Input: Taken together, these results show that secretion of CXCL5 by WAT resident macrophages represents a link between obesity, inflammation, and insulin resistance.

inflammation


Input: Restoration of tissue factor pathway inhibitor-2 in a human glioblastoma cell line triggers caspase-mediated pathway and apoptosis.

tissue factor pathway inhibitor

glioblastoma


Input: This is the first PGD for primary torsion dystonia, providing an alternative for those at-risk couples who cannot accept prenatal diagnosis and termination of pregnancy as an option for avoiding early onset torsion dystonia.

PGD

primary torsion dystonia


Input: The BTBD9 gene may be associated with antipsychotic-induced restless legs syndrome in schizophrenia.

schizophrenia

schizophrenia


Input: LTBP4 exerts its effect in muscle disease by acting on plasma membrane stability and fibrosis, thereby linking instability of the sarcolemma directly to fibrosis.

fibrosis


Input: To study the association of proliferating cell nuclear antigen (PCNA) with the biological characteristics and clinical behavior of hypopharyngeal carcinoma and with the prognosis of the malignancy.

PCNA

hypopharyngeal carcinoma


Input: This group of genes could segregate sporadic tumors into two subgroups, " BRCA1-like " and " BRCA2-like, " suggesting that BRCA1-related and BRCA2-related pathways are also involved in sporadic ovarian cancers.

sporadic


Input: A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

MATP

oculocutaneous albinism type IV

MATP

oculocutaneous albinism type IV


Input: In osteochondroma of the jaws, CDK4 and E2F-1 showed an equal positivity of 12. 5% (1 of 8), whereas p27 was positive in 87. 5% (7 of 8).

osteochondroma


Input: Antisense treatment significantly reduced (by approximately 50%) the volume of water drunk in response to i. c. v. injection of renin or subcutaneous isoproterenol, but did not reduce water intake elicited by the other dipsogenic stimuli. The i. c. v. administration of mismatch, scrambled or sense oligonucleotides did not inhibit water intake.

renin

drunk

renin

drunk


Input: Effects of histamine H3 receptor agonists and antagonists on cognitive performance and scopolamine-induced amnesia.

histamine H3 receptor

amnesia

histamine H3 receptor

amnesia


Input: This work aimed to investigate the occurrence of Asn and Ser FSHR gene variants and its relationship with seminal anti-Müllerian hormone (AMH) among normozoospermic and infertile oligoasthenozoospermic (OAT) males.

FSHR gene

infertile


Input: Small-interfering (si) RNA directed against MUC5AC were used to assess the effects of MUC5AC on invasion and adhesion of pancreas cancer cells in vitro and in vivo.

adhesion


Input: A number of rare mutations linked to familial AD (FAD) on the Aβ precursor protein (APP), Presenilin-1 (PS1), Presenilin-2 (PS2), Adamalysin10, and other genetic risk factors for sporadic AD such as the ε4 allele of Apolipoprotein E (ApoE-ε4) foster the accumulation of Aβ and also induce the entire spectrum of pathology associated with the disease.

FAD

sporadic


Input: Since dysregulation of this pathway results in high, constitutive NFκB activation in various cancers and immune disorders, the development of specific drugs to target this pathway has become a focus for treating these diseases.

NFκB

immune disorders


Input: Despite extensive research on antithrombotic effect of statins, little is known about their effects on TF and PAI-1 expression in peripheral blood mononuclear cells in patients with primary nephrotic syndrome (PNS).

TF

nephrotic syndrome

TF

nephrotic syndrome


Input: Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

acid sphingomyelinase

type B Niemann-Pick disease

acid sphingomyelinase

type B Niemann-Pick disease


Input: These results provide a complete description of changes in mRNA levels of neurotrophins and their receptors in the forebrain after SE and supply additional data supporting the view that neurotrophin gene expression is related to abnormal neuronal activity.

neurotrophin

SE

neurotrophin

SE


Input: The IGF-I 192-base pair allele was less frequent in children with accelerated weight gain and was shown to reduce the risk for accelerated weight gain in a logistic regression model.

