratory volume


Input: ], 2 with acute lymphocytic leukemia [ALL], and 2 with acute mixed lineage leukemia [AMLL]) treated with conventional chemotherapy (CHT) and 23 patients (13 AML, 5 ALL, and 5 with chronic myeloid leukemia [CML]) treated with allogeneic bone marrow transplantation (BMT) were monitored for WT1 expression levels in BM and peripheral blood (PB) by reverse transcriptase-polymerase chain reaction over a long-term period (mean, 29 months for CHT and 24 months for BMT).

CHT

chronic myeloid leukemia


Input: We conducted a case-control study to examine possible interaction between smoking and aldehyde dehydrogenase 2 (ALDH2) Glu504Lys polymorphism (rs671) on the risk of lung cancer in Japanese.

smoking


Input: Activation of PTK cascades in keloid fibroblasts is thought to be closely linked to abnormal cell proliferation and migration.

PTK

keloid


Input: Gene-based tests revealed association between common variants in 3 MIR185 target genes (ATAT1, SH3PXD2A, NTRK3) and schizophrenia.

schizophrenia

schizophrenia


Input: In multivariate analysis, only T stadium and TMEM27 staining showed a significant association with postoperative cancer-specific death (p < 0. 001).

cancer


Input: Genetic association studies have implicated the TSNAX/DISC1 (disrupted in schizophrenia 1) in schizophrenia (SCZ), bipolar affective disorder (BPAD) and major depression.

schizophrenia 1

schizophrenia 1


Input: This treatment enhanced PTEN expression, cdc42 activation and rescued dysmorphogenesis by restoring single lumen formation in Caco-2 ShPTEN glands.

dysmorphogenesis


Input: Fifteen FAP patients, mean age 37 +/-7. 7 years, mean disease duration 5. 2 +/-2. 2 years, all males, complaining of sexual dysfunction were studied with pudendal evoked potentials (PEP), bulbocavernous reflex (BCR) and sympathetic skin response (SSR).

PEP

sexual dysfunction


Input: We report 12 abnormalities of the Btk gene found in 12 unrelated families out of 14 XLA families in Japan and their clinical features.

Btk

XLA

Btk

XLA


Input: We show that mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA (1) family to human neurologic disease.


Input: Taken together, our study implicates BCL2L1 and DLC1 as potential druggable targets for specific subsets of GC cases.

GC

GC


Input: Multiple linear regression analysis also revealed significant association of an ADIPOQ variant (AD/rs12495941) with total body weight (P =. 010), waist (P =. 024), and hip (P =. 021), although these associations were not significant after adjusting for multiple testing.

ADIPOQ

body weight


Input: Both in vivo and in vitro evidence indicates that primary hyperparathyroidism is characterized by a reduced sensitivity to extracellular calcium ([Ca2 +] o).

primary hyperparathyroidism


Input: The partially overlapping pathology of PD and Alzheimer' s disease, as well as striking structural similarities of alpha-SYN and apolipoprotein E, which is a major risk factor for late-onset Alzheimer' s disease, prompted us to investigate the influence of different alpha-SYN and apolipoprotein E alleles for developing sporadic PD.

SYN

sporadic


Input: Sixty patients with reactive arthritis (ReA) and 40 with rheumatoid arthritis (RA), were typed for H LA-B27 and class II antigens DR and DQ, and studied for TAP2 gene polymorphism in comparison with 60 healthy controls.

rheumatoid arthritis


Input: Activation of autophagy was monitored with monodansylcadaverine (MDC) staining after adenovirus PI3K (I)-RNAi-GFP and control adenovirus NC-RNAi-GFP treatment.

MDC

adenovirus


Input: The aim of this study was to investigate the role of the cytosolic form of phosphoenolpyruvate carboxykinase (Pck1) in the development of insulin resistance.

insulin resistance


Input: To better understand the role of PD-1 in antiviral immunity we examined the expression of PD-1 on Epstein-Barr virus (EBV) epitope-specific CD8 + T cells during acute infectious mononucleosis (AIM) and convalescence.

AIM

infectious mononucleosis


Input: We have previously demonstrated reduced expression of GABA (B) receptor subunits 1 and 2 (GABBR1 and GABBR2) in the lateral cerebella of subjects with schizophrenia, bipolar disorder and major depressive disorder.

major depressive disorder

major depressive disorder


Input: Our previous studies demonstrated that HSulf-1 could inhibit angiogenesis and tumorigenesis in vivo.

tumorigenesis


Input: We used reverse-transcription-PCR-SSCP and direct sequencing to screen for mutations in the human beta-glucuronidase cDNA of 17 MPS VII patients with severe presentation of the disease.

beta-glucuronidase

MPS VII

beta-glucuronidase

MPS VII


Input: Susceptibility to trivalent antimony as determined in vitro with intracellular amastigotes from both visceral leishmaniasis (VL) and post-kala-azar dermal leishmaniasis (PKDL) patients correlated well with the clinical response.

