Input: The tumor cells of the cholangiocarcinoma express an epidermal growth factor receptor which plays an important role in the pathogenesis of these tumors.

epidermal growth factor receptor

cholangiocarcinoma

epidermal growth factor receptor

cholangiocarcinoma


Input: Anti-Flt1 also reduced atherosclerotic plaque growth and vulnerability, but the atheroprotective effect was not attributable to reduced plaque neovascularization.

plaque


Input: In this study, we assessed whether the CDKN1B V109G polymorphism was associated with the development of aggressive tumours in 55 consecutive patients affected by MEN1.


Input: We assessed the expression of apoptosis genes (GSK3-B, AKT-1, Bcl-2), inflammatory cytokines (TNFalpha, TNF-RI, TNF-RII, IL-6, IL-6R), anti-inflammatory IL-10, CRP and alphaFP by reverse transcription-polymerase chain reaction (RT-PCR) in 33 HCC, 25 chronic hepatitis and 16 asymptomatic HCV carrier positive for HCV subjects.

asymptomatic


Input: Mice deficient in Mct8 replicate the thyroid hormone abnormalities observed in the human condition.

abnormalities


Input: Our analysis allows to correlate BWS symptoms, like a protruding tongue, indented ears and transient neonatal hypoglycaemia, to an abnormal methylation at the KvDMR1.

protruding tongue


Input: All the PCOS had elevated body mass index, waist circumference, waist-to-hip ratio, fasting insulin, homeostatic model assessment (HOMA) score, and serum TNF-α when compared with controls (p < 0. 05).

TNF-α

waist-to-hip ratio


Input: Cloning and structural analysis of cDNAs for bcl-2 and a hybrid bcl-2/immunoglobulin transcript resulting from the t (14; 18) translocation.

translocation


Input: Cyclooxygenase inhibitors decrease Sp1 expression in cancer cells, and therefore different structural classes of nonsteroidal anti-inflammatory drugs (NSAIDs) were screened for their ability to decrease levels of Sp1, Sp3, and Sp4 and to decrease pancreatic tumor growth and metastasis in an in vivo model.

pancreatic tumor


Input: Treatment with the CDK4 inhibitor PD0332991 was associated with a favorable progression-free rate in patients with CDK4-amplified and RB-expressing WDLS/DDLS who had progressive disease despite systemic therapy.

DDLS

DDLS


Input: Transactive response DNA-binding protein 43 a nuclear protein regulating RNA processing, redistributes to the cytoplasm and forms aggregates, which are the histopathological hallmark of sporadic amyotrophic lateral sclerosis, in affected motor neurons, suggesting that loss-of-function of transactive response DNA-binding protein 43 is one of the causes of the neurodegeneration.

DNA-binding protein

amyotrophic lateral sclerosis


Input: Recent studies have indicated that high-density lipoproteins (HDLs) and their major structural protein, apolipoprotein A1 (apoA1), recovered from human atheroma are dysfunctional and are extensively oxidized by myeloperoxidase (MPO).

MPO

atheroma


Input: Factor V Leiden and/or prothrombin G20210A mutation were much more prevalent in placental versus non-placental stillbirth women (OR 3. 06, 95% CI 1. 07-8. 7).

Factor V Leiden

stillbirth


Input: Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients.

Stormorken syndrome

Stormorken syndrome


Input: We measured SYN and SYNJ1 in an autopsy series of 39 cases with DS and 28 without DS, along with 7 sporadic AD cases.

SYN

sporadic


Input: Suppression of STAT3 activation by a dominant negative molecule in MO7e leukemia cells transduced with mutant c-kit inhibits stem cell factor (SCF)-independent survival and proliferation, accompanied by the down-regulation of Bcl-x (L) and c-myc.

SCF

leukemia


Input: We have identified a novel H1736L missense mutation in the CACNA1A gene associated with the EA2 phenotype.


Input: Two of these trials were conducted without a molecular selection in patients with clinical characteristics (adenocarcinoma histology, never or light smoking) characterized by higher prevalence of EGFR mutation.

EGFR

smoking


Input: Consequently, stabilization of Pdcd4 protein could provide a promising novel avenue for therapeutics targeting inflammation-associated tumors.

inflammation


Input: Absent immuno-expression of LDH-B protein (& lt; 10% cells stained), was seen in 23/26 (88%) breast cancer cases, and in 4/8 cases of adjacent ductal carcinoma in situ lesions.

LDH-B

breast cancer

LDH-B

breast cancer


Input: Most HCC are associated with chronic infection by Hepatitis B Virus while a G & #8594; T mutation at codon 249 of the TP53 gene, R249S, specific for exposure to aflatoxin, is detected in tumors for up to 30% of cases.

HCC

HCC


Input: Systolic (SBP) and diastolic (DBP) blood pressures and heart rate (HR) were recorded in response to 250 mg of caffeine vs placebo (3 mg) during rest and during a stressful mental arithmetic task.

DBP

caffeine


Input: At 24 h of reperfusion, the gp91 (phox)-/-and apocynin-treated mice showed 50% less brain infarction and 70% less cleaved spectrin compared with WT mice.

gp91 (phox

brain infarction

gp91 (phox

brain infarction


Input: Thus, the 5-HT (4) receptor binding was decreased in the Flinders Sensitive Line depression model and in response to chronic paroxetine administration.

5-HT (4

depression

5-HT (4

depression


Input: The associations between EGFR mutation and age, considering sex, smoking and histology, were evaluated using logistic regression models.

EGFR

smoking


Input: Moreover, the in vitro levels of Beclin-1, GRP78, and GADD153 proteins were increased with the prolongation of amino acid starvation (p < 0. 05).

starvation


Input: Foxa2 is required for transition to air breathing at birth.

breathing


Input: This study focused on developing, by in vivo MRI, strategies to measure the level of ER expression in an orthotopic mouse model of human breast cancer.

MRI

breast cancer


Input: Notably, giant, bizarre, and hypogranular promyelocytes expressing CD2, CD34, and HLA-DR appeared at the first relapse and became predominant at the second and third relapses.

giant


Input: The current study was aimed to elucidate the association of thymidylate synthase (TYMS) 5'-UTR 28bp tandem repeat and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T polymorphisms with acute leukemia in South Indian subjects.

UTR

acute leukemia


Input: Therefore, a cohort of 187 pure endometrioid and non-endometrioid endometrial carcinomas, carefully characterized as to clinical and pathological features, was examined for PTEN sequence abnormalities and the immunohistochemical expression of PTEN and the DNA mismatch repair proteins MLH1, MSH2, MSH6, and PMS2.

abnormalities


Input: The frequency of each HLA-DRB1 allele in both groups was compared with that in 81 normally fertile Japanese women who had not experienced pre-eclampsia.

pre-eclampsia


Input: BACKGROUND: Single nucleotide polymorphisms (SNPs) rs1035798 in RAGE gene, rs2073617 and rs2073618 in TNFRSF11B, and rs3732410 in Golgb1 will be investigated on whether there is an association with hemorrhagic stroke (HS) in Chinese population.

RAGE

hemorrhagic stroke


Input: The behavioral phenotype of pituitary adenylate-cyclase activating polypeptide-deficient mice in anxiety and depression tests is accompanied by blunted c-Fos expression in the bed nucleus of the stria terminalis, central projecting Edinger-Westphal nucleus, ventral lateral septum, and dorsal raphe nucleus.

pituitary adenylate-cyclase activating polypeptide

depression

pituitary adenylate-cyclase activating polypeptide

depression


Input: We have discussed insulin receptor substrate-family (IRS) related to insulin resistance, detail downstream signaling effects, GLUT4 vesicle translocation and related events, cytokine-mediated insulin resistance, and feedback control mechanisms.

insulin receptor

translocation


Input: Common measures of hematological traits include red blood cell (RBC) count, hemoglobin concentration (HGB), hematocrit (HCT), mean corpuscular hemoglobin (MCH), MCH concentration (MCHC), mean corpuscular volume (MCV), platelet count (PLT) and white blood cell (WBC) count.

MCH

mean corpuscular volume


Input: The expression pattern of the tight-junction proteins claudin 1-4 and occludin in the esophageal mucosa was investigated by immunofluorescence staining and Western blotting in the controls and esophagitis rats.

occludin

esophagitis


Input: The renal tissue from patients with MGN, MCD, focal segmental glomerulosclerosis, acute tubulointerstitial nephritis, diabetic nephropathy, immunoglobulin (Ig) A nephropathy, hypertensive nephrosclerosis, IgM nephropathy, amyloidosis and glomerulosclerosis were studied for the expression of cytokines (tumor necrosis factor, [TNF]-alpha, interleukin [IL]-1 beta, IL-2, IL-4, IL-8 and IL-10) by reverse transcriptase polymerase chain reaction.

acute tubulointerstitial nephritis


Input: Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.

Fas

Canale-Smith syndrome

Fas

Canale-Smith syndrome


Input: Using enzyme-linked immunosorbent assay (ELISA) dosages, quantitative PCR (qPCR), immunohistochemistry, and flow cytometry, we studied the role of interleukin-33 (IL-33), a recently described cytokine signaling through the ST2 receptor, during visceral leishmaniasis.

visceral leishmaniasis


Input: The identification of novel associations for hair morphology (rs17646946, near TCHH; rs7349332, near WNT10A; and rs1556547, near OFCC1), freckling (rs2153271, in BNC2), the ability to smell the methanethiol produced after eating asparagus (rs4481887, near OR2M7), and photic sneeze reflex (rs10427255, near ZEB2, and rs11856995, near NR2F2) illustrates the power of the approach.

photic sneeze reflex


Input: These studies point out that ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP.

MTP

ABL

MTP

ABL


Input: Except for infertility and hyperthyroidism, unclassified variant-linked ovarian tumours share features with sporadic tumours rather than with BRCA1 pathogenic mutations.

infertility


Input: The shoulder regions of plaques contained numerous ACE-positive macrophage foam cells and lymphocytes.

ACE

foam cells


Input: These data indicate that miR-9 suppresses the expression of cyclin D1 and Ets1 via the binding sites in their 3'-UTR, thus inhibiting the proliferation, invasion and metastasis of gastric cancer.

UTR

metastasis


Input: Several studies have examined the prognostic value of the TP53 Arg72Pro polymorphism (rs1042522) and/or MDM2 SNP309 (rs2279744) in multiple tumors.

multiple tumors


Input: The t (8; 21) (q22; q22) translocation is the most common chromosomal translocation in acute myeloid leukemia (AML), and it gives rise to acute myeloid gene 1 (AML1)-myeloid transforming gene 8 (ETO)-positive AML, which has a relatively favorable prognosis.

chromosomal translocation


Input: Using this model, we demonstrated that in the context of infection with influenza, NECs obtained from smokers create an overall cytokine microenvironment that suppresses the interferon-mediated Th1 response and enhances the TSLP-TARC-mediated Th2 response, with the potential to modify the responses of DCs.

TSLP

influenza


Input: Transcription factor 7-like 2 (TCF7L2) regulates activin receptor-like kinase 1 (ALK1)/Smad1 pathway for development of diabetic nephropathy.

diabetic nephropathy


Input: The infarct to normal heart ratio of Alfatide II tracer for the three treatment groups was significantly higher than that of the control group (3. 94 ± 0. 20 for VEGF group, 3. 77 ± 0. 16 for BMSCs group and 4. 86 ± 0. 08 for the combination group vs. 3. 01 ± 0. 03 for the control group, P < 0. 005, P < 0. 005, P < 0. 0001, respectively).