IGF-I

weight gain


Input: Guamanian amyotrophic lateral sclerosis (ALS-G) and parkinsonism dementia (PD-G) have been epidemiologically linked to an environment severely deficient in calcium (Ca2 +) and magnesium (Mg2 +).

parkinsonism


Input: Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43.

ALS

ALS


Input: TGF-beta induction of VEGF secretion by RPE and choroid cells may play a significant role in choroidal neovascularization (CNV) in AMD.

RPE

choroidal neovascularization


Input: A study has shown that MYD88 (L265P) is a recurring somatic mutation in Waldenström' s macroglobulinemia (WM).

somatic mutation


Input: In TRX-1-TG mice, pancreatic atrophy was ameliorated, and histologically detectable inflammatory cell infiltration, glandular atrophy, and pseudotubular complex formation were suppressed.

TRX

atrophy


Input: Furthermore, the PC cell lines 22Rv1 and VCaP, which express low levels of miR-193b and high levels of CCND1, showed significant growth retardation when treated with a CDK4/6 inhibitor.

growth retardation


Input: Acute knockdown of MOR-1 gene expression by administration of antisense oligodeoxynucleotides to hippocampal slices in vitro or injection of the MOR antagonist naloxone to rats in vivo affords protection against ischemia-induced death of CA1 pyramidal neurons.

ischemia


Input: Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD).

transmembrane protein 2

convulsions


Input: Accordingly, hypoxia-induced down-regulation of miR-21 and up-regulation of FasL and PTEN were reversed by activated AKT and reproduced by a dominant negative mutant, wortmannin, or PTEN.

hypoxia


Input: Overall, LPL is a fascinating enzyme that contributes in a pronounced way to normal lipoprotein metabolism, tissue-specific substrate delivery and utilization, and the many aspects of obesity and other metabolic disorders that relate to energy balance, insulin action, and body weight regulation.

LPL

body weight


Input: In summary, GH plus IGF-I infusions decrease the relative weight of inguinal fat in Zucker rats as in obese GH-deficient dwarf rats; however, this effect is of more modest magnitude despite the use of a 2-to 3-fold higher dose and is limited to the inguinal site.

IGF-I

weight


Input: Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES.

BPES

BPES


Input: The glutamic acid derivative thalidomide is a transcriptional inhibitor of TNF-alpha but is also known to affect human blood vessels, which may underlie its teratogenicity.

TNF-alpha

teratogenicity


Input: Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion.

translocation


Input: It showed significant suppressive effect on ROS generation in response to TNF-alpha stimulation and it blocked nuclear factor-kappa B (NF-kappaB) p65 translocation into the nucleus and phosphorylation of inhibitory factor kappaBalpha (IkappaBalpha).

TNF-alpha

translocation


Input: Moreover, we investigated whether membrane staining for TRAIL-receptors as well as the presence of KRAS mutations or of microsatellite instability (MSI) had an effect on survival and thus a prognostic effect.

TRAIL

microsatellite instability


Input: MiR-30a-5p is induced by Wnt/β-catenin pathway and promotes glioma cell invasion by repressing NCAM.

NCAM

glioma


Input: Serum MIF levels were low in patients with a normal mucosa (576 (82) pg/ml) but higher in patients with gastritis (2100 (349) pg/ml), intestinal metaplasia (4498 (253) pg/ml), and gastric cancer (9737 (1249) pg/ml) (p < 0. 001, ANOVA).

MIF

gastric cancer


Input: These observations indicate that hippocampal pathology in the FAD cases is qualitatively as well as quantitatively different from that in sporadic cases.

FAD

sporadic


Input: Saline and HNE were applied via the trachea using a microsprayer.

