Input: We identified significant aggregate-level associations between cognitive decline and the gene regions BIN1, CD33, CELF1, CR1, HLA cluster, and MEF2C in the all-female cohort and significant associations with ABCA7, HLA cluster, MS4A6E, PICALM, PTK2B, SLC24A4, and SORL1 in the all-male cohort.

cognitive decline


Input: We therefore analyzed several candidate genes of MODY, and identified a novel mutation of a 39-base heterozygous deletion in exon 3 (c. 374-412 del39) of PAX4 in the proband and his father.

MODY

MODY


Input: CRF-R1 activation inhibits cell growth and proliferation of a tumor cell line derived from the human endometrium, and the UCN signaling pathway has been implicated in tumorigenesis of several tissues.

UCN

tumorigenesis


Input: Double immunohistochemical staining with TSLP and DC-LAMP or tryptase showed the existence of activated dendritic cells and mast cells near TSLP-positive cells in the giant papillae.

TSLP

giant


Input: In cell culture, with the Tet-Off-regulated ERbeta-expressing cells, expression of ERbeta decreased expression of VEGF and PDGFbeta mRNA under normoxic as well as hypoxic conditions and reduced secreted VEGF and PDGFbeta proteins in cell culture medium.

VEGF

hypoxic


Input: The activity of tartrate-resistant acid phosphatase, a marker of bone resorption, was significantly lower in the beclomethasone group than in both the asthma control and the normal control groups, but urine calcium excretion did not differ.

tartrate-resistant acid phosphatase

asthma


Input: Enalapril overdose and the corrective effect of intravenous angiotensin II.

angiotensin II

overdose

angiotensin II

overdose


Input: The differential expression of MORC4 identifies this molecule as a potential lymphoma biomarker, whose overexpression may contribute to the immunological recognition of MORC4 by a subgroup of DLBCL patients.

lymphoma


Input: We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes.

Bohring-Opitz syndrome

Bohring-Opitz syndrome


Input: To study the regulation of S100A4 by NFAT5 in a more readily inducible model, colon cancer cells were subjected to hyperosmotic stress.

colon cancer


Input: ADAM12 belongs to the group of A Disintegrin And Metalloproteases (ADAMs), which are typically membrane-associated proteins involved in ectodomain shedding, cell-adhesion, and signaling.

adhesion


Input: Loss of PTEN has been shown to be associated with aggressive behavior of prostate cancer.

PTEN

aggressive behavior


Input: We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase.

pyridoxine-dependent seizures

pyridoxine-dependent seizures


Input: A novel GNAS1 mutation, R201G, in McCune-albright syndrome.

McCune-albright syndrome

McCune-albright syndrome


Input: Skin lesions from mycosis fungoides (MF) patients display an increased expression of interleukin-15 (IL-15), IL-17F, and other cytokines implicated in inflammation and malignant cell proliferation in cutaneous T-cell lymphoma (CTCL).

inflammation


Input: Immunohistochemistry localized WNT10B and FRP1 in synovial lining cells, fibroblasts, and endothelial cells in RA and OA synovium, respectively, and WNT10B expression was increased in parallel with the degree of inflammatory cell infiltration and tissue fibrosis.

fibrosis


Input: Individuals in the low 5-HTT-expressing group were significantly less sensitive to heat-pain (p = 0. 02) and cold-pain (p = 0. 03), compared to the high-expressing group.

cold


Input: Heme oxygenase-1 protects rat liver against warm ischemia/reperfusion injury via TLR2/TLR4-triggered signaling pathways.

ischemia/reperfusion injury

ischemia/reperfusion injury


Input: We could also confirm overexpression of these genes in HT-29 MCTSs and in MCTSs formed by the human glioblastoma tumor cell lines U343 MG, U373 MG, and DBTRG 05 MG. Knockdown of KLF5, Erbin, DUSP11, and TCFL5 was effectively achieved after transfection of HT-29 cells with the appropriate short-interfering RNAs (siRNAs), and correlated with a significant inhibition of MCTS formation in the case of KLF5, Erbin, and TCFL5 siRNAs.

glioblastoma


Input: Combined effects of current-smoking and the aldehyde dehydrogenase 2 * 2 allele on the risk of myocardial infarction in Japanese patients.

aldehyde dehydrogenase 2

smoking


Input: These findings also indicate that the hypertension, renal vasoconstriction, and Na + retention accompanying prolonged ANG II infusions may be mediated by calcium-dependent mechanisms.

ANG

hypertension, renal


Input: The absolute 10-year risk of breast cancer in CHEK2 * 1100delC heterozygotes amounted to 24% in women older than 60 years undergoing hormone replacement therapy, with a body mass index of 25 kg/m2 or higher.

body mass index


Input: Real-time polymerase chain reaction was used for the analysis of mRNA expression of five S1P ((1-5)) and three LPA ((1-3)) receptors on a large panel of 13 colon, breast, melanoma, and lung cancer cell lines.

LPA

lung cancer


Input: In addition, ENTPD1-null mice showed increased glomerular inflammation, in association with higher levels of monocyte chemoattractant protein-1 (MCP-1) expression.

inflammation


Input: Therefore, Gadd45b may be a novel therapeutic target for the cognitive deficits associated with many neurodevelopmental, neurological, and psychiatric disorders.

cognitive deficits


Input: Recently, two patients with the Dowling-Meara subtype of epidermolysis bullosa simplex (EBS-DM) were reported with different mutations in codon 125 of the keratin 14 gene.

keratin 14

EBS-DM

keratin 14

EBS-DM


Input: The introduction of K-ras (Val12) augmented the hypoxic induction of VEGF, and this was observed in wild-type and HIF-1alpha knockdown colon cancer cells.

VEGF

hypoxic


Input: Correlation of major depressive disorder symptoms with FKBP5 but not FKBP4 expression in human immunodeficiency virus-infected individuals.

major depressive disorder

major depressive disorder


Input: HOXD10, HOXD11, HOXD13, CCL8 and LIM homeobox 2 were highly and exclusively expressed in RA and CLU, sarcoglycan-gamma, GPR64, POU3F3, peroxisome proliferative activated receptor-gamma and tripartite motif-containing 2 were expressed only in OA.

tripartite motif-containing 2

OA

tripartite motif-containing 2

OA


Input: HIF-1α protein expression was induced and the levels of VEGF increased under hypoxic conditions.

VEGF

hypoxic


Input: The FREQ, LOGISTIC, and GENMOD procedures of SAS (SAS Institute, Cary, NC) were used to evaluate possible risk factors for cyst prevalence, and the MIXED procedure was used to quantify the relationships of visual acuity to retinal thickness measured at different locations within the macula.

FREQ

cyst


Input: The iNOS transgenic mice (iNOS-Tgm), which developed diabetic glomerulosclerosis resembling human diabetic nephropathy, exhibited markedly increased expressions of ALK1, TCF7L2, Smad1, pSmad1, and α-SMA in glomeruli in association with mesangial matrix expansion.

diabetic nephropathy


Input: Our data also indicate that the ENaC inhibitory domain of SPLUNC1 may be cleaved away from the main molecule by neutrophil elastase, suggesting that it may still be active during inflammation or neutrophilia.

neutrophil elastase

neutrophilia


Input: Mutation screening of the CHST6 gene has been undertaken to identify the underlying mutations in five unrelated British families with MCD.

MCD

MCD


Input: Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

SNRPE

hypotrichosis simplex

SNRPE

hypotrichosis simplex


Input: In multivariate analysis of pretreatment parameters associated with a sustained virological response to treatment, three parameters appeared to be independent predictors of such a response: a low viral load (P < 0. 04), a low anti-HCV core IgM titer (P = 0. 03) and a low genetic complexity of HVR1 major variants (P < 0. 04).

viral load


Input: LMX1B mutations were identified in 5 of the 8 index cases-three sporadic and two familial.

sporadic


Input: In metastatic melanoma cell lines, PAF induced CREB and ATF-1 phosphorylation via a PAFR-mediated signal transduction mechanism that required pertussis toxin-insensitive Galphaq protein and adenylate cyclase activity and was antagonized by a cAMP-dependent protein kinase A and p38 MAPK inhibitors.

PAFR

metastatic melanoma


Input: Expression of Twist and Bmi1 is associated with aggressiveness and poor prognoses of IPMN through EMT promotion that might be induced by Notch signaling.

aggressiveness


Input: We suggest that the melanoma triggers a process leading to an up-regulation of FGF2 in the human eye and this up-regulation might be responsible for the ERG attenuation.

ERG

melanoma


Input: We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K (+) channel Kir2. 1.

AS

AS


Input: To determine whether RARs play a role in mediating the effects of RA on human esophageal cancer (HEC) cells, we analyzed the effects of RA on: (a) the growth, differentiation, and apoptosis in seven HEC cell lines; (b) receptor expression; (c) receptor modulation by RA; and (d) expression of receptors in 20 surgical HEC specimens.

HEC

esophageal cancer


Input: We investigated a possible association of DRD3 genotype with DAT and the behavioral and psychological symptoms of dementia (BPSD) in mild DAT.

mild


Input: We aimed to find out the association of TNF-α levels with insulin resistance, body mass index and waist hip ratio; and to elicit its role with respect to duration of the disease, if any.

TNF-α

waist hip ratio


Input: Under hypoxia, HIF-1alpha is activated in tumor cells, and induces the transcription of vascular endothelial growth factor (VEGF), which is the prime regulator for angiogenesis.

VEGF

hypoxia


Input: We also demonstrated that RNA interference-mediated down-regulation of bcl-2 expression resulted in a decrease in the ERK1/2 phosphorylation and VEGF secretion only in bcl-2-overexpressing cell exposed to hypoxia but not in control cells.

VEGF

hypoxia


Input: We now demonstrate that the platelet-derived chemokine, platelet factor 4 (PF4)/CXCL4, promotes the development of experimental cerebral malaria (ECM).

ECM

cerebral malaria


Input: The coding region of the ATP7B gene was scanned by single-stranded conformation polymorphism (SSCP) analysis in 6 cases in whom the diagnosis of WD was uncertain.

WD

WD


Input: Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing.

DDS

DDS


Input: A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.

osteogenesis imperfecta type I

osteogenesis imperfecta type I


Input: In monocytic THP-1 and primary airway smooth muscle cells, Wnt4 induced inflammation and enhanced the inflammatory response to lipopolysaccharide and IL-1β but did not induce proliferation.

inflammation


Input: The association between alcohol consumption, ADH1B or ADH1C genotypes, and CVD-risk was assessed using Cox proportional hazards regression.

regression


Input: Moreover, WT mice reconstituted long-term with Erk1 (-/-) bone marrow mononuclear cells (BMMNCs) demonstrated increased bone mineral density as compared to recipients transplanted with WT and Erk2 (-/-) BMMNCs, implicating marrow autonomous, Erk1-dependent osteoclast function.

bone mineral density


Input: In vitro, caspase-2 activation in RCC cell lines coincidenced with sensitivity of tumour cells towards Topotecan-induced apoptosis.

RCC

RCC


Input: The aim of this study was to in vitro characterize the germline CDKN1B mutation c. 374_375delCT (S125X) we detected in a patient with MEN4.


