Input: Exogenous VEGF, directly administered or overexpressed by gene delivery into rat brains, reduces ischemic brain infarct and decreases hypoxic neuronal death.

VEGF

hypoxic


Input: In summary, our findings show direct anti-inflammatory activity of MKP5 in prostate cells and suggest that up-regulation of MKP5 by phytochemicals may contribute to their chemopreventive actions by decreasing prostatic inflammation.

inflammation

inflammation


Input: Using whole-exome sequencing of case-parents trios, we have identified a de novo missense mutation in TRPV3 that produces p. Gly573Ser in an individual with OS.

OS

OS


Input: In addition, we report that the treatment of at least two human prostate cancer cell lines with the DNA methylation inhibitor 5-aza-2'-deoxycytidine induced the expression of SSX-2.

prostate cancer

prostate cancer


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


Input: For example, a recent study suggested that one cannot adequately impute the HOXB13 G84E mutation associated with prostate cancer risk (carrier frequency of 0. 0034 in European ancestry participants in the 1000 Genomes Project).

prostate cancer

prostate cancer


Input: Depletion of Ccdc28b in zebrafish results in defective ciliogenesis and consequently causes a number of phenotypes that are characteristic of BBS and other ciliopathy mutants including hydrocephalus, left-right axis determination defects and renal function impairment.

ciliopathy

ciliopathy


Input: This protection was associated with decreased myelin oligodendrocyte glycoprotein-specific T-cell activation by primed DCs, decreased circulating autoantibodies, attenuated inflammation within the CNS, and increased Foxp3 (+) regulatory T cells in the periphery and in the CNS.

myelin oligodendrocyte glycoprotein

inflammation


Input: Investigation of functional relationships between the eight fine-mapped genes using Ingenuity Pathway Analysis identified a single functional network (p = 10 (-13)) containing five fine-mapped genes-LNX1, CAMK2D, ZFHX3, CSMD1, and TCP1-with functional relationships potentially related to inflammation, apoptosis, and cardiovascular pathology.

inflammation


Input: The more seriously affected patient had shorter height (125 cm), atlantoaxial instability associated with os odontoideum, flat feet, and cleft palate, absence of the femoral head on radiographic and magnetic resonance imaging (MRI), and dislocated proximal femur.

MRI

atlantoaxial instability


Input: The remaining 9 findings implied possible associations between phosphatidylethanolamine N-methyltransferase (PEMT) gene and total cholesterol; USP46, RAP1GDS1, and ZCCHC16 genes and triglycerides; BCAT1 and SLC14A2 genes and albumin; and NR3C2, GRIK2, and PCSK2 genes and fibrinogen.

fibrinogen


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

ovarian cancer

ovarian cancer


Input: docosahexaenoic acid (DHA), eicosapentaenoic acid, uridine-mono-phosphate (UMP), choline, phospholipids, folic acid, vitamins B6, B12, C, E, and selenium.

mono


Input: This study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome.

CAPOS syndrome

CAPOS syndrome


Input: VEGF synthesis is modulated by hypoxia-inducible factor-1 (HIF-1) function within the hypoxic microenvironment of growing cancer tissue.

VEGF

hypoxic


Input: The present study specifically re-examines the potential modification of the association between alcohol consumption and CHD by the CETP TaqIB (rs708272) polymorphism in a sample including both men and women.

CETP

alcohol consumption


Input: The AChE membrane-binding tail PRiMA is down-regulated in muscle and nerve of mice with muscular dystrophy by merosin deficiency.

PRiMA

muscular dystrophy

PRiMA

muscular dystrophy


Input: AAT deficiency is a genetic disease that manifests with emphysema and liver cirrhosis due to the accumulation of a misfolded AAT mutant in hepatocytes.

AAT

emphysema

AAT

emphysema


Input: Using the Hereditary Hearing Loss arrayed primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals with early presbycusis to 50 unaffected controls and aimed to identify possible genetic contributors.

presbycusis


Input: Frequency of HLA A2, A9, A24 (9), A25, A69 (28), B12, B22, B38, B49 (21), DR4, and DR14 antigens were significantly higher, and frequencies of HLA B7 and DR7 were significantly less in sarcoidosis patients.

sarcoidosis


Input: It is concluded that upregulated ERalpha in prostatic stroma may have a greater modulating influence on synthesis of certain growth factors than the direct action of androgens and, by enhancing synthesis of FGF-2 and FGF-7, could play a significant role in the development of BPH.

BPH

BPH


Input: In infertile women, a positive association was found between BPA and MEHP levels and ER α, ER β, AR, AhR, and PXR expression.

PXR

infertile


Input: To clarify the reason for the difference in incidence of follicular lymphoma between whites and Japanese, the frequency of BCL-2/J (H) translocation in peripheral blood lymphocytes of healthy Japanese individuals was compared with that of German individuals.

translocation


Input: These data define a link between inflammation and EMT, processes involved in the malignant transformation of cells caused by CSE.

CSE

inflammation


Input: Anaplastic lymphoma kinase (ALK), physiologically expressed only by nervous system cells, displays a remarkable capacity to transform CD4 (+) T lymphocytes and other types of nonneural cells.

nervous system


Input: Gene expression profile (GEP)-based classification of colonic diseases is a new method for diagnostic purposes.

GEP

colonic diseases


Input: UCP2 (-/-) mice exhibited pulmonary vascular remodeling and mild PH compared with wild-type (WT) mice.

mild


Input: When exposed to hypoxic conditions, prostate carcinoma cells overexpressing bcl-2 expressed statistically significantly higher levels of vascular endothelial growth factor (VEGF), an angiogenic factor, than control-transfected cells (P =. 001 for PC3, P =. 04 for DU-145 after 48 hours).

VEGF

hypoxic


Input: We identified significant expression quantitative trait locus (eQTL) associations for HOXD9 at 2q31. 1 in ovarian (P = 4. 95 & #215; 10 (-4), false discovery rate (FDR) = 0. 003) and colorectal (P = 0. 01, FDR = 0. 09) tumors and for PAX8 at 2q13 in colorectal tumors (P = 0. 03, FDR = 0. 09).

colorectal tumors

colorectal tumors


Input: FMNL2 messenger RNA was targeted by miR-137; expression of miR-137 inhibited proliferation and invasion by CRC cells in vitro, and metastasis to liver and intestine by CRC xenografts in nude mice.

metastasis to liver


Input: Here, we show that hypoxic conditions induce miR-155 expression in lung cancer cells and trigger a corresponding decrease in a validated target, FOXO3A.

hypoxic


Input: Review of muscle biopsies from patients with diagnoses of CFTD revealed that patients with a TPM3 mutation all displayed marked disproportion of fiber size, without type 1 fiber predominance.

CFTD

CFTD


Input: Although there were no significant differences in the allele or genotype distributions among patients with different grades of goiter in GD and healthy controls, the distribution of the C allele, especially C/C genotype, of the rs755622 single nucleotide polymorphism (SNP) in MIF, may be as a risk factor for goiter initiation whereas a protector against development of severe goiter in patients with untreated GD (p < 0. 05).

MIF

goiter


Input: It is worth noting that the metabolism of gefitinib in the sensitive cells is a consequence and not the cause of drug responsiveness, indeed treatment with a CYP1A1 inhibitor increased the efficacy of the drug because it prevented the fall in intracellular gefitinib level and significantly enhanced the inhibition of EGFR autophosphorylation, MAPK and PI3K/AKT/mTOR signalling pathways and cell proliferation.

fall


Input: Thus, RBP4 and PLAC8 may become new therapeutic targets for prostate cancer bone metastasis, in combination with OPG/RANKL/RANK pathway inhibition.

prostate cancer


Input: The aim of this review is to evaluate the evidence for BRCA1 dysfunction in SEOC and to link this dysfunction to a defective DNA repair pathway and ultimately the promotion of genomic instability and tumorigenesis.

genomic instability


Input: Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.

PDGFRB

IM

PDGFRB

IM


Input: Correlation with Bcl-2 immunostaining showed that of seven patients with high-grade cutaneous diffuse large B-cell lymphoma, four were Bcl-2 positive but had no evidence of a t (14; 18) translocation.

translocation


Input: Both vascular endothelial growth factor (VEGF) and Dll4/Notch pathways are critical for angiogenesis, whereas their relationship under hypoxia in lung cancer remains unknown.

VEGF

hypoxia


Input: TAP-PN was a significant predictor of recurrence univariately (P = 0. 0006), as well as multivariately, adjusted for known markers including preoperative PSA, clinical stage, Gleason score, surgical margin, extra-prostatic extension, seminal vesicle invasion and lymph node metastasis (P = 0. 0012).

TAP

lymph node metastasis


Input: Therapeutic strategies targeting RhoC and RhoC-mediated pathways may be a novel approach for treating metastasis of gastric cancer.

RhoC

gastric cancer


Input: IFN-gamma and IL-10 were significantly higher in the symptomatic children (p = 0. 009, p = 0. 025 respectively) than in the asymptomatic controls but no differences were seen for IL-12 (p70).

asymptomatic


Input: These consisted of leukemia-free survival (LFS), overall survival (OS), cumulative incidence of relapse (CIR), and non-relapse mortality disease (NRM).

NRM

leukemia


Input: Three patients with Philadelphia chromosome-positive (Ph-positive) chronic myeloid leukemia (CML) who developed new cytogenetic abnormalities after achieving a cytogenetic complete remission (CR) of their Ph-positive disease with interferon alpha (IFN-alpha) based therapy are described.

IFN-alpha

cytogenetic abnormalities


Input: SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung' s disease.

Hirschsprung' s disease

Hirschsprung' s disease


Input: Human prostate adenocarcinoma cell lines, TSU-PR1 and PC3, were grown in serum-free media containing 4-HPR.

prostate adenocarcinoma


Input: This new cell line may prove helpful in analyzing the role and biological mechanisms of the t (4; 14) (p16. 3; q32. 3) translocation in myeloma and also in investigating hyperammonemia in cases with myeloma.

hyperammonemia


Input: Thus, coincident filarial infection exerted a profound inhibitory effect on protective mycobacteria-specific Th1 and Th17 responses in latent tuberculosis, suggesting a mechanism by which concomitant filarial (and other systemic helminth) infections predispose to the development of active tuberculosis in humans.

latent tuberculosis


Input: Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.

Dejerine-Sottas disease

Dejerine-Sottas disease


Input: The mechanisms governing extracellular matrix degradation and smooth muscle cell (SMC) loss in the ascending aorta of bicuspid aortic valve (BAV) patients are unknown.

SMC

bicuspid aortic valve


Input: We evaluated the circulating levels of brain natriuretic peptide (BNP) in stable angina, unstable angina, and myocardial infarction relating hormone levels to extension of coronary disease and number of vessels involved after angiographic examination.

BNP

unstable angina


Input: Thrombophilic risk factors analyzed were hyperhomocysteinemia, MTHFR gene mutation, factor V Leiden mutation, protein C and S deficiency, antithrombin deficiency, prothrombin gene mutation, anticardiolipin antibodies and lupus anticoagulant.

protein C

deficiency, prothrombin


Input: In this study, we elucidated the mechanisms underlying the regulation of VEGF and endoglin production under hypoxic conditions in the trophoblast-derived cell line, BeWo.

VEGF

hypoxic


Input: Demonstration of the existence, in some APL-like leukemias, of masked translocations with involvement of PML and RARA, thus allows to (i) confirm the diagnosis of APL, (ii) adapt the treatment and (iii) monitor the residual disease.