HNE

trachea


Input: Some of the molecular mechanisms of HGPS might be relevant to the process of normal aging, since progerin is detected in cells from normal elderly humans.

progerin

aging


Input: Studies of smoking and risk of non-Hodgkin lymphoma (NHL) have yielded inconsistent results, possibly due to subtype heterogeneity and/or genetic variation impacting the metabolism of tobacco-derived carcinogens, including substrates of the N-acetyltransferase enzymes NAT1 and NAT2.

smoking


Input: Serum sTNFR1 and sTNFR2 levels were significantly higher in women with endometriosis than in those without endometriosis, whereas no difference in serum TNT-alpha level was noted.

TNT

endometriosis


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

ARTN

major depression

ARTN

major depression


Input: Phospholipase D1 has a pivotal role in interleukin-1β-driven chronic autoimmune arthritis through regulation of NF-κB, hypoxia-inducible factor 1α, and FoxO3a.

autoimmune arthritis


Input: These results suggest that loss of tolerance against Dsg3 in both B and T cells is important for the development of autoimmune state of PV.

autoimmune state


Input: DNA methylation changes at a number of these genes have been linked to various forms of human disease, including cancers, such as asthma and acute myeloid leukemia (ALOX12), gastric cancer (EBF3), breast cancer (NAV1), colon cancer and acute lymphoid leukemia (KCNK15), Wilms tumor (protocadherin gene cluster; PCDHAs) and colorectal cancer (TCERG1L), suggesting a potential etiologic role for MEs in tumorigenesis and underscoring the possible developmental origins of these malignancies.

tumorigenesis


Input: Here, we used MCT4 immuno-staining of human breast cancer tissue microarrays (TMAs; & gt; 180 triple-negative patients) to directly assess the prognostic value of the " Reverse Warburg Effect. "

breast cancer

breast cancer


Input: The copy number intensities examined using both microarrays and quantitative real-time polymerase chain reaction for the GAD67 gene were significantly decreased in sector CA3/2 of patients with schizophrenia and patients with bipolar disorder.

schizophrenia


Input: This unexpected result suggests a model that could explain the dual action of VPA in stabilizing mood: we propose that euthymic mood is dependent on stable PIns signaling and that VPA may limit mood swings to mania by decreasing PIns signaling, and that it may limit mood swings to depression by inhibiting PO and thus increasing PIns signaling.

PO

mania

PO

mania


Input: Finally, we show that depletion of SGEF significantly inhibits epidermal growth factor-induced EGFR signaling cascade and cell migration in the prostate cancer cells.

SGEF

prostate cancer


Input: Myeloid differentiation factor 88 (MYD88) L265P somatic mutation is highly prevalent in Waldenström macroglobulinemia (WM) and supports malignant growth through nuclear factor κB (NF-κB).

NF-κB

macroglobulinemia


Input: Gene expression of IGF1, IGF1R, and IGFBP3 in epiretinal membranes of patients with proliferative diabetic retinopathy: preliminary study.

proliferative diabetic retinopathy


Input: This study investigated the role of BNIP3 in prostate cancer.

prostate cancer

prostate cancer


Input: High miR-21 expression was associated with features of aggressive disease, including high tumor grade, negative hormone receptor status, and ductal carcinoma.

hormone receptor

ductal carcinoma


Input: Bcl-xL is required for the development of functional regulatory CD4 cells in lupus-afflicted mice following treatment with a tolerogenic peptide.

Bcl-xL

lupus


Input: Klkb1 (-/-) mice have delayed carotid artery occlusion times on the rose bengal and ferric chloride thrombosis models.

thrombosis

thrombosis


Input: Acid-ethanol extraction allowed dissociation of the high molecular weight complex; whereupon, fully immunoreactive IGF-I comigrated on acid gel exclusion chromatography with authentic human serum-derived IGF-I.