VEGF

infarct


Input: The age, sex, smoking and drinking status adjusted odds ratio for the ALDH2 Glu/Lys and Lys/Lys genotypes as compared with the Glu/Glu genotype was 3. 43 (95% CI 1. 74-6. 75).

smoking


Input: Three complementary DNA encoding S19 ribosomal protein (S19), laminin-binding protein (LBP), and HLA class I (HLA-I) genes were isolated from a colon tumor-enriched subtraction library.

colon tumor


Input: This was confirmed by enzyme-linked immunosorbent assay in HFpEF patients and controls, and serum IL-16 levels showed a significant association with indices of LV diastolic dysfunction.

diastolic dysfunction


Input: In contrast to astrocytic brain tumors, which show frequent loss of the p16 gene and amplification of the CDK4 gene, alteration of these genes appears to be rare in other neoplasms of the human nervous system.

p16 gene

nervous system


Input: In order to test whether mild undiagnosed CAH is a common predisposing factor, we screened 27 patients with sporadic adrenocortical tumours for CYP21 mutations.

mild


Input: SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer & #160; Susceptibility.

Huriez Syndrome

Huriez Syndrome


Input: This study was carried out to investigate mammary tumorigenesis in growth hormone (GH) deficient spontaneous dwarf rats (SDR).

SDR

dwarf


Input: Importantly, co-overexpression of Sox2 and activated Stat3 (Stat3C) also transforms esophageal basal cells but not the differentiated suprabasal cells.

esophageal


Input: These findings suggest that the Th1 chemokines IP10 and Mig as well as their receptor CXCR3 are potential targets for therapeutic interventions in ischemic nephropathy.

ischemic nephropathy


Input: High levels of MBL are present in the uterine luminal fluid of sterile women, and possible functions for TWEAK and MBL in human implantation are indicated by their protein and mRNA expression in uterine biopsies from infertile and fertile individuals.

MBL

infertile


Input: The expression pattern of the tight-junction proteins claudin 1-4 and occludin in the esophageal mucosa was investigated by immunofluorescence staining and Western blotting in the controls and esophagitis rats.

claudin 1

esophagitis


Input: Targeted knockdown of death-associated protein kinase expression induces TRAIL-mediated apoptosis in human endometrial adenocarcinoma cells.

TRAIL

endometrial adenocarcinoma


Input: Decreased inhibitor of growth 5 expression was detected by immunohistochemistry in colorectal carcinoma, compared with non-neoplastic mucosa and adenoma (P <. 05).

inhibitor of growth 5

non-neoplastic


Input: Association between ACE genotype and ARDS was evaluated as the primary outcome; mortality and severe hypoxemia were examined as secondary outcomes.

ACE

hypoxemia


Input: In a murine thrombocytopenia model, levels of CD40L, CXCL5, CCL5 and EGF decreased with platelet count after immune-mediated destruction, while the cytokine levels increased when the platelet count recovered.

thrombocytopenia


Input: There was a significant increase in both TLR2 and TLR4 surface expression and mRNA levels on monocytes after adjustment for age, body mass index, and waist-to-hip ratio.

waist-to-hip ratio


Input: In addition, this FTO SNP influenced fasting insulin (P = 0. 011), homeostasis model assessment of insulin resistance (P = 0. 038), and an insulin sensitivity index derived from an oral glucose tolerance test (P = 0. 0091).

FTO

insulin resistance


Input: The transmembrane glycoprotein NSP4 functions as a viral enterotoxin capable of inducing diarrhea in young mice.

transmembrane glycoprotein

diarrhea


Input: In addition, we identified an ADOA patient who is a compound heterozygote for two OPA1 missense mutations.

ADOA

ADOA


Input: pS2/TFF1 is a pleiotropic factor involved in mucin polymerization, cell motility, cell proliferation and/or differentiation, and possibly in the nervous system.

nervous system


Input: In addition, CA treatment decreased HIF-1α protein expression and vascular endothelial growth factor (VEGF) expression in mouse tumors and Renca cells exposed to hypoxia in vitro.

VEGF

hypoxia


Input: Rassf1a knockout mice displayed clinical symptoms of inflammatory bowel disease including: increased intestinal permeability, enhanced cytokine/chemokine production, elevated nuclear factor of kappa light polypeptide gene enhancer in B-cells (NF & #954; B) activity, elevated colonic cell death and epithelial cell injury.

inflammatory bowel disease

inflammatory bowel disease


Input: Taken together with the present endolymphatic sac tumor (ELST) study, it is suggested that disorder of V2R signaling in the endolymphatic sac for any reason could be involved in the pathogenesis of endolymphatic hydrops.

endolymphatic sac tumor


Input: We conclude that mutations in MEGF8 cause a Carpenter syndrome subtype frequently associated with defective left-right patterning, probably through perturbation of signaling by hedgehog and nodal family members.

Carpenter syndrome

Carpenter syndrome


Input: However, the expression of miR-183 in the progression of benign liver diseases to HCC and its correlation with clinicopathologic factors remain undefined.

HCC

liver diseases


Input: Several recent studies have reported a sex difference in the impact of COMT genotype on psychiatric and cognitive phenotypes and personality traits.

COMT

personality traits


Input: Expression of IL-1beta, IL-8, IL-10, IL-15 and TNF-alpha occurred in both cardiac sarcoidosis and DCM patients, but IL-4 and IL-5 were not detected in either disease.

cardiac sarcoidosis


Input: The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.

Beare-Stevenson syndrome

Beare-Stevenson syndrome


Input: Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.

GRACILE syndrome

GRACILE syndrome


Input: This data suggests that there is a genetic predisposition to proliferative retinopathy in Type 2 (non-insulin-dependent) diabetes of South Indian origin and that this is determined by polymorphism of the heavy chain immunoglobulin genes located on chromosome 14.

heavy chain

retinopathy


Input: Varicella was the underlying condition in 8 of 37 (22%) patients identified and was often associated with severe GAS disease, including toxic shock-like syndrome.

GAS

toxic shock


Input: In a multivariable model that included only the most statistically significant findings from univariable modeling and adjusted for pigmentary phenotype, back nevi, and baseline features, we found TERT/CLPTM1L rs401681 (P = 0. 004), TYRP1 rs2733832 (P = 0. 006), MTAP rs1335510 (P = 0. 0005), TYR rs10830253 (P = 0. 003), and MX2 rs45430 (P = 0. 008) to be significantly associated with multiple primary melanoma, while NCOA6 rs4911442 approached significance (P = 0. 06).

TYR

nevi


Input: Inner retinal laminar abnormalities, as in other human photoreceptor diseases, can be a feature of ABCA4-RD.

abnormalities


Input: The A allele of the TNF-alpha-308G > A gene polymorphism and the presence of α2-thal3. 7 kb were associated with an increase risk of splenic sequestration events (p =. 001; p =. 046), while the T allele of the IL-8-251A > T gene polymorphism was considered to be a protective factor for splenomegaly events (p =. 032).

T gene

splenomegaly


Input: We previously mapped a Seckel syndrome locus to chromosome 18p11. 31-q11. 2 (SCKL2).

Seckel syndrome

Seckel syndrome


Input: MAD1L1 is a checkpoint gene, and its dysfunction is associated with chromosomal instability.

chromosomal instability


Input: Participants with genotype combinations GC/CC/GG/GG and GG/CT/GG/GG (DDX39B-22/DDX39B-348/TNF-308/IL6-176) had decreased and increased risk of mild malaria, respectively, compared with asymptomatic and uninfected participants.

asymptomatic


Input: When the cells were exposed to heat shock in the presence of fisetin, the induction of HSF1 target proteins, such as HSP70, HSP27 and BAG3 (Bcl-2-associated athanogene domain 3), were inhibited.

shock


Input: In experimental and clinical neuroblastoma NESP55 immunoreactivity was specific for regions of chronic hypoxia.

hypoxia

hypoxia


Input: Serum starvation activates several mitogen-activated protein kinases, but activation of Erk-1/2 is critical for the up-regulation of VEGF mRNA in colon carcinoma cells.

VEGF

starvation


Input: These findings suggest that common allelic variants in CEBPA and CEBPB could influence abdominal obesity and related metabolic abnormalities associated with type 2 diabetes and cardiovascular disease in healthy White Northern European families, although results require independent confirmation.

CEBPA

abnormalities


Input: These results indicate that PSGL-1 is a crucial adhesion molecule for the recruitment of monocytes into adipose tissues in obese mice, making it a candidate for a novel therapeutic target for the prevention of obesity-related insulin resistance.

insulin resistance


Input: Furthermore, exposure to hypoxia reduced CTGF synthesis in response to TGF-beta.

TGF-beta

hypoxia


Input: These results show that expression of the human GPI-anchored CEACAM family genes predisposes mice to acquire and/or retain essential mutations necessary for sporadic colon tumor development.

GPI

sporadic


Input: ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: LHX4, a LIM-homeodomain transcription factor, is required for development of the pituitary and nervous system.

LIM

nervous system


Input: This could elevate blood pressure by increasing the expression of WNK4 thereby stimulating inappropriate salt retention in the kidney by promoting activation of the NCC/NKCC2 ion co-transporters.

NCC

blood pressure


Input: Relative numbers of DLX1-and SHOX2-positive neurons in patients with schizophrenia and bipolar disorder with history of psychosis compared with psychiatric and nonpsychiatric controls.

bipolar disorder

bipolar disorder


Input: Expressions of VEGF mRNA in cultured glioblastomas cells were upregulated by hypoxia, but the sensitivity of the cells to hypoxia was reduced as compared with normal rat astrocytes.

VEGF

hypoxia


Input: It was found that the substitution levels from G to A and from G to C in the TNF-α and IL-6 genes, respectively, were significantly higher in the infertile subjects as compared to that of control group.

infertile


Input: Our data indicate that the NFI family of transcription factors plays a key role in the regulation of both the B-FABP and GFAP genes in malignant glioma cells.

NFI

malignant glioma


Input: TNF-308A was associated with susceptibility to multibacillary leprosy.

TNF

multibacillary leprosy


Input: CTSK markers were genotyped in approximately 3000 perimenopausal Scottish women whose hip and spine bone mineral density (BMD) had been measured by DXA.

CTSK

bone mineral density


Input: There was a significant parallel decrease in ACE2 protein expression, determined by immunohistochemistry, in proximal tubules, a pattern not found in 12 patients with focal glomerulosclerosis or 10 patients with chronic allograft nephropathy.

chronic allograft nephropathy


Input: SLIT3 duplication is a novel association which explains a definitive proportion of the largely unknown etiology of MDD.

MDD

MDD


Input: Mutation of human homologues of DNA mismatch repair (MMR) genes in tumours has been shown to be associated with the phenomenon of microsatellite instability (MSI).

MMR

microsatellite instability


Input: The present study aimed at evaluating the PROP1 and HESX1 genes in a group of patients with septo-optic dysplasia (SOD) and pituitary hormone deficiency (combined-CPHD; isolated GH deficiency-GHD).

pituitary hormone deficiency


Input: As COMT and PRODH are both located on chromosome 22q11, the results also argue against the hypothesis that schizophrenia is associated with a decrease in expression of all 22q11 genes, as had been suggested by the high prevalence of psychosis in people with hemizygous 22q11 deletions.

PRODH

psychosis


Input: Chromosome 12p fluorescence in situ hybridization combined with OCT4, CD30, and glypican 3 immunostains is useful in confirming the diagnosis of ovarian embryonal carcinoma.

ovarian embryonal carcinoma


Input: In addition, our case allowed us to define with more precision the smallest region of overlap (SRO) in all patients reported so far, encompassing only the CREBBP gene, and is useful to confirm and further define the phenotypic characteristics due to duplication of the CREBBP gene, being the first case of interstitial duplication with microcephaly and growth defects reported to date.