RARA

residual disease


Input: Trisomy 12 cells also exhibit upregulation of intracellular integrin signaling molecules CALDAG-GEFI, RAP1B, and Ras-related protein ligand, resulting in enhanced very late antigen-4 [VLA-4] directed adhesion and motility.

adhesion


Input: Significant upregulation of CNIH-1, CNIH-2, and CNIH-3 mRNA expression was found in schizophrenia, with no change in CNIH-4 expression.

schizophrenia

schizophrenia


Input: We examined the role of MIS determination in the evaluation of 65 phenotypic females with mild virilization.

MIS

mild


Input: The observed abnormalities of adhesion and migration imply a profound trafficking defect among human MST1-deficient lymphocytes.

abnormalities


Input: Furthermore, haplotypes of LEP, LEPR and GHRL polymorphisms were associated with varying measurements of weight, BMI and WC.

LEPR

weight


Input: After T (reg) depletion, splenocytes from WT mice responded to peptides C, D and J (all in the A-subunit), but transgenic splenocytes recognized only peptide D. Because CD4 (+) T cells are critical for thyroid lymphocytic infiltration, amino acid sequences of these peptides were examined for in silico binding to BALB/c major histocompatibility complex class II (IA-d).

lymphocytic infiltration


Input: Bcl-2/adenovirus E1B-19kDa-interacting protein 3 (BNIP3) is an important mediator of cell survival and a member of the Bcl-2 family of proteins that regulate programmed cell death and autophagy.

adenovirus


Input: Moreover, VHL was mutated and lost in a renal tumour from a patient with familial renal carcinoma carrying the constitutional translocation, t (3; 8) (p14; q24).

familial renal carcinoma


Input: We assessed interactions between FTO variants and intakes of dietary fat and protein in relation to change in body weight and insulin resistance using generalized estimating equation models.

FTO

insulin resistance


Input: These data indicate that activation of c-Kit by SCF leads to a predominantly HIF-1alpha-mediated enhancement of VEGF expression and that inhibition of c-Kit signaling with imatinib could result in inhibition of tumor angiogenesis.

SCF

tumor angiogenesis


Input: Finally, SLC16A12, GALR2, TOX, SPOCK2, EGFR5 and DPYS are candidate biomarkers for breast cancer (methylation range 33%-79%) with the combination of EGFR5 or TOX hypermethylation showing a sensitivity of 92% and specificity of 92%.

breast cancer


Input: We observed a general up-regulation of positive proliferation regulators, including survivin, multiple growth factors, genes involved in cell cycle progression, and regulatory factor-receptor loops, and the down-regulation of transcriptional repressors, such as Mad4 and JunB, and of antiproliferative and proapoptotic genes, including B cell translocation gene-1 and-2, cyclin G2, BCL-2 antagonist/killer 1, BCL 2-interacting killer, caspase 9, and TGFbeta family growth inhibitory factors.

translocation


Input: Organ-derived TNF-alpha plays a crucial role in the development of MODS in this murine model.

TNF

MODS

TNF

MODS


Input: We report a female infant with a karyotype of 46, XX, der (9) t (9; 18) (p22. 2; q21. 32) pat and the phenotypic features of craniofacial dysmorphisms, developmental delay, hypotonia, horizontal nystagmus, strabismus, congenital heart defects, clubfoot, and anorectal malformations with an anterior ectopic anus and a stenosed anal opening.

congenital heart defects


Input: Finally, depletion of DCAF1 inhibits the hyperproliferation of Schwannoma cells from NF2 patients and suppresses the oncogenic potential of Merlin-deficient tumor cell lines.

Merlin

Merlin


Input: The translocation t (11; 18) (q21; q21) that generates an API2-MALT1 fusion protein is the most common structural abnormality among the genetic defects reported in mucosa-associated lymphoid tissue (MALT)-type lymphomas, and its presence correlates with the apparent lack of further genetic instability or chromosomal imbalances.

translocation


Input: However, little is known about the effect of TSA on growth of human tongue carcinoma cells.

TSA

tongue carcinoma


Input: Sex-dependent control of murine emotional-affective behaviour in health and colitis by peptide YY and neuropeptide Y.

peptide YY

colitis


Input: Sanger sequencing of four additional unrelated RAK patients revealed four additional ADAM10 mutations.

RAK

RAK


Input: ErbB2 receptor tyrosine kinase signaling mediates early demyelination induced by leprosy bacilli.

demyelination


Input: Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy.

desmin

desmin-related myopathy

desmin

desmin-related myopathy


Input: Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.

BOR

hearing impairment


Input: CXCL12 producing carcinomas cultured on poly-HEMA displayed heightened Bim and loss of Mcl-1 and Bcl-2 preceding cytochrome c release, and caspase-9 activation.

cytochrome c

carcinomas


Input: By suppressing the phosphoinositide 3-kinase (PI3K)-AKT-mammalian target of rapamycin (mTOR) pathway through its lipid phosphatase activity, PTEN governs a plethora of cellular processes including survival, proliferation, energy metabolism and cellular architecture.

AKT

plethora


Input: DFSP often reveals a specific chromosome translocation, t (17; 22) (q22; q13), which results in the fusion of collagen 1 alpha 1 (COL1A1) gene and platelet-derived growth factor-B (PDGFB) gene.

chromosome translocation


Input: Kaplan-Meier plot analysis revealed no significant difference between adult precursor B-ALL patients with monoclonal or oligoclonal IgH gene rearrangements and their disease-free survival rates.

IgH

B-ALL

IgH

B-ALL


Input: Thus, HRG treatment of primary cultures of epithelial cells of the progestin-dependent C4HD murine mammary tumor line and of T47D cells induced a decrease of protein levels of PRA and-B isoforms and the downregulation of progesterone-binding sites.

HRG

mammary tumor


Input: GISTs and PGLs in CT are associated with chromosome 1 and other changes that appear to participate in tumor progression and point to their common genetic cause.

PGLs

tumor progression


Input: Intracranial calcification in siblings with nephrogenic diabetes insipidus: CT and MRI.

MRI

nephrogenic diabetes insipidus


Input: We show that down-regulation of C/EBPβ in mouse hepatoma cells and in mouse livers reduces C/EBPβ-HDAC1 complexes and activates the gankyrin promoter.

hepatoma


Input: The fact that high CD40 expression existed more in expanding type tumor and had more liver metastasis suggests CD40 may play an important role in local invasion mode and hematogenous spread.

liver metastasis


Input: Based on these data we estimate a prevalence of 31% for ABCA4 mutations in arCD and arCRD, supporting the concept that the ABCA4 gene is a major locus for various types of degenerative retinal diseases with abnormalities in cone or both cone and rod function.

ABCA4 gene

abnormalities


Input: Endothelin-1 and VEGF expression were higher in HIF-CDCs exposed to hypoxia, compared with non-transduced CDCs.

VEGF

hypoxia


Input: We demonstrated that miR145 negatively regulates GBM tumorigenesis by targeting Oct4 and Sox2 in GBM-CD133 (+).

tumorigenesis


Input: These data argue for a dimensional rather than categorical effect of genetic variance in DBH activity; accordingly, the inconsistency of previous findings concerning DbetaH levels in affective disorders might be caused by the underlying association of the TT genotype at DBH-1021 with impulsive personality traits.

DBH

personality traits


Input: We have determined, in 84 patients with clinically and biochemically characterized SLOS (detection rate 96%), the mutational spectrum in the DHCR7 gene.

SLOS

SLOS


Input: This purpose of this study was to examine clinical-pathologic factors--particularly smoking and brain metastases--in EGFR mutation positive (M (+)) lung adenocarcinoma (ADC) to determine their impact on survival in patients treated with first line EGFR TKI.

EGFR

smoking


Input: Up-regulation of the isoenzymes MAO-A and MAO-B in the human basal ganglia and pons in Huntington' s disease revealed by quantitative enzyme radioautography.

MAO-B

Huntington' s disease

MAO-B

Huntington' s disease


Input: The identified variant appears to shorten motor neuron survival through a detrimental effect on axonal growth and CRMP4 could act as a key unifier in transduction pathways leading to neurodegeneration through effects on early axon development.

neurodegeneration


Input: Brain-derived neurotrophic factor promotes tumorigenesis via induction of neovascularization: implication in hepatocellular carcinoma.

Brain-derived neurotrophic factor

tumorigenesis


Input: This study investigates whether regular physical activity (moderate endurance or resistance training twice a week for 3 months) influences the key regulatory molecules of mitochondrial biogenesis (peroxisome proliferator-activated receptor gamma coactivator-1α (PGC1α), nuclear respiratory factor-1 (NRF1), and mitochondrial transcription factor A (TFAM)) in patients suffering from non-insulin-dependent type 2 diabetes mellitus (T2DM) (n = 16, years = 62 ± 7, body mass index (BMI) = 30 ± 4 kg/m (2)).

body mass index


Input: In contrast to the acquired MPDs, mutations of the erythropoietin receptor and thrombopoietin receptor have been identified in familial forms of nonclonal erythrocytosis and thrombocytosis, respectively.

erythropoietin receptor

erythrocytosis

erythropoietin receptor

erythrocytosis


Input: Specifically, hypoxia-induced downregulation of PHLPP is partially rescued in TSC2 or 4E-BP1 knockdown cells as the result of elevated mTOR activity and protein synthesis.

hypoxia


Input: Treatment with an adenoviral vector encoding hepatocyte growth factor mitigates established cardiac dysfunction in doxorubicin-induced cardiomyopathy.

hepatocyte growth factor

cardiomyopathy

hepatocyte growth factor

cardiomyopathy


Input: We employed HTGTS to identify tens of thousands of independent translocation junctions involving fixed I-SceI meganuclease-generated DNA double-strand breaks (DSBs) within the c-myc oncogene or IgH locus of B lymphocytes induced for activation-induced cytidine deaminase (AID)-dependent IgH class switching.

AID

translocation


Input: Methylation status of XAF1 was detected by methylation-specific polymerase chain reaction (MSP) in four esophageal cancer cell lines (KYSE30, KYSE70, BIC1 and partially methylated in TE3 cell lines), nine cases of normal mucosa, 72 cases of primary esophageal cancer and matched adjacent tissue.

MSP

esophageal cancer


Input: The transmission of longer repeats of (AT) (n) alleles of CTLA-4 is also associated with women undergoing recurrent miscarriage.

recurrent miscarriage


Input: Tumor-associated macrophage infiltration and up-regulation of tissue factor-factor VII (TF-FVIIa) complex have been observed in the peritoneum and stroma of epithelial ovarian cancer (EOC).

factor VII

epithelial ovarian cancer


Input: Furthermore, injured podocytes in murine models of disease and kidney biopsies from glomerulosclerosis patients exhibited increased RAP1GAP, resulting in diminished glomerular RAP1 activation.

glomerulosclerosis


Input: These data suggest that there is a phosphodiesterase 3A-ICER positive-feedback loop leading to myocyte apoptosis and ongoing development of heart failure after myocardial infarction.

phosphodiesterase 3A

myocardial infarction

phosphodiesterase 3A

myocardial infarction


Input: Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

usherin

Usher syndrome type IIa

usherin

Usher syndrome type IIa


Input: Additionally, FBLN-3 promoter methylation was observed to be correlated with relative poor differentiation, advanced pathological stage and lymph node metastasis of NSCLC patients (P = 0. 017, 0. 0057 or 0. 002, respectively), but not with gender, age, histological type, and smoking condition (P > 0. 05).