IGF-I

dissociation


Input: provides new insight into the role of IL-11 and its glycoprotein 130 (gp130) receptor in inflammation-associated gastric epithelial cell oncogenic transformation, which they show is mediated by and dependent on increased activation of Stat3 and, to a lesser extent, Stat1 (see the related article beginning on page 1727).

inflammation


Input: These results demonstrate that mutations in FA2H are associated with SPG35, and that abnormal hydroxylation of myelin galactocerebroside lipid components can lead to a severe progressive phenotype, with a clinical presentation of complicated HSP and radiological features of leukodystrophy. (c) 2010 Wiley-Liss, Inc.


Input: Finally, intraventricular administration of the caspase-2-like inhibitor (VDVAD-FMK) 30 min before induction of ischemia decreased the number of CA1 neurons staining positively for DNA damage (Klenow-labeling assay) and increased the number of healthy-appearing CA1 neurons (cresyl violet) compared with vehicle-treated controls.

ischemia


Input: We assessed expression of the Th1-like cytokine, interferon-gamma, and the Th2-like cytokine, interleukin-4, in lesional atopic skin.

atopic


Input: However, it appears that inactivation of several independent functions of BRCA2 including regulation of gene transcription, chromatin remodeling, cell growth, DNA damage repair, and chromosomal instability may provide a pathophysiological basis for the association of BRCA2 mutations and pancreatic cancer.

chromosomal instability


Input: We investigated a series of 21 sporadic paraffin-embedded hepatoblastoma cases for mutations in the p53 (exons 5-8) and beta-catenin (exon 3) genes, loss of heterozygosity at APC, microsatellite instability and immunohistochemical expression of beta-catenin and of the two main mismatch repair proteins, MLH1 and MSH2.

sporadic


Input: Furthermore we studied effects of histamine H1 and H2 receptor antagonists on orexin A-produced antinociception in C57BL/6 mice. The antinociceptive effects of i. c. v. orexin A were greater in histamine H1 receptor or H2 receptor knockout mice than in the wild-type mice in all four assays of pain.

orexin

pain

orexin

pain


Input: The GSTT1-null polymorphism was found to be a protective factor for UADT cancer [(odds ratio (OR) = 0. 5, 95% confidence interval (CI) = 0. 27-0. 93)], although this association was not confirmed when adjusted for gender, age, smoking, alcoholism, and self-reported skin color in the multivariate logistic regression model (OR = 0. 61, 95% CI = 0. 29-1. 28).

skin color


Input: The inhibition of poly (ADP-ribose) polymerase-1 (Parp-1), the major protein responsible for poly (ADP-ribosy) lation in response to DNA damage, has emerged as a promising treatment for several tumour types.

ADP

tumour


Input: Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

Crouzon syndrome

Crouzon syndrome


Input: These data suggest that adenovirus-mediated inhibition of HIF-1α inhibits the invasion, tube formation, and cell growth in HUVECs and HCC cells.

HCC

adenovirus


Input: Altogether, we here show that de novo protein-truncating KIDINS220 variants cause a new syndrome, SINO.

SINO

SINO


Input: Unexpectedly, the lipogenic enzyme fatty acid synthase (FAS) was increased in the skeletal muscle of mice with diet-induced obesity and insulin resistance.

fatty acid synthase

insulin resistance


Input: Evidence shows that painful HIV sensory neuropathy is influenced by neuroinflammatory events that include the proinflammatory molecules, MAP Kinase, tumor necrosis factor-α (TNFα), stromal cell-derived factor 1-α (SDF1α), and C-X-C chemokine receptor type 4 (CXCR4).

stromal cell-derived factor 1

sensory neuropathy


Input: This case represents a further example of confined placental mosaicism (CPM) for trisomy 2 associated with oligohydramnios, IUGR and poor pregnancy outcome.

CPM

oligohydramnios


Input: An EWS exon 8 sense primer and an antisense ATF1 primer were employed for detection of the CCS-ST tumor-defining EWS-ATF1 translocation, using reverse transcriptase-polymerase chain reaction techniques (RT-PCR), and the fusion gene breakpoint underwent DNA sequencing.