Input: Changes of food and water intakes, body weight, blood glucose, plasma insulin and immunohistochemical evaluation of insulin on pancreas, and mRNA expression of glucose transporter subtype-4 (GLUT-4) in skeletal muscle and hepatic phosphoenolpyruvate carboxykinase (PEPCK) by administration of NHF (300 mg/kg) were investigated.

PEPCK

body weight


Input: This study demonstrates that doxycycline significantly delays aneurysm rupture in MFS-like mice by inhibiting expression of tissue MMP-2 and MMP-9 and thus, degradation of the elastic matrix.

MFS

MFS


Input: Taken together, our results show that the strategy of pooling DNA is a powerful, cost-effective application for WES in consanguineous families and establish PAX1 as a new disease-causing gene for OFCS and as part of the EYA-DACH-SIX-PAX network, important in early embryogenesis.

OFCS

OFCS


Input: De novo t (12; 17) (p13. 3; q21. 3) translocation with a breakpoint near the 5' end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations.

HOXB gene

translocation


Input: Clinical characteristics of APL with STAT5B-RARA are also discussed.

APL

APL


Input: We report here that ginkgo flavonols quercetin and kaempferol stimulates depression-related signaling pathways involving brain-derived neurotrophic factor BDNF/phosphorylation of cyclic AMP response element binding protein CREB/postsynaptic density proteins PSD95, and reduces amyloid-beta peptide (Abeta) in neurons isolated from double transgenic AD mouse (TgAPPswe/PS1e9).

depression

depression


Input: Our findings suggest that UCP2 and UCP4 have a modest but important involvement in the genetic etiology of schizophrenia.

schizophrenia

schizophrenia


Input: We therefore propose that prolactin receptor signaling contributes to the local inflammatory response within the atherosclerotic plaque and thus to atherogenesis.

prolactin receptor

atherogenesis


Input: It was hypothesized that treating the lung with penehyclidine hydrochloride (PHC), a new type of hyoscyamus drug, early in the development of sepsis could diminish the lung dysfunction.

PHC

sepsis


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

CAR

metabolic syndrome

CAR

metabolic syndrome


Input: Using lentiviral gene transfer, microarray and Q-RT-PCR technologies, we identify rs2670660 allele-specific gene expression signatures (GES) which appear useful for detecting the activated states of innate immunity/inflammasome pathways in approximately 700 clinical samples from 185 control subjects and 350 patients diagnosed with nine common human disorders, including Crohn' s disease, ulcerative colitis, rheumatoid arthritis, Huntington disease, autism, Alzheimer disease, obesity, prostate and breast cancers.

GES

ulcerative colitis


Input: Congenital hypomyelinating neuropathy (CHN; MIM #605253) is a severe neuropathy with early infancy onset inherited as an autosomal dominant or recessive trait.

MIM

neuropathy


Input: TNBS and DSS induced more severe levels of inflammation in β-actin-hPepT1 transgenic mice than wild-type littermates.

β-actin

inflammation


Input: Concomitantly, ORM relieved hyperglycemia-induced insulin resistance as well as tumor necrosis factor-alpha-mediated lipolysis in adipocytes.

ORM

insulin resistance


Input: We previously reported that maximal body weight loss (inadequate feeding) is an independent risk factor for the development of hyperbilirubinemia in breast-fed Japanese neonates, and the UGT1A1 211G > A genotype becomes a risk factor under conditions of inadequate feeding.

body weight


Input: We show for the first time that antibody blockade of PVR or PVRL2 on AML cell lines or primary AML cells or TIGIT blockade on immune cells increases the anti-leukemic effects mediated by PBMCs or purified CD3 & lt; sup & gt; + & lt;/sup & gt; cells in vitro.

AML

AML


Input: In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry & #8805; 1 non-truncating mutation.

MKS

MKS


Input: The blocking of the Ku70 and Ku86 interaction by HSF1 induced defective NHEJ repair activity and ultimately activated genomic instability after ionizing radiation (IR), which was similar to effects seen in Ku70 or Ku80 knockout cells.

genomic instability


Input: In familial pulmonary fibrosis, asymptomatic preclinical alveolar inflammation associated with mutation in TERT and telomerase insufficiency can progress to fibrotic lung disease over 2 to 3 decades.

TERT

inflammation


Input: This study was undertaken to investigate the expression of TSLP in the giant papillae obtained from patients with vernal keratoconjunctivitis (VKC) or atopic keratoconjunctivitis (AKC), and its functional roles were analyzed.

TSLP

giant


Input: Using exome sequencing, we identified a homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement.

infantile encephalopathy

infantile encephalopathy


Input: Critical role of hypoxia sensor--HIF-1α in VEGF gene activation. Implications for angiogenesis and tissue injury healing.

VEGF

hypoxia


Input: Cellular studies showed that miR-133b enhances cell proliferation and colony formation by targeting mammalian sterile 20-like kinase 2 (MST2), cell division control protein 42 homolog (CDC42) and ras homolog gene family member A (RHOA), which subsequently results in activation of the tumorigenic protein kinase B alpha (AKT1) and mitogen-activated protein kinase (ERK1 and ERK2, here abbreviated as ERK) signaling pathways.

sterile


Input: To this end reverse transcription-polymerase chain reaction (RT-PCR) was performed for interferon (IFN) gamma, interleukin (IL)-2, IL-4, IL-5, IL-10, IL-12 (p35 and p40), and transforming growth factor (TGF beta 1) in snap-frozen cervical biopsies, which were tested for the presence of high risk HPV DNA and histologically classified from normal to invasive carcinoma (n = 40).

invasive carcinoma


Input: Hence, in the presence of MPS1 inhibitors, cells either divided in a bipolar (but often asymmetric) manner or entered one or more rounds of abortive mitoses, generating gross aneuploidy and polyploidy, respectively.

aneuploidy


Input: Human gastric cancer tissues were isolated as well as human gastric cell lines MGC803 and BGC823 were cultured to investigate the role of BANCR in gastric cancer.

BANCR

gastric cancer


Input: Sequence analysis revealed that the translocation broke the 3' side of the Ig heavy chain diversity (DH) segment at the heptamer recombination signal and each end was ligated to the bcl-2 locus.

translocation


Input: Sertraline significantly reduced the average depression and anxiety subscale scores of HADS, as well as the scores of the subscales of Mini-MAC.

MAC

anxiety


Input: In contrast, in this report we demonstrate that lung tissue from patients undergoing lung reduction surgery for advanced emphysema, without clinical or anatomical evidence of acute infection, displays a selective and apparently sustained increase in Egr-1 transcripts and antigen, compared with a broad survey of other genes, including the transcription factor Sp1, whose levels were not significantly altered.

transcription factor Sp1

emphysema


Input: The shifted steady-state inactivation shows similarities to that obtained from axotomized dorsal root ganglions, which were shown to upregulate Nav1. 3.

Nav1. 3

ganglions


Input: In t (8; 21) leukemic cells, very stable interactions between AML1-ETO and E proteins underlie a t (8; 21) translocation-specific silencing of E protein function through an aberrant cofactor exchange mechanism.

translocation


Input: Activity of GFR/PI3K/AKT pathway inhibitors in glioblastoma clinical trials has not been robust.

GFR

glioblastoma


Input: Neurochemical changes in LPA1 receptor deficient mice--a putative model of schizophrenia.

schizophrenia

schizophrenia


Input: Metformin increased in vitro angiogenesis under hyperglycemia-hypoxia and augmented the expression of VEGFA.

VEGFA

hypoxia


Input: PRLR (I146L) is the first identified gain-of-function variant of the prolactin receptor (PRLR) that was proposed to be associated with benign breast tumorigenesis.

PRLR

tumorigenesis


Input: Compared with CA2 and CA4, CA16 infections resulted in more cases of HFMD and had significantly higher transmission rates in preschoolers.

infections


Input: Aromatic hydrocarbon receptor (AHR), a receptor for dioxin-like compounds, functions as a transcription factor through dimerization with hypoxia-inducible factors 1β (HIF-1β) and inhibits the secretion of vascular endothelial growth factor (VEGF).

VEGF

hypoxia


Input: Poststroke depression (PSD) is one of the most common neuropsychiatric complications after stroke.

PSD

stroke


Input: (iii) To determine if P-cadherin is functional regarding catenin binding in polyps.

P-cadherin

polyps


Input: Four girls with sporadic congenital hypothyroidism and hypoplastic thyroid glands were analyzed for mutations in PAX8 and TTF2 (FKHL15).

sporadic


Input: This raises the possibility that pressure overload, through a GSK-3β-dependent mechanism, increases GADD153 expression, thereby upregulating inflammatory cytokine production and contributing to worsening of myocardial ischemia reperfusion injury.

myocardial ischemia


Input: Under hypoxic conditions, the mRNA and protein levels of ADM, as well as those of the cancer‑promoting genes vascular endothelial growth factor and hypoxia‑inducible factor 1α, were significantly elevated in a time‑dependent manner in three human HCC cell lines.

ADM

hypoxic


Input: Hence, chloroform prevented the hypomethylation and increased mRNA expression of the c-myc gene and the promotion of liver tumors by DCA, while enhancing DCA-promotion of kidney tumors.

c-myc

liver tumors

c-myc

liver tumors


Input: Mice lacking MAT1A have reduced hepatic S-adenosylmethionine content and hyperplasia and spontaneously develop nonalcoholic steatohepatitis.

hyperplasia

hyperplasia


Input: PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma.

PGC

oncocytoma


Input: Previous studies demonstrated that HLA-DR4 was markedly increased among Ashkenazi Jewish patients with pemphigus vulgaris (PV), almost entirely as the common Jewish extended haplotype [HLA-B38, SC21, DR4, DQw8] or as the haplotype HLA-B35, SC31, DR4, DQw8, and that HLA-DR4, DQw8 was distributed among patients in a manner consistent with dominant expression of a class II (D-region or D-region-linked) susceptibility gene.

pemphigus vulgaris


Input: The hemogram showed a phenotype of beta-thalassemia minor: Hb (13. 1 g/dL), mean corpuscular volume (MCV) (62 fL) with low mean corpuscular hemoglobin (MCH) (20. 8 pg), associated with a high level of Hb A (2) of 5. 3%.

MCH

mean corpuscular hemoglobin


Input: Reactive oxygen species (ROS) derived from NADPH oxidases (Nox), and transforming growth factor-β (1) (TGF-β (1)) have been implicated in the pathogenesis of hypoxia-induced remodeling.

TGF-β

hypoxia


Input: In addition, patients carrying the delta ccr5 allele tend to show a slow progression towards HIV-1-related disease, remaining asymptomatic for longer periods of time.

slow progression


Input: Our findings suggest that SIRT6 suppressed cardiomyocyte hypertrophy in vitro via inhibition of NF-κB-dependent transcriptional activity and that this effect was dependent on its deacetylase activity.

cardiomyocyte hypertrophy


Input: Therefore, down-regulation of HCN1 associated with human epilepsy and rodent models may be a contributing factor in seizure behavior.

seizure

seizure


Input: To our knowledge, this is the first report in the literature of patients presenting with autosomal dominant osteosclerosis in whom a variable expression of craniosynostosis, macrocephaly, and mild developmental delay is observed, which is most likely associated with a mutation in the LRP5 gene.

LRP5 gene

mild


Input: These data suggest that the common variants of WLS analyzed in this study are not associated with opioid or cocaine addiction.