FBLN

lymph node metastasis


Input: Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

MYLK

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

MYLK

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome


Input: Patients with RAP had 2 to 8 episodes of pancreatitis during 3. 6-year average follow-up.

RAP

pancreatitis


Input: Moreover, presence of macroscopic residual disease was positively associated with VEGF gene expression (p = 0. 030) in patients with stage III-IV cancer.

VEGF

residual disease


Input: We aim to elucidate the function of STAT3 in esophageal carcinogenesis process and molecular mechanisms.

esophageal


Input: We have tested five unrelated individuals with CLS for mutations in nine exons of Rsk-2 using Single Strand Conformation Polymorphism (SSCP) analysis.

CLS

CLS


Input: Given that the Dandy-Walker malformation itself is not a pre-requisite to this spectrum of phenotypes, we also suggest a novel term for the NID1-associated disorder in order to give emphasis to this phenotypic variability: " Autosomal Dominant Posterior Fossa Anomalies with Occipital Cephaloceles. "

Dandy-Walker malformation

Dandy-Walker malformation


Input: Stimulation with IL-21 can induce apoptosis in follicular lymphoma (FL) cells, and existing studies have suggested that IL-21 signaling may function in tumor suppression.

follicular lymphoma


Input: Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.

GDD

GDD


Input: CD97, but not its closely related EGF-TM7 family member EMR2, is expressed on gastric, pancreatic, and esophageal carcinomas.

esophageal


Input: The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.

obese


Input: Most inclusions were positively stained with antibodies recognizing ubiquitin, proteasome, Hsc70 in transgenic lines, and some Hsc70-positive inclusions were detected in sporadic ALS cases.

sporadic


Input: PHGDH encodes the first enzyme in the phosphorylated pathway of de novo serine synthesis, and complete deficiency of its mouse ortholog recapitulates many of the key features of NLS.

PHGDH

NLS

PHGDH

NLS


Input: Performance of the colorectal cancer screening marker Sept9 is influenced by age, diabetes and arthritis: a nested case-control study.

arthritis


Input: We applied the IL-27 gene delivery protocol in vivo utilizing sonoporation (sonodelivery) with the goal of treating and reducing the growth of prostate cancer at a bone metastatic site in vivo.

prostate cancer

prostate cancer


Input: Therefore, our goal was to study the ability of CD38 to act as a surrogate marker for Ig VH somatic mutation (SM), and to identify differences in overall survival (OS), progression-free survival (PFS) and response in B-CLL patients based on these two markers.

somatic mutation


Input: We investigated the relationship of the beta 3-AR gene mutation with total body weight, BMI, central abdominal fat, blood pressure (BP), and reproductive history in 686 elderly subjects (429 women, 257 men; mean age 69. 8 +/-6. 9 [+/-SD] years) from a cross section of a normal population in Australia.

AR gene

body weight


Input: Here we provide evidence that TRIP6 promotes tumorigenesis by serving as a bridge to promote the recruitment of p27 (KIP1) to AKT in the cytosol.

tumorigenesis


Input: The current data suggested that activated RhoA promotes VEGF expression and hypoxia-induced angiogenesis through the up-regulation of MDM2 to decrease p53 stability.

VEGF

hypoxia


Input: In our study the results show that elevated levels of the wild-type PLS3, but not the PLS3 (T21A) mutant, is able to increase hyperthermia-induced CL translocation and apoptosis.

hyperthermia


Input: However, the prevalence of patients capable of maintaining normal hemoglobin (Hb) level without EPO therapy is increased in the C282Y-mutated patients.

EPO

hemoglobin


Input: We conclude that variation in ACP1 is associated with fasting insulin and insulin sensitivity in a sex-specific manner.

insulin sensitivity


Input: Prediction of Crohn' s disease aggression through NOD2/CARD15 gene sequencing in an Australian cohort.

aggression


Input: Mutations in the human PIT-1 gene lead to a combined pituitary hormone deficiency characterized by lack of GH, PRL and TSH.

pituitary hormone deficiency


Input: For APCS we found that the allele frequency in the MEF-amyloidosis patients was similar to that in 18 unrelated MEF patients without amyloidosis and their 33 healthy parents.

MEF

amyloidosis


Input: Two new neuroblastoma xenograft models, IGR-NB3 and IGR-NB8, were derived from previously untreated non-metastatic neuroblastomas.

neuroblastoma


Input: Retroviral insertional mutagenesis (RIM) is a powerful tool for cancer genomics that was combined in this study with deep sequencing (RIM/DS) to facilitate a comprehensive analysis of lymphoma progression.

RIM

lymphoma


Input: These data suggest that abnormal folding, impaired heme binding, and aggregation of mutant CBS polypeptides may be common pathogenic mechanisms in CBS deficiency.

CBS

CBS deficiency

CBS

CBS deficiency


Input: These results underscore the importance of combining data from epigenetic, transcriptomic and protein level changes to allow more comprehensive insights into the mechanisms underlying protein expression, that in our case provide additional weight to MCT2 as a candidate biomarker and molecular target in PCa.

weight


Input: CDKL5 disruption by t (X; 18) in a girl with West syndrome.

West syndrome

West syndrome


Input: We investigated the role of HIF-1alpha in glioma growth in vivo using RNA interference (RNAi) in U251, U87, and U373 glioma cells.

glioma


Input: Eighty-nine percent of CYP3A5 expressers experienced neurotoxicity versus 100% of non-expressers (P = 0. 03).

neurotoxicity

neurotoxicity


Input: Liver kinase B1 (LKB1) is a tumor suppressor, and its loss might lead to activation of the mammalian target of rapamycin (mTOR) and tumorigenesis.

tumorigenesis


Input: The current developed assay methodologies may thus be of significant use in the further elucidation of the mechanism involved in the in vivo effect of HSP90 inhibition in models of neurodegeneration.

neurodegeneration


Input: Furthermore, HCS decreased the expression of MMP-2, MMP-9 and VEGF in liver metastasis, while also reducing CA19-9 contents in serum.

HCS

liver metastasis


Input: These results suggest that TNHP is an autosomal-recessive disease caused by TRPV6 mutations that affect maternal-fetal calcium transport.

TNHP

TNHP


Input: Post-treatment with S14080 dose-dependently antagonized the hyperalgesia induced by prostaglandin E2, bradykinin, dopamine and by the hyperalgesic cytokines reported to be released by carrageenin (tumour necrosis factor alpha, interleukin-1 and interleukin-8). 3.

hyperalgesia

hyperalgesia


Input: ALK expression was not detectable in any other specimen, including all cases of HD and HD-like type ALC lymphoma as well as secondary ALC lymphomas.

ALC

secondary


Input: These findings indicate that the tumour infiltration by T-bet + Th1 lymphocytes following neoadjuvant trastuzumab-taxane may represent a new independent prognostic factor of improved outcome in HER2-overexpressing breast carcinoma.

T-bet

breast carcinoma


Input: This reduction in parasite burden in SOM (-/-) mice was accompanied by a 95% increase in size of their granulomas (P < 0. 05), which contained a 1. 5-fold increase in levels of IFN-γ and a 26-fold decrease in levels of IL-1β (P < 0. 05 for both) compared to granulomas from WT mice.

IFN

granulomas


Input: Manipulation of Hopx function in murine models is associated with cardiac hypertrophy, dilation and fibrosis.

Hopx

fibrosis


Input: In an in vitro analysis, RASFs were used to examine the expression of vasohibin-1 and VEGF mRNA by real-time PCR after stimulation with VEGF or inflammatory cytokines under normoxic or hypoxic conditions.

VEGF

hypoxic


Input: We designed this study to investigate diaphragmatic gene expression of MyoD and Myf5 in the nitrofen CDH model.

MyoD

CDH

MyoD

CDH


Input: Here we show that melusin expression was increased during compensated cardiac hypertrophy in mice subjected to 1 week pressure overload, but returned to basal levels in LV that have undergone dilation after 12 weeks of pressure overload.

melusin

dilation


Input: Our results indicate that HRI confers adaptive gene expression in developing erythroblasts during iron deficiency through maintaining Gata1/Fog1 expression.

HRI

iron deficiency


Input: t (11; 18) (q21; q21) is a characteristic chromosomal translocation in mucosa-associated lymphoid tissue (MALT) type lymphoma, and this translocation results in fusion transcript of apoptosis inhibitor 2 (API2), also known as c-IAP2, and MALT translocation gene 1 (MALT1).

translocation


Input: In order to better understand the pathogenesis of endometriosis, we have used Serial Analysis of Gene Expression (SAGE) to identify genes differentially in this disease by studying three endometriotic tissues and a normal endometrium sample.

SAGE

endometriosis


Input: Differential cerebral deposition of IDE and NEP in sporadic and familial Alzheimer' s disease.

NEP

sporadic


Input: Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes.

chromosome deletion


Input: Patients with the V617F mutation had a significantly longer duration of disease and a higher rate of complications (fibrosis, hemorrhage, and thrombosis) and treatment with cytoreductive therapy than patients with wild-type JAK2.

fibrosis


Input: BRCA1-associated tumors are characterized by an elevated genomic instability and peculiar expression profiles.

genomic instability


Input: Clinically indistinguishable ALS can be caused by genetic mutations of Cu/Zn superoxide dismutase (SOD1), TAR-DNA binding protein 43 (TDP43), or fused in sarcoma/translocated in liposarcoma (FUS/TLS), or can occur in the absence of known mutation as sporadic disease.

TLS

sporadic


Input: Data on rs7574865 in the STAT4 gene and rs9138 in SPP1 were replicated for associations with SLE when comparing cases and controls (corrected P values ranging from 0. 0043 to 0. 027).

SLE

SLE


Input: In contrast, double mutant mice (mdx/utrn (-/-)), deficient for both dystrophin and utrophin die by approximately 3 months and suffer from severe muscle weakness, growth retardation, and severe spinal curvature.

utrophin

spinal curvature


Input: Another DDR2 missense mutation, c. 2254C & gt; T (p. R752C), matching one of the previously reported SMED-SL mutations, was found in a second affected family.

SMED-SL

SMED-SL


Input: Results showed that E2 influenced on protein levels of insulin receptor substrate-1 (IRS-1) and impaired insulin-induced Ser308 phosphorylation of Akt/PKB and Ser9 phosphorylation of GSK3β in Huh7 cells, leading to an inhibition of glucose uptake and glycogen synthesis, respectively, and eventually insulin resistance.

insulin resistance


Input: In vivo, we found that administration of propranolol (25 mg kg (-1) d (-1)) for 28 days significantly attenuated the airway goblet cell metaplasia, mucus hypersecretion and MUC5AC expression of rats exposed to CS.

metaplasia


Input: There is a positive correlation of chemerin in all compartments with Quick prothrombin time and of SVS chemerin with systolic blood pressure.

chemerin

systolic blood pressure


Input: The 17p13. 3 deletion syndrome (or Miller-Dieker syndrome, MDS, MIM 247200) is characterized by lissencephaly, mental retardation and facial dysmorphism.

MIM

facial dysmorphism


Input: We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8, 224 AS and 1, 437 APA), including changes in ALS-associated genes (for example, ATXN2 and FUS), and in subjects with sporadic ALS (sALS; 2, 229 AS and 716 APA).