SRO

microcephaly


Input: Therapy-related myelodysplastic/myeloproliferative neoplasms with del (5q) and t (1; 11) (p32; q23) lacking MLL rearrangement.

myelodysplastic/myeloproliferative neoplasms


Input: Using RNA-Sequencing and the' grep' command to search the fastq files of the sequence data we found that the translocation resulted in fusion of the genes KAT6B (10q22) with KANSL1 (17q21).

translocation


Input: Leukemia-associated fusion protein AML1-ETO is a product of the chromosome translocation (8; 21) frequently occurred in acute myeloid leukemia (AML).

chromosome translocation


Input: Flavocoxid reduced prostate weight and hyperplasia, blunted inducible expression of COX-2 and 5-LOX as well as the increased production of PGE (2) and leukotriene B (4) (LTB (4)), enhanced pro-apoptotic Bax and caspase-9 and decreased the anti-apoptotic Bcl-2 mRNA.

weight


Input: Our results support CSF2RB as a risk factor common to both schizophrenia and major depression in the Chinese Han population.

major depression

major depression


Input: Inhibition of angiogenesis by cigarette smoke in vitro and in vivo was associated with a reduced expression of hypoxia-inducible factor-1alpha (HIF-1alpha) and vascular endothelial growth factor (VEGF) in hypoxic conditions.

VEGF

hypoxic


Input: Sp1 regulates osteopontin expression in SW480 human colon adenocarcinoma cells.

colon adenocarcinoma


Input: Production by small-cell carcinoma (SCCL) of neurophysins (HNPs) and neurophysin-related cell-surface antigen (NRSA) was examined for two cell lines, for mouse xenografts, and for a resected human tumor, using polyclonal and monoclonal antibodies to vasopressin-associated human neurophysin (VP-HNP) and polyclonal antibodies to vasopressin (VP).

HNP

carcinoma


Input: Previous in vitro studies on prostate cancer cells suggest a role for PAR-2 in prostate cancer metastasis.

PAR

metastasis


Input: CNP and cANF (4-23) reduced infarct size after 25 minutes of global ischemia and 120 minutes of reperfusion, maintaining CPP and left ventricular pressure at preischemic values.

CNP

infarct


Input: The chromosomal translocation t (X; 18) (p11. 2; q11. 2) is tightly linked to the tumorigenesis of synovial sarcoma.

tumorigenesis


Input: Stepwise multiple linear regression indicated that age (P = 0 · 001), body mass index (P < 0 · 001), waist-hip ratio (P = 0 · 032), smoking habits (P = 0 · 001), night-time systolic BP (P = 0 · 040), total cholesterol (P = 0 · 005) and CRP rs3093077 polymorphism (P < 0 · 001) were independently associated with serum hs-CRP levels.

CRP

waist-hip ratio


Input: We also observed a reciprocal relationship between HIF-1alpha and HIF-2alpha expression in hypoxia in these cells: HIF-2alpha siRNA enhanced HIF-1alpha-mediated VEGF expression in MCF-7 cells in response to hypoxia, which could be completely blocked by cotransfection with HIF-1alpha siRNA.

VEGF

hypoxia


Input: The TAP2 codons 379 isoleucine carriers and LMP7 codons 145 lysine carriers were found to be more susceptible to esophageal carcinoma (OR = 2. 74, 95% CI = 1. 15-6. 49, P = 0. 023 for TAP2; OR = 2. 19, 95% CI = 1. 09-4. 37, P = 0. 027 for LMP7).

esophageal carcinoma


Input: The crude and adjusted hazard ratios in univariate and multivariate Cox regression models showed almost 2-folds to 3-folds risk for overall survival against mutant genotypes of tag-SNPs of FOXP3 (rs2232365 and rs3761548) and NF-kB1 (rs28362491 and rs696) genes.

regression


Input: The t (2; 5) (p23; q35) chromosome translocation was demonstrated as part of a complex karyotypic alteration by classic banding and spectral karyotyping (SKY) analyses.

SKY

chromosome translocation


Input: Western blot analysis suggested an up-regulation of CB1R in the dentate gyrus of animals with TLE.

TLE

TLE


Input: In DNA mismatch repair (MMR)-deficient colorectal cancers that exhibit the microsatellite instability (MSI) phenotype, biallelic frameshift mutations in the transforming growth factor β receptor type 2 (TGFBR2) gene occur at high frequency that lead to altered signal transduction and downstream target gene expression.

MMR

microsatellite instability


Input: To provide a base for examining the role of Runx1 in leukemogenesis, we investigated the effects of transient expression of a human RUNX1-CBF2T1 transgene [product of the t (8; 21) translocation in acute myeloid leukemia] in zebrafish embryos.

translocation


Input: In cultured cells, KOR-SA3544 reacted with Ph1-positive ALL cell lines (5/5) and leukemic cell lines with 11q23 translocation (3/11).

KOR

translocation


Input: Among the cognate genes, six including ALG8, DGKE, GNA12, KLF11, LRPAP1, and MMAB are related to multiple genetic diseases such as depressive disorder and Type-II diabetes.

MMAB

depressive disorder

MMAB

depressive disorder


Input: In this study, expression patterns of 15 widely used endogenous RGs (ACTB, TBP, GAPDH, SDHA, HPRT, HMBS, B2M, PPIA, GUSB, YWHAZ2, PGK1, RPLP0, PUM1, MRPL19, and RPL41), and three candidate genes that were selected through analysis of two independent microarray datasets (IL22RA1, TC22, ZNF224) were determined in 23 primary breast tumors and their matched normal tissues using qRT-PCR.

breast tumors


Input: Because these molecular abnormalities occur in disease-and motor neuron-specific fashion and induce fatal epilepsy in mice, we have hypothesized that GluR2 Q/R site-underediting due to ADAR2 underactivity is a cause of neuronal death in sporadic ALS.

abnormalities


Input: Here, we report a novel mutation V37E within the first transmembrane domain of connexin 30 in a spontaneous case of Clouston syndrome.

connexin 30

Clouston syndrome

connexin 30

Clouston syndrome


Input: Here we report the first Tunisian patients: 2 sisters with homozygous NLRP7 mutations (p. E570X) and 1 sporadic case with no mutation in NLRP7.

sporadic


Input: Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene.

MECP2 gene

encephalopathy, myoclonic


Input: This ratio along with Northern blot analysis of muscle specific marker genes such as beta-MHC, MLC-2 and ANF, and the induction of promoter activity of beta-MHC and c-fos genes monitored using chloramphenicol acetyl transferase as a reporter gene confirmed the induction of cardiac hypertrophy upon direct injection of the full-length cDNA of 182 kDa protein.

ANF

cardiac hypertrophy


Input: Fine mapping by genetic association implicates the chromosome 1q23. 3 gene UHMK1, encoding a serine/threonine protein kinase, as a novel schizophrenia susceptibility gene.

serine/threonine protein kinase

schizophrenia

serine/threonine protein kinase

schizophrenia


Input: These data indicate that inactivation of TP53 is a relatively frequent event associated with the blastic transformation of PV and ET and may be responsible for the tumor progression of these disorders.

ET

ET


Input: Human WNT8A mRNA is expressed in NT2 cells with neuronal differentiation potential, while human WNT8B mRNA in diffuse type gastric cancer.

gastric cancer


Input: We hypothesized that IAPP-induced ER stress distinguishes successful versus unsuccessful islet adaptation to insulin resistance.

IAPP

insulin resistance


Input: This study shows that expression of p53, Ki67, and CD30 and loss of CD117 expression fail to predict the presence of clinical metastasis at diagnosis of testicular seminoma and do not correlate with other histopathological risk factors in clinical stage I patients.

testicular seminoma


Input: [Combined effect of recombinant mutant human TRAIL and daunorubicin in inducing apoptosis of leukemia cell and its mechanism].

TRAIL

leukemia

TRAIL

leukemia


Input: This translocation results in the fusion of TEL, a recently described ETS-like gene on 12p13, and AML1, which was shown to be involved in the formation of fusion genes with ETO and EVI1 in myeloid leukemias.

translocation


Input: Androgen insensitivity syndromes represent one cause of human male pseudohermaphroditism related to defects in the androgen receptor.

androgen receptor

Androgen insensitivity syndromes

androgen receptor

Androgen insensitivity syndromes


Input: Family history for dementia was positive (PFH) in 16 patients, negative (NFH) in 17 patients, and unknown (UFH) in 3 patients.

NFH

dementia


Input: Systolic and diastolic blood pressure differed significantly among genotypes for the-14C--> T polymorphism of ABCA1 and the C--> G (Ser2229Cys) polymorphism of ROS1, with the variant T and G alleles, respectively, being related to increased blood pressure.

blood pressure


Input: Since the identification in 1996 of a " gain of function " missense mutation, R122H, in the cationic trypsinogen gene (PRSS1) as a cause of hereditary pancreatitis, continued screening of this gene in both hereditary and sporadic pancreatitis has found more disease-associated missense mutations than expected.

sporadic


Input: The PlA2 allele was not associated with fasting and postprandial glucose, glycated haemoglobin, insulin, proinsulin, C-peptide and calculated indices of insulin resistance or pancreatic beta cell function.

insulin resistance


Input: In a rat model of trinitrobenzene sulfonic acid (TNBS)-induced visceral hypersensitivity, orally administered uroguanylin increased colonic thresholds required to elicit abdominal contractions in response to colorectal distension (CRD).

uroguanylin

hypersensitivity


Input: When these cells were tested for their ability to prevent the development of collagen induced arthritis, both the engineered DR1-CII-Foxp3 and Foxp3 only Tregs significantly reduced the severity and incidence of disease.

arthritis


Input: These results indicate that the GABRA1 gene may play a role in the etiology of bipolar disorders.

bipolar disorders

bipolar disorders


Input: Progressive subcortical gliosis (PSG) is a sporadic and familial dementing disease characterized pathologically by astrogliosis at the cortex-white matter junction, a feature present in some prion diseases.

PSG

sporadic


Input: We propose that 9q34. 11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.

ENG

intellectual disability


Input: Alpha synuclein (SYN) is a central player in the pathogenesis of sporadic and familial Parkinson' s disease (PD).

SYN

sporadic


Input: Our results show that the identified novel heterozygous deletion in the CDKN1B 5'-UTR region associates with a reduction in CDKN1B mRNA levels, a predicted altered secondary mRNA structure, and a reduced CDKN1B 5'-UTR transcriptional activity in vitro.

UTR

secondary


Input: We noted that the CCL25/CCR9 axis in pancreatic cancer cells induced the activation of β-catenin, which enhanced cell proliferation, invasion, and drug resistance.

pancreatic cancer


Input: Mitotic arrest deficient-like 1 (MAD1L1) whose dysfunction is associated with chromosomal instability plays a pathogenic role in a few human cancers.

chromosomal instability


Input: Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Combined deficiency of factor V and factor VIII

Combined deficiency of factor V and factor VIII


Input: Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

protoporphyrinogen oxidase

variegate porphyria

protoporphyrinogen oxidase

variegate porphyria


Input: These findings suggest the possibility that childhood experience of neglect and poor parent-child attachment may have a persistent effect on HPA axis function as an adult, partially contributing, together with genetic factors and other environmental conditions, to both depressive traits and substance abuse neurobiological vulnerability.