WLS

cocaine addiction


Input: Our findings reveal important pathophysiological differences between human IPF and specific mouse models of fibrosis and support a crucial role of GRHL2 in epithelial activation in lung fibrosis and perhaps also in epithelial plasticity.

fibrosis


Input: Urethane-induced lung tumors in mice frequently harbor mutations in the Kras oncogene, and in this study, we use this model to address the regulation of p27 during tumorigenesis.

tumorigenesis


Input: At the molecular level, cold is detected by transient receptor potential melastatin 8 (TRPM8).

cold


Input: Elevated ApoA1 level may be a risk factor for a first hemorrhagic stroke.

hemorrhagic stroke


Input: Evaluation of tight junction protein 1 encoding zona occludens 1 as a candidate gene for albuminuria in a Mexican American population.

zona occludens 1

albuminuria


Input: Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.

bipolar disorder

bipolar disorder


Input: Populations of infertile and fertile men were screened for mutations in SPO11 and EIF5A2, two infertility candidate genes.

infertility


Input: However, in the EPO + VEGF group infarct size was significantly smaller than in the groups receiving EPO or VEGF individually (p < 0. 05).

VEGF

infarct


Input: In this study, we have found that spartin is mono-ubiquitinated and functions in degradation of the epidermal growth factor receptor (EGFR).

spartin

mono


Input: The polyps were immunostained for PD-ECGF and vascular endothelial cell growth factor (VEGF), as well as for Ki-67 antigen and p53.

endothelial cell growth factor

polyps


Input: Epigenetic DNA hypermethylation of the HERP gene promoter induces down-regulation of its mRNA expression in patients with alcohol dependence.

HERP

alcohol dependence

HERP

alcohol dependence


Input: Screening for rearrangements should be part of comprehensive CFTR gene studies in CBAVD patients and may have impacts on genetic counselling for the patients and their families.

CFTR

CBAVD

CFTR

CBAVD


Input: METHODS: We investigated the association of NER SNPs (XPA A23G, XPC Ci11A, XPC C2919A and ERCC1 C118T) with phototherapy efficacy in 86 patients with vitiligo who received NB-UVB treatment.

XPA

vitiligo


Input: The basic molecular defect consists of the t (14; 18) (q32; q21) translocation, juxtaposing the B-cell lymphoma protein 2 gene BCL2 to the immunoglobulin heavy chain locus IGH @, and leading to the antiapoptotic BCL2 protein overproduction.

translocation


Input: These differential disease associations of HLA-B27 subtypes, and the recent discovery that ERAP1 is associated with ankylosing spondylitis for patients with HLA-B27, have increased attempts to determine the function of HLA-B27 in disease pathogenesis by studying hemodynamic features of its protein structure, alterations of its peptidome, aberrant peptide handling, and associated molecular events.

spondylitis


Input: The frequencies of IL-1beta + 3 594T, IL-10-1082G and CD14-159T allele were similar in patients with mild or severe pancreatitis and in controls.

mild


Input: HGF mRNA and HGF activity increase markedly in the liver of rats after various liver injuries such as hepatitis, ischemia, physical crush, and partial hepatectomy.

HGF

ischemia


Input: We propose a model with two pathways for labyrinthine trophoblast differentiation of TS cells, one of which is dependent on PPARγ and inhibited by hypoxia.

PPARγ

hypoxia


Input: Moreover, DDX3 expression correlated with hypoxia-related proteins EGFR, HER2, FOXO4, ERα and c-Met in a HIF-1α dependent fashion, and with COMMD1, FER kinase, Akt1, E-cadherin, TfR and FOXO3A independent of HIF-1α.

hypoxia


Input: In the present study, a dual‑regulated oncolytic adenovirus expressing the interluekin (IL)‑24 gene (Ki67‑ZD55‑IL‑24) was constructed utilizing the Ki67 promoter to replace the native viral promoter of the E1A gene.

adenovirus


Input: We also investigated whether RPN2 affects cancer malignancy in vitro and tumor growth and drug resistance in vivo.

malignancy


Input: The levels and patterns of DNA methylation are regulated by both DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and' demethylating' proteins, including the ten-eleven translocation (TET) family of dioxygenases (TET1, TET2 and TET3).

translocation


Input: We conclude that these variants in TJP1 do not appear to be major determinants for albuminuria in the SAFDGS; however, they may play a minor role in its severity in this Mexican-American population.

albuminuria


Input: Meta-analysis identified 19 genome-wide significant single nucleotide polymorphisms (SNPs) in C9orf72 on chromosome 9p21. 2 (lowest p = 2. 6 & #215; 10 (-12)) and 1 SNP in UNC13A on chromosome 19p13. 11 (p = 1. 0 & #215; 10 (-11)) as shared susceptibility loci for ALS and FTD-TDP.

ALS

ALS


Input: Our study confirmed the association between the G84E mutation of HOXB13 and risk of prostate cancer among subjects of European descent.

prostate cancer

prostate cancer


Input: The dihydropyrimidinase-like 3 (DPYSL3) or Collapsin Response Mediator Protein 4a (CRMP4a) expression is modified in neurodegeneration and is involved in several ALS-associated pathways including axonal transport, glutamate excitotoxicity, and oxidative stress.

neurodegeneration


Input: Furthermore, we demonstrated that TPZ was equally effective and hypoxia-selective even in the presence of the EBV oncoprotein, LMP1 or the EBV genome.

hypoxia


Input: We tested if dimethylfumarate (DMF), an anti-psoriasis drug, could inhibit abnormal vascular remodeling via NF-E2-related factor 2 (Nrf2)-NAD (P) H quinone oxidoreductase 1 (NQO1) activity.

quinone oxidoreductase

psoriasis


Input: This study demonstrates that the Chinese PXE population harbors unique ABCC6 mutations.

PXE

PXE


Input: ACE2 deficiency impairs cardiac contractility and upregulates hypoxia-induced genes, suggesting a link with myocardial ischaemia.

hypoxia


Input: In Ncc (-/-) mice, serum Ca and GFR were unchanged, but UVCa was reduced and PTH was elevated; Mg repletion largely corrected both abnormalities.

GFR

abnormalities


Input: BDNF induced a 2-to 4-fold increase in VEGF promoter activity, which could be abrogated if the hypoxia response element in the VEGF promoter was mutated.

VEGF

hypoxia


Input: The relationship between the presence of pheochromocytoma (PC) and/or hiperparathyroidism (HPT) in carriers of the same RET mutation, and the genotype for the specific variants was also studied.

HPT

pheochromocytoma


Input: Furthermore, neither measure of dependence was affected by possession of the A1 allele; the only difference between DRD2 * A1 bearing and DRD2 * A2 homozygous individuals in terms of smoking motives was found in the scores for indulgence; the former having a moderately reduced score (by 17%, p < 0. 05).

smoking


Input: Sputum VEGF levels are reported to be decreased in COPD, despite hypoxia.

VEGF

hypoxia


Input: Double-blind, placebo-controlled study of HGF gene therapy in diabetic neuropathy.

HGF

diabetic neuropathy

HGF

diabetic neuropathy


Input: As expected, EGFR and its downstream molecules, signal transducer and activator of transcription 3, v-Akt murine thymoma viral oncogene homologue, and extracellular signal-regulated kinase 1/2, were phosphorylated by SPINK1 as well as EGF.

thymoma


Input: In line with the absence of an effect of CETP on tissue-specific TG uptake, CETP also did not affect weight gain in response to a high-fat diet.

CETP

weight gain


Input: Every tumor with molecular-genetic evidence of t (14; 18) translocation expressed detectable levels of bcl-2 protein, regardless of whether the breakpoint was located in or at a distance from the bcl-2 gene.

bcl-2 gene

translocation


Input: Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.

neurologic disorders


Input: Compared with healthy subjects, patients with gingivitis, chronic and aggressive periodontitis, exhibited higher NFATc1 expression, which proved to be statistically significant in the periodontitis groups.

aggressive periodontitis


Input: Moyamoya disease (MMD) is a cerebrovascular disease characterized by occlusive lesions in the Circle of Willis.

MMD

cerebrovascular disease


Input: Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

HRAS

nevus sebaceous

HRAS

nevus sebaceous


Input: To test whether lung overexpression of the angiogenic factor vascular endothelial growth factor (VEGF) is beneficial in hypoxic PH, recombinant adenovirus encoding the human VEGF 165 gene under the control of a cytomegalovirus promoter (Ad.

VEGF

hypoxic


Input: Here we present evidence that S100A8/A9 interact with RAGE and carboxylated glycans on colon tumor cells and promote activation of MAPK and NF-κB signaling pathways.

RAGE

colon tumor


Input: Pressure-induced AKT translocation and phosphorylation to the membrane were compared, along with the stimulation of cell adhesion by pressure.

AKT

translocation


Input: A restricted spectrum of NRAS mutations causes Noonan syndrome.

NRAS

Noonan syndrome

NRAS

Noonan syndrome


Input: The objective of this study was to evaluate the association between magnetic resonance imaging (MRI) subclinical brain lesions and cerebrovascular risk factors (hyperhomocysteinaemia, MTHFR genotype, patent foramen ovale, hypertension, smoking and hypercholesterolaemia).

MRI

smoking


Input: A new nonrandom chromosomal abnormality, t (2; 16) (p11. 2; p11. 2), possibly associated with poor outcome in childhood acute lymphoblastic leukemia.

chromosomal abnormality


Input: When compared with the findings in other soft tissue tumors such as well-differentiated liposarcoma and low-grade malignant fibrous histiocytoma, the chromosome banding and in situ hybridization data add support to the notion that SEF is a relatively low grade variant of fibrosarcoma.

SEF

malignant fibrous histiocytoma


Input: The identification of OSMR and IL31RA gene pathology provides an explanation of the high prevalence of PCA in Taiwan as well as new insight into disease pathophysiology.

PCA

PCA


Input: Here we show that monocyte-derived DCs from persons with chronic HCV infection, with or without HIV-1 coinfection, being treated with combination antiretroviral therapy produced lower levels of interleukin 12 (IL-12) p70 in response to CD40 ligand (CD40L), whereas the expression of DC surface activation and costimulatory molecules was unimpaired.

coinfection


Input: This particular sebaceous gland carcinoma presented with concomitant genomic deletions at the BRCA1 and BRCA2 loci, and also at the constitutively fragile sites FRA3B/FHIT and FRA16D/WWOX.

sebaceous gland carcinoma


Input: Although the disease is associated with genome instability brought on by genetics and environmental factors there is evidence that mutations in the gene encoding for the breast cancer type 1 susceptibility protein (BRCA1) or its down-regulation are involved in its development.

genome instability


Input: Combined analysis revealed that atopic asthmatic children co-inherited the risk alleles of TNF-alpha-308G/A and IL-13 + 2044G/A more frequently than control children (aOR 1. 91, 95% CI 1. 00-3. 65), and asthmatic children co-inheriting both risk alleles had significantly lower PC (20) values vs. asthmatic children homozygous for the common alleles (P = 0. 024).

TNF-alpha

atopic


Input: Our results revealed that PDPK1 is a pivotal regulator of molecules that are essential for myelomagenesis, such as RSK2, AKT, c-MYC, IRF4, or cyclin Ds, and that PDPK1 inhibition caused the growth inhibition and the induction of apoptosis with the activation of BIM and BAD, and augmented the in vitro cytotoxic effects of antimyeloma agents in myeloma cells.