FUS

sporadic


Input: TNMD gene expression, tissue distribution, and TNMD gene expression in adipose tissue from different depots, from lean and obese subjects, and during diet-induced weight reduction were analyzed by DNA microarray and real-time PCR.

TNMD gene

weight reduction


Input: We sequenced all exons of the EPO gene in 60 children with pollinosis and their parents using the PCR-restriction fragment length polymorphism method.

EPO gene

pollinosis


Input: As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe.

heterotopia


Input: We conclude that D19A, D22G, K23R and K23_I24insIDK form a mechanistically distinct subset of hereditary pancreatitis-associated mutations that exert their effect primarily through direct stimulation of autoactivation, independently of CTRC.

CTRC

hereditary pancreatitis

CTRC

hereditary pancreatitis


Input: The identification of a substitution in the 3' UTR of the gene associated with a mild form of NC-CAH suggests the importance of analyzing the CYP21A2 untranslated regions to better characterize and treat this subgroup of patients.

mild


Input: FOXP3 gene polymorphisms in preeclampsia.

FOXP3 gene

preeclampsia


Input: These results suggest that PECAM-1 plays a role in the pathophysiology of high-functioning autism.

autism

autism


Input: We also detected a biased PER2 genotype distribution among healthy controls and cocaine-addicted individuals.

cocaine-addicted

cocaine-addicted


Input: Mutations in the Pit-1 gene account for a form of combined pituitary hormone deficiency for GH, Prolactin (Prl) and TSH (CPHD).

pituitary hormone deficiency


Input: Substantial evidence indicates that inherited defects in this enzyme lead to methylmalonyl aciduria, but the corresponding ATR gene has not been identified.

ATR gene

aciduria


Input: In type 2 diabetes, the Ala allele protects from worsening albuminuria and new-onset microalbuminuria, and ACE inhibition blunts the excess risk of microalbuminuria associated with the Pro/Pro genotype.

ACE

microalbuminuria


Input: Among them, ras-related protein rab-13 (RAB13), neuroblastoma breakpoint family member 10 (NBPF10) and disks large homologue 4 (DLG4) were found to be involved in GBM for the first time.

neuroblastoma


Input: In vitro, stimulation with VEGF induced the expression of vasohibin-1 mRNA in RASFs under normoxic conditions, and stimulation with cytokines induced vasohibin-1 mRNA expression under a hypoxic condition.

VEGF

hypoxic


Input: Proportionate NR1 (1XX) expression in AD cingulate and temporal cortex was lower at younger ages and increased with age: this regression was significantly different from that in the homotropic areas of controls.

regression


Input: Kaplan-Meier method and multivariate Cox regression model were used to evaluate the prognostic value of nuclear Sam68 expression in NSCLC for disease survival.

regression


Input: Additionally, the predictive value of intra-tumoural TS-, TP-, and DPD-gene expression in pre-operative rectal tumour biopsies was assessed by correlation with the histopathological regression grade.

DPD

regression


Input: Most importantly, the possibility of PGLs (Carney-Stratakis dyad) and/or pulmonary chondroma (Carney triad) should be addressed in these patients and their kindred.

PGLs

pulmonary chondroma


Input: We have re-sequenced exons and putative promoter region of ROCK2 in up to 30 pre-eclampsia patients and 22 controls and genotyped putative functional single-nucleotide polymorphisms (SNPs) as well as tagging SNPs from HapMap in a Finnish case-control data set-340 affected and 357 matched control individuals-for a genetic association study of ROCK2 in pre-eclampsia.

pre-eclampsia


Input: We investigated 11 patients with the dyad of' paraganglioma and gastric stromal sarcoma'; in eight (from seven unrelated families), the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively).

SDHB

paraganglioma and gastric stromal sarcoma

SDHB

paraganglioma and gastric stromal sarcoma


Input: VEGF-induced by hypoxia is very important for the early stages of forming polyps.

VEGF

hypoxia


Input: The t (11; 18) translocation, fusing the API2 and MALT1 genes, is one of the most frequent chromosomal translocations associated with mucosa-associated lymphoid tissue (MALT) lymphomas.

translocation


Input: The study purpose was to verify the implication of hypoxia in the myoblast death observed after their transplantation and also to evaluate the potential beneficial effects of vascular endothelial growth factor (VEGF) overexpression on myoblast engraftment in a murine model.

VEGF

hypoxia


Input: Animal studies have demonstrated the importance of orexigenic NPY and agouti-related protein (AGRP) hypothalamic neurons, which are inhibited by the adipocyte hormone leptin, in the regulation of body weight and neuroendocrine secretion.

NPY

body weight


Input: In contrast, artemin, GDNF, GFRalpha1-3 and Ret RNA expression were strongly upregulated in the auditory nerve following deafness, indicating their importance in protecting the auditory nerve against cell damage.

artemin

deafness


Input: RER (+) phenotype in prostate intra-epithelial neoplasia associated with human prostate-carcinoma development.

RER

carcinoma


Input: We recently reported increased sphingosine kinase 1 (SPHK1) and decreased neutral sphingomyelinase 2 (NSMase2) gene expression in myelodysplastic syndromes and acute leukemia.

neutral sphingomyelinase

myelodysplastic syndromes


Input: This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.

FUS

sporadic


Input: Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.

JRK

JME

JRK

JME


Input: The t (17; 22) (q22; q13. 1) translocation generates a gene fusion between COL1A1 and PDGFB, which serves as a diagnostic marker of DFSP.

translocation


Input: The expression levels of CO I and ND4 were higher in the diffused type of gastric cancer than in the intestinal type (P = 0. 024 and P = 0. 0002, respectively).

gastric cancer


Input: DAP kinase and DAP kinase-interacting protein 1 (DIP-1) localized to mitochondria in control brain, whereas levels of both were increased in the cytoplasm and microsomal (endoplasmic reticulum) fraction in epilepsy samples.

kinase-interacting protein 1

epilepsy


Input: The expression of the prodynorphin mRNA was currently studied in the amygdaloid complex, a brain region critical for emotional processing, in subjects (14-15 per group) diagnosed with major depression, bipolar disorder, or schizophrenia and compared to normal controls.

prodynorphin

depression, bipolar


Input: All viral load parameters showed significant decreases from baseline within 1 week of initiation of zidovudine, as measured by standard p24 antigen assay, ICD p24 assay, and QC-PCR.

viral load


Input: In addition, DDX3 was shown to be a direct downstream target of HIF-1α (the master regulatory of the hypoxia response) in breast cancer cell lines.

hypoxia


Input: A region of the VEGF promoter between-420 and-90 bp mediated this HIF-independent induction by hypoxia.

VEGF

hypoxia


Input: We show that abrogation of galectin-4 expression promotes cancer cell proliferation and, for the first time, provide evidence that down-regulation of galectin-4 elicits tumor promotion in vitro and in vivo through activation of IL-6/NF-κB/STAT3 signaling.

NF-κB

tumor promotion


Input: Rapamycin administration at 0. 8 mg/kg/day for 7 days resulted in enhanced atrophy and attenuated the phosphorylation of ERK1, STAT3, and p70S6K without altering gene expression.

atrophy

atrophy


Input: A single kinase, CK2, in D1-MSNs significantly alters dopamine signaling, a finding that could have therapeutic implications for disorders characterized by dopamine imbalance such as Parkinson' s disease, attention-deficit/hyperactivity disorder, and schizophrenia.

schizophrenia

schizophrenia


Input: Moreover, c-FLIP (L) knockdown partly restored TRAIL sensitivity in G1 cells, indicating that the expression level of c-FLIP (L) and its interaction with TRAIL receptor2 play a crucial role in determining TRAIL resistance in metastatic melanoma cells.

TRAIL

metastatic melanoma


Input: We report reductions in somatostatin and vasoactive intestinal peptide mRNAs in prefrontal and orbitofrontal cortices in bipolar disorder (n = 31) and schizophrenia (n = 35) compared to controls (n = 34) and increased calbindin mRNA in schizophrenia.

somatostatin

bipolar disorder

somatostatin

bipolar disorder


Input: This suggests that the LKB1 gene may be related to the tumorigenesis of breast cancer.

tumorigenesis


Input: Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency.

factor XI

chronic myelomonocytic leukaemia


Input: Taken together, this study identifies a novel signaling mechanism mediated by FAT1 in regulating the activity of PDCD4 and thereby the key transcription factor AP-1, which then affects known mediators of neoplasia and inflammation.

inflammation


Input: This translocation leads to constitutive activation of the BCL2 oncogene by the enhancers of the immunoglobulin heavy-chain locus.

translocation


Input: Our studies strongly demonstrated that E2F-1 induces melanoma cell apoptosis via PUMA up-regulation and Bax translocation.

PUMA

translocation


Input: Of these, thickness, male sex, dense freckling, low nevus density on the back, histologic subtype and history of nonmelanoma skin cancer appeared to be independently associated with strong p53 staining.

freckling


Input: Apigenin also impeded hypoxia-mediated induction of GLUT-1 and VEGF mRNA in both cell lines (P < 0. 05).

VEGF

hypoxia


Input: Gene expression correlation analysis showed that genes involved in the mevalonate pathway and unsaturated fatty acid synthesis were negatively correlated with the expression of EGFR, MET and other growth factor receptor genes, as well as with the expression of genes involved in cell migration and adhesion.

EGFR

adhesion


Input: Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases.

SPAST

SPAST


Input: An Interaction with Ewing' s Sarcoma Breakpoint Protein EWS Defines a Specific Oncogenic Mechanism of ETS Factors Rearranged in Prostate Cancer.

EWS

Prostate Cancer

EWS

Prostate Cancer


Input: This clearly indicates that HIF-1 not only regulates hypoxia-induced VEGF-A production but also mediates at least in part the effects of growth factors and DEX on VEGF-A synthesis and release.

VEGF-A

hypoxia


Input: Fluorescent in situ hybridization with probes to Ig heavy chain gene and to the oncogene bcl-2 demonstrated a translocation of bcl-2 to the immunoglobulin heavy chain locus on chromosome 14.

translocation


Input: In the absence of laforin, water-soluble glycogen becomes insoluble, leading to the neurodegenerative disorder Lafora Disease.

laforin

Lafora Disease

laforin

Lafora Disease


Input: The activity of vesicle-associated cathepsin B measured using Z-Arg-Arg-pNA as substrate was significantly increased at acidic pH values.

cathepsin B

vesicle


Input: Cysteine-rich 61/connective tissue growth factor/nephroblastoma overexpressed (CCN) 3 has been recently reported to play a role in regulating inflammation of vascular endothelial cells.

connective tissue growth factor

inflammation


Input: However, the increased amount of c-Myc found in Burkitt' s lymphoma cell lines did not lead to increased cad mRNA levels.

c-Myc

cad


Input: A high expression of AT2 may accelerate the apoptosis of cardiomyocytes in diabetic rats and play a role in precipitating diabetic cardiomyopathy; taurine may protect diabetic rats from developing cardiomyopathy also by downregulating AT2 receptors.

diabetic cardiomyopathy

diabetic cardiomyopathy


Input: A novel p. Pro186Arg mutation in CHST6 is associated with MCD type II in an African American.