HPA

substance abuse


Input: ClC7 Cl (-) channels (Clcn7) are crucial for osteoclastic bone resorption and have heterozygous mutation in autosomal osteopetrosis type II (ADO II) patients.

bone resorption


Input: Thus, in progressive but not in stable proteinuric kidney disease, human PTECs show an attenuated VEGF-A expression despite an activation of intracellular hypoxia response and VEGF signaling pathways, which might be due to a reduced expression of positive coregulators, such as EGF and IGF-1.

VEGF-A

hypoxia


Input: Taken together, these results show that PLZF-ERalpha is a potent repressor of estrogen-regulated gene expression and could be useful in distinguishing estrogen-regulated genes required for the growth of breast cancer cells.

estrogen-regulated gene

breast cancer


Input: VEGF secretion was further inducible by both hypoxia and interleukin 1beta (IL-1beta) and these increases were additive.

VEGF

hypoxia


Input: Do GluA1 knockout mice exhibit behavioral abnormalities relevant to the negative or cognitive symptoms of schizophrenia and schizoaffective disorder?

schizoaffective disorder

schizoaffective disorder


Input: BAT had a sensitivity of 87% and specificity of 100% in diagnosing WVA in mastocytosis patients.

BAT

mastocytosis


Input: Logistic regression analyses established multimerin 1, pro-platelet basic protein, fibrinogen-α, and fibrinogen-β for prognosis of sepsis.

pro-platelet basic protein

fibrinogen


Input: Human U87-MG glioma cells transfected with specific anti-OPN small interfering RNAs (siRNAs) were grafted onto the chicken chorio-allantoic membrane (CAM).

glioma


Input: Data from several human and animal studies imply an important function for HO-1 in the genetic regulation of early, as well as late atherogenesis, and plaque destabilization toward a vulnerable phenotype.

atherogenesis


Input: It is still unclear whether the factor V Leiden predisposes patients to arterial thrombosis and myocardial infarction (MI).

factor V Leiden

arterial thrombosis


Input: Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS).

Weill-Marchesani syndrome

Weill-Marchesani syndrome


Input: We show here that PI3Kγ activates PLCγ, leading to RasGrp/CalDAG-GEF-I & II mediated, Rap1a-dependent activation of integrin α4β1, extravasation of monocytes and granulocytes, and inflammation-associated tumor progression.

RasGrp

tumor progression


Input: The aim of the present work was to investigate expression levels of HCNP-precursor protein (HCNP-pp) mRNA and other cholinergic-related genes in the postmortem amygdala of MDD patients and matched controls (females: N = 16 pairs; males: N = 12 pairs), and in the mouse unpredictable chronic mild stress (UCMS) model that induced elevated anxiety-/depressive-like behaviors (females: N = 6 pairs; males: N = 6 pairs).

HCNP

mild


Input: We searched for associations between common resistin gene variants and factors related to insulin resistance in Asian individuals with high or low blood pressure (BP).

resistin gene

blood pressure


Input: In vitro, after the release of HCC cell lines from serum starvation, the expression of Emi1 APC/C substrates (cyclins A, B) and Skp2 was up-regulated, whereas p27 (Kip1) was down-regulated.

HCC

starvation


Input: Loci on chromosome 10 include MSMB, which encodes beta-microseminoprotein, a primary constituent of semen and a proposed prostate cancer biomarker, and CTBP2, a gene with antiapoptotic activity; the locus on chromosome 7 is at JAZF1, a transcriptional repressor that is fused by chromosome translocation to SUZ12 in endometrial cancer.

endometrial cancer

endometrial cancer


Input: In conclusion, proximal and distal gastric carcinomas show no differences in expression of APC, beta-catenin, or E-cadherin; thus, the observed abnormalities do not seem to contribute to the observed epidemiologic differences between these tumors.

E-cadherin

abnormalities


Input: We carried out cytogenetic and FISH studies on 42 children with ALL in order to know the frequency of this translocation in our population, the incidence of TEL and/or AML1 gene alterations, and their correlation with clinical evolution and prognosis.

translocation


Input: We describe here a systematic analysis of the EPM2A and the NHLRC1 gene sequences in 20 LD families from the Indian population.

LD

LD


Input: This study demonstrates that mice with a targeted deletion of the Mir122a gene possess several key phenotypes of human liver diseases, which provides a rationale for the development of a unique therapy for the treatment of chronic liver disease and HCC.

HCC

liver diseases


Input: Here, we analyzed the expression of IL32 and its implication on HNSCC aggressiveness.

aggressiveness


Input: We recently reported that total Astragalus saponins (AST) possess anti-tumor properties in human colon cancer cells and tumor xenografts.

AST

colon cancer


Input: A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.

keratin 10

annular epidermolytic ichthyosis

keratin 10

annular epidermolytic ichthyosis


Input: To investigate the characteristics and prevalence of poststroke depression (PSD) and poststroke emotional incontinence (PSEI) and the factors related to these conditions at admission and 3 months after stroke.

PSD

stroke


Input: Considering the size of our sample sets (power & #160; & gt; & #160; 90%), our results suggest that the YWHAE does not play a major role in schizophrenia, major depressive disorder or bipolar disorder in the Han Chinese population.

YWHAE

bipolar disorder

YWHAE

bipolar disorder


Input: Tamoxifen is often used in Europe in conjunction with transdermal ERT in hysterectomised women without obvious loss of efficacy or increased risk of thromboembolism.

ERT

thromboembolism


Input: As a proof of principle, the compromised invasive potential of vimentin depleted cells could be rescued upon blocking with β4 integrin adhesion-blocking (ASC-8) antibody or downregulation of β4 integrin in vimentin knockdown background.

ASC

adhesion


Input: Whole section lymphocytic infiltration was studied along with mRNA expression of CD3Z, CD8, CD4, CXCL9, CXCL13, IGHM, FOXP3, SNAI2 and ESR1 by qRT-qPCR in tissue microarray (TMA) cores from the centre of tumour, invasive margin and adjacent normal mucosa.

lymphocytic infiltration


Input: Exome sequencing identifies PDE4D mutations in acrodysostosis.

acrodysostosis

acrodysostosis


Input: In this study skin biopsies from 17 CTCL patients, including 12 mycosis fungoides, four pleomorphic CTCL, and one CD8 + CTCL, were investigated for epidermal IL-8 and IP-10 mRNA expression by RNA in situ hybridization.

mycosis fungoides


Input: We show that increased Cdc7 expression during mammary tumorigenesis is linked to Her2-overexpressing and triple-negative subtypes, accelerated cell cycle progression (P < 0. 001), arrested tumor differentiation (P < 0. 001), genomic instability (P = 0. 019), increasing NPI score (P < 0. 001), and reduced disease-free survival (HR = 1. 98 [95% CI: 1. 27-3. 10]; P = 0. 003), thus implicating its deregulation in the development of aggressive disease.

NPI

mammary tumorigenesis


Input: To develop clinically relevant animal models of ependymoma, we directly injected a fresh surgical specimen from a 9-year-old patient into the right cerebrum of RAG2/severe complex immune deficiency (SCID) mice.

ependymoma


Input: Lipofection-mediated gene transfers were performed with these 3 constructs and a control plasmid, pCDNA3, in 3 human prostate cancer cell lines (LNCaP, DU-145, PC-3) and 5 other cell lines (Cos-1 [monkey kidney], HL-60 [human myeloid leukemia], Hep G2 [human hepatoma], NCI H460 [human lung cancer] and SW 480 [human colon cancer]).

colon cancer


Input: In conclusion, the data suggest a role for MMPs, especially MMP-9, in the pathogenesis of MODS.

MODS

MODS


Input: Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.

epilepsy, ataxia, sensorineural deafness, and tubulopathy

epilepsy, ataxia, sensorineural deafness, and tubulopathy


Input: We identified ten nucleotide variations in the NPPS gene; five of the alterations caused amino-acid substitutions, and two of them were found specifically in OPLL patients.

NPPS

OPLL

NPPS

OPLL


Input: Internal tandem duplication was correlated with higher white blood cell and blast counts, lactate dehydrogenase, relapse-risk score, fever, hemorrhage, coagulopathy, BCR3 isoform, M3 variant subtype, and expression of CD2, CD34, human leukocyte antigen-DR, and CD11b surface antigens.

hemorrhage


Input: In studying their incidence and relationship in primary pulmonary MALT lymphomas, a translocation involving MALT1 and IGH was also identified.

translocation


Input: A case-control-study of 38 pairs of patients with either PRSS1 or SPINK1 mutations showed that the probability of duct dilatation, diabetes and calcification was slightly higher in patients having a SPINK1 mutation.

dilatation


Input: PI3K inhibitors or siRNA knockdown of Akt suppressed the PPARδ transactivation induced by hypoxia and deferoxamine in HCT116 cells, leading to decreased expression of IL-8 and VEGF.

VEGF

hypoxia


Input: The variant c. 5217G > A was found in six unrelated cases (three families and three sporadic cases) and was not found in 400 control X chromosomes, pilot data from the 1000 Genomes Project, or the FLNA gene variant database.

FLNA gene

sporadic


Input: First, we introduced various types of the p53 mutant gene into Hep3B and evaluated the role of p53 in hypoxic responses, including vascular endothelial growth factor (VEGF) production and HIF-1 activation.

VEGF

hypoxic


Input: These adhesion molecules also formed tight protein complexes and synergized with EGF/EGFR to accelerate tumor cell motility and invasion.

EGFR

adhesion


Input: EGFR mutations were more frequently detected in female (P = 0. 009) and non-smoking patients (P = 0. 0001).

EGFR

smoking


Input: We have studied TNF-related apoptosis-inducing ligand (TRAIL) and its membrane-bound (R1-R4) and soluble receptors [osteoprotegerin (OPG)] in gestational membranes to assess their significance in preterm parturition and premature rupture of membranes (PROM).

TRAIL

premature rupture of membranes


Input: Only FU individuals hosted ST7, and ST6/7 infections due to ST7 or ST9 were characterized by multiple intestinal symptoms.

infections


Input: Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung' s disease (HSCR; aganglionosis megacolon).

RET

Hirschsprung' s disease

RET

Hirschsprung' s disease


Input: Fluoxetine response in impulsive-aggressive behavior and serotonin transporter polymorphism in personality disorder.

serotonin transporter

aggressive behavior


Input: CD4 + CD28null T cells are present in increased numbers in the peripheral blood of patients with acute coronary syndrome (ACS) compared with patients with chronic stable angina (CSA).

chronic stable angina


Input: METHODS: The expression of MYH, MSH2, MLH1, and MSH6 proteins was studied by immunohistochemistry in 20 samples (colorectal adenomas or cancer) from 18 patients with biallelic MYH mutation, in 11 samples from patients with germline adenomatous polyposis coli (APC) mutations, in 20 samples from patients with sporadic colorectal cancers, and in 10 samples from patients with normal colonic mucosa without malignancies.

sporadic


Input: Hybridisation accessibility profile of the first 120nt in the coding region of the human EGFR mRNA was determined by hybridising a radiolabelled EGFR transcript to a scanning array of 2684 antisense sequences ranging from monomers to 27-mers.

EGFR

mers


Input: Identification of a transforming MYB-GATA1 fusion gene in acute basophilic leukemia: a new entity in male infants.

MYB

acute basophilic leukemia

MYB

acute basophilic leukemia


Input: All six cases with an isolated BCL2 rearrangement had predominantly interfollicular plasmacytic cells whereas, 6/7 cases without the translocation had concentrations of intrafollicular or perifollicular plasmacytic cells (P < 0. 005), as did the case with BCL2 and BCL6 translocations.

translocation


Input: In Han patients, EGFR-sensitive mutations occurred in female, never-smoking patients with well-differentiated tumors; but for Uighur patients only smoking history showed an obvious correlation.