BAD

myeloma


Input: Preclinical evaluation of melanin-concentrating hormone receptor 1 antagonism for the treatment of obesity and depression.

melanin-concentrating hormone receptor 1

depression

melanin-concentrating hormone receptor 1

depression


Input: Among others, the RUNX1/ETO fusion protein, commonly found within acute myeloid leukemia cells carrying the translocation t (8; 21), is currently intensively studied at the functional and structural level as well as in animal models.

translocation


Input: Paradoxical worsening of seizure activity with pregabalin in an adult with isodicentric 15 (IDIC-15) syndrome involving duplications of the GABRB3, GABRA5 and GABRG3 genes.


Input: Our results demonstrated that TSPY was expressed at low levels in normal epithelial cells and benign prostatic hyperplasia (BPH), but at elevated levels in tumor cells of prostate cancers at various degrees of malignancy.

TSPY

benign prostatic hyperplasia


Input: The observations indicate a previously unrecognized role for DIF-2 in ANCA-mediated inflammation, which raises the possibility that DIF-2 has an important role in other types of inflammation.

inflammation


Input: Six genes (RGS4, SCA1, GRM4, DPYSL2, NOS1, and GRID1) met this criterion for schizophrenia or schizoaffective disorder; five replicate previous associations, and one, GRID1, shows a novel association with schizophrenia.

schizoaffective disorder


Input: These findings collectively suggest that CypD is a promising target for a new drug for BD.

CypD

BD

CypD

BD


Input: We found reduced heart rate and rate dependent functions of the rat heart, early release of free radicals triggering the release of cytotoxic inflammatory cytokines (like TNF-?

TNF

heart rate


Input: Our studies were promoted by our observation that NMI expressing breast cancer cells showed autophagic vacuoles and LC3 processing.

autophagic vacuoles


Input: Do RCAN1 proteins link chronic stress with neurodegeneration?

neurodegeneration


Input: The increased protective capacity of the Tyr (402) Factor H variant allows better and more efficient clearance and removal of cellular debris and reduces inflammation and pathology.

Factor H

inflammation


Input: Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases.

FUS

sporadic


Input: Our work reveals an important oncogenic cooperation between NK-1R and HER2, thereby adding a novel link between inflammation and cancer progression that may be targetable by SP antagonists that have been clinically explored.

inflammation


Input: First, with the Principle Component analysis, six proteins, CYP2E1, FAM25, CA3, BHMT, HIBADH and ECHS1, involved in oxidation reduction, energy and lipid metabolism and amino acid metabolism, were identified as the most differentially expressed gene products across all of the experimental conditions of our chronic alcoholism model.

BHMT

chronic alcoholism

BHMT

chronic alcoholism


Input: Twenty-three patients with extrinsic allergic alveolitis due to an allergy to inhaled budgerigar serum protein (budgerigar fancier' s lung disease) were typed for HLA-A, B, C and HLA-DR antigens.

HLA-A

extrinsic allergic alveolitis


Input: SYN was significantly lower in DSAD compared with DS alone and similar to sporadic AD.

SYN

sporadic


Input: The carcinomas that most frequently exhibited strong mesothelin reactivity were nonmucinous carcinomas of the ovary (14 of 14 serous, 3 of 3 endometrioid, 6 of 8 clear cell, and 4 of 4 transitional cell carcinoma), and adenocarcinomas of the pancreas (12 of 14), the ampulla of Vater (3 of 3), endometrium (7 of 11), lung (14 of 34), and liver (7 of 19 cholangiocarcinomas).

mesothelin

cholangiocarcinomas

mesothelin

cholangiocarcinomas


Input: We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46, XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.

sexual infantilism

sexual infantilism


Input: High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

cathepsin K

bone mineral density


Input: We generated ApoE-/-Nlrp3-/-, ApoE-/-Asc-/-and ApoE-/-caspase-1-/-double-deficient mice, fed them a high-fat diet for 11 weeks and subsequently assessed atherosclerosis progression and plaque phenotype.

plaque


Input: AML exhibiting the translocation t (8; 21), which fuses the AML1 and ETO genes, has such a characteristic expression profile.

translocation


Input: Using these and other 19p13 translocation breakpoints as landmarks, we established a partial physical map of 19p: 19pter-E2A-INSR-LYL1-[t (4; 19)]-19cen.

INSR

translocation


Input: Targeted deletion of the IRAG-InsP3RI interaction in IRAGDelta12/Delta12 mutant mice leads to a loss of NO/cGMP-dependent inhibition of fibrinogen-receptor activation and platelet aggregation.

IRAG

fibrinogen


Input: The results of the present study suggest that the Trp64Arg mutation of the beta (3) AR gene is associated with difficulty in losing weight through behavioral intervention, although it is not related to obesity-related phenotypes and resting energy expenditure before the intervention.

AR gene

weight


Input: Using a human-scid model of IBC (MARY-X), we have demonstrated using retrovirally-mediated dominant-negative E-cadherin mutant approaches (H-2K (d)-E-cad), that the tumor cell embolus (IBC spheroid) forms on the basis of an intact and overexpressed E-cadherin/alpha, beta-catenin axis which mediates tumor cell-tumor cell adhesion analogous to the embryonic blastocyst and accounts for the compactness of the embolus.

beta-catenin

cad


Input: TRPC6, TRPM6, and TRPP2 have been implicated in hereditary focal segmental glomerulosclerosis (FSGS), hypomagnesemia with secondary hypocalcemia (HSH), and polycystic kidney disease (PKD), respectively.

polycystic kidney disease


Input: Polycomb-group proteins Bmi1 and EZH2 are involved in the malignant transformation and biological aggressiveness of several human carcinomas.

aggressiveness


Input: Immunohistochemical expression of MCT1, MCT4, CD147, GLUT1 and CAIX was assessed in a series of 28 chronic cervicitis, 34 LSIL, 29 HSIL, 38 cases of squamous cells carcinoma (SCC), as well as in in vitro 3D culture of keratinocytes expressing HPV genes.

chronic cervicitis


Input: To establish a functional link between SCAI and tumorigenesis we performed affinity columns to identify SCAI-interacting proteins.

SCAI

tumorigenesis


Input: To this aim, we analyzed transcriptomic data from rhabdomyosarcoma samples and found that P-cadherin expression is correlated with PAX3/7-FOXO1A presence.

P-cadherin

rhabdomyosarcoma


Input: The expression of retinoic acid receptor beta2 (RAR-beta2) is frequently lost in various cancers and their premalignant lesions.

RAR

premalignant


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.

COL1A1 gene

translocation


Input: These findings suggest that the splicing events regulated by the SRPK1-RMB4 network may contribute to tumorigenesis through altered sensitivity to apoptotic signals in breast cancer cells.

tumorigenesis


Input: The authors screened two index patients diagnosed with fundus albipunctatus for mutations in exons 2 to 5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene by direct sequencing.

11-cis retinol dehydrogenase

fundus albipunctatus

11-cis retinol dehydrogenase

fundus albipunctatus


Input: Studies in humans have investigated the possibility that mutations in the INSL3 gene are the cause of cryptorchidism.

cryptorchidism

cryptorchidism


Input: In seven families with complete AIS, single base mutations were found in the region of the AR gene encoding the steroid-binding domain of the receptor.

AR

AIS

AR

AIS


Input: The contribution of cigarette smoking to sporadic colorectal cancer may differ according to molecular aspects of the tumor or according to glutathione S-transferase M1 (GSTM1) or glutathione S-transferase T1 (GSTT1) genotype.

sporadic


Input: Thus, paracrine signaling by the BDNF/TrkB system is important for human cytotrophoblast differentiation, proliferation, and survival, and inhibition of BDNF/TrkB signaling in cytotrophoblasts could provide a novel medical treatment for ectopic pregnancy.

BDNF

ectopic pregnancy


Input: IRIDA is characterized by hypochromic microcytic anemia unresponsive to oral iron treatment, low transferrin saturation, and a high level of iron-regulated hormone hepcidin.

hepcidin

hypochromic microcytic anemia


Input: Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer.

MRI

breast cancer


Input: Furthermore, the plaque area of the aortic sinus and the concentrations of total cholesterol (TC), triglyceride (TG), and low density lipoprotein cholesterol (LDL-C) were also decreased in the atherosclerotic mice by CRY1 overexpression.

plaque


Input: To gain further insights into the mechanisms of IK1 involvement in cardiac excitability, we studied the susceptibility of transgenic mice with altered IK1 to arrhythmia during various pharmacological and physiological challenges.

arrhythmia


Input: Our results show a widespread dependence of AML cells on autocrine activation of MET, as well as the key role of compensatory upregulation of HGF expression in maintaining leukemogenic signaling by this receptor.

MET

AML

MET

AML


Input: Interleukin-2 enhances scopolamine-induced amnesia and hyperactivity in the mouse.

amnesia

amnesia


Input: Tiparp ADP-ribosylated AHR but not its dimerization partner, the AHR nuclear translocator, and the repressive effects of TIPARP on AHR were reversed by the macrodomain containing mono-ADP-ribosylase MACROD1 but not MACROD2.

TIPARP

mono


Input: The authors assessed the impact of APOE genotype on hippocampal, amygdalar, and global brain atrophy as putative markers of preclinical AD in a nondemented population.

APOE

global brain atrophy


Input: The present study aimed to evaluate whether peripheral POMC expression ameliorated capsaicin-induced acute neurogenic inflammation in rat trachea.

POMC

neurogenic inflammation

POMC

neurogenic inflammation


Input: We further show that 5-aza-2'-deoxycytidine induced reexpression of AP-2alpha in MDA-MB-231 breast cancer cells (wherein AP-2alpha expression is silenced by hypermethylation), resulted in massive apoptosis induction, increased chemosensitivity, decreased colony formation, and loss of tumorigenesis upon chemotherapy.

breast cancer

breast cancer


Input: The protein expression of eight cancer-testis antigens [MAGEA, NY-ESO-1, GAGE, MAGEC1 (CT7), MAGEC2 (CT10), CT45, SAGE1, and NXF2] was evaluated by immunohistochemistry in 61 esophageal carcinomas (40 adenocarcinoma and 21 squamous cell carcinoma), 50 gastric carcinomas (34 diffuse and 16 intestinal type), and 141 colorectal carcinomas.

esophageal


Input: Mice lacking the alpha3 subunit and mice lacking both the beta2 and beta4 subunits, but not mice lacking the beta2 or beta4 subunits alone, have a severe phenotype characterized by megacystis, failure of bladder strips to contract in response to nicotine, widely dilated ocular pupils, growth failure, and perinatal mortality.

megacystis


Input: Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

alpha-sarcoglycan

alpha-sarcoglycan


Input: Brivanib was also tested second line aiming to block adaptive resistance to selective VEGF therapies, assessing tumor growth, vascularity, hypoxia, invasion, and metastasis.

VEGF

hypoxia


Input: Furthermore, among 2422 genes that correlated with the degree of necrosis in GBMs, transcription factors known to drive the mesenchymal expression class were most closely related, including C/EBP-β, C/EBP-δ, STAT3, FOSL2, bHLHE40, and RUNX1.