EWS

translocation


Input: By immunohistochemistry, we detected that 34% of MC in human nasal polyps expressed DP2.

nasal polyps


Input: The aim of the study is to define if an altered expression of HDAC9, TWIST1 and FERD3L genes could be involved in plaque vulnerability.

plaque


Input: A somatic mutation in GNAQ (c. 548G > A; p. R183Q), encoding Gαq, has been found in syndromic and sporadic capillary malformation tissue.

GNAQ

somatic mutation


Input: This study was designed to verify whether the glutathione S-transferase (GST) genotypes affect mild hepatotoxicity in valproic acid (VPA)-treated patients.

GST

mild


Input: These data and the well-documented role of mast cells in tumorigenesis suggest that mast cells may be involved in the pathophysiology of APA.

APA

tumorigenesis


Input: Apc (min/+) mice with heterozygous knockout of the gene for reduced folate carrier 1 (Rfc1 (+/-)) developed significantly fewer adenomas compared to Rfc1 (+/+) Apc (min/+) mice [30. 3 +/-4. 6 vs. 60. 4 +/-9. 4 on a control diet (CD) and 42. 6 +/-4. 4 vs. 55. 8 +/-7. 6 on a folate-deficient diet, respectively].

reduced folate carrier 1

adenomas

reduced folate carrier 1

adenomas


Input: This study provided direct in vivo evidence that GALC transduction could prevent or correct aberrant morphology of oligodendrocytes in GLD which may be closely related to the dysfunction and/or degeneration of oligodendrocytes and the demyelination in this disease.

GALC

demyelination


Input: Reductions in RASAL1 expression were detected more frequently in advanced lesions than in small adenomas, suggesting that RASAL1 functions in the progression of benign colonic neoplasms.

colonic neoplasms


Input: Both miR-219 and Dazap1 are putative markers of schizophrenia and bipolar affective disorder in humans.

bipolar affective disorder

bipolar affective disorder


Input: Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion.

adenocarcinomas

adenocarcinomas


Input: To identify the role of apoptosis in brain tumor cell death, we investigated macromolecular (RNA and protein) synthesis and activity in the central to peripheral region of benign [desmoplastic infantile ganglioglioma (DIG) and transitional meningioma (TMG)] and malignant [ependymoma (END), anaplastic astrocytoma (APA), and glioblastoma multiforme (GBM)] brain tumors derived from five patients who had not received previously radiotherapy or chemotherapy.

APA

ependymoma


Input: No significant correlation was observed between the two current prognostic markers, CD4 + and plasma viremia, while a moderate or high inverse correlation was found between CD4 + and total HIV DNA, with strong values for unintegrated HIV DNA.

viremia


Input: There was a & gt; or = 50% decrease in beta-catenin (P = 0. 001) and diminishing Bcl-2 (P = 0. 019) in small intestinal tumors harvested between 2 and 4 days of treatment when compared with untreated controls.

intestinal tumors

intestinal tumors


Input: Detailed analysis of the RET and L1CAM genes, and molecular characterization of MYO18A and TIAF1, the genes involved in the balanced translocation, allowed us to identify, besides the L1 mutation c. 2265delC, different additional factors related to RET-dependent and-independent pathways which may have contributed to the genesis of enteric phenotype in the present patient.

translocation


Input: Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant progressive neurodegenerative disorder with intellectual deterioration and various motor deficits including ataxia, choreoathetosis, and myoclonus, caused by an abnormal expansion of CAG repeats in the DRPLA gene.

DRPLA gene

progressive neurodegenerative disorder


Input: The uncontrolled generation of IFN-gamma-producing CD4 (+) T cells (Th1 type) has been shown to play a causal role in the development of enterocolitis affecting these mutants.