MCD

MCD


Input: Combining the crucial role that zinc plays in cell growth and the proven role of metalloproteases in metastasis presents an exciting indication of how LIV-1 plays a role in breast cancer progression.

metastasis

metastasis


Input: These stimulate sensory neurons from mice and generate visceral hypersensitivity via activation of TRPV4.

hypersensitivity


Input: Myopia was defined as spherical equivalent, equal to or worse than-0. 50 Diopters (D) RESULTS: A total of 1224 twins (690 monozygotic twins and 534 dizygotic twins) aged between 18 to 86 years (mean age = 52. 36 years) were recruited into the GEM study.

GEM

dizygotic twins


Input: In tongue cancer patients, pretherapeutic C-myc mRNA expression was significantly higher as compared to controls.

C-myc

tongue cancer


Input: Fetuses with GSTT1 (del) had a mean birth weight reduction among smokers of 262 g (P =. 01), whereas in fetuses without the GSTT1 (del) the effect of tobacco exposure was nonsignificant (mean reduction 87 g, P =. 16).

weight reduction


Input: In conclusion, overexpression of FXYD3 in pancreatic cancer may contribute to the proliferative activity of this malignancy.

pancreatic cancer

pancreatic cancer


Input: Children with autism/ASD had significantly higher levels of many growth-related hormones: IGF-1, IGF-2, IGFBP-3 and GHBP.

autism

autism


Input: Paravertebral muscle R2 * was positively associated with body mass index, waist circumference, and fat mass (measured by dual-energy x-ray absorptiometry) in parallel with hepatic iron content, serum ferritin, and hepcidin.

hepcidin

waist circumference


Input: We identified for the first time a homozygous point mutation in STRADA causing PMSE.

STRADA

PMSE

STRADA

PMSE


Input: Previous reports have implicated ADAMTS7 in the regulation of vascular smooth muscle cell migration, but a role for and the direction of impact of this gene in atherogenesis have not been shown in relevant model systems.

atherogenesis


Input: Tissue microarrays contained primary cancer, normal stomach, intestinal metaplasia, and gastric epithelial dysplasia and were probed with antibodies against nine potential markers that were either identified in a database of genes overexpressed in gastric adenocarcinoma or were already of interest to our laboratory: claudin-4, mitogen-activated protein kinase kinase 4 (MKK4), 14-3-3sigma (stratifin), S100A4, mesothelin, fascin, topoisomerase IIalpha, HER-2/neu, and epithelial growth factor receptor.

intestinal metaplasia


Input: One TLS patient died of intracerebral hemorrhage on day 10 and another patient of multiorgan failure on day 17.

TLS

multiorgan failure


Input: As well as cystatin C, urinary β2-microglobulin, clusterin, GST-α, GST-μ, KIM-1, and NGAL also had the potential to detect renal damage associated with anti-GBM glomerulonephritis.

NGAL

glomerulonephritis


Input: In this preclinical study, the potential of synthetic androgen 7α-methyl-19-nortestosterone (MENT) as alternative treatment for male hypogonadism was evaluated in comparison with T. Eleven-month-old male rats were orchidectomized (orch) and left untreated for 2-months.

MENT

male hypogonadism


Input: Taken together, these data indicated that PARP-1 inhibition attenuated the poly (ADP-ribosyl) ation of Sp1 and significantly increased the expression of Sp1 target genes, resulting in G0/G1 cell cycle arrest and the decreased proliferative ability of the hepatoma cells.

hepatoma


Input: The Pro (7) in NPY was detected in 14% of Finns but only in 6% of Dutchmen, and its impact on serum cholesterol concentration seems to be stronger in obese than in normal-weight subjects.

NPY

weight


Input: The CXCR4 ligand CXCL12 (10 ng/mL) doubled secreted VEGFA, measured with ELISA, under hypoxic conditions and this conditioned media increased human umbilical vein endothelial cell tube formation.

VEGFA

hypoxic


Input: Recurrent seizures associated with the chronic phase of epilepsy coincided with the accumulation of mtDNA damage, increased mitochondrial H2O2 levels, decreased expression of Ogg1 and Pol gamma and impaired mtDNA repair capacity.

epilepsy


Input: ALX4 was readily expressed in normal lung tissues with an unmethylated status, but downregulated or silenced in 90% (9/10) of lung cancer cell lines with a hypermethylation status.

lung cancer

lung cancer


Input: Here, we report that the cold-sensing transient receptor potential melastatin 8 (TRPM8) is functionally present in mouse BAT.

cold


Input: In this study, we investigated the associations of polymorphisms in glutathione-S-transferases (GSTs) genes that are GSTM1, GSTT1, and GSTP1, with sporadic colorectal cancer (CRC).

sporadic


Input: In 22 muscles from dysferlinopathy patients we investigated fiber atrophy by morphometry and ubiquitin-proteasome and autophagic pathways using protein and/or transcriptional analysis of atrophy-and autophagy-related genes (MuRF1, atrogin1, LC3, p62, Bnip3).

atrophy


Input: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c. 936 + 919G & gt; A (IVS4 + 919G & gt; A).

GLA

Fabry disease

GLA

Fabry disease


Input: The frequencies for the GSTM1 null genotype were 58%, 45%, and 60% for pre-eclampsia, eclampsia, and HELLP syndrome, respectively, and in controls it was 55%.

pre-eclampsia


Input: Initial screening for mutations in the gene for Rsk-2 in 76 unrelated CLS patients revealed one intragenic deletion, a nonsense, two splice site, and two missense mutations.

CLS

CLS


Input: The increase of serum chemerin concentration is mainly associated with the increase of body mass index in obese, non-diabetic subjects.

chemerin

body mass index


Input: We measured secretion of the pro-fibrotic cytokine, interleukin-6 (IL-6), and the pro-inflammatory cytokines, IL-8 and monocyte chemotactic protein 1, before and after mechanical strain in bronchial fibroblasts obtained from asthmatic patients [asthmatic bronchial fibroblasts (BAF)] and normal volunteers [normal bronchial fibroblasts (BNF)], and in nasal fibroblasts (NF) obtained from nasal polyps.

BAF

nasal polyps


Input: A correlation between the promoter methylation status and viral infection, although it was weak, intimated that hepatitis viral infections could play a role in the CpG methylation of the MGMT promoter.

MGMT

viral infections


Input: The MCL1 gene, recently identified in a myeloid leukemia cell line, has sequence similarity to BCL2, the gene at the t (14; 18) translocation in follicular lymphoma.

MCL1 gene

translocation


Input: Eighteen members (35 to 77 years) of a large German family underwent MR scanning with a standardized MRI protocol for cerebrovascular diseases.

MRI

cerebrovascular diseases


Input: Fusion protein RUNX1-ETO (AML1-ETO, RUNX1-RUNX1T1) is expressed as the result of the 8q22; 21q22 translocation [t (8; 21)], which is one of the most common chromosomal abnormalities found in acute myeloid leukemia.

translocation


Input: The positive expression of FAK correlated notably with lymph node metastasis and cellular differentiation.

FAK

lymph node metastasis


Input: The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2).

schizophrenia

schizophrenia


Input: AML1 is involved in the (8; 21) translocation, associated with acute myelogenous leukemia (AML)-type M2, which results in the production of the AML1-ETO fusion protein: the amino-terminal 177 amino acids of AML1 and the carboxyl-terminal 575 amino acids of ETO.

translocation


Input: Mid1 expression in undifferentiated cells in the central nervous, gastrointestinal and urogenital systems suggests that abnormal cell proliferation may underlie the defect in midline development characteristic of Opitz syndrome.

nervous


Input: A regression model that included APOA1 gene expression and microbial abundance more accurately predicted month 6 steroid-free remission than a model using clinical factors alone.

APOA1 gene

regression


Input: In general, BGL enhanced but LPS exposure decreased primary immune responses at 7 wk of age, whereas both PAMP-enhanced secondary immune responses but decreased primary immune responses at 13 wk of age.

BGL

secondary


Input: In metastatic carcinoma surgical samples, there was a marked increased expression of SRF as compared to expression in primary colorectal carcinoma surgical samples (P < 0. 05).

SRF

colorectal carcinoma


Input: This genotypic variant may be a useful biomarker for early-onset MMD or unstable MMD with cerebral infarction, which requires early diagnosis and revascularization treatment.

MMD

cerebral infarction


Input: After subcutaneous injection of B16 melanoma cells, primary tumor growth as well as neovascularization was markedly reduced in mice lacking one copy of the Foxc2 gene (Foxc2 +/-).

Foxc2 gene

neovascularization


Input: We suggest that increased ADM expression in PBL after acute ischemic stroke is most likely to indicate that these cells have been subjected to hypoxia and that the magnitude of expression is likely to be related to the volume of hypoxic tissue.

ADM

hypoxic


Input: Genetic variation of glucose transporter-1 (GLUT1) and albuminuria in 10, 278 European Americans and African Americans: a case-control study in the Atherosclerosis Risk in Communities (ARIC) study.

albuminuria


Input: Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

CDGS

Jaeken syndrome

CDGS

Jaeken syndrome


Input: High-resolution orbital magnetic resonance imaging (MRI) was used to investigate the structural basis of ocular motility abnormalities in humans with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) due to missense mutations in the developmental kinesin KIF21A.

abnormalities


Input: Eight network 2 genes (KIAA0101, HDAC2, SUMO1, RBBP4, NONO, RBBP7, HTRA2, and MTA2) were significantly differentially expressed in an array of 18 different sarcoma types.

sarcoma


Input: In addition, intraventricular administration of TRH, LHRH or LH caused tachycardia, hypertension and a reduction in the epinephrine-induced reflex bradycardia.

TRH

tachycardia

TRH

tachycardia


Input: Taken together, these findings suggest a role of FTKs in causing disease progression in MPDs by inducing chromosomal instability through the production of DSBs and stimulation of SSA repair.

SSA

chromosomal instability


Input: Systemic FasL and TRAIL neutralisation reduce leishmaniasis induced skin ulceration.

TRAIL

skin ulceration


Input: Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.

keratin 2e

Ichthyosis bullosa of Siemens

keratin 2e

Ichthyosis bullosa of Siemens


Input: Vernolide-A inhibits radiation-induced hypoxia-mediated tumor angiogenesis by regulating HIF-1α, MMP-2, MMP-9, and VEGF.

VEGF

hypoxia


Input: We demonstrate that TPL2 deletion does not alter body weight gain or adipose depot weight.

weight


Input: Previously we showed that two sisters with GGM had a missense mutation in the SGLT1 gene.

GGM

GGM


Input: To analyze the genetic features of sporadic NFLE, we designed mutation screening of exon 5 of CHRNA4, exon 5 of CHRNB2, and exon 6 of CHRNA2, mutations in which are associated with ADFLE.

sporadic


Input: We explored genetic variability at the PCK1 gene locus in relation to degree of insulin resistance and plasma fatty acid levels in MetS subjects.