PKDL

leishmaniasis


Input: The mean birth weight of infants whose mothers were homozygous for COMT-L was less than that of infants whose mothers had at least one high-activity (COMT-H) allele (2. 610 versus 2. 800 g, P = 0. 07).

COMT

birth weight


Input: Proliferation and invasion of U87. MG and U87. MG. EGFRvIII glioma cells was assessed using the 3-(4, 5-dimethylthiazol-2-Yl)-2, 5-diphenyltetrazolium bromide (MTT) assay and Matrigel invasion assays, respectively.

glioma


Input: Recently, a new mutation, p. G130V in the GJB2 gene has been reported as causative for Vohwinkel syndrome.

Vohwinkel syndrome

Vohwinkel syndrome


Input: YB-1 knockdown by siRNA upregulated 344 genes, including MDR1, thymidylate synthetase, S100 calcium binding protein and cyclin B, and downregulated 534 genes, including CXCR4, N-myc downstream regulated gene 1, E-cadherin and phospholipase C. Exogenous serum addition stimulated YB-1 translocation from the cytoplasm to the nucleus, and treatment with Akt inhibitors as well as Akt siRNA and integrin-linked kinase (ILK) siRNA specifically blocked YB-1 nuclear localization.

E-cadherin

translocation


Input: Short allele (< 25 GT repeats) of the HMOX1 polymorphism was associated with high systolic and diastolic blood pressure, and the T allele of the NQO1 C609T polymorphism was associated with increased triglyceride levels and decreased HDL-c levels, but only in individuals with MetS.

diastolic blood pressure


Input: Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11.

PRODH

proline oxidase deficiency

PRODH

proline oxidase deficiency


Input: TRIP6 regulates the membrane translocation and activation of AKT and facilitates AKT-mediated recognition and phosphorylation of p27 (KIP1) specifically at T157, thereby promoting the cytosolic mislocalization of p27 (KIP1).

translocation


Input: Acute infectious mononucleosis (AIM) induced by Epstein-Barr virus (EBV) infection is characterized by extensive expansion of antigen-specific CD8 + T cells.

AIM

infectious mononucleosis


Input: Our observations support the concept of dosage effects of PAX6 mutations as well as presenting evidence for variable expressivity and gonadal mosaicism.

variable expressivity


Input: The current studies examine potential neuroprotective and immunomodulatory effects of SIRT1 overexpression in chronic EAE induced by immunization of C57BL/6 mice with myelin oligodendrocyte glycoprotein peptide 35-55.

myelin oligodendrocyte glycoprotein

EAE

myelin oligodendrocyte glycoprotein

EAE


Input: Multivariate analysis demonstrated that only alcohol consumption, lymph node metastasis and XIAP level were independently associated with the prognosis of advanced HNSCC patients.

XIAP

alcohol consumption


Input: A 5-year-old girl with congenital central hypoventilation syndrome associated with Hirschsprung' s disease (Ondine-Hirschsprung syndrome) representing a missense mutation in exon 12 of the receptor tyrosine kinase (RET) proto-oncogene is reported.

RET) proto-oncogene

Ondine-Hirschsprung syndrome

RET) proto-oncogene

Ondine-Hirschsprung syndrome


Input: Our results show that methylation of E-cadherin occurs commonly in acute leukemia and suggests a hypothesis for E-cadherin down-regulation in leukemogenesis.

E-cadherin

acute leukemia


Input: In summary, this project provides further clarity concerning the function of Malat1, specifically in breast cancer, while also indicating that the Nischarin expression context is an important factor in the determining how Malat1 activity is governed in breast cancer.

breast cancer

breast cancer


Input: A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

HNPCC

Muir-Torre syndrome

HNPCC

Muir-Torre syndrome


Input: The recent discovery of new germline mutations in RET, SDHA, SDHB, SDHC, SDHD, VHL, NF1, TMEM127, MAX genes, increased the rate of genetic disease from 10% to 28% in patients with apparently sporadic tumor.