IFN

enterocolitis


Input: The CYP2C9 genotype was not a significant or clinically relevant risk factor in the development of serious NSAID-related ulcers in this group of subjects.

ulcers


Input: By using a rat model of bone cancer pain based on intratibial injection of MRMT-1 tumour cells, we documented a prominent decrease in expression of KCNQ2 and KCNQ3 proteins and a reduction of M-current density in small-sized dorsal root ganglia (DRG) neurons, which were associated with enhanced excitability of these DRG neurons and the hyperalgesic behaviours in bone cancer rats.

DRG

bone cancer


Input: Based on the tumour samples, expression of PIK3C2B was associated with tumour metastasis and in vitro assay suggested that it mediated cell migration.

tumour metastasis

tumour metastasis


Input: While inheritance of mutated alleles of highly penetrant tumor suppressor genes such as retinoblastoma or p53 predisposes individuals to a greatly increased risk of developing cancer, epidemiological data indicate that the majority of sporadic tumors in humans result from interactions of environmental and host genetic factors.

sporadic


Input: These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified.

UROD

PCT

UROD

PCT


Input: A further study revealed hypoxic trophoblast HMGB1-induced cytotoxicity and leukostasis of HUVEC as well as higher expression of cell adhesion molecules (VCAM-1 and ICAM-1) could be reversed by pretreatment with STS.

leukostasis

leukostasis


Input: We compare findings in earlier reported individuals with variants in ITGB4 and PLEC1, and provide a short summary of other entities going along with ACC.

ACC

ACC


Input: In subjects with a positive family history of hypertension, hyperinsulinaemia did not influence renal plasma flow (RPF) or glomerular filtration rate (GFR) but urinary sodium excretion decreased by 50%.

GFR

hyperinsulinaemia


Input: Mutation analyses of SLC7A9 and SLC3A1 genes were performed on 41 cystinuria patients.

cystinuria

cystinuria


Input: In the present study, we investigated the therapeutic effects of uPA gene-modified BDLSC transplantation on carbon tetrachloride (CCl4)-induced liver fibrosis in rats.

uPA

liver fibrosis

uPA

liver fibrosis


Input: In order to ascertain autocrine growth factors in esophageal carcinomas, we analysed expression of mRNAs and proteins for epidermal growth factor (EGF), transforming growth factor-alpha (TGF-alpha) and epidermal growth factor receptor (EGFR) in 6 esophageal carcinoma cell lines.

EGF

esophageal


Input: However, hyperlipidaemia can also cause increased SLC activity in some individuals and it is difficult to distinguish this effect from the effect of hypertension.

SLC

hyperlipidaemia


Input: Therefore, blood leukocytes may harbour the GNAQ mutation, depending on the time when the somatic mutation is acquired.

GNAQ

somatic mutation


Input: The survival data and body weight of all mice were recorded, and expression levels of PTEN, PI3K and FAK in normal tissue and cancer tissue of the livers were evaluated with immunohistochemical method.

body weight


Input: Most COL2A1 mutations occur in the triple helical region of alpha 1 (II) chains: the SED spectrum is mostly attributed to missense mutations that substitute bulky amino acids for glycine residues, STD-I to haploinsufficiency of truncation mutations, and KND to exon skipping due to splice-site mutations.

KND

KND


Input: To test whether the triterpenoid 2-cyano-3, 12-dioxooleana-1, 9 (11)-dien-28-oic acid methyl ester (CDDO-Me) and the rexinoid LG100268 (268) prevent the formation of estrogen receptor (ER)-negative mammary tumors or either arrest the growth or cause regression of established tumors in MMTV-neu mice.

estrogen receptor

regression


Input: Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human disease (ie, the Griscelli syndrome type 2).

Griscelli syndrome type 2

Griscelli syndrome type 2


Input: Since cleft lip/palate is also associated with both tooth agenesis and the gene TGFA, we included TGFA in the analysis as well.