PCK1 gene

insulin resistance


Input: We investigated the importance of BRN2 in the expression of the lineage-specific transcription factors (achaete-scute homolog-like 1 (ASCL1) and NeuroD1 (ND1)) and neural/neuroendocrine marker molecules (neural cell adhesion molecule 1 (NCAM1), synaptophysin (SYP) and chromogranin A (CHGA)) in small cell lung cancer (SCLC) using cultured lung cancer cells.

small cell lung cancer


Input: Immunohistochemical analysis led to the following conclusions: (1) specific pattern of MAP2-positive tumor cells can be identified in 95% of glial neoplasms; (2) ependymal tumors do not express MAP2 in their rosette-forming cell component; (3) tumors of the pineal gland as well as malignant embryonic tumors are also characterized by abundant MAP2 immunoreactivity; (4) virtually no MAP2 expression can be observed in the neoplastic glial component of glio-neuronal tumors, i. e.

tumors


Input: These provocative findings are intensifying interest in AEG-1 as a crucial regulator of tumor progression and metastasis and as a potential mediator of neurodegeneration.

neurodegeneration


Input: In multiple sclerosis (MS), beta-adrenergic receptor densities on peripheral blood mononuclear cells are enhanced, while the astrocytes present in plaques lack beta2 adrenergic receptor (beta2AR) expression.

multiple sclerosis


Input: ADNP haploinsufficiency in mice, which results in age-related neuronal death, cognitive and social dysfunction, exhibited reduced hippocampal beclin1 and increased Bcl2 expression (mimicking schizophrenia and normal human aging).

schizophrenia

schizophrenia


Input: HLTF expression was conserved in the HKT-1097 cell line established from kidney tumors, but again only 10% of positive cells were found in xenografts produced by HKT-1097 cells in nude mice.

HLTF

kidney tumors

HLTF

kidney tumors


Input: LS and SIJ involvement may occur simultaneously in very early SpA and may be differentiated from non-inflammatory back pain by the severity of MRI lesions.

MRI

back pain


Input: Atherogenesis in transgenic mice expressing human apolipoprotein (a)

apolipoprotein (a

Atherogenesis

apolipoprotein (a

Atherogenesis


Input: [Combination therapy with 5-fluorouracil (5-FU), cisplatin (CDDP) and interferon alpha-2B (IFN alpha-2B) for advanced renal cell carcinoma].

interferon alpha-2B

renal cell carcinoma

interferon alpha-2B

renal cell carcinoma


Input: The neoplastic cells expressed monocyte/macrophage-specific marker CD68 (KP-1) and lysozymes and the dendritic cell-associated antigens CD35 and Fascin but was negative for CD1a, CD21, and CD23, most consistent with a diagnosis of FDC sarcoma.

sarcoma


Input: Thus, Gas6 enhances platelet degranulation and aggregation responses through its known receptors, promoting platelet activation and mediating thrombus formation such that its inhibition prevents thrombosis without increasing bleeding.

thrombus

thrombus


Input: Neurons with adenovirus-mediated overexpression of GRP94 were resistant to ischemic damage.

adenovirus


Input: MT1-MMP is a transmembrane member of the MMP family that has been demonstrated to be upregulated as prostate cancer progresses from normal to prostate intraepithelial neoplasia to invasive cancer, suggesting a role for MT1-MMP in the invasion of prostate cancer.

intraepithelial neoplasia


Input: Adaptive responses within hypoxic tumor microenvironments require the altered expression of Solute Carrier (SLC) transporters to maintain nutrient uptake in support of cellular metabolism and biosynthesis.

SLC

hypoxic


Input: Derivative (22) t (3; 22) (q12; p11. 1) in desmoplastic medulloblastoma.

desmoplastic medulloblastoma


Input: Dominant optic atrophy in Denmark-report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Dominant optic atrophy

Dominant optic atrophy


Input: LY294002 suppressed the heat-induced accumulation of heat shock protein 27 (hsp27) and heat shock protein 72 (hsp72) in these cell lines.

shock


Input: Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor.

erythropoietin receptor

familial polycythaemia

erythropoietin receptor

familial polycythaemia


Input: To discover the secretome that influences lung adenocarcinoma metastasis, the hollow fiber culture (HFC) system was used along with label-free proteomics approach to analyze cell secretomes between CL1-0 and CL1-5 cell lines, which exhibit low and high metastatic potentials.

lung adenocarcinoma


Input: This study indicates that MEX exert a pleiotropic protective effect on the lung and inhibit pulmonary hypertension through suppression of hyperproliferative pathways, including STAT3-mediated signaling induced by hypoxia.

MEX

pulmonary hypertension


Input: Alterations of the APC and wild-type p53 tumor suppressor genes in OSF may imply a risk for progression to oral cancer.

OSF

oral cancer


Input: Our results demonstrate that Lcn2 protects against intestinal inflammation and tumorigenesis associated with alterations in the microbiota.

tumorigenesis


Input: We present an unusual case of a boy with clinical features of both POH and PHP Ia, and a GNAS inactivating mutation.

GNAS

POH

GNAS

POH


Input: Oxyntomodulin (OXM), a 37-amino acid peptide hormone of the glucagon (GCG) family with dual agonistic activity on both the GLP-1 (GLP1R) and the GCG (GCGR) receptors, has been shown to reduce food intake and body weight in humans, with a lower incidence of treatment-associated nausea than GLP-1 mimetics.

GCG

body weight


Input: The serine protease inhibitor BCX 1470, which blocks the esterolytic and hemolytic activities of the complement enzymes Cls and factor D in vitro, also blocked development of RPA-induced edema in the rat.

factor D

edema


Input: Our results demonstrated that PCO induction resulted in elevation of chemerin mRNA and protein levels in ovary in concomitant with incidence of insulin resistance and increasing androgen and progesterone production.

chemerin

insulin resistance


Input: we measured TFPI activity in plasma before and 10 min after intravenous injection of 7500 IU unfractionated heparin in 64 young patients with venous thrombosis, 49 young patients with arterial thrombosis and 38 healthy individuals.

TFPI

arterial thrombosis


Input: RESULTS: CONCLUSIONS: SNCG, MAP2, SDF-1 and CXCR4 may play an important role in the carcinogenesis, progression, invasion and metastasis of gastric adenocarcinoma.

SNCG

gastric adenocarcinoma


Input: It therefore appears that in NHL it is possible for MYCN, like MYC in Burkitt lymphoma, to be activated as a result of a chromosome translocation event.

MYCN

chromosome translocation


Input: Programmed electrical stimulation (PES) was performed in all affected members, which revealed a remarkably short atrial and ventricular refractory period, and inducibility of atrial and ventricular fibrillation.

PES

ventricular fibrillation


Input: Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.

heart disease


Input: This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes.

KS

KS


Input: The OLR1 gene encodes the oxidized low-density lipoprotein receptor (LOX-1), which is responsible for the cellular uptake of oxidized LDL (Ox-LDL), foam cell formation in atheroma plaques and atherosclerotic plaque rupture.

atheroma


Input: We therefore confirm DPC4 as a cause of JPS, but show that there is considerable remaining, uncharacterized genetic heterogeneity in this disease.

JPS

JPS


Input: Both groups underwent colour Doppler transthoracic echocardiography to detect MVP and the following laboratory work-up: plasma prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, protein C, protein S, homocysteine, lupus anticoagulant, von Willebrand factor (vWF) ristocetin cofactor activity, immunoglobulins (Ig) G and M anticardiolipin antibodies (aCL).

von Willebrand factor

lupus anticoagulant


Input: Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

Bart-Pumphrey syndrome

Bart-Pumphrey syndrome


Input: This study tests the primary hypothesis that blocking the bradykinin B (2) receptor would attenuate protamine-related hypotension.

bradykinin

hypotension

bradykinin

hypotension


Input: The CNP-NPRB system may play a crucial role in the development of cardiovascular disease.

CNP

cardiovascular disease


Input: Blockade of GLP-1 receptors failed to suppress subjective satiety following a standardized meal or increase voluntary food intake in healthy, normal-weight subjects.

weight


Input: While in vitro, following release from serum starvation of HuH7 HCC cell, the expression of Nek6 was upregulated.

HCC

starvation


Input: EGFR expression was inversely associated with response to induction chemotherapy (IC) (P =. 01), chemotherapy/radiotherapy (CRT; P =. 055), overall survival (OS; P =. 001), and disease-specific survival (DSS; P =. 002) and was directly associated with current smoking (P =. 04), female sex (P =. 053), and lower HPV titer (P =. 03).

EGFR

smoking


Input: Adiponectin negatively regulates the progression of gastric cancer cells possibly through both AdipoR1 and AdipoR2.

gastric cancer


Input: Effectiveness of IFN-gamma for liver abscesses in chronic granulomatous disease.

IFN

chronic granulomatous disease


Input: Low expression of p27, a cell cycle regulator haplo-insufficient for tumor suppression, predicted poor outcome in indolent and aggressive lymphoma, and overexpression of cyclin D3 was associated with poor prognosis in indolent lymphomas.

cyclin D3

aggressive lymphoma


Input: Our study is the first that confirms that traits and characteristics related to neuroticism, such as increased anxiety, depression, hopelessness, somatization, feeling of guilt, hostility, aggression, lack of self-directedness and affective temperament are consistently and independently associated with the 5-HTTLPR polymorphism of the serotonin transporter gene.

serotonin transporter

aggression


Input: A T-to-C missense mutation at nucleotide position 9, 185 in the protein-coding ATP6 gene of the mitochondrial genome was present at high heteroplasmy in members of a Canadian family with Leigh syndrome with predominant ataxia and peripheral neuropathy.

Leigh syndrome

Leigh syndrome


Input: Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

alpha-mannosidosis

alpha-mannosidosis


Input: ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

Cutis Marmorata Telangiectatica Congenita

Cutis Marmorata Telangiectatica Congenita


Input: The expression of epidermal growth factor receptor (growth), basic fibroblast growth factor [(bFGF), angiogenesis], type IV collagenase (invasion), E-cadherin (adhesion), and multidrug-resistant (mdr)-1 (drug resistance) mRNA was examined using an in situ mRNA hybridization (ISH) technique and Northern blot analysis.

epidermal growth factor receptor

adhesion


Input: Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women.

parathyroid hormone gene

bone mineral density


Input: Tumor cells are reactive for CD34 and characterized by a t (17; 22) translocation or a supernumerary ring chromosome that results in the fusion of exon 2 of PDGFB to various exons of the COL1A1 gene.

PDGFB

translocation


Input: Null mutations of the Artemis gene result in a complete absence of T and B lymphocytes that is associated with increased cell radiosensitivity, causing the radiosensitive T (-) B (-) SCID (RS-SCID) condition.

Artemis

RS-SCID

Artemis

RS-SCID


Input: MEN2A represents more than 50% of all MEN2 cases, having a regular pattern with medullary thyroid carcinoma (MTC) incidence of 90-100%, bilateral pheochromocytoma (PCC) incidence of 40-50% and primary hyperparathyroidism (HPT) incidence of 10-25%.

HPT

medullary thyroid carcinoma


Input: Real-time PCR and Western blot analysis were performed to detect Notch-1, Notch-2, Notch-3 and Notch-4 receptor expression in breast cancer cells when PEA3 was knocked down by siRNA.

breast cancer

breast cancer


Input: The developed hypoxic state may upregulate the synthesis of VEGF and thereby eNOS.

VEGF

hypoxic


Input: Here, we report a rare case of therapy-related acute myeloid leukemia with PDGFRA rearrangement after chemotherapy for prior B lymphoblastic leukemia (B-ALL).

PDGFRA

B-ALL

PDGFRA

B-ALL


Input: We identify two new susceptibility loci at 11p11. 2 (DDB2, rs747650, P (combined) = 4. 41 × 10 ⁻ ⁹ and rs1060573, P (combined) = 1. 28 × 10 ⁻ ⁸) and 1q24. 2 (SELL, rs7531806, P (combined) = 1. 20 × 10 ⁻ ⁸) that are involved in androgen metabolism, inflammation processes and scar formation in severe acne.