MAX

sporadic


Input: CCN family, comprising six members (Cyr61, CTGF, Nov, WISP-1, WISP-2, WISP-3), is involved in the stimulation of cell proliferation, migration, adhesion, angiogenesis, and tumorigenesis.

adhesion


Input: We show that KDM3A is overexpressed in Ewing Sarcoma, and that its depletion inhibits clonogenic and anchorage-independent growth in multiple patient-derived cell lines, and tumorigenesis in a xenograft model.

tumorigenesis


Input: In contrast, no non-neoplastic UC mucosa showed HPP1 methylation.

non-neoplastic


Input: EGCG rapidly induced mitochondria-localized reactive oxygen species in human oral squamous carcinoma cells (SCC-25, SCC-9) and premalignant leukoplakia cells (MSK-Leuk1), but not in normal human gingival fibroblast cells (HGF-1).

HGF

leukoplakia


Input: Multivariate regression analysis was performed to assess the effects of the following variables on the presence of plaque, mean plaque thickness, and number of plaques: fibrinogen, sex, age, body mass index, mean blood pressure, glycosylated hemoglobin, LDL cholesterol, HDL cholesterol, hematocrit, and the D allele of the ACE gene.

ACE gene

mean blood pressure


Input: Drug-induced interstitial lung disease (ILD), particularly pulmonary fibrosis, is a serious clinical concern and myofibroblasts have been suggested to have a major role, with it recently being revealed that some of these myofibroblasts are derived from lung epithelial cells through epithelial-mesenchymal transition (EMT).

EMT

interstitial lung disease


Input: Finally, cold, β-agonists, or forced expression of PGC-1α are unable to cause thermogenic gene expression in the absence of IRF4.

cold


Input: Our findings suggest that ADRA2A plays an important role in depression therapy.

depression

depression


Input: These metaanalyses provide moderate epidemiological credibility for associations of variation in ADRB3 with overactive bladder, and variation of COL1A1 with prolapse.

prolapse


Input: The relationship with the TT genotype was stronger in white patients with nonatopic asthma (OR = 4. 4 [95% CI = 1. 3-14. 8]) and patients with food allergy (OR = 5. 1 [95% CI = 1. 6-16. 2]), even adjusting for sex differences (OR = 3. 9 [95% CI = 1. 1-13. 5] and OR = 4. 6 [95% CI = 1. 4-14. 8], respectively).

food allergy


Input: The rs738409 genetic variant in the patatin-like phospholipase domain-containing 3 (PNPLA3, adiponutrin) gene has been implicated as a genetic determinant of the entire spectrum of liver diseases, ranging from steatosis, chronic hepatitis, cirrhosis and ultimately to HCC.

HCC

liver diseases


Input: Linkage disequilibrium between polymorphisms of ABCB1 and ABCC2 to predict the treatment outcome of Malaysians with complex partial seizures on treatment with carbamazepine mono-therapy at the Kuala Lumpur Hospital.

mono


Input: In vivo studies with s. c. murine DBT glioblastoma tumors treated with transglutaminase 2 inhibitors combined with the chemotherapeutic agent, N-N'-bis (2-chloroethyl)-N-nitrosourea (BCNU), decreased tumor size based on weight by 50% compared with those treated with BCNU alone.

DBT

weight


Input: Ten ovarian cancer cell lines were analyzed by methylation-specific PCR, and seven (GPR150, LOC222171, PRTFDC1, LOC339210, ITGA8, C9orf64 and HOXD11) of the 33 CGIs were methylated in one or more of the cell lines.

ovarian cancer

ovarian cancer


Input: RUNX1 was first identified as the gene on chromosome 21 that is rearranged by the translocation t (8; 21) (q22; q22. 12) recurrently found in the leukemic cells of patients with AML.

translocation


Input: In conclusion, we show that circulating IL-1RA levels are predicted by two independent SNPs at the IL1RN and IL1F10 loci and that genetically raised IL-1RA may be protective against the development of insulin resistance.

insulin resistance


Input: We propose that this TBK1-dependent mechanism for NF-κB signalling contributes to autophagy addiction in K-Ras driven NSCLC.

NF-κB

addiction


Input: Multivariate logistic regression analysis with adjustment for age, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, hypercholesterolemia, and hyperuricemia revealed that two polymorphisms (242C--> T in the NADH/NADPH oxidase p22 phox (p22-PHOX) gene and 2136C--> T in the thrombomodulin (THBD) gene) in men and two polymorphisms (584G--> A in the paraoxonase 1 (PON1) gene and 2445G--> A in the fatty acid-binding protein 2 (FABP2) gene) in women were significantly associated with restenosis after POBA.

body mass index


Input: Stepwise multiple linear regression models showed a significant association of DPD expression with distant metastases (P = 0. 004) and residual tumor categories (P = 0. 03).