C/EBP-δ

necrosis


Input: Up-regulation of CYP26A1 in adenomatous polyposis coli-deficient vertebrates via a WNT-dependent mechanism: implications for intestinal cell differentiation and colon tumor development.

colon tumor

colon tumor


Input: HIF appears to play a particular role for the kidney, where renal EPO production, organ preservation from ischemia-reperfusion injury and renal tumorigenesis are prominent examples.

EPO

tumorigenesis


Input: The aim of this study was to investigate the hypothesis that FGFRL1 gene expression in the diaphragm is downregulated during the later gestational stages in the nitrofen CDH model.

CDH

CDH


Input: Our study is involved in the global analysis of serum miRNAs during the normal-colorectal adenoma (CA)-CAC sequence.

CAC

colorectal adenoma


Input: High DNMT1 and DNMT3b expression was found in 105/127 (83%) and 79/127 (62%) carcinomas, respectively.

carcinomas

carcinomas


Input: Populations of CD68 positive macrophage-like cells within the granulomas produce mRNA for TNF-alpha, IFN-gamma, and IL-4.

IFN

granulomas


Input: This study examined associations between child catechol-O-methyltransferase genotype and aspects of positive parenting (responsiveness and warmth), and whether these associations were moderated by parental personality traits (neuroticism and extraversion) among a general community sample of third, sixth, and ninth graders (N = 263) and their parents.

catechol-O-methyltransferase

personality traits


Input: We also observed that tumors presenting the higher expression levels of HJURP are associated with poor survival prognosis, indicating HJURP overexpression as an independent prognostic factor of death risk for astrocytoma patients.

HJURP

astrocytoma


Input: The pathogenesis of BM abnormalities was studied in wild-type (WT), TNFα (-/-), Toll-like receptor-deficient (TLR-7 (-/-)), interferon (IFN)-α/β/ω receptor-knockout (IFNAR (-/-)), and B cell-deficient (μmt) mice treated with pristane.

IFNAR

abnormalities


Input: To test whether perturbations of DSG2 or DSC2 exhibit a pathogenic impact on DCM pathogenesis, we sequenced both genes in 73 patients with FDCM and assessed prevalence of missense variations in matched control cohorts.

FDCM

FDCM


Input: Long-term persistence of ex vivo-expanded tumor-specific CD8 + T effector clones has been reported in refractory metastatic melanoma patients after adoptive T-cell transfer.

metastatic melanoma


Input: Pathway-selective ligands for the estrogen receptor (ER) inhibit NF-kappaB-mediated inflammatory gene expression causing a reduction of cytokines, chemokines, adhesion molecules, and inflammatory enzymes.

estrogen receptor

adhesion


Input: Culture in vitro for 24 h under hypoxic conditions resulted in a 2-to 6-fold increase in VEGF secretion by both stromal and epithelial cells isolated from human endometrium.

VEGF

hypoxic


Input: Intraventricular administration of FSH, ACTH or prolactin caused hyperthermia, increased metabolism and/or cutaneous vasoconstriction.

prolactin

hyperthermia

prolactin

hyperthermia


Input: The results suggest that the autocrine and paracrine functions of Epo might play a role in malignant transformation of melanocytes and in the survival of melanoma cells in hypoxia and other adverse conditions.

Epo

melanoma

Epo

melanoma


Input: We showed that expression of BCR-ABL1 correlates with decreased level of BRCA1 protein, which promoted aberrant mitoses and aneuploidy as well as altered DNA damage response.

aneuploidy


Input: We now demonstrate a previously unrecognized role for the gap junction protein connexin43 (Cx43) in the regulation of phagocytosis by macrophages and in the host response to bacterial infection of the peritoneal cavity.

bacterial infection


Input: Mutation of membrane type-1 metalloproteinase, MT1-MMP, causes the multicentric osteolysis and arthritis disease Winchester syndrome.

Winchester syndrome

Winchester syndrome


Input: A synthetic TLR4 antagonist, TLR4A, significantly reduced fusobacterial-induced fetal death and decidual necrosis without affecting the bacterial colonization in the placentas.

necrosis


Input: The mucosal levels of PGE (2) and COX-2 mRNA expression were significantly lower in the ulcer patients than those in the nonulcer patients, whereas the LTB (4) level was significantly higher in the ulcer patients than that in the nonulcer patients, and it was also significantly lower in the ulcerated mucosa than that in the nonulcerated mucosa.

LTB

ulcer


Input: We observed that mice treated with Orlistat 48 hr after the inoculation of B16-F10 cells exhibited a 52% reduction in the number of mediastinal lymph node metastases, in comparison with the control animals.

lymph node metastases


Input: We identified a significant risk region for alcohol and nicotine codependence between IPO11 and HTR1A on chromosome 5q that was reported to be suggestively associated with alcohol dependence previously.

alcohol dependence

alcohol dependence


Input: Homozygous null mutations in ABCA4 produced a severe widespread retinal degeneration that showed marked central retinal involvement.

retinal degeneration


Input: The location of SAH relative to necrosis and bacterial colonies was determined by immunohistochemistry.

SAH

necrosis


Input: Transfection of siRNA-targeting SEMA3B and SEMA3F in endometrial cancer cells attenuated P4 or 1, 25 (OH) (2) D (3)-induced growth inhibition.

endometrial cancer

endometrial cancer


Input: Pharmacological inhibition of Akt, but not the Akt substrate mTOR, inhibited hypoxia-and TGFβ-induced pulmonary vascular rarefaction and fibrosis.

TGFβ

hypoxia


Input: We found that both clarithromycin and dexamethasone up-regulated the production of anti-inflammatory mediators (Clara cell 10-kDa protein and interleukin (IL)-10), whereas down-regulated the production of Th2 response and eosinophilia promoting molecules (thymic stromal lymphopoietin, IL-25, IL-33, CD80, CD86, OX40 ligand, programmed cell death ligand 1, CCL17, CCL22, CCL11, CCL5, IL-5, IL-13, and eosinophilic cationic protein) and Th1 response and neutrophilia promoting molecules (CXCL8, CXCL5, CXCL10, CXCL9, interferon-γ, and IL-12), from sinonasal mucosa from distinct phenotypic CRS.

neutrophilia


Input: A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene.

osteoporosis pseudoglioma syndrome

osteoporosis pseudoglioma syndrome


Input: These results identify G-richness as one feature of genomic structure that can contribute to genomic instability in AID-positive B-cell malignancies.

AID

genomic instability


Input: To assess the potential role of SOX2 in melanoma growth, an in vivo tumorigenesis assay was used.

tumorigenesis


Input: Thus, the administration of FGF2 in combination with BMT synergistically improves CCl (4)-induced liver fibrosis in mice.

liver fibrosis

liver fibrosis


Input: The decreased activity of GAD65 and increased levels of glutamate may have a causative role in astrocytic hypertrophy evident in cln3-knockout mice, and in altered expression of genes involved in the synthesis and utilization of glutamate that underlie a shift from synthesis to utilization of glutamate.

hypertrophy


Input: To determine the role of signaling through p38 MAPK in nucleus pulposus cell' s response to inflammatory cytokines and whether it might be a valid target for the development of molecular therapies for disc degeneration.

cell' s

disc degeneration


Input: Compensatory hypersecretion suggests that the small pancreas of HNF1B mutation carriers is attributable to hypoplasia, not atrophy.

atrophy


Input: It presents with frequent DNA microsatellite instability (MSI), but the frequency of low-level (MSI-L) and high-level MSI (MSI-H) and the expression of mismatch-repair (MMR) enzymes in serrated adenocarcinoma are not known.

MMR

microsatellite instability


Input: While studying renal phenotypes of children with HNF1B mutations, we identified a teenager who presented with tetany and hypomagnesemia.

tetany


Input: These findings suggest that the variant DRD2 genotypes are associated with a greater likelihood to smoke and a greater smoking intensity, as well as with a familial aggregation of smoking-related cancers.

smoking


Input: We examined the influence of functional genetic variants in DAT1 on cocaine addiction.

cocaine addiction

cocaine addiction


Input: We genotyped two polymorphisms, CYP1A1 * 2A and CYP1A1 * 2C, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in a hospital-based case-control study including 192 infertile patients with non-obstructive azoospermia or severe oligozoospermia and 226 fertile controls.

infertile


Input: Therefore, treatment with HDAC-inhibitors might be an option for patients with advanced renal cell carcinoma and acquired everolimus resistance.

HDAC

advanced renal cell carcinoma


Input: Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t (7; 21) in myelodysplastic syndrome and acute myeloid leukaemia.

translocation


Input: Common genetic variation in IGF1 is strongly associated with percentage mammographic density.

mammographic density


Input: This cell line revealed no microsatellite instability (MSI), which points to the expression of a functional MLH1 protein and an active mismatch repair (MMR) system.

MMR

microsatellite instability


Input: A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

keratin 5

epidermolysis bullosa simplex with migratory circinate erythema

keratin 5

epidermolysis bullosa simplex with migratory circinate erythema


Input: Elevated beta2-adrenoceptor protein concentration in adipose tissue from obese subjects is closely related to the body mass index and waist/hip ratio.

body mass index


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

depression

depression


Input: UCHL1 is expressed in all normal tissues and immortalized normal epithelial cell lines, but was low or silenced in 77% (10/13) of HCC cell lines, which is well correlated with its promoter methylation status.

HCC

HCC


Input: In contrast, BACE1 expression by reactive astrocytes was evident in chronic but not in acute models of gliosis.

gliosis


Input: In Hep3B cells, hypoxic stimuli upregulated VEGF and EPO, but not Ang-1 or Ang-2.

VEGF

hypoxic


Input: We conclude from these results that hypoxic regimens that promote PH pathogenesis and HPASMC proliferation reduce PPARγ expression and activity through ERK1/2-, p65-, and Nox4-dependent pathways.

PPARγ

hypoxic


Input: We investigated the inhibitory effect of felodipine on adhesion molecular expression and macrophage infiltration in the aorta of high fructose-fed rats (FFR).

FFR

adhesion


Input: Moreover, in a model of neointima formation invoked by carotid artery endothelial denudation, ApoER2 (-/-) mice display exaggerated neointima development.

neointima


Input: miR-155 (-/-) mice were protected with significantly lower (4-fold) bacterial burden and no differences in viral load, associated with robust induction of IL-23 and IL-17 (2. 2-and 4. 8-fold, respectively) postsequential challenge with virus and bacteria, compared with WT mice.

viral load


Input: Our results add to a growing body of evidence suggesting that duplications of 17 (p11. 2p11. 2) result in language delay as well as autism and related phenotypes.

autism


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

translocation


Input: We demonstrate that inhibition of AMPK resulting from a hypomorphic mutation that decreases LKB1 expression does not lead to tumorigenesis on its own, but markedly accelerates tumour development in PTEN (+/-) mice.

tumorigenesis


Input: Therefore, the expression of ADAR1 and ADAR2 was analyzed in chordoma tissues.

chordoma


Input: We investigated the localization of pituitary homeo box 1 (Ptx1) protein in five human non-neoplastic pituitaries and 73 of all types of pituitary adenomas using immunohistochemistry, and the expression of Ptx1 messenger RNA (mRNA) in 18 representative pituitary adenomas using the reverse transcriptase polymerase chain reaction (RT-PCR) technique.

non-neoplastic


Input: Here we report that the mitochondrial chaperone Hsp40, also known as Dnaja3 or Tid1, is differentially expressed during cardiac development and pathological hypertrophy.

hypertrophy


Input: Genetic ablation of one allele of Crb2 in heterozygote Crb1 (+/-) retinas induced a mild retinal phenotype, but in homozygote Crb1 knockout mice lead to an early and severe phenotype limited to the entire inferior retina.

mild


Input: Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein A-I and A-II.

lysozyme

Ostertag type amyloidosis

lysozyme

Ostertag type amyloidosis


Input: This study agrees with our previous results performed on acute alcohol intoxication and supports the hypothesis that HSP70 induction protects the different brain areas against oxidative stress.

acute alcohol intoxication

acute alcohol intoxication


Input: The results indicate that TGF-beta induces a decrease of the basal level of fibrinogen and factor VII mRNAs, but does not affect factor X expression.