SELL

scar


Input: We compared the FMR1 genotype and sub-genotype distribution in 99 BRCA1/2 positive women and in 182 healthy women without a known history of familial breast and ovarian cancer and searched for associations with age at menarche and menopause.

age at menarche


Input: This demonstrates that a mutation in a type V collagen gene, COL5A1, results in EDS type I, and shows the involvement of L1 sequences in a constitutional chromosomal translocation.

chromosomal translocation


Input: OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

autosomal dominant optic atrophy

autosomal dominant optic atrophy


Input: We report the phenotypic characteristics and natural history of 4 adults with severe, progressive OI characterized by numerous fractures, short stature with rhizomelic shortening, and deformity of the limbs and variable kyphoscoliosis, in whom we identified novel biallelic missense and frameshift mutations in BMP1.

short stature


Input: A total of 19 hereditary nonpolyposis colorectal cancer (HNPCC), 86 suspected HNPCC, and 246 sporadic colorectal cancer cases were investigated for OGG1 and MYH mutations.

hereditary nonpolyposis colorectal cancer


Input: Transforming growth factor-beta (TGF-beta) inducible early gene 1 (TIEG1) is known to induce apoptosis in TGF-beta sensitive pancreatic cancer cells, yet its effect on TGF-beta resistant cancer cells remains unclear.

TGF-beta

resistant cancer


Input: Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.

neutrophil immunodeficiency syndrome

neutrophil immunodeficiency syndrome


Input: The chemokine stromal cell-derived factor (SDF-1; also known as chemokine ligand 12 [CXCL12]) regulates many essential biological processes, including cardiac and neuronal development, stem cell motility, neovascularization, angiogenesis, apoptosis, and tumorigenesis.

tumorigenesis


Input: These data suggest that BAG1 plays a key role in affective resilience and in regulating recovery from both manic-like and depression-like behavioral impairments.

depression

depression


Input: Analysis of five glioma cell lines (U87, U251, U373, MZ-54 and MZ-18) indicated that only two of the cell lines were sensitive to apoptosis induced by TRAIL alone.

glioma


Input: In this study, we explored the relationship between HER2 and inflammation, comparing the effects of overexpressing wild-type or mutated inactive forms of HER2 in primary human breast cells.

inflammation


Input: SS RBC adhesion to laminin increases in response to adrenaline stimulation of beta (2)-adrenergic receptors (beta (2) ARs) and adenylate cyclase (ADCY6), and previous evidence suggests such activation occurs in vivo.

adhesion


Input: Screening for tHcy and related factors should be further evaluated in regions with high prevalence of homocystinuria and in babies at high risk of B12 deficiency.

homocystinuria


Input: Similar anorectic effects were observed following acute administration of exogenous TNF-& #945; and IL-1 & #946;.

TNF

anorectic

TNF

anorectic


Input: The c-Jun NH (2)-terminal kinase (JNK) is a critical determinant of obesity-associated inflammation and glucose intolerance.

c-Jun

inflammation


Input: Connective tissue growth factor (CTGF) is a matricellular protein involved in inflammation, tumour growth and angiogenesis.

CTGF

inflammation


Input: These findings demonstrate that MALAT1 is a metastasis-suppressing lncRNA rather than a metastasis promoter in breast cancer, calling for rectification of the model for this highly abundant and conserved lncRNA.

breast cancer

breast cancer


Input: However, following pretreatment with alpha CRF (9-41), MABP returned to control values within 3 min and the sustained period of hypotension was completely blocked.

CRF

hypotension

CRF

hypotension


Input: Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

GNPTAB

mucolipidosis II alpha/beta

GNPTAB

mucolipidosis II alpha/beta


Input: Family-based genetic association analysis was employed to investigate the contribution of MYBPH in modifying hypertrophy.

MYBPH

hypertrophy


Input: Synaptic fatigue is more pronounced in the APP/PS1 transgenic mouse model of Alzheimer' s disease.

fatigue


Input: Prenatal cannabis exposure was significantly associated with increased mu receptor expression in the amygdala, reduced kappa receptor mRNA in mediodorsal thalamic nucleus and reduced preproenkephalin expression in the caudal putamen.

preproenkephalin

cannabis

preproenkephalin

cannabis


Input: The role of CSF2RA and IL3RA haploinsufficiency in linear growth and final adult stature is discussed.

stature


Input: We tested whether the null genotypes for GSTM1 and GSTT1 genes altered the risk for sporadic colorectal adenocarcinoma in Brazilian patients.

sporadic


Input: Human glioma U251 cells (harboring the mutant type p53 gene) and U87 cells (harboring the wide type p53 gene) were irradiated with X-rays.

glioma


Input: We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN.

PTEN

LDD

PTEN

LDD


Input: Recent retrospective studies of heterogeneously treated patients have suggested that chromosomal aberrations of the MYC gene locus indicate an unfavorable prognosis in diffuse large B-cell lymphoma (DLBCL).

MYC gene

chromosomal aberrations


Input: Multiple genes associated with aggressive behavior were increased in the androgen-independent metastatic tumors (MMP9, CKS2, LRRC15, WNT5A, EZH2, E2F3, SDC1, SKP2, and BIRC5), whereas a candidate tumor suppressor gene (KLF6) was decreased.

aggressive behavior


Input: To test this hypothesis, we analyzed here the functional role and clinical significance of PD2 in pancreatic ductal adenocarcinoma (PDAC) and its pathogenesis.

pancreatic ductal adenocarcinoma


Input: In five cases with increased mast cells in which targeted-FISH analysis was performed for RUNX1-RUNX1T1, fusion signals demonstrated the translocation in mast cells in all cases.

translocation


Input: Corticobasal syndrome (CBS) is characterised by asymmetrical parkinsonism and cognitive impairment.

CBS

parkinsonism


Input: Case-control comparisons for allele and genotype frequencies showed that ADH4 SNPs were associated with alcohol dependence but not with alcohol abuse.

alcohol abuse

alcohol abuse


Input: From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.

nonsyndromic hearing loss

nonsyndromic hearing loss


Input: The DFNB74 locus for autosomal-recessive, nonsyndromic deafness segregating in three families was previously mapped to a 5. 36 Mb interval on chromosome 12q14. 2-q15.

nonsyndromic deafness

nonsyndromic deafness


Input: The incidence of TET2, ASXL1, CBL, IDH or IKZF1 mutations in these disorders ranges from 0 to 17%; these latter mutations are more common in chronic (TET2, ASXL1, CBL) or juvenile (CBL) myelomonocytic leukemias, mastocytosis (TET2), myelodysplastic syndromes (TET2, ASXL1) and secondary acute myeloid leukemia, including blast-phase MPN (IDH, ASXL1, IKZF1).

CBL

mastocytosis


Input: This study examines mechanisms of hypoxia-induced PPARγ downregulation in vitro and in vivo.

PPARγ

hypoxia


Input: We conclude that immunoglobulin V region somatic hypermutation does not induce point mutations into the t (14; 18) breakpoint region or into the translated region of the third exon of bcl-2 alleles involved in the t (14; 18) translocation, conserving the membrane insertion properties of the carboxyl tail of this protein.

translocation


Input: Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.

PAPA syndrome

PAPA syndrome


Input: δ-Catenin mutations increase β-catenin translocation to the nucleus and hypoxia-inducible factor 1α (HIF-1α) expression.

translocation


Input: The leptin receptor (LEPR) plays a crucial role in the regulation of body weight.

LEPR

body weight


Input: Pentraxin 3 is a member of the pentraxin family which is expressed as part of the acute-phase response that begins after injury, trauma, and infection.

Pentraxin 3

acute-phase response


Input: This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p. Gly573Ser may be a recurrent abnormality in this genodermatosis.

OS

OS


Input: Knockdown of placental Hif-1α mRNA by specific siRNA significantly attenuated hallmark features of preeclampsia induced by angiotensin II type I receptor agonistic autoantibody in pregnant mice, including hypertension, proteinuria, kidney damage, impaired placental vasculature, and elevated maternal circulating soluble fms-like tyrosine kinase-1 levels.

kidney damage


Input: CCL20 peptides, which block CCR6 binding to CCL20, inhibited development of type 1 diabetes.

type 1 diabetes

type 1 diabetes


Input: The findings of this study expand the clinical and pathologic spectrum of DGP associated with POMGNT2 variants from the severest Walker-Warburg syndrome to the mildest LGMD phenotypes.

LGMD

LGMD


Input: Increased recovery rates of phosphocreatine and inorganic phosphate after isometric contraction in oxidative muscle fibers and elevated hepatic insulin resistance in homozygous carriers of the A-allele of FTO rs9939609.

FTO

insulin resistance


Input: Knockdown of PAR-1 had no effect on cells' adhesiveness, while PAR-3 knockdowns (KDs) exhibited much faster adhesion kinetics.

adhesion


Input: Several recent epidemiological studies have identified interactions between maternal smoking during pregnancy, genetic variants of endothelial nitric oxide synthase, and risk for gastroschisis.

endothelial nitric oxide synthase

smoking


Input: We present a case of renal epithelioid angiomyolipoma (eAML)/perivascular epithelioid cell tumor (PEComa) with a TFE3 gene break visible by fluorescence in situ hybridization (FISH).

FISH

perivascular epithelioid cell tumor


Input: Correspondingly, western blot analysis revealed VTA-selective up-regulation of CREB (p & lt; 0. 01), NMDAR1 (p & lt; 0. 01), GluR2 (p & lt; 0. 05), GluR5 (p & lt; 0. 01) and KA2 (p & lt; 0. 05) protein levels of cocaine overdose victims.

of cocaine overdose

of cocaine overdose


Input: Here, we investigated the effects of FKBP12. 6 over-expression and gender on Ca (2 +)-handling proteins (RyR2, SERCA2a/PLB, and NCX), and on pro-(CaMKII, Cn/NFAT) and anti-hypertrophic (GSK3β) signalling pathways in a thoracic aortic constriction (TAC) mouse model.

FKBP12. 6

thoracic


Input: Our aims were to assess the FTO gene expression in subcutaneous and visceral adipose tissues from morbidly obese women and its relation with obesity, insulin resistance indices, and most importantly, to obesity-related inflammatory markers.

FTO gene

insulin resistance


Input: The outgrowth of human colorectal tumors grown in mice was completely blocked by transduction with AAV. TRAIL in vitro, while in vivo transduction significantly inhibited the growth of established tumors.

AAV

colorectal tumors


Input: SPARCL1 functions as a tumor suppressor promoting differentiation possibly via MET, which inhibits the aggressiveness of CRCs.

aggressiveness


Input: These findings illustrate that an autocrine loop of VEGFA via VEGFR-2 is critical for the tumorigenic effects of TGF-β1 and hypoxia on metastatic prostate cancers.

VEGFA

hypoxia


Input: We report that under normoxic conditions, ET (B) R activation by ET-1/ET-3 enhances vascular endothelial growth factor (VEGF) up-regulation, cyclooxygenase (COX)-1/COX-2 protein expression and COX-2 promoter activity, prostaglandin E (2) (PGE (2)) production, and do so to a greater extent under hypoxia.