DPD

residual tumor


Input: Regulation of the human serotonin transporter. Cholera toxin-induced stimulation of serotonin uptake in human placental choriocarcinoma cells is accompanied by increased serotonin transporter mRNA levels and serotonin transporter-specific ligand binding.

serotonin transporter

placental choriocarcinoma


Input: Betel quid (BQ) chewing is an oral habit that increases the risk of oral cancer and oral submucous fibrosis (OSF), a precancerous condition showing epithelial atrophy and tissue fibrosis.

OSF

oral cancer


Input: The results of this study suggest that a polymorphism in the Homer1 gene, rs6871510, is a potential risk factor for the development of cocaine dependence in an African American population, whereas polymorphisms in the Homer2 gene are not.

cocaine dependence

cocaine dependence


Input: Under similar irradiation conditions with a priming and challenging irradiation in wtp53 cells, induction of radioresistance and a depression of chromosomal aberrations were observed only in the absence of 5, 5'-(2, 5-Furanidiyl) bis-2-thiophenemethanol (RITA) or Nutlin-3 (p53-Hdm2 interaction inhibitors), aminoguanidine (an inducible nitric oxide synthase inhibitor), and c-PTIO (an NO radical scavenger).

RITA

chromosomal aberrations


Input: Our results suggest that the changes in the expression levels of GDNF, ARTN, and NT-3 mRNAs might be state-dependent and associated with the pathophysiology of major depression.

ARTN

major depression

ARTN

major depression


Input: Functional assays were performed with adenovirus-mediated expression of DUSP6 in glioblastoma cultures.

glioblastoma

glioblastoma


Input: Gadd45b is abnormally expressed in subjects with autism and psychosis, two disorders associated with cognitive deficits.

psychosis

psychosis


Input: The highest prevalence of severe gastric abnormalities was found in patients with both host and bacterial high-risk genotypes (cagA (+)/vacAs1 (+)/IL-1B-511T/IL-1RN * 2), with ORs of 24. 8 (95% CI, 5. 2-117. 3) for severe lymphocytic infiltration, 9. 5 (95% CI, 2. 8-32. 1) for severe granulocytic infiltration, 6. 0 (95% CI, 2. 4-15. 5) for IM, and 2. 4 (95% CI, 0. 93-6. 2) for AG.

abnormalities


Input: Yet, significant associations of RBP4 with atherogenic lipids were found and a focus of future studies should be the influence on atherosclerosis and related complications.

atherosclerosis


Input: Mechanistically, Lxn inhibited the nuclear translocation of Rps3 upon radiation, resulting in abnormal mitotic spindle formation and chromosome instability.

chromosome instability

chromosome instability


Input: Co-amplification of a portion of DSCR1 (Down syndrome Critical Region 1) and the reference gene, CFTR (cystic fibrosis transmembrane regulator) enabled molecular detection of trisomy 21.

CFTR

trisomy 21


Input: Here, we have investigated the possible association of 9 single-nucleotide polymorphisms (SNP) in 8 different genes-FASLG, JMJDIA, LOC203413, TEX15, BRDT, OR2W3, INSR, and TAS2R38--with male infertility.

FASLG

male infertility


Input: Human lung adenocarcinoma CL1-5 cells were treated with GL331 and then maintained in serum-reduced, GL331-free medium for the preparation of condition mediums.

lung adenocarcinoma


Input: Fluorescence in situ hybridization for IGH, BCL2, BCL6, CCND1, and MYC loci showed that the only chromosomal translocation was rearranged IGH in 1 case.

chromosomal translocation


Input: The assessment in haemostasis system, fibrinogen, tissue plasminogen activator (t-PA) and its inhibitor type-1, von Willebrand factor and beta-thromboglobulin (beta-TG) levels and the changes in renin-angiotensin system (RAS), by determined angiotensin converting enzyme I (ACE) activity, in patients with essential hypertension (in relation to left ventricular hypertrophy) in comparison with normotension subjects.

beta-TG

fibrinogen


Input: Familial hypocalciuric hypercalcemia: new mutation in the CASR gene converting valine 697 to methionine.

CASR

Familial hypocalciuric hypercalcemia

CASR

Familial hypocalciuric hypercalcemia


Input: In comparison to the control, the aspirin-sensitive rhinitis group had a significant increase of VIP-like immunoreactivity in mucosal nerve fibres.