EGFR

smoking


Input: Indeed, Kv1. 3 channel inhibition increases insulin sensitivity by decreasing inflammatory cytokines and by facilitating the translocation of GLUT4 to the plasma membrane.

Kv1. 3

translocation


Input: Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.

hypoproteinemia


Input: We also assessed by ChIP assay that HIF-1α and GPER are both recruited to the VEGF promoter sequence and required for VEGF promoter stimulation upon hypoxic condition.

VEGF

hypoxic


Input: Circulating CD4 + CD25 + T cells in rheumatic mitral stenosis.

rheumatic mitral stenosis


Input: For dioxin-induced birth defects, mouse or human CYP1A2 in maternal liver protects whereas mouse CYP1A1 and CYP1B1 are inconsequential.

birth defects


Input: There were no significant differences among asthmatic and atopic controls in the frequency of HLA-DRB1 * 11 (25. 6 vs 17. 4%).

atopic


Input: Knockout of the mer gene protected mice from collagen/epinephrine-induced pulmonary thromoembolism and inhibited ferric chloride-induced thrombosis in vivo.

mer

thrombosis

mer

thrombosis


Input: The blisters in bullous impetigo and SSSS are induced by exfoliative toxin that specifically cleaves Dsg1.

blisters


Input: Malignant cells produce an angiogenesis factor, vascular endothelial growth factor (VEGF), which may increase metastatic ability and is up-regulated in the presence of hypoxia.

VEGF

hypoxia


Input: The effect of hypoxia on the expressions of angiogenesis factors as cysteine-rich 61 (Cyr61) and vascular endothelial growth factor (VEGF) and neutrophil chemoattractant as interleukin (IL)-8 in nasal polyp fibroblasts (NPFs), and the role of nuclear factor kappa B (NF-kappaB) in this reaction were investigated.

VEGF

hypoxia


Input: Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.

Schnyder corneal dystrophy

Schnyder corneal dystrophy


Input: The DCX mutation prevalence was 84. 6% (22 of 26) in sporadic SBH patients and 100% (11 of 11) in SBH pedigrees.

DCX

sporadic


Input: & lt; i & gt; VTN & lt;/i & gt;, which encodes vitronectin, an inhibitor of the terminal complement pathway, is implicated as a novel aHUS-associated gene.

vitronectin

aHUS

vitronectin

aHUS


Input: By this method, we examined the CST mRNA expression in 11 cases of gastric cancer, and in all the cases we detected various levels of the expression both in cancer tissues and in uninvolved adjacent tissues.

CST

gastric cancer


Input: Pathologically, hHcys-associated albuminuria, foot process effacement of podocytes, loss of podocyte slit diaphragm molecules, and glomerulosclerosis at the late stage were significantly improved by local ASC gene silencing or by caspase 1 inhibition.

caspase 1

glomerulosclerosis


Input: Such findings support the active role of placental LPL and APOE in the metabolism of maternal lipoproteins and suggest that fetal genes may modulate the risk for problems related to maternal dyslipidemia (preeclampsia, pancreatitis, and future cardiovascular disease).

LPL

cardiovascular disease


Input: Our observation that blockade of CLEC5A-mediated signalling attenuates the production of proinflammatory cytokines by macrophages infected with DV (either alone or complexed with an enhancing antibody) offers a promising strategy for alleviating tissue damage and increasing the survival of patients suffering from dengue haemorrhagic fever and dengue shock syndrome, and possibly even other virus-induced inflammatory diseases.

dengue shock syndrome

dengue shock syndrome


Input: Therefore, we investigated the correlation between CD8 + and FOXP3 + tumor-infiltrating lymphocytes and the pathological complete response (pCR) following neoadjuvant chemotherapy (NAC) in triple-negative breast cancer (TNBC), in conjunction with neoangiogenesis, basal and proliferation markers.

NAC

triple-negative breast cancer


Input: Interactions between two previously studied VDR polymorphisms (rs7968585 and rs2239179) and 25OHD concentrations on metabolic and cardiovascular disease-related outcomes such as obesity-(body mass index, waist circumference, waist-hip ratio (WHR)), cardiovascular-(systolic and diastolic blood pressure), lipid-(high-and low-density lipoprotein, triglycerides, total cholesterol), inflammatory-(C-reactive protein, fibrinogen, insulin growth factor-1, tissue plasminogen activator) and diabetes-(glycated haemoglobin) related markers were examined in the 1958 British Birth cohort (n up to 5160).

C-reactive protein

waist-hip ratio


Input: For the whole group of patients, the number of polypectomies correlated with expression of SCF mRNA (r = 0. 62; P & lt; 0. 005), SCF protein in the NPECs supernatants (r = 0. 39; P & lt; 0. 05) and with density of mast cells in epithelial layer (r = 0. 37; P & lt; 0. 05) and stromal layer (r = 0. 5; P & lt; 0. 01) of nasal polyps.

SCF

nasal polyps

SCF

nasal polyps


Input: There was a significant interaction of NPY genotype group by time and body weight (P = 0. 043 for three-way interaction: time x NPY genotype x body weight) in LDL-cholesterol (LDL-C) concentration among boys.

NPY

body weight


Input: Cox regression modeling identified a subset of genes within the PAX-FKHR expression signature that segregated ARMS patients into three risk groups with 5-year overall survival estimates of 7%, 48%, and 93%.

FKHR

regression


Input: Infantile fibrosarcoma (IFS; also known as cellular congenital mesoblastic nephroma, CMN, when in the kidney) is a rare, undifferentiated tumour often characterized by the ETV6-NTRK3 fusion transcript.

cellular congenital mesoblastic nephroma


Input: MMP-9 agonist, miR-15b mimics and anti-miR-15b mimics were added to the U87 glioma cells for elucidating the mechanisms involved in the curative effects of mangiferin.

glioma


Input: Determination of T-cell receptors of clonal CD8-positive T-cells in myelodysplastic syndrome with erythroid hypoplasia.

erythroid hypoplasia


Input: Genome-wide association study using microsatellite markers suggested SLC23A3, CNPPD1, and FAM134A genes as candidates for schizophrenia susceptibility in the Japanese population.

schizophrenia

schizophrenia


Input: Here we show that HJURP is remarkably overexpressed in a cohort composed of 40 patients with different grade astrocytomas.

HJURP

astrocytomas


Input: To ascertain the specificity of pS2 in prostate cancer tissue, we have used an RT-PCR method from prostate biopsies provided from human malignant and benign prostatic hyperplasia (BPH) tissue.

benign prostatic hyperplasia


Input: To determine the etiologic factors of human oral cancer, we examined the prevalence of microsatellite instability (MSI), the inactivation of mismatch repair (MMR) genes, p53 mutation, and human papillomavirus (HPV) infection (HPV-16,-18, and-33) in 86 Korean oral cancer specimens, including 76 squamous cell carcinomas and 10 salivary gland tumors.

MMR

microsatellite instability


Input: We thus hypothesize that HMGB1 binds mtDNA in the cytoplasm of hypoxic tumor cells and promotes tumor growth through activating TLR9 signaling pathways.

hypoxic


Input: Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria.

phenylalanine hydroxylase

phenylketonuria

phenylalanine hydroxylase

phenylketonuria


Input: L1CAM regulates expression of NBS1, a critical component of the MRE11-RAD50-NBS1 (MRN) complex that activates ataxia telangiectasia mutated (ATM) kinase and early checkpoint response.

telangiectasia


Input: These data suggest that: (a) the hyperostosis and the metaphyseal long bone deformity in the present CMD patient might be explained by osteoclast dysfunction due to impaired expression of the osteoclast-reactive vacuolar proton pump; and (b) a protooncogene c-src was not associated with the pathogenesis of the present CMD patient.

proton pump

hyperostosis


Input: t (14; 18)-(IgH; Bcl-2) translocation, at the major break point region (MBR) and minor cluster region (mcr), were assessed by the polymerase chain reaction (PCR) in tumour DNA obtained from 40 consecutive gastrointestinal MALT lymphoma patients.

translocation


Input: Defective DNA double-strand break repair underlies enhanced tumorigenesis and chromosomal instability in p27-deficient mice with growth factor-induced oligodendrogliomas.

tumorigenesis


Input: Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1.

depression

depression


Input: The extracellular matrix differentially regulates the expression of PTHrP and the PTH/PTHrP receptor in FG pancreatic cancer cells.

PTH/PTHrP receptor

pancreatic cancer


Input: On immunohistochemistry and in situ hybridization, endothelial cells in the plexiform lesions expressed VEGF mRNA and protein and overexpressed the mRNA and protein of VEGFR-2, and the transcription factor subunits HIF-1alpha and HIF-1beta of hypoxia inducible factor, which are responsible for the hypoxia-dependent induction of VEGF.

VEGF

hypoxia


Input: Mechanistically, FRNK blocks eosinophil accumulation, firm adhesion and transmigration by preventing transcription and protein expression of VCAM-1 and CCL26.

adhesion


Input: Cell-imaging and immunoblotting of low-density, detergent-insoluble membrane fractions confirmed that tight junction proteins (occludin, claudin-1 and zona occludens-1) are internalized through an NF-kappaB-dependent pathway.

occludin

zona


Input: We investigated the response of body weight and metabolic factors to behavioral intervention in Japanese women with Trp64Arg mutation in the beta (3) AR gene.

AR gene

body weight


Input: Six SNPs (TCF7L2, SLC30A8, HHEX, CDKN2B, CDKAL1, and MTNR1B) were significantly (P < 6. 9 x 10 (-4)) and two SNPs (KCNJ11 and IGF2BP2) were nominally (P < 0. 05) associated with early-phase insulin release (InsAUC (0-30)/GluAUC (0-30)), adjusted for age, BMI, and insulin sensitivity (Matsuda ISI).

insulin sensitivity


Input: The aim of the present study was to elucidate the effects of ataxia telangiectasia mutated (ATM) kinase on the regulation of the extrinsic tumor necrosis factor-related apoptosis-inducing ligand (TRAIL) receptor 2/DR5-mediated death pathway in human melanoma cells.

telangiectasia


Input: In addition, tissue microarray analyses of TGCTs revealed that expression of Noxa correlates with good clinical prognosis in patients with embryonal carcinoma.

Noxa

embryonal carcinoma


Input: The data suggest that annexins may contribute to ventricular remodeling and annexin V to impaired Ca2 + handling in failing heart.

ventricular remodeling


Input: We tested the hypothesis as to whether alterations in angiotensin-converting enzyme (ACE), ACE2, and neprilysin in serum, urine, and proximal tubules are associated with this increase in mean arterial pressure.

ACE

mean arterial pressure


Input: Carcinomas showed relatively high expression of several genes associated with mammary epithelial cell growth and proliferation (e. g., cyclin D1, PDGFalpha) and relatively low expression of differentiation marker genes (e. g., beta-casein, whey acidic protein, transferrin).

beta-casein

Carcinomas

beta-casein

Carcinomas


Input: C57Bl6 mice were given intrathecal injections of small interfering RNAs to reduce levels of TRPV4, or control small interfering RNAs, along with colonic injections of biopsy supernatants; visceral hypersensitivity was measured based on response to colorectal distension.

hypersensitivity


Input: Our results, along with those of other groups support the use of AAV vectors for the treatment of inherited retinal degeneration.