VEGF

hypoxia


Input: EPCs labeled with CD34, CD133 and vascular endothelial growth factor receptor-2 (VEGFR2) antibodies were counted by flow cytometry in the peripheral blood (PB) of 33 patients with a current episode of major depression and of 16 control subjects.

major depression

major depression


Input: Four family members (S100A2, S100A4, S100A6 and S100A10) demonstrated evidence of upregulated expression in multiple medulloblastoma cell lines, following treatment with the DNA methyltransferase inhibitor, 5'-aza-2'-deoxycytidine.

medulloblastoma

medulloblastoma


Input: Significant augmentation of pro-apoptotic gene therapy by pharmacologic bcl-xl down-regulation in mesothelioma.

bcl-xl

mesothelioma


Input: We investigated if sKlotho levels are decreased in type 2 diabetes and associate with MVD in the absence of diabetic nephropathy, and whether hyperglycemia affects renal Klotho production in vitro and in vivo.

MVD

type 2 diabetes


Input: Our aim has been to investigate whether matrix Gla protein (MGP) T-138C, osteopontin (SPP1) T-443C, and Asp94Asp single nucleotide polymorphisms are associated with the development of arterial calcification and bone density.

arterial calcification


Input: Soluble CD146 was measured by competitive enzyme-linked immunosorbent assay in synovial fluids of 3 healthy individuals and 7 cadavers (controls), as wells as in patients with traumatic joint injury (n = 10), osteoarthritis (OA; n = 10), psoriatic arthritis (PsA; n = 10), other non-RA polyarthritis (NRAP; n = 10), and RA (n = 31).

polyarthritis


Input: Overexpressed CBR1 by HIF-1α plays important roles in tumor growth under hypoxia and chemoresistance to anticancer drugs.

hypoxia


Input: We describe a breast cancer patient with a mammographically undetectable stage I tumor identified in our MRI screening study.

MRI

breast cancer


Input: These findings suggest that OPCML is an excellent candidate for the 11q25 ovarian cancer TSG.

OPCML

ovarian cancer

OPCML

ovarian cancer


Input: Our findings suggested that HECA, EBF1 and NOD2 were significantly hypomethylated, whereas MAP4K4, ZEB1 and FYN were hypermethylated, in atheromatous plaque lesions compared with plaque-free intima.

FYN

plaque


Input: PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

overgrowth

overgrowth


Input: One, 6, 12 and 24 h after reperfusion, Annexin V/PI flow cytometry was used to measure cell necrosis rate, apoptosis rate and survival rate.

Annexin V

necrosis


Input: A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

tau

frontotemporal dementia

tau

frontotemporal dementia


Input: SDF-1/CXCL12 binds to the chemokine receptors, CXCR4 and CXCR7, and controls cell proliferation and migration during development, tumorigenesis, and inflammatory processes.

tumorigenesis


Input: Our data strongly suggest that in BM, after oxidative DNA damage, as a result of gastroesophageal reflux, there is an increase in the percentage of cells in the G0G1 or G2M phases of the cell cycle to enable repair of damaged DNA; in some of these cases this is followed sequentially by p53 gene mutation and protein accumulation, DNA aneuploidy, HGD, and CA with or without Glut1 overexpression.

aneuploidy


Input: The findings suggest that the pathogenetic role of ERAP1 in ankylosing spondylitis is due to allotype-dependent alterations of the HLA-B27 peptidome that affect the immunologic and other features of HLA-B27.

spondylitis


Input: Productions of Cyr61, VEGF, and IL-8 by NPFs under hypoxia were detected by Western blot (Cyr61 and VEGF) or enzyme-linked immunosorbent assay (ELISA; IL-8).

VEGF

hypoxia


Input: Further investigations are required before using birth weight and COMT genotype as predictors of conduct disorder in children with attention-deficit/hyperactivity disorder, especially given the societal and legal ramifications of conduct disorder.

COMT

birth weight


Input: 24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

Wilson disease

Wilson disease


Input: In the striatum, expression of Tie2-hsEH resulted in a sex difference, with larger infarct in females than males.

infarct


Input: Four weeks after MI, rats were randomly divided into a control group (n = 11), HGF group (Adenovirus vector carrying human HGF (Ad-HGF)-transfected MSC transplanted into the infarct zone; n = 11), G-CSF group (intraperitoneal injection with G-CSF; n = 11), and HGF + G-CSF group (Ad-HGF-transfected MSC transplanted into the infarct zone and intraperitoneal injection with G-CSF; n = 11).

MSC

infarct


Input: To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS).

MMR

pertussis


Input: The results show that (1) total cell number in VAD and VAS OE are comparable; (2) localized areas of hyperplasia are present in the basal regions of VAD, but not VAS, OE; (3) there is a substantial increase in the number of PCNA (proliferating cell nuclear antigen) positive cells in the basal region of VAD OE relative to VAS OE; and (4) there is a relative increase in the levels of mRNA encoding the transcription factor, MASH I, in VAD OE.

proliferating cell nuclear antigen

hyperplasia


Input: Knockdown of endogenous NTN-1 increased expression of pro-inflammatory mediators and MPO, and aggravated neuroinflammation and brain edema.

brain edema

brain edema


Input: These results correlate with undetectable prostate-specific antigen in affected subjects, suggesting atrophic epithelium or lack of epithelial differentiation.

prostate-specific antigen

atrophic


Input: Adhesion assay revealed that the adhesion of THP-1 to HTSMCs challenged with ET-1 was increased, which was attenuated by the inhibitors of ET receptors, Src, MMPs, EGFR, PDGFR, PI3K, AKT, p42/p44 MAPK, and p300.

EGFR

adhesion


Input: To test whether the copy number variations (CNVs) of CD4 + T cell transcription factor genes including T-bet, GATA binding protein 3 (GATA)-3, related orphan receptor C (RORC) and forkhead box protein 3 (FOXP3) are associated with acute anterior uveitis either in the presence or absence of ankylosing spondylitis (AAU + AS +; AAU + AS-).

RORC

acute anterior uveitis


Input: Growing numbers of " electromagnetic hypersensitive " (EHS) people worldwide self-report severely disabling, multiorgan, non-specific symptoms when exposed to low-dose electromagnetic radiations, often associated with symptoms of multiple chemical sensitivity (MCS) and/or other environmental " sensitivity-related illnesses " (SRI).

SRI

multiple chemical sensitivity


Input: The candidate locus on chromosome 2p24 overlaps with a deafness locus, DFNB47, linked to autosomal recessive hearing impairment, while positive findings reported for affective psychosis and schizophrenia cluster in a region of 4-5 cM on 22q13. 1 within our second candidate locus.

schizophrenia

schizophrenia


Input: Although no significant association was found between hOGG1 Ser³²⁶Cys polymorphism and prostate cancer susceptibility in the pooled analysis, individuals with Ser/Cys + Cys/Cys genotypes were found to have greater risk of prostate cancer if they were also smokers (OR = 2. 66, 95% CI = 1. 58-4. 47) rather than non-smokers (OR = 2. 18, 95% CI = 1. 13-4. 19), compared with those with Ser/Ser genotype.

prostate cancer susceptibility


Input: A novel POU1F1 mutation (p. Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.

pituitary hormone deficiency


Input: The enhancement of VEGF protein production was attributed to increased protein stability due to oxygen deficiency.

VEGF

oxygen deficiency


Input: Upregulated inducible co-stimulator (ICOS) and ICOS-ligand in inclusion body myositis muscle: significance for CD8 + T cell cytotoxicity.

ICOS

inclusion body myositis


Input: WISE enrolled women with symptoms and signs of ischemia referred for coronary angiography; WTH enrolled asymptomatic, community-based women without heart disease.

WISE

heart disease


Input: In conclusion, cell division cycle 7 is a replication associated protein with relationships to gene amplification and genomic instability in breast carcinomas.

cell division cycle 7

genomic instability


Input: We examined whether MMP-9 genetic polymorphisms (g.-1562C > T and g.-90 (CA) 13-25) modify plasma MMP-9 and tissue inhibitor of metalloproteinase (TIMP)-1 levels and the responses to antihypertensive therapy in 214 patients with preeclampsia (PE), 185 patients with gestational hypertension (GH) and a control group of 214 healthy pregnant (HP).

TIMP

preeclampsia


Input: Recombinant TGF-β1 was capable of rescuing EMT and invasion that was inhibited by siRNA for Atg3 and 7 in HepG2 and BEL7402 cells under starvation.

starvation


Input: Incidence of microalbuminuria was significantly decreased by ACE versus non-ACE inhibitor therapy in Pro/Pro homozygotes (6. 3 vs. 11. 9%, respectively, HR 0. 46 [0. 29-0. 72]; P < 0. 001).

ACE

microalbuminuria


Input: BALB/c-nu mice were inoculated with human glioma U87-EGFRvIII cells in the brain and treated intracranially with IP10-scFv and/or intravenously with DC-induced CTLs for evaluating the therapeutic effect.

glioma


Input: Our findings demonstrate that AID has promiscuous genomic DSB-inducing activity, identify homologous recombination as a safeguard against off-target AID action, and have implications for genomic instability in B cell cancers.

AID

genomic instability


Input: OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

Lowe syndrome

Lowe syndrome


Input: Among these fusion genes, the TEL/AML1 translocation resulting from t (12; 21) is found in approximately one quarter of the childhood B-cell lineage acute lymphoblastic leukemia (ALL) cases and its prognosis is excellent.

translocation


Input: Our findings that COMT is associated with both NS personality traits and with the age of onset of heroin use helps to clarify the complex relationship between genetic and psychological factors in the development of substance abuse.

COMT

personality traits


Input: As the clinical PVSG and the pathological WHO criteria show significant shortcomings, an updated set of European Clinical and Pathological (ECP) criteria combined with currently available biological and molecular markers are proposed to much better distinct true ET from early PV mimicking ET, to distinguish ET from thrombocythemia associated with prefibrotic CIMF, and to define the various clinical and pathological stages of PV and CIMF that has important therapeutic and prognostic implications.

ECP

thrombocythemia


Input: PATIENTS: NC patients (n = 114) diagnosed by stimulated-17OHP ≥ 10 ng/mL were divided into groups according to the beginning of hyperandrogenic manifestations (pediatric and adolescent/adult) and CYP21A2 genotypes (C/C: homozygosis for mild mutations; A/C: compound heterozygosis for severe/mild mutations).

mild


Input: In this study, we examined E-cadherin, beta-catenin, DCC, p53 and Ki67 immunoexpression in cases of carcinoid of the appendix and made a comparison with non-appendiceal carcinoid tumors.

DCC

carcinoid tumors


Input: Epithelial-mesenchymal transition (EMT) is a key contributor in tumor progression and metastasis.

EMT

tumor progression


Input: The usefulness of urinary cystatin C for the early detection of renal damage in anti-glomerular basement membrane (GBM) glomerulonephritis rats was investigated and compared to other biomarkers (β2-microglobulin, calbindin, clusterin, epidermal growth factor (EGF), alpha-glutathione S-transferase (GST-α), mu-glutathione S-transferase (GST-μ), kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), osteopontin, tissue inhibitor of metalloprotease-1 (TIMP-1), and vascular endothelial growth factor (VEGF)).

NGAL

glomerulonephritis


Input: Homozygosity for the A-allele of the C-920--> A promoter polymorphism of the SOCS3 gene may be associated with increased whole-body insulin sensitivity, but deserves further investigation.

SOCS3 gene

insulin sensitivity


Input: The most striking result was that supernumerary centrosomes in aneuploid colorectal cancer cell lines were unable to nucleate microtubules, despite the presence of gamma-tubulin, pericentrin, PLK1, and AURKA.

aneuploid