TGF-beta

fibrinogen


Input: Critical limb ischemia induces the inflammatory reaction triggering the increase in IL-6 and of acute phase protein production.

ischemia

ischemia


Input: While the etiology of the syndrome is currently unknown, abnormalities of CD43 have been described as a biochemical marker of the disease.

abnormalities


Input: We also identified histone demethylase Kdm5b as a novel secondary node in NRL transcriptional hierarchy.

NRL

secondary


Input: Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-related proteins (FHRs) have been described in patients with atypical hemolytic uremic syndrome (aHUS), a rare condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and ARF.

ARF

atypical hemolytic uremic syndrome


Input: DNA sequencing analysis of CRYAA, CRYBB2, CRYGA-D, GJA3, GJA8, and PAX6 of the affected members of a family (C-35) showed a novel heterozygous missense mutation C > A at position 229 in CRYGD in three affected members of family C-35 with anterior polar coronary cataract.

coronary cataract


Input: The ShcA adaptor activates AKT signaling to potentiate breast tumor angiogenesis by stimulating VEGF mRNA translation in a 4E-BP-dependent manner.

ShcA

tumor angiogenesis


Input: MYCN copy number and 1p36 deletion status were determined by fluorescence in situ hybridization (FISH) and real time PCR in a diagnostic pathology laboratory setting on 35 consecutive patients with neuroblastoma.

FISH

neuroblastoma


Input: Expression of apoptosis-related proteins, bcl-2, Bax, Fas and Fas ligand (L), in ovarian epithelial neoplasms together with its clinical relevance was examined by immunohistochemistry.

Fas ligand

epithelial neoplasms


Input: Taken together, these results support a role for mutations and rare deleterious variants in NODAL as a cause for sporadic human LR patterning defects.

NODAL

sporadic


Input: Upregulation of Hsp27, Hsp90 and HspBP1 appears just in case of long-term deteriorated conditions (usually in mild preeclampsia, that enable further continuation of gestation, when properly treated).

preeclampsia


Input: Next, we overexpressed CCL2 in the U87 glioma line, which has low basal level of CCL2, to investigate the hypothesis that glioma-secreted CCL2 interacts with microglia to affect glioma growth.

glioma


Input: We conclude that CT-1 is a master regulator of fat and glucose metabolism with potential applications for treatment of obesity and insulin resistance.

obesity

obesity


Input: We investigated five cases of cardiac myxoma and one case of cardiac undifferentiated sarcoma by light and electron microscopy, in situ hybridization, immunohistochemical staining, and reverse transcriptase-polymerase chain reaction for cardiomyocyte-specific transcription factors, Nkx2. 5/Csx, GATA-4, MEF2, and eHAND.

eHAND

undifferentiated sarcoma


Input: In a recent report that we have made, based on open-ended lncRNA pulldown technology and a series of systematic analyses, we suggest that lncRNAs also play critical roles in the regulation of noncanonical Hedgehog/GLI 2 signal transduction pathways in cancer cells, which further broadens the scope of known lncRNA functions and aids in the discovery and design of more effective and evidence-based therapeutic targets for the treatment of human cancers and other diseases.

GLI

aids


Input: According to our results, the BRCA gene mutation status (mainly BRCA1) would contribute to the genomic profile of abnormalities by increasing or modulating the genome instability.

genome instability


Input: However, we have previously demonstrated that induction of VEGF by hypoxia was preserved when HIF-1alpha was silenced.

VEGF

hypoxia


Input: Without Wnt stimulation, β-catenin forms a complex with axin (axis inhibitor), adenomatous polyposis coli (APC), casein kinase 1α (CK1α), and glycogen synthase kinase 3β (GSK3β) and undergoes phosphorylation-dependent ubiquitination.

adenomatous polyposis coli


Input: This suggests a novel role for CITED2 in human adrenal growth and possibly in adrenal tumorigenesis.

tumorigenesis


Input: Our results suggest that epigenetic inactivation of SOCS-1 may be a complementary mechanism to the JAK2V617F mutation in the pathogenesis of MPD that leads to dysregulation of JAK-STAT signal transduction and thus contributes to growth factor hypersensitivity.

hypersensitivity


Input: In addition, CETP expression did not normalize other characteristics of SR-BI deficiency, including female infertility, reticulocytosis, thrombocytopenia, and impaired platelet aggregation.

SR-BI

female infertility


Input: Conversely, gain of FGF23 function by injection of wild-type mice with recombinant FGF23 or by elevated circulating levels of endogenous Fgf23 in Hyp mice increases distal tubular Na (+) uptake and membrane abundance of NCC, leading to volume expansion, hypertension, and heart hypertrophy in a αKlotho and dietary Na (+)-dependent fashion.

heart hypertrophy


Input: S1P is associated with protection in human and experimental cerebral malaria.

cerebral malaria


Input: Although the importance of obesity in colon cancer risk and outcome is recognized, the association of body mass index (BMI) with DNA mismatch repair (MMR) status is unknown.

MMR

body mass index


Input: Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome


Input: These findings indicate specific prodynorphin amygdala impairment in association with mood disorder.

prodynorphin

mood disorder

prodynorphin

mood disorder


Input: Comparative monitoring of MRD by RQ-PCR for the Wilms' tumor gene 1 (WT1) or specific translocation markers demonstrated that BAALC had similar kinetics as WT1, AML1/ETO and minor BCR/ABL, but not PML/RARA.

translocation


Input: Microsatellite markers may provide evidence of faulty DNA mismatch repair (MMR) via the detection of microsatellite instability (MSI).

MMR

microsatellite instability


Input: Overexpression of PRR11 was observed in esophageal, gastric, pancreatic, colorectal, and hilar cholangiocarcinoma.

esophageal


Input: The immunoreactivity for debrin in stratum lucidum of hippocampus CA3 area increased 7 days after ischemia.

ischemia


Input: Somatic PTPN11, KRAS, and RAF1 mutations occur (although at different frequencies) in a variety of sporadic neoplasms, but whether SOS1 mutations are associated with human cancer has not been evaluated.

sporadic


Input: In this study, we reported that hypoxia could induce HIF-1α and VEGF expression accompanied by Rac1 activation in MCF-7 breast cancer cells.

VEGF

hypoxia


Input: In the present study of normal subjects with nonfatty livers and patients with steatosis, diabetic cirrhosis, and alcoholic cirrhosis, we sought to determine SULT1A1, SULT2A1, SULT1E1, and SULT1A3 activity and mRNA and protein expression in human liver tissue.

alcoholic cirrhosis


Input: Results of the present studies demonstrate a significant reduction in the B (max) value of [3H] cyclic AMP binding to the regulatory subunit of PKA in the supernatant fraction of fibroblasts from patients with major depression with no change in the K (d) values.

AMP

major depression

AMP

major depression


Input: To investigate the relationship between aquaporin-5 (AQP5) expression and mucus overproduction in the airways of Chinese patients with chronic obstructive pulmonary disease (COPD) and the correlation with pulmonary function change.

pulmonary function


Input: Similarly, immunohistochemical staining of 82 HCC samples showed that IQGAP2 protein expression was reduced in 64/82 (78. 0%), while IQGAP1 was present in 69/82 (84. 1%).

HCC

HCC


Input: We previously reported the suppressive effect of cinacalcet on PTH secretion in vivo in a PHPT model mouse, in which parathyroid-targeted overexpression of the cyclin D1 oncogene caused chronic biochemical hyperparathyroidism and parathyroid cell hyperplasia.

cyclin D1

hyperplasia

cyclin D1

hyperplasia


Input: The results indicate that the estimation of ODC activity and polyamines in human breast carcinoma might be useful to determine tumor aggressiveness and suggest that ODC may have a potential value as both a prognostic factor and a chemoprevention target in human breast cancer.

ODC

aggressiveness


Input: Follicular lymphoma (FL), an indolent neoplasm caused by a t (14; 18) chromosomal translocation that juxtaposes the BCL2 gene and immunoglobulin locus, has a variable clinical course and frequently undergoes transformation to an aggressive lymphoma.

BCL2 gene

chromosomal translocation


Input: Moreover, in patients with tumour recurrence and/or metastases, cyclin H positivity was significantly associated with reduced disease-specific survival (p = 0. 016) regardless of risk-classification.

cyclin H

metastases


Input: We investigated whether Th1, Th22 and Th17 cells mediated cellular immunity at the local site of M. tuberculosis infection in patients with tuberculous pleurisy (TBP).

tuberculosis infection


Input: The translocation t (X; 18) (p11. 2; q11. 2) characterizes synovial sarcoma, fusing the SYT gene at 18q11. 2 to either SSX1 or SSX2 at Xp11. 2.

translocation


Input: Our findings show that the 8; 21 translocation, its variants, and the masked t (8; 21) may all be detectable by the Southern hybridization method using the AML1 probes.

translocation


Input: Univariate and multivariate analysis by Cox regression including PAK1 and other prognostic pathological markers demonstrated high PAK1 immunostaining as a prognostic factor for survival in pancreatic cancer patients (P < 0. 005).

regression


Input: In poor prognosis acute myeloid leukemia (AML), the combination of fludarabine with Ara-C and granulocyte colony-stimulating factor (G-CSF) has proven to be a highly effective regimen.

granulocyte colony-stimulating factor

acute myeloid leukemia

granulocyte colony-stimulating factor

acute myeloid leukemia


Input: Western blotting showed that prenatal alcohol exposure at the dose of 3 g/kg/day also inhibited TrkB phosphorylation in the hippocampus although no changes in total TrkB protein levels were observed in any region examined.

TrkB

prenatal alcohol exposure

TrkB

prenatal alcohol exposure


Input: In conclusion, this screen of DNA repair genes implicates PRKDC and POLQ as candidate tumor suppressor genes involved in breast cancer and suggests that inactivating mutations in RAD50 predispose to pancreatic cancer as well as breast cancer.

POLQ

pancreatic cancer


Input: Many pro-apoptotic factors, such as nuclear factor-kappa B (NF-κB) and Fas, play crucial roles in the process of Leydig cell apoptosis, ultimately leading to male sterility, such as in Sertoli cell only syndrome (SCO) and hypospermatogenesis.

NF-κB

hypospermatogenesis


Input: The branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the association of branchial cysts or fistulae, external ear malformation and/or preauricular pits, hearing loss, and renal anomalies.