AAV

retinal degeneration


Input: The orphan nuclear receptor, NR4A2, is a key regulator and potential biomarker for inflammation and represents a potentially valuable therapeutic target.

inflammation


Input: These results identify the AKT1 PH domain and hinge region as functional domains which jointly permit AKT1 translocation and phosphorylation in response to extracellular pressure and distinguish determine the specificity of AKT1 in mediating the effects of extracellular pressure on cancer cell adhesion.

translocation


Input: Female, but not male, TRH-R2 knockout mice exhibit moderately increased depression-like and reduced anxiety-like phenotypes.

TRH

depression

TRH

depression


Input: This mutation caused the mildest form of all androgen insensitivity syndromes ever examined for mutations in the androgen receptor gene.

androgen receptor

androgen insensitivity syndromes

androgen receptor

androgen insensitivity syndromes


Input: Several reports suggest that reduced reelin expression is associated with human mental illnesses such as schizophrenia, mood disorders and autism.

reelin

mood disorders

reelin

mood disorders


Input: In addition, in EAs, alcohol dependence was observed to interact with childhood adverse experiences, and also FKBP5 polymorphisms, to increase the risk for PTSD.

alcohol dependence

alcohol dependence


Input: Primary aldosteronism (PA) is the main cause of secondary hypertension, resulting from adrenal aldosterone-producing adenomas (APA) or bilateral hyperplasia.

APA

secondary hypertension


Input: These results suggest that BTG3 plays an important role in lung tumorigenesis, although the underlying mechanisms are unknown.

tumorigenesis


Input: The p22-phox 242T allele is associated with higher blood pressure levels among subjects with higher USE in an urban Brazilian population.

blood pressure


Input: Our results thus do not implicate the DBH C-1021T polymorphism in the pathophysiology of depressive disorders or personality disorders, yet homozygosity at this locus appears to increase the risk towards personality traits related to impulsiveness, aggression and related disease states, namely adult ADHD.

DBH

personality traits


Input: Epithelial-mesenchymal transition (EMT) was found to be closely related with tumor progression.

EMT

tumor progression


Input: A negative association was found between ANF and diastolic blood pressure, being most pronounced in the low-risk group.

ANF

diastolic blood pressure


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.

bipolar disorder

bipolar disorder


Input: The transcription factor gene CHOP was recently shown to be rearranged in myxoid liposarcoma with t (12; 16) (q13; p11).

myxoid liposarcoma


Input: The study showed that the disease-causing mutation frequencies of MT-RNR1 m. 1555A > G, GJB2, and SLC26A4 were 12. 29%, 14. 62%, and 18. 27% in familial probands and 3. 56%, 18. 63%, and 18. 92% in sporadic patients, respectively.

sporadic


Input: Targeting Id1 and Id3 inhibits peritoneal metastasis of gastric cancer.

gastric cancer


Input: The former translocation results in apoptosis inhibitor 2 gene (API2)-MALT lymphoma-associated translocation 1 (MALT1) fusion.

translocation


Input: However, little is known about the effects of CGRP on gastrointestinal injuries induced by cerebrovascular disease.

CGRP

cerebrovascular disease


Input: Gene silencing of SET7/9 with small interfering RNAs in monocytes significantly inhibited TNF-alpha-induced inflammatory genes and histone H3-lysine 4 methylation on these promoters, as well as monocyte adhesion to endothelial or smooth muscle cells.

adhesion


Input: RET and NTRK1 are receptor tyrosine kinase (RTK) proteins which play a role in the development and maturation of specific component of the nervous system.

nervous system


Input: By simultaneous in situ hybridization and immunocytochemistry, IL-10 mRNA was localized to both CD3 + T cells and CD68 + alveolar macrophages in BAL, with a significantly more prominent T-cell signal in the symptomatic asthmatics compared with control subjects and after allergen challenge compared with diluent challenge of the mild asthmatic subjects.

mild


Input: The recombinant Bifidobacterium infantis containing pTRKH2-PsT/sKDR plasmid enhanced the efficacy of tumor growth suppression and prolongation of survival, increased the necrosis rate of tumor significantly, and could obviously decrease MVD and the signals of blood flow in tumors.

MVD

necrosis


Input: The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B.

NPS

NPS


Input: Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

autosomal dominant optic atrophy

autosomal dominant optic atrophy


Input: HO-1 attenuates Ang II-induced cardiac hypertrophy both in vitro and in vivo, and bilirubin mediates, at least in part, the antihypertrophic effect of HO-1 via inhibition of reactive oxygen species production after Ang II stimulation.

cardiac hypertrophy

cardiac hypertrophy


Input: Histone demethylase JMJD2A drives prostate tumorigenesis through transcription factor ETV1.

tumorigenesis


Input: The percentage of MIF (+) epithelial cells and the numbers of MIF mRNA (+) cells, MIF (+) T cells, and MIF (+) macrophages increased in chronic gastritis, but, in the absence of H. pylori infection, this increase disappeared for all except MIF (+) T cells.

MIF

chronic gastritis


Input: Our study will broaden our knowledge about ATP7B mutations in WD patients in north China, and be helpful for clinical genetic testing.

WD

WD


Input: The low mutational frequency in our study discounts sequence variations in DAL-1/4. 1B as the main mechanism underlying participation of this gene in the neoplastic transformation of meningiomas, and suggests that other inactivating mechanisms, such as epigenetic changes, may participate in DAL1/4. 1B silencing.

4. 1B

neoplastic transformation


Input: Ninety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1).

radixin

optic atrophy 1


Input: Fetal urocortin secretion is increased in term and preterm labor.

urocortin

preterm labor


Input: This further insight into understanding the mechanism responsible for tumor-induced immune suppression highlights the potential application of miR-146a as a novel immunotherapeutic target for HCC.

HCC

immune suppression


Input: In the current study we analysed expression of VEGF and its receptors in human hepatocellular carcinoma (HCC) and investigated the molecular mechanisms of VEGF regulation by hypoxia.

VEGF

hypoxia


Input: In this study, we examined whether Th1 or Th2 cells are important regulators of tenascin-C in experimental allergic asthma utilizing mice with impaired Th1 (STAT4-/-) or Th2 (STAT6-/-) immunity.

allergic asthma


Input: In a cross-sectional, hospital-based setting, we compared the amino acid sequences of NS5A-PKR-binding domain and E2-PePHD in the sera of 104 chronic hepatitis, 44 cirrhosis and 96 HCC patients.

PKR

cirrhosis


Input: In addition, a direct interaction was identified between RAD51 and adenovirus E2 DNA binding protein.

adenovirus


Input: We show that even mild renal failure blunts erythropoietin production and propose the HBS1L-MYB locus as a regulator of erythropoietin.

mild


Input: Immunostaining showed ING4 expression in 38 (63. 3%), 30 (100%), and 60 (100%) cases of normal colonic mucosa, adenoma, and normal intestinal mucosal tissue, respectively.

adenoma


Input: We are the first to demonstrate a direct link between stem cell factor SALL4, SP and drug resistance in leukemia.

stem cell factor

leukemia


Input: The results showed that hypoxia upregulated HIF-1α, GPER and α-SMA expression in CAFs, and induced the secretion of Interleukin-6 (IL-6), vascular endothelial growth factor (VEGF) and connective tissue growth factor (CTGF) in CAFs.

VEGF

hypoxia


Input: The promising therapeutic targets for osteosarcoma patients include: integrin, ezrin, statin, NOTCH/HES1, matrix metalloproteinases (MMPs), m-calpain, and Src, which are involved in tumor cell invasion and metastasis; aldolase A, fructose-bisphosphate, sulfotransferase family 3A, member 1, BCL2-associated athanogene 3, heat shock protein 70 (HSP70), B-cell lymphoma 2-interacting mediator (BIM), polo-like kinase 1, hypoxia inducible factor 1, alpha subunit, minibrain-related kinase, Bcl-xl, caspase-3, midkine, high mobility group box 1 protein (HMGB1), and Beclin1, which are involved in tumor proliferation and apoptosis; met proto-oncogene (hepatocyte growth factor receptor), v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, insulin-like growth factor (IGF)-1R, fms-related tyrosine kinase 4, platelet-derived growth factor receptor, beta polypeptide, IGF-I/II, and c-kit, which are involved in tumor growth; endosialin, VEGF, thrombin, and MMPs, which are involved in tumor angiogenesis; transforming growth factor-α/β, parathyroid hormone-like hormone, interleukin-6, interleukin-11, receptor activator of nuclear factor-κB ligand, nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1, and cathepsin, which are involved in osteoclast function; Myc, HSP90, p-Met, p-Akt, p-STAT3, and cyclin D1, which are transcriptional factors; p-GP, hydroxysteroid (17-beta) dehydrogenase 10, HMGB1, BIM, inorganic phosphate, Bcl-2, PARP, mdm2, p21, Bax, and mitogen-activated protein kinase 1, which are involved in drug sensitivity.

cyclin D1

tumor angiogenesis


Input: To examine the potential functional significance of the P20L-Hsp20 human variant, adult rat cardiomyocytes were infected with Ad. GFP (where Ad is adenovirus and GFP is green fluorescent protein), Ad. WT-Hsp20 (where WT is wild-type), and Ad. P20L-Hsp20 and subjected to simulated ischemia/reperfusion injury.

adenovirus


Input: When gene polymorphisms were compared with lipid abnormalities, the genotypes EcoR1 +/+, Xba1-/-, and Msp1 +/+ were more frequent in patients with elevated apolipoprotein B and very low-density lipoprotein levels.

apolipoprotein B

abnormalities


Input: Immunostaining of primary tumor indicated the rate of Ki-67 positive carcinoma cells was decreased, whereas that of apoptotic cells was significantly increased in sema3C-silenced tumor.

carcinoma


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

inflammation

inflammation


Input: Promoter methylation and down-regulation of DAPK is associated with gastric atrophy.

DAPK

gastric atrophy


Input: HSPB8 is part of the chaperone-assisted selective autophagy (CASA) complex previously only associated with Charcot-Marie-Tooth type 2L (OMIM 60673) and distal hereditary motor neuronopathy type IIa.

CASA

hereditary motor neuronopathy


Input: Overexpression of different PFKFB in pancreatic and gastric cancer cells under hypoxic condition is correlated with enhanced expression of vascular endothelial growth factor (VEGF) and Glut1 mRNA as well as with increased level of HIF-1α protein.

VEGF

hypoxic


Input: Most follicular lymphomas (FLs) are genetically defined by the t (14; 18) (q32; q21) translocation that juxtaposes the BCL2 gene to the immunoglobulin heavy chain (IgH) 3' regulatory regions (IgH-3' RRs).

BCL2 gene

translocation


Input: These results suggest that the Arg (972) IRS-1 variant could contribute to the risk for atherosclerotic cardiovascular diseases associated with type 2 diabetes by producing a cluster of insulin resistance-related metabolic abnormalities.

type 2 diabetes

type 2 diabetes


Input: The cDNA for human Ec-SOD was cloned behind the cytomegalovirus (CMV) promoter and incorporated into a replication-deficient adenovirus (Ad5/CMV/Ec-SOD).

Ec-SOD

adenovirus


Input: We further found that, in addition to supernatant of necrotic tumour cells, foetal calf serum and human serum used in culture media contained FPR agonist activity and increased the motility of FPR-expressing glioblastoma cells.