VIP

rhinitis

VIP

rhinitis


Input: ACA11 suppressed oxidative stress, afforded resistance to chemotherapy, and increased the proliferation of MM cells, demonstrating that ACA11 is a critical target of the t (4; 14) translocation in MM and suggesting an oncogenic role in other cancers as well.

translocation


Input: BMPR2 potentially signals through multiple immediate downstream pathways, including Smad, MAPK, LIM domain kinase 1 (LIMK) and dynein, light chain, Tctex-type 1 (TCTEX), v-src sarcoma viral oncogene homolog (SRC), and nuclear factor kappa-B (NFkB).

LIMK

sarcoma


Input: When age, disease duration, and MMSE scores were controlled in a logistical regression model, FAD patients were more likely to have significant headaches, myoclonus, gait abnormality, and pseudobulbar affect than those with NF-EAD.

EAD

gait abnormality


Input: LC-and HC-MBL had similar somatic hypermutation status, yet different IGHV gene repertoires and frequencies of B-cell receptor (BcR) stereotypy.

MBL

stereotypy


Input: They also revealed that the variation of the NKX2. 5 gene may not be a risk factor for sporadic patients with congenital heart disease in this population.

NKX2. 5

sporadic


Input: He had neither ataxia nor telangiectasia, and his immunological status and serum alpha feto protein (AFP) level were normal.

AFP

telangiectasia


Input: Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

PIGV

hyperphosphatasia with mental retardation

PIGV

hyperphosphatasia with mental retardation


Input: We conclude that IL-4-589 * T, but not TNF-alpha-308 * 2 or Fcalpha RIbeta * G, is a risk factor for the development of atopy, asthma, and rhinitis by 12 mo of age.

TNF-alpha

atopy


Input: Failures in the mitotic checkpoint induced by changes in expression levels of the spindle assembly checkpoint (SAC) proteins cause the missegregation of chromosomes in mitosis as well as aneuploidy.

SAC

aneuploidy


Input: In the current case-control study, the authors investigated the association between MBD2 expression and bladder carcinoma risk.

bladder carcinoma


Input: We observed selective up-regulation of miRNA-221 and down-regulation of a miRNA-221 messenger RNA target encoding the survivin-1 homolog BIRC1, a neuronal inhibitor of apoptosis protein (NIAP) and marker for neurodegeneration.

neurodegeneration


Input: We show that Zyxin is required for TGF-β and hypoxia-induced Lats2 downregulation and deactivation of Hippo signalling in MDA-MB-231 cells.

TGF-β

hypoxia


Input: Using sera from a long-term surviving metastatic melanoma patient vaccinated with irradiated, autologous tumor cells engineered to secrete granulocyte-macrophage colony stimulating factor (GM-CSF), we identified an antigen reported to be a putative opioid growth factor receptor (OGFr).

OGFr

metastatic melanoma


Input: They include decreased cytochrome b5 and transgelin, and more abundant CRABP-II, cyclophilin A, Neudesin, and hemoglobin in ER +/PR + tumors versus ER +/PR-providing a possible explanation for differential susceptibility against tamoxifen as a result of deregulated cytochrome b5-dependent metabolism.

CRABP-II

hemoglobin


Input: The number of circulating erythrocytes and neutrophils was significantly increased in animals with HOAc-induced colitis and treated with IL-1ra, suggesting that IL-1ra under these experimental conditions inhibited the migration of neutrophils to the injured colon and also the overall intestinal necrosis in the colon as assessed by gross pathology.

necrosis

necrosis


Input: Similar patterns of coding microsatellite instability in MMR-DCF and MMR-deficient cancers suggest that certain combinations of coding microsatellite mutations, including mutations of the HT001, AIM2 and BAX gene, may contribute to the progression of MMR-deficient lesions into MMR-deficient cancers.

MMR

microsatellite instability


Input: The HFD caused increased adiposity and reduced insulin sensitivity only in the LCR and not the HCR strain.

HCR

insulin sensitivity


Input: Embryonic signaling pathways, in particular those mediated by Wnt and TGF-β, are known to play key roles in tumor progression through the induction of epithelial-mesenchymal transition (EMT).

EMT

tumor progression


Input: Thanatophoric dysplasia type I (TDI) is a neonatal lethal skeletal dysplasia caused by several mutations in the extracellular domain of fibroblast growth factor receptor 3.

TDI

lethal skeletal dysplasia


Input: In addition, multiple regression analysis with a forward elimination procedure showed that only the ACE genotype was associated with RI of arcuate arteries (R2 = 0. 24, p < 0. 01) among the parameters of sex, age, IDDM duration, body mass index, HbA1c, plasma glucose levels, serum levels of total cholesterol and creatinine, urinary albumin excretion index, mean blood pressure and ACE genotype.

ACE

mean blood pressure