BOR

branchial cysts


Input: In this report, we studied a family affected with acrokeratosis verruciformis in six generations and identified a heterozygous P602L mutation in ATP2A2.

acrokeratosis verruciformis

acrokeratosis verruciformis


Input: Augmentation of disease risk was found for the complex genotype HM74 [A, any] + MCHR1 [T, any] + MCHR2 [C, any] which conferred an OR maximal for the combined diagnostic category of schizophrenia plus bipolar disorder (1. 70, p = 0. 003), carried by 30% of the cases.

schizophrenia

schizophrenia


Input: The expression levels of proteins involved in cellular cytoskeleton (F-actin capping, & #946;-tubulin, & #945;-tubulin isotypes 1 and 2, vinculin, vimentin and two Ras-related protein Rab-7b isotypes), glycolysis pathway (glyceraldehyde-3-phosphate dehydrogenase, lactate dehydrogenase and two pyruvate kinase isotypes) and cellular-related antioxidant system (manganese superoxide dismutase) and even the expression and activity of glutathione-S-transferase were significantly reduced in platelets from ACS patients compared to CAD patients.

vinculin

ACS

vinculin

ACS


Input: Double-blind, placebo-controlled, multicenter, randomized, phase IIb neoadjuvant study of letrozole-lapatinib in postmenopausal hormone receptor-positive, human epidermal growth factor receptor 2-negative, operable breast cancer.

human epidermal growth factor receptor 2

blind


Input: Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS.

GAMOS

GAMOS


Input: Using polymerase chain reaction and DNA sequencing, gene polymorphisms of TLR4 (Asp299Gly and Thr399Ile) and TLR2 (Arg753Gln) in 59 children with sepsis, 38 children with severe sepsis (including 20 septic shock) and 57 healthy controls were analyzed.

septic shock


Input: In the active screening, CLIP-PCR identified 14 infections, including 4 asymptomatic ones, with < 500 tests, costing < US $0. 60 for each sample.

CLIP

asymptomatic


Input: Circulating levels and clinical significance of soluble CD86 in myeloma patients.

myeloma

myeloma


Input: The decrease in HMGN5 expression in human glioma U251 and U87 cells caused cell cycle arrest in the G1 phase and a delay in cell proliferation, as well as resulting in more apoptosis and an inhibition of clonogenic growth in soft agar in U251 cells; these results suggest that HMGN5 is required for tumorigenesis in vitro.

glioma


Input: Fourteen and 24 patients, including ours, with acute myeloblastic leukemia associated with a t (1; 11) (p32; q23) and a t (11; 17) (q23; q21), respectively have been reported in the literature.

acute myeloblastic leukemia


Input: Two mutations initially reported as causing Dent-2 disease were identified in patients, including two brothers, presenting with Lowe syndrome thus extending the clinical variability of OCRL1 mutations. mRNA levels, protein content, and PiP (2)-ase activities were analyzed in patient' s fibroblasts.

Lowe syndrome

Lowe syndrome


Input: Loss of heterozygosity (LOH) was found in 41% of 93 carcinomas without microsatellite instability (RER (-)), but no mutations were found by genomic sequencing.

RER

carcinomas


Input: Cells defective in BRCA1 show genomic instability as evidenced by increased radiosensitivity, the presence of chromosomal abnormalities and the loss of heterozygosity at many loci.

genomic instability


Input: Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia

hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia


Input: Polymorphisms in copper/zinc superoxide dismutase (CuZn-SOD), manganese superoxide dismutase (MnSOD), glutathione-S-transferase M1 (GSTM1), and glutathione-S-transferase T1 (GSTT1) in the umbilical cord tissue were assayed by polymerase chain reaction (PCR) in 23 nulliparous preeclampsia cases and 32 nulliparous normotensive controls.

preeclampsia


Input: In order to investigate the role of soluble CD44 (CD44 (sol)) in colon cancer cell growth, SW620, a human colon cancer cell line deficient in CD44 expression was stably transfected with human CD44 cDNA containing exons 1-5, 15 and 16 of the human CD44.

sol


Input: Increased expression of p21, p27, and ER-alpha is seen in inclusion cyst compared with ovarian surface epithelium of women with and without an inherited risk of adnexal carcinoma.

ER-alpha

inclusion cyst


Input: Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria.

polyposis


Input: These results indicate that the TRPM8 receptor is involved in cold-induced mucus hypersecretion through the Ca (2 +)-PLC-PIP2-MARCKS signaling pathway.

cold


Input: Although reduction of Dkk-1 expression by RNA interference was able to upregulate the expression of beta-catenin, c-Myc, and cyclin D1 in H7402 cells, it also promoted beta-catenin translocation from cytoplasm into nuclei and increased the migration of the cells.

translocation


Input: In the present study, we report that IGFBP-3 protein levels were either undetectable (28. 5%) or low (71. 5%) in human HCC samples examined compared with matched non-neoplastic liver tissue by Western blotting.

HCC

non-neoplastic


Input: Therefore, impaired 11beta-HSD2 protein stability rather than reduced gene expression or loss of catalytic activity seems to be responsible for the development of hypertension in some individuals with AME.

AME

AME


Input: Some common single nucleotide polymorphisms (SNPs) in genes of the IGF pathway have also been suggested to play a role in mammographic density.

IGF

mammographic density


Input: FOXP1, the AR and various hypoxia-regulated proteins (HIF-1alpha, HIF-2alpha, and VEGF) were measured with immunohistochemistry using a tissue microarray constructed from 167 archival radical prostatectomies.

VEGF

hypoxia


Input: A total of 205 hypertensive patients (60 ± 8 years) underwent echocardiography with assessment of cardiac morphology, LV systolic (strain and strain rate) and diastolic function (peak early diastolic mitral flow velocity/peak late diastolic mitral flow velocity (E/A) ratio, peak early diastolic myocardial velocity (Em), and E/e' ratio (where e' is the peak early diastolic mitral annular velocity)), evaluation of serum procollagen type III amino-terminal propeptide (PIIINP) and procollagen type I carboxy-terminal propeptide (PICP)-markers of fibrosis and the PPARGC1A Gly482Ser genotyping.

fibrosis


Input: A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

metatropic dysplasia

metatropic dysplasia


Input: We suggest that parental imprinting may play a role in the ethiology of HSCR caused by mutations in the RET protooncogene.

RET

HSCR

RET

HSCR


Input: In multiple logistic regression analysis, AA homozygote in FTO was associated with higher odds of overweight (BMI ≥ 25 kg/m (2)) in young (OR 1. 73 (95% CI 1. 06-30. 0)) and middle-aged women (OR 1. 73 (95% CI 1. 06-30. 0)).

FTO

overweight


Input: Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV α3α4α5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning.

retinopathy


Input: Methylation in the hypoxia response element of the NOS3 promoter was increased in IUGR-HUAEC and decreased in HUVEC.

hypoxia


Input: Associations have been reported between the serotonin transporter (5-HTT) and aggression, and between socioeconomic status (SES), aggression, and serotonergic functions of the brain.

aggression


Input: Additionally, an age-dependent decrease in Cisd2 expression has been detected during normal aging.

aging


Input: HDAC7 knockdown inhibited hypoxia-induced HIF-1α activity in U937 cells, and HIF-1α nuclear translocation and HIF-1α binding to the VEGF promoter in A549 cells.

VEGF

hypoxia


Input: The results suggest that mutated p21 ras provided the human keratinocytes with a growth advantage in vivo (benign tumor growth), but acquisition of repair deficiency is required for progression from benign to malignant state.

benign tumor


Input: These preliminary results implicate GABRG2 in suicide and warrant further investigation and replication in larger samples.

suicide


Input: Exposure of wild-type HT1080 cells to 1% hypoxia resulted in HIF-1alpha up-regulation and a 74% increase in VEGF-A secretion as compared with secretion under normoxic conditions.

VEGF-A

hypoxia


Input: The RNA-binding protein Musashi1 affects medulloblastoma growth via a network of cancer-related genes and is an indicator of poor prognosis.

RNA-binding protein

medulloblastoma


Input: SAM administration to carcinogen-treated rats prevents hepatocarcinogenesis, whereas MAT1A-KO mice, characterized by chronic SAM deficiency, exhibit macrovesicular steatosis, mononuclear cell infiltration in periportal areas, and HCC development.

HCC

macrovesicular steatosis


Input: Whereas MBD2 depletion in normal liver cells had little or no effect, we found that its depletion in human HCC and adenocarcinoma cells resulted in suppression of cell growth, anchorage-independent growth and invasiveness as well as an increase in promoter methylation and silencing of several of the genes that are hypomethylated in tumors.

adenocarcinoma


Input: In the present study, we have used a human folliculostellate cell line (PDFS) to explore the signaling mechanisms that cause the translocation of Ser-P-ANXA1 to the membrane together with Western blot analysis and flow cytometry to detect the phosphorylated protein.

translocation


Input: The TNFRSF1A R92Q mutation behaves as a genetic risk factor for MS and other inflammatory diseases, including TRAPS.

TRAPS

TRAPS


Input: To determine ovarian reserve, 42 premenopausal GALT carriers underwent ovarian antral follicle count (AFC) by transvaginal ultrasound and early follicular phase blood sampling for hormonal measurement of follicle-stimulating hormone (FSH), inhibin B, and anti-Müllerian hormone (AMH).

AMH

ovarian reserve


Input: At first, we checked the absence of initial differences in the expression of several gene transcripts involved in the development of morphine dependence in Per2 (Brdm1) mutant mice and in their respective wild-type (WT) control littermates.

morphine dependence


Input: Similarly, immunohistochemical staining of 82 HCC samples showed that IQGAP2 protein expression was reduced in 64/82 (78. 0%), while IQGAP1 was present in 69/82 (84. 1%).

HCC

HCC


Input: Because disturbances in intracellular transport and protein secretion mechanisms are associated with a number of ageing-associated neurodegenerative diseases, cell-permeable PEP inhibitors may be useful for the application in a variety of related clinical conditions.

PEP

ageing


Input: EA2-causing missense and nonsense mutations in CACNA1A produced mutant channels with diminished whole cell calcium channel activity in vitro due to loss of function.


Input: IL-18 was localized by immunohistochemical analysis in brain sections obtained from tuberous sclerosis and encephalitis patients, as well as from gender-and age-matched controls, and in the brain sections of both Reeler and wild-type mice.

tuberous sclerosis


Input: Further, several genome scans for mood disorders, both unipolar and bipolar, have indicated linkage to the chromosomal regions of 5q23-q33. 3, 8p12-p11. 2, 4p16, and 10q24-q26, the location of the adrenergic receptors alpha1B (ADRA1B), beta3 (ADRB3), alpha2C (ADRA2C), alpha2A (ADRA2A), and beta1 (ADRB1).

mood disorders

mood disorders


Input: Amplification analysis and sequencing of genomic DNA of three affected individuals revealed a chromosomal deletion of approximately 84 kb in the RCA gene cluster, resulting in loss of the genes coding for CFHR1 and CFHR3, but leaving the genomic structure of factor H intact.

chromosomal deletion


Input: Considering that nerve growth factor exerts beneficial effects in the treatment of major central and peripheral neurodegenerative diseases, skin and corneal ulcers, we asked whether nerve growth factor could also exert a role in Cyclosporine A-induced graft nephrotoxicity.

nerve growth factor

neurodegenerative diseases

nerve growth factor

neurodegenerative diseases


Input: To examine whether FOXO3a-Sirt1 activation is involved in diabetes-induced cardiomyocyte apoptosis and ventricular hypertrophy.

ventricular hypertrophy


Input: Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.