FPR

necrotic tumour


Input: Two hundred and twenty-three incident papillary thyroid cancer cases and 229 controls recruited from Saudi Arabian population were analyzed for 21 loci in 8 selected DNA repair genes by PCR-restriction fragment length polymorphism including non-homologous end joining pathway genes LIGIV (LIGlV ASP62HIS, PRO231SER, TRP46TER), XRCC4 Splice 33243301G > A and XRCC7 ILE3434THR; homologous recombination pathway genes XRCC3 ARG94HIS and THR241MET, RAD51 UTR 15452658T > C, 15455419A > G, RAD52 2259 and GLN221GLU, conserved DNA damage response gene Tp53 PRO47SER, PRO72ARG, Tp53 UTR 7178189A > C and base excision repair gene XRCC1 ARG194TRP, ARG280HIS, ARG399GLN, ARG559GLN.

papillary thyroid cancer


Input: Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Leber congenital amaurosis

Leber congenital amaurosis


Input: Recent studies have also demonstrated that the translocation of CagA into B lymphocytes inhibits apoptosis through p53 accumulation, BAD phosphorylation, and the up-regulation of Bcl-2 and Bcl-XL expression.

translocation


Input: We examined 144 late-onset multiplex AD families, 436 sporadic AD cases, and 240 controls and found no evidence of linkage or association of LRP1 and AD.

sporadic


Input: These cases reinforce the belief that patients suffering from IRIDA have no specific geographical or ethnic distribution and are sporadic secondary to different mutations of the matriptase-2 gene.

sporadic


Input: However, there have been no studies of common genetic variants in CTSK and their possible association with bone density in the general population.

CTSK

bone density


Input: Although hypoxia has been shown to inhibit mTOR activity, we show here that the hypoxia-induced inhibition of mTOR activity is attenuated in cells lacking TSC2 or PTEN, resulting in a higher translation rate even under hypoxic conditions.

hypoxic


Input: Polymorphisms of ZnT8 (also known as SLC30A8) gene in man are associated with increased risk of type 2 diabetes.

type 2 diabetes

type 2 diabetes


Input: These data indicate that BCL2 or BCL3 are recurrent translocation partners of the IGH locus in cHL; however, most of the translocation partners of IGH translocations in cHL remain to be identified.

translocation


Input: Fifty percent of RER-positive HNPCC tumors had both germline and somatic mutations of hMSH2 or hMLH1 gene, whereas 6% of RER-positive non-HNPCC had somatic mutation.

RER

somatic mutation


Input: We assessed the mutation frequency in nicotinic acetylcholine receptor (nAChR) subunits CHRNA4, CHRNB2, and CHRNA2 in a cohort including autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and sporadic nocturnal frontal lobe epilepsy (NFLE).

sporadic


Input: Stromal cells subjacent to the carcinoma cells express alpha-smooth muscle actin (αSMA) with fewer cells expressing platelet-derived growth factor α compared with normal stromal cells, suggesting that the mutant stromal cells have acquired a more myofibroblastic phenotype, which have been described as cancer-associated fibroblasts and have been shown to induce carcinogenesis in other organ systems.

smooth muscle actin

carcinogenesis


Input: Recently, several mutations in CGL have been described in patients with cystathioninuria, a rare but poorly understood genetic disease.

CGL

cystathioninuria

CGL

cystathioninuria


Input: Comparisons with phenotypic features recently detailed in three kindreds (TOR3, F19, ROM) with codon 717 amyloid precursor protein gene mutations (i. e., APP717 FAD) suggested several distinctions: Prominent progressive aphasia, myoclonus, seizures, and paratonia were all apparently less prevalent in APP717 FAD, with language function predominantly spared over the initial disease course.

ROM

seizures


Input: Here, we study the role of the different members of the NFI family in regulating endogenous and ectopic B-FABP and GFAP gene transcription in human malignant glioma cells.

NFI

malignant glioma


Input: Interestingly, heterozygous members in these pedigrees who carried c. 1114delG mutations in the TYR gene or c. 1426A > G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.

OCA2 gene

pale skin


Input: The goal of this study is to investigate the role of Sirt1 in the activation of MMP-9 in diabetic retinopathy.

diabetic retinopathy

diabetic retinopathy


Input: Impaired VE-cadherin/beta-catenin expression mediates endothelial cell degeneration in dilated cardiomyopathy.

VE-cadherin

dilated cardiomyopathy


Input: Thus, our results suggest that the suppression of myasthenia gravis-associated T cell responses exerted by the dual APL is mediated by the CD4 + CD25 + immunoregulatory T cell function via TGF-beta or cytotoxic T lymphocyte-associated antigen 4, which further stimulate a cascade of events that up-regulates apoptosis.

myasthenia gravis


Input: Neuronal transport defects of the MAP6 KO mouse-a model of schizophrenia-and alleviation by Epothilone D treatment, as observed using MEMRI.

schizophrenia

schizophrenia


Input: We also found that enhanced DBH-AS1 expression inhibited serum starvation-induced apoptosis of HCC cells.

HCC

starvation


Input: In the present study, we conducted a reverse transcription-polymerase chain reaction assay to detect the FUS-CREB3L2 fusion transcripts using formalin-fixed, paraffin-embedded tumor tissue specimens from 16 LGFMSs including 3 cases with giant collagen rosettes.

FUS

giant


Input: These observations challenge the prevailing view that MDR bacteria are less fit than drug-susceptible bacteria and indicate that Acr1 is dispensable for bacterial growth in the human lung.

fit


Input: Both the appearance of cytoplasmic inclusions containing phosphorylated TAR DNA-binding protein (TDP-43) and inefficient RNA editing at the GluR2 Q/R site are molecular abnormalities observed specifically in motor neurons of patients with sporadic amyotrophic lateral sclerosis (ALS).

abnormalities


Input: We show that dopaminergic neurons are specifically sensitive to hyperoxia induced oxidative stress and that mutant forms of alpha-synuclein show an enhanced toxicity under these conditions suggesting synergic interactions.

alpha-synuclein

hyperoxia


Input: The genomic instability of BRCA1-mutated tumors can be effectively targeted with DNA-damaging agents and poly-(ADP-ribose) polymerase 1 (PARP1) inhibitors.

genomic instability


Input: Interestingly, glycogenic acanthosis of the esophagus is highly predictive of CS and the presence of PTEN mutation.

PTEN

acanthosis


Input: WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-& #954; B pathway in cilia.

short-rib polydactyly syndrome type III

short-rib polydactyly syndrome type III


Input: A novel type of pituitary-specific transcription factor, Prophet of Pit-1 (Prop-1) gene (PROP1), expresses in just early embryonic stage in mouse and closely related as a causative gene in combined pituitary hormone deficiency.

pituitary hormone deficiency


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

RalB

melanoma


Input: In univariable analysis, IL-18 levels associated with traditional cardiovascular risk factors and particularly with components of the metabolic syndrome (MS, P < 0. 01 for trend across the number of MS components); IL-18 also associated with coronary artery calcium (CAC) scores measured by electron beam computed tomography and aortic plaque measured by MRI (P < 0. 01 for each).

CAC

plaque


Input: Conversely, TNF-alpha receptor 2 shedding was negatively associated with insulin sensitivity (r =-0. 54, P = 0. 03), whereas shedding of L-selectin showed no significant association.

L-selectin

insulin sensitivity


Input: positive for any of these fusion transcripts (TRMT11-GRIK2, SLC45A2-AMACR, MTOR-TP53BP1, LRRC59-FLJ60017, TMEM135-CCDC67, KDM4-AC011523. 2, MAN2A1-FER, and CCNH-C5orf30) experienced PCa recurrence, metastases, and/or PCa-specific death after radical prostatectomy.

CCNH

metastases


Input: The allelic association test for rs11200638 on the promoter of HTRA1 yielded p-values less than 10 (-10) for geographic atrophy, less than 10 (-16) for neovascularization, and less than 10 (-19) for the pooled phenotypes (with an odds ration [OR] of 3. 973; 95% confidence interval [CI] 2. 928, 5. 390).

neovascularization


Input: Elevated CREB produced increases in intracranial self-stimulation thresholds, a depressive-like sign reflecting anhedonia (decreased sensitivity to reward), whereas disruption of CREB function by expression of a dominant-negative CREB had the opposite effect.

CREB

anhedonia


Input: We document postnatal onset of CA, a retinopathy, basal ganglia degeneration, and short stature as novel features of WDR73-related disease, and define WDR73-related disease as a new entity of infantile neurodegeneration.

retinopathy


Input: To investigate the association of single nucleotide polymorphisms (SNPs) in NOS3 (G894T, T-786C, and a variable number of tandem repetitions VNTR in intron 4), MMP2 (C-1306T), and MMP9 (C-1562T) genes with preeclampsia in patients from Southeastern Brazil.

preeclampsia


Input: The results indicate a statistically significant interaction effect of DRD2-141 and FREQ genotypes on abstinence at the end of the NRT treatment phase; 62% of the smokers with at least one copy of the DRD2-141 Del allele and two copies of the FREQ rs1054879 A allele were abstinent from smoking, compared to 29-38% abstinence rates for other smokers in the trial.

smoking


Input: There is a role for podoplanin in tumorigenesis and malignant progression in ESCC.

podoplanin

tumorigenesis


Input: Defects of DNA mismatch repair (MMR) cause the high level microsatellite instability (MSI-H) phenotype.

MMR

microsatellite instability


Input: Using cell culture experiments, tissue analysis, molecular profiling, and animal studies, we report here that SOX2 promotes cell proliferation and tumorigenesis by facilitating the G (1)/S transition and through its transcription regulation of the CCND1 gene in breast cancer cells.

tumorigenesis


Input: We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease.

marenostrin

FMF

marenostrin

FMF


Input: Angiogenic factors such as VEGFR2 (vascular endothelial cell growth factor receptor 2), Bcl-2 (a prosurvival and proangiogenic signaling molecule), and chemokine (C-X-C motif) ligand 1 (CXCL1) (a proangiogenic chemokine) may have critical roles in enhancing the establishment of apical periodontitis.

apical periodontitis


Input: Vascular permeability factor/vascular endothelial growth factor (VPF/VEGF), the critical molecule in tumor angiogenesis, is regulated by different stimuli, such as hypoxia and oncogenes, and also by growth factors.

VEGF

hypoxia


Input: The epithelial-mesenchymal transition (EMT) induced by chemotherapeutic agents promotes malignant tumor progression; however, the mechanism underlying the drug-induced EMT remains unclear.

EMT

tumor progression


Input: We analyzed the expression of mutant IDH1 and FAS proteins in 10 non-neoplastic and 52 neoplastic lesions.

non-neoplastic


Input: Our data support the notion that among gastrointestinal MALT lymphomas, t (14; 18)-(IgH; Bcl-2) translocation clusters in HCV-positive patients sustaining the role of HCV infection in the lymphoma development.

translocation


Input: RORgamma-expressing Th17 cells induce murine chronic intestinal inflammation via redundant effects of IL-17A and IL-17F.

inflammation


Input: ]), and not kinase dead AKT1 (179M) or AKT3 (177M), was capable of blocking invasion induced by either human epidermal growth factor receptor-2 (HER-2) overexpression or by activation of PI3-K. Taken together, these data indicate that AKT2 mediates PI3-K-dependent effects on adhesion, motility, invasion, and metastasis in vivo.

metastasis


Input: Although the neurotoxins, oxidative/metabolic stress and impaired activity of neurotrophic factors are believed to be underlying reasons for the development of HAD, the genomic basis, which ultimately defines the virus-host interaction and leads to neurologic manifestation of HIV disease is lacking.

HAD

neurologic manifestation


Input: We sought to identify the molecular defect in four unrelated patients who were thought to have PHP-Ia because of PTH and TSH resistance and mild AHO features.