AGXT

Primary hyperoxaluria type 1

AGXT

Primary hyperoxaluria type 1


Input: To investigate this discrepancy, we evaluated the character of vaccine-induced CD8 (+) T cells with regard to the inhibitory T-cell coreceptors PD-1 and Tim-3 in patients with metastatic melanoma who were administered tumor vaccines.

metastatic melanoma


Input: It is suggested that the initial oncogenic event for most MM tumors is a primary immunoglobulin translocation that dysregulates cyclin D1, cyclin D3, and other oncogenes to provide a proliferative stimulus to postgerminal center plasma cells.

cyclin D3

translocation


Input: Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response.

MIM

neurological disorder


Input: We observed a bimodal increase in pCREB, TORC1 and BDNF protein levels and transient nuclear accumulation of TORC1 in the acute stage of ischemia.

BDNF

ischemia


Input: Cluster 1 correlated strongly with less smoking (P < 0. 001), papillary histology (P < 0. 001), and EGFR mutations (P < 0. 001).

EGFR

smoking


Input: Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8. 8% and 13. 4% of normal, respectively) due to a missense A143T mutation.

alpha-galactosidase A

Fabry disease

alpha-galactosidase A

Fabry disease


Input: The novel DSV (1500G > C) of NKX2-5 gene may contribute to a small number of VSD, and rs2277923 SNP may contribute to the risk of sporadic ASD in Chinese Yunnan population.

NKX2-5 gene

sporadic


Input: In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase.

adrenal insufficiency

adrenal insufficiency


Input: These cases could thus be subdivided into three subgroups: Group I, normal BCL2 genes (i. e., no evidence of translocation or amplification), and BCL2 protein negative; Group II, normal BCL2 genes but BCL2 protein positive; and Group III, presence of other genetic alterations, i. e., BCL2 amplification and trisomy 18, and BCL2 protein positive.

translocation


Input: We uncovered this role for Elf5 through analyses of Elf5 conditional knockout animals, various in vitro and in vivo models of EMT and metastasis, an MMTV-neu transgenic model of mammary tumour progression and clinical breast cancer samples.

EMT

tumour progression


Input: This chromosomal translocation or similar bcl-2 gene rearrangements involving the Ig light-chain genes have been reported to occur in some cases of B-cell chronic lymphocytic leukemia (B-CLL).

bcl-2 gene

chromosomal translocation


Input: Furthermore, though no significant correlation was found between PTEN mutations and histopathological properties of GBM tumors, our findings indicate that localizations of mutations in PTEN gene may have an effect on clinical aggressiveness of GBM tumors.

PTEN gene

aggressiveness


Input: Cyclin D1 overexpression was observed in 26 of 47 (55%) PN hyperplasias, 3 of 4 (75%) papillomas, and 10 of 18 (56%) TCCs.

Cyclin D1

hyperplasias

Cyclin D1

hyperplasias


Input: In cultured vascular smooth muscle cells, Ang II promotes translocation of Atox1 to the nucleus, thereby increasing SOD3 transcription by binding to Atox1-responsive element in the SOD3 promoter.

translocation


Input: We confirmed that the majority of the neutrophil-stimulating activity was IL-8 by 3 different approaches: cross-desensitization experiments with IL-8, melanoma growth-stimulatory activity, and neutrophil-activating peptide 2, stimulation of calcium mobilization in cells transfected with the IL-8 receptor complementary DNA, and inhibition of the activity following pretreatment of the supernatants with an anti-IL-8 antibody.

neutrophil-activating peptide 2

melanoma


Input: Intriguingly, while pretreatment of angiomyolipoma cells with RAD001 attenuated CHOP and BiP induction, apoptotic markers cleaved PARP and caspase-3 and eukaryotic translation initiation factor 2α phosphorylation were increased, along with evidence of increased autophagy.

CHOP

angiomyolipoma


Input: We show that tumors that constitutively express VEGF-A present with different vascular beds than tumors in which VEGF-A is expressed as a response to central hypoxia.

VEGF-A

hypoxia


Input: Furthermore, hMLH1 methylation is significantly associated with increased microsatellite instability in plasma DNA at relapse, providing an independent measure of function of the MMR pathway.

MMR

microsatellite instability


Input: We hypothesize that smoking is related to an increased expression of receptor of advanced glycation end products (RAGE) in gingival tissues of smokers.

RAGE

smoking


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

LHRH

bradycardia

LHRH

bradycardia


Input: The glucocorticoid resistance in vivo in these two patients corresponds to impaired function of the two mutated GR forms in two in vitro assays.

GR

glucocorticoid resistance

GR

glucocorticoid resistance


Input: We now report that aberrant expression of Cdk1 interferes with apoptosis and promotes the formation of polyploid senescent cells during TCS.

polyploid


Input: To determine whether human cells also demonstrate improved radiosensitization similar to that seen with rat glioma cells and tumors, we transduced U87 MG cells with either AdCMV-TK75, AdCMV-TK, expressing wild-type HSV-TK, or Adbetagal and then treated the cells with 3 microM of ACV.

glioma


Input: Juxtaposition of human bcl-2 and immunoglobulin lambda light chain gene in chronic lymphocytic leukemia is the result of a reciprocal chromosome translocation between chromosome 18 and 22.

chromosome translocation


Input: Microdeletions Glu767 (1-bp del), Thr967 (1-bp del), and Leu1446 (2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss.

USH2A gene

mild


Input: Four patients diagnosed with dHMN-V or SS carried known heterozygous BSCL2 mutations (N88S and S90L).

SS

SS


Input: These findings suggest that impaired down-regulation of E-cadherin and beta-catenin protein expression, along with Wnt/beta-catenin signaling pathway activation during the window of implantation, might be one of the potential molecular mechanisms of infertility in patients with endometriosis.

E-cadherin

infertility


Input: To address this issue, we have analyzed wild-type and mutant CASRs harboring R66H, R66C or N583X-inactivating mutations identified in familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroid patients, which were transiently expressed in kidney cells.

CASR

familial hypocalciuric hypercalcemia

CASR

familial hypocalciuric hypercalcemia


Input: Increase in cytokine production (IL-1 beta, IL-6, TNF-alpha but not IFN-gamma, GM-CSF or LIF) by stimulated whole blood cells in postmenopausal osteoporosis.

IL-1 beta

postmenopausal osteoporosis

IL-1 beta

postmenopausal osteoporosis


Input: Transfection splicing assays of SMN minigenes under hypoxia revealed that hypoxia-induced skipping is dependent on poor exon definition due to the SMN2 C > T mutation and suboptimal 5' splice site.

SMN

hypoxia


Input: Mutations in TMEM76 * cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Sanfilippo C syndrome

Sanfilippo C syndrome


Input: The Second Heart Field (SHF) has been implicated in several forms of congenital heart disease (CHD), including atrioventricular septal defects (AVSDs).

SHF

congenital heart disease


Input: We conclude that the structural stability of the N-domain rather than the loss of ATP binding plays a defining role in the ability of ATP7B to reach the trans-Golgi network, thus contributing to phenotypic variability in WD.

WD

WD


Input: In a longitudinal association analysis, the combination of the ALDH2 genotype and pack-years of smoking synergistically increased the risk of airway obstruction.

smoking


Input: Interaction between Gambogic acid and dihydrofolate reductase and synergistic lethal effects with methotrexate on hepatoma cells.

dihydrofolate reductase

hepatoma


Input: In conclusion, our data indicate that miR-132 and miR-15a/16 act as tumor suppressor genes in pituitary tumor by directly targetting Sox5, and imply that these miRNAs have potential as therapeutic targets for invasive pituitary tumor.

pituitary tumor


Input: It seems likely that in the genetically different predisposed hosts, the same antigen (s) may cause the development of sarcoid or tuberculous Th1 response.

sarcoid


Input: Spectral karyotyping (SKY) analysis revealed a balanced translocation, t (4; 17) (q21-q22; p13) in S1-M1-80 and multiple clonal translocations involving chromosome 4 in MCF-7 AdVp3000 and MCF-7 MX.

SKY

translocation


Input: A germline 3938insG mutation in BRCA1 was found in 5 breast-cancer patients, 1 with ductal carcinoma in situ, ovarian cancer and an adenoma of the colon, and in 4/5 colorectal-cancer patients investigated.

adenoma of the colon


Input: CD3, CD4, as well as uPAR mRNA expression were assessed with quantitative real-time polymerase chain reaction in plaque homogenates from 123 patients.

plaque


Input: The genes selected for our investigation are involved in key cellular processes of malignant transformation, including cell cycle control (p16), apoptosis (Death Associated Protein Kinase, DAPK), Wnt signaling (Adenomatous Polyposis Coli, APC), cell-cell adhesion (E-cadherin, E-cad), and DNA repair (O (6)-methylguanine-DNA methyltransferase, MGMT, Werner syndrome gene, WRN).

Werner syndrome gene

cad


Input: Thus, in male CD1 mice, gestational arsenic exposure alone induced liver adenoma and carcinoma, lung adenocarcinoma, adrenal adenoma and renal cystic hyperplasia.

liver adenoma


Input: The t (8; 21) (q22; q22) translocation, present in 10-15% of acute myeloid leukemia (AML) cases results in the production of the AML1/ETO fusion protein.

translocation


Input: We investigated whether the ubiquitous transcription factor Sp1 is abnormally expressed in schizophrenia, and consequently can affect the expression of genes implicated in this disorder.

transcription factor Sp1

schizophrenia

transcription factor Sp1

schizophrenia


Input: Furthermore, this point mutation was present in 91% (31 of 34) of mutant MCAD alleles, indicating that the majority of cases with MCAD deficiency are caused by this type of mutation.

MCAD

MCAD deficiency

MCAD

MCAD deficiency


Input: We show that liver-specific expression of the intracellular domain of Notch2 (N2ICD) in mice is sufficient to induce HCC formation and biliary hyperplasia.

HCC

biliary hyperplasia


Input: Altered TRPC7 gene expression in bipolar-I disorder.

bipolar-I disorder

bipolar-I disorder


Input: Despite substantial hyperbilirubinaemia peak gamma-glutamyl transferase (GGT) remained normal.

GGT

hyperbilirubinaemia


Input: Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving & #946;-III spectrin (SPTBN2), has been described in 3 families.

Spinocerebellar ataxia type 5

Spinocerebellar ataxia type 5


Input: Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.

von Willebrand factor

von Willebrand disease type III

von Willebrand factor

von Willebrand disease type III


Input: Disease status and associated ocular abnormalities were assessed primarily by measurement of visual acuity, color vision, fundus photography, and both full-field and multifocal electroretinography (ERG and mfERG).

ERG

abnormalities


Input: Acromegaly is a unique condition characterized by chronic growth hormone (GH) and insulin-like growth factor-1 (IGF-1) hypersecretion usually due to a pituitary adenoma.

insulin-like growth factor-1

pituitary adenoma

insulin-like growth factor-1

pituitary adenoma