PTH

mild


Input: As a result, five missense mutations in SOD1, namely, p. D101N, p. D101G, p. C111Y, p. N86S and p. V87A, were identified in three unrelated familial probands and three sporadic cases; two mutations in FUS were found in two unrelated familial probands, including an insertion mutation (p. P525_Y526insY) and a missense mutation (p. R521H); no variants of TARDBP were observed in patients.

FUS

sporadic


Input: In the present study we observe neuronal apoptosis in association with learning and memory impairment, as well as regional brain alterations in Bcl-2 expression in rats chronically exposed to Al.

memory impairment

memory impairment


Input: Fluorescence in situ hybridization (FISH) analysis using the LSI EWSR1 break-apart probe and a reverse transcription polymerase chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types and the EWSR1/CREB1 variant was performed.

FISH

clear cell sarcoma


Input: A translocation resulting in a fusion of ETV6 (TEL) gene at 12p13 and CBFA2 (AML1) gene at 21q22 is variably reported in 16-36% of cases of childhood acute lymphoblastic leukemia (ALL).

translocation


Input: Recent studies of murine knockouts of key genes in the microdeleted region, LIM kinase 1 (LIMK1) and cytoplasmatic linker protein 2 (CYLN2), demonstrated significant functional and metabolic abnormalities, but grossly normal structure, in the hippocampal formation (HF).

abnormalities


Input: Putative predictive biomarkers of survival in patients with metastatic pancreatic adenocarcinoma treated with gemcitabine and ganitumab, an IGF1R inhibitor.

metastatic pancreatic adenocarcinoma


Input: mRNA and protein levels of TNFalpha, IL-12 (p35), IL-12 (p40), IL-15, IL-18 and IL-23 (p19) were quantified in biopsies from active CD patients, CD patients on a gluten-free diet (GFD), healthy controls, and patients with non-CD inflammation and mild histological changes in the intestine.

mild


Input: Gene dosage and in situ hybridization analysis indicate that only two copies of the INSR locus are present in 697 cells, one on the translocation chromosome and one on the normal chromosome 19.

INSR

translocation


Input: Screening for microsatellite instability identifies frequent 3'-untranslated region mutation of the RB1-inducible coiled-coil 1 gene in colon tumors.

RB1-inducible coiled-coil 1 gene

microsatellite instability


Input: Familial hyperaldosteronism type II is not glucocorticoid-remediable, and is clinically, biochemically and morphologically indistinguishable from apparently sporadic PAL.

PAL

sporadic


Input: Mouse OPCs with genetic Wnt dysregulation (high tone) express multiple genes in common with colon cancer, including Lef1, Sp5, Ets2, Rnf43 and Dusp4.

colon cancer


Input: CXCR4 and CCR5 genetic polymorphisms in long-term nonprogressive human immunodeficiency virus infection: lack of association with mutations other than CCR5-Delta32.

nonprogressive


Input: Both TGF-β and hypoxia concomitantly induced H19 and miR-675 with the induction of EMT markers.

TGF-β

hypoxia


Input: The study identified and characterized three of these proteins, namely peroxiredoxin-6, & #946;-actin and collagen & #945;-1 (VI) as potentially prospective biomarkers for early detection of lung cancer.

lung cancer

lung cancer


Input: Small molecule 1'-acetoxychavicol acetate suppresses breast tumor metastasis by regulating the SHP-1/STAT3/MMPs signaling pathway.

breast tumor


Input: Reconstitution studies were performed with T cells from mucosa-associated lymphoid tissue lymphoma-translocation gene 1-deficient (Malt1 (-/-)) mice.

translocation


Input: We used the qualitative Hanssen technique in albino rats to seek morphologic demonstration of tubular obstruction in two types of acute renal failure: one induced by folic acid and another by methemoglobin.

methemoglobin

acute renal failure

methemoglobin

acute renal failure


Input: Therefore, both alleles of the FMO3 gene for individual 2 were affected by mutations abolishing the catalytic activity of the enzyme, explaining the severe TMAU condition.

TMAU

TMAU


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

ADC

ADC


Input: Our data indicate that in addition to Foxp3 (+) Treg cells, CD4 (+) T cells acquire HLA-G from decidual DCs and may play an important role in immune tolerance induction in pregnancy, a process which is impaired in pre-eclampsia.

pre-eclampsia


Input: Applying whole-exome sequencing we here identify a missense change (p. V1184A) in NaV1. 9, which leads to cold-aggravated peripheral pain in humans.

NaV1. 9

cold


Input: In humans, loss-of-function mutations in the gene coding for guanylyl cyclase-B (GC-B), the specific receptor for CNP, have been proved to be the cause of acromesomelic dysplasia, type Maroteaux, one form of human skeletal dysplasias.

CNP

acromesomelic dysplasia


Input: These findings demonstrate that the spectrum of LAMB2-associated disorders is broader than previously anticipated and includes congenital nephrotic syndrome without eye anomalies or with minor ocular changes different from those observed in Pierson syndrome.

Pierson syndrome

Pierson syndrome


Input: Thus, imbalance in ADNP/ADNP2 expression in the brain may impact disease progression in schizophrenia.

schizophrenia

schizophrenia


Input: PTEN and p27 expressions decreased in hyperplasia and carcinoma cases with respect to proliferative endometrium.

hyperplasia


Input: Both high fit and low fit discordant response groups showed high reconstitution of naïve CD4 CD45RA T cells (median 388 and 357 cells/microl, respectively).

fit


Input: Our results demonstrate that the N-carbamyl-beta-amino aciduria in these patients is due to a deficiency of beta-ureidopropionase, which is caused by mutations in the UPB1 gene.

deficiency of beta-ureidopropionase

deficiency of beta-ureidopropionase


Input: The activity of TXS was increased in lung cancer.

TXS

lung cancer


Input: The positive results have suggested that DGCR14 is likely to play an important role in the etiology of schizophrenia in the Chinese Han population.

schizophrenia

schizophrenia


Input: The NPL regression and ordered subset analyses suggest that the evidence for linkage significantly increased with early onset of ESRD (2q32. 1 LOD = 3. 89, 13q13. 1 LOD = 3. 90), increased BMI (8p22 LOD = 3. 37, 13q33. 3 LOD = 5. 20, 18p11. 3 LOD = 2. 38), early onset of hypertension (14q21. 1 LOD = 3. 19, 20q13. 2 LOD = 2. 32), and late onset of hypertension (4q13. 1 LOD = 3. 44, 5p15. 33 LOD = 2. 82).

NPL

regression


Input: We have performed AR gene molecular analysis in several members of a large family with KD as well as in 25 sporadic patients suffering from heterogeneous motoneuron disease (MND).

AR gene

sporadic


Input: Inactivating mutations in the TSH receptor can be associated with severe TSH resistance presenting as congenital hypothyroidism with apparent athyreosis.

TSH receptor

TSH resistance

TSH receptor

TSH resistance


Input: Autosomal recessive, partial GINS1 deficiency impairs DNA replication and underlies intra-uterine (and postnatal) growth retardation, chronic neutropenia, and NK cell deficiency.

chronic neutropenia

chronic neutropenia


Input: The risk allele of C3 was observed to carry a significant risk in the simultaneous absence of homozygous CFH and HTRA1 polymorphisms only, in which case it was associated with a near-five-fold relative increase in the odds of dry type AMD (OR = 4. 93, 95% CI: 1. 98-12. 25, p = 0. 0006).

CFH

dry


Input: Pirt (-/-) mice exhibit decreased behavioural responses to cold and cool temperatures, and Pirt increases the sensitivity of TRPM8 to menthol and cool temperature.

cold


Input: The hypoxia-dependent activation of the NF-κB/HIF-1α/VEGF pathway contributes, at least in part, to gastric cancer promotion via enhancement of angiogenesis.

VEGF

hypoxia


Input: The duplicated region on chromosome 16 spans the entire genome-wide association studies risk locus for obesity, and further encompasses RBL2, AKTIP, RPGRIP1L and all but the last exon of the FTO gene.

obesity


Input: FTO, type 2 diabetes, and weight gain throughout adult life: a meta-analysis of 41, 504 subjects from the Scandinavian HUNT, MDC, and MPP studies.

MDC

weight gain


Input: The administration of EIPA, an NHE inhibitor, attenuated validated markers of intestinal contractile dysfunction induced by edema as measured by decreased STAT-3 activation, increased MLC phosphorylation, improved intestinal contractile activity, and enhanced intestinal transit.

MLC

edema


Input: Additionally, the tumor volume and weight in MCF-7/HAP1 + RT group were observably lower than in MCF-7/HAP1 group and MCF-7/Pb + RT group.

weight


Input: The frequency of FUS mutations is approximately 1. 0% in our SOD1-, ANG-, TARDBP-mutation-negative sporadic ALS cohort and similar to that reported in previous studies from Asia in our familial ALS cohort.

FUS

sporadic


Input: Taken together, we suggest that antagonism of the MCHR1 receptor may provide a novel approach for the treatment of affective disorders, including depression, with a potentially increased efficacy in women.

affective disorders

affective disorders


Input: We demonstrate that WAT NNMT expression is regulated in human insulin resistance and type 2 diabetes and that plasma MNA correlates with increased tissue NNMT expression and the degree of insulin resistance, making it a potential biomarker for loss of insulin sensitivity.

NNMT

insulin sensitivity


Input: Our results suggest the alteration of HDAC5 and CREB gene expression in the systemic pathophysiology of major depression.

major depression

major depression


Input: We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein.


Input: These results provide the first evidence that the anti-oral cancer effects of MAA may involve a mechanism through the mitochondrial dependent pathway.

MAA

oral cancer


Input: Thus in rheumatoid arthritis, the capacity of synovial fibroblasts in the hypoxic environment to secrete large amounts of VEGF in response to cytokines such as TGF-beta probably contributes significantly to angiogenesis in the synovium.

TGF-beta

hypoxic


Input: These results suggest that the administration of SN28 together with the suppression of YAP using statins is a promising strategy for enhancing the treatment response in HCC patients, particularly in advanced stage HCC cases presenting hypoxic resistance.

YAP

hypoxic


Input: Angiotensin II (490 ng & #183; kg & lt; sup & gt;-1 & lt;/sup & gt; & #183; min & lt; sup & gt;-1 & lt;/sup & gt;) or deoxycorticosterone acetate (DOCA) salt-induced mouse hypertensive models in genetic ablation, pharmacologic inhibition of CXCR2, and adoptive bone marrow transfer mice were used to determine the role of CXCR2 in hypertension (measured by radiotelemetry and tail-cuff system), inflammation (verified by flow cytometry and quantitative real-time polymerase chain reaction [PCR] analysis), vascular remodeling (studied by haematoxylin and eosin and Masson' s trichrome staining), vascular dysfunction (assessed by aortic ring), and oxidative stress (indicated by nicotinamide adenine dinucleotide phosphate [NADPH] oxidase activity, dihydroethidium staining, and quantitative real-time PCR analysis).

Angiotensin II

vascular remodeling

Angiotensin II

vascular remodeling


Input: Additionally, we demonstrate for the first time a critical contribution of miR-22 and miR-29b microRNAs in the inhibition of Mat1a and Mthfr gene expression during 2-AAF-induced rat hepatocarcinogenesis.

Mthfr gene

hepatocarcinogenesis


Input: Molecular subtyping of DR4 + and DR14 + subjects showed a highly significant association between the DRB1 * 1401 and both pemphigus vulgaris (p < 0. 0001) and pemphigus foliaceus patients (p < 0. 0001) together with a significant increase of the linked DQB1 * 0503 (pemphigus vulgaris p < 0. 0001; pemphigus foliaceus p < 0. 0001).

pemphigus vulgaris