TGFA

tooth agenesis


Input: Process validation and clinical evaluation of a protocol to generate gene-modified T lymphocytes for imunogene therapy for metastatic renal cell carcinoma: GMP-controlled transduction and expansion of patient' s T lymphocytes using a carboxy anhydrase IX-specific scFv transgene.

GMP

metastatic renal cell carcinoma


Input: Certain hub genes were identified in the constructed differential co‑expression network, including matrix metalloproteinase 1 (MMP1), smoothened (SMO), ewing sarcoma breakpoint region 1 (EWSR1) and fasciculation and elongation protein ζ‑1 (FEZ1).

fasciculation


Input: We conclude that PDE11A has a role in the pathophysiology of MDD.

MDD

MDD


Input: Novel oncogenes identified within the 11q13 amplicon including FGF19 and SHANK2 may play important roles in ESCC tumorigenesis.

tumorigenesis


Input: To some extent (the true magnitude of which is at present unknown) partial ACT deficiency is caused by a rare trait, heterozygous ACT deficiency, which in parallel with heterozygous alpha 1-antitrypsin deficiency (PiMZ) also seems to be associated with chronic cryptogenic liver disease.

ACT

alpha 1-antitrypsin deficiency


Input: The study shows that d-myo-inositol 1, 4, 5-tris-phosphate-induced cardiac hypertrophy is mediated by GATA4 but independent from the calcineurin pathway.

cardiac hypertrophy

cardiac hypertrophy


Input: Here, we describe the FISH technique for detection of PAX8-PPARγ translocation in follicular thyroid neoplasms, and the optimal protocol for the detection of this fusion gene using in archival formalin-fixed paraffin-embedded (FFPE) thyroid tissue sections.

PPARγ

translocation


Input: Dependent on the MFM causing mutation, different sets of proteins were revealed as genuine (accumulated) plaque components in independent technical replicates: (i) αB-crystallin, desmin, filamin A/C, myotilin, PRAF3, RTN2, SQSTM, XIRP1, and XIRP2 (patient with defined MFM mutation distinct from FHL1) or (ii) desmin, FHL1, filamin A/C, KBTBD10, NRAP, SQSTM, RL40, XIRP1, and XIRP2 (patient with FHL1 mutation).

plaque


Input: The hormone receptor GUCY2C suppresses intestinal tumor formation by inhibiting AKT signaling.

hormone receptor

intestinal tumor


Input: Whereas higher levels of AHSG blunted TGF-β influenced SMAD and ERK signaling, it did not clearly affect proliferation, suggesting that AHSG influences on adhesion, proliferation, invasion and migration are primarily due to its role in adhesion and cell spreading.

AHSG

adhesion


Input: Mendelian randomization analyses indicate causal roles in PCOS aetiology for higher BMI (P = 2. 5 × 10 (-9)), higher insulin resistance (P = 6 × 10 (-4)) and lower serum sex hormone binding globulin concentrations (P = 5 × 10 (-4)).

sex hormone binding globulin

insulin resistance


Input: Here we report that gastrin, a major gastrointestinal hormone, upregulates the expression of AE2 mRNA and protein in a cholecystokinin B receptor dependent manner in gastric cancer cells.

gastric cancer


Input: Genome-wide scans for diabetic nephropathy and albuminuria in multiethnic populations: the family investigation of nephropathy and diabetes (FIND).

FIND

albuminuria


Input: The gene for Nijmegen chromosomal breakage syndrome (NBS1) plays a role in a variety of processes protecting chromosomal stability.

chromosomal breakage


Input: Deletion of oncogenic K-Ras failed to reduce the activation state of B-Raf or ERK1/2, despite the requirement of oncogenic K-Ras for tumorigenesis.

tumorigenesis


Input: In addition, 11 ERM samples from PDR patients aged 47 +/-18 years with 13 +/-4 years of diabetes were processed for immunohistochemical analysis.

ERM

diabetes


Input: The laboratory data evaluated included thrombogenic factors (fibrinogen, protein C, protein S, and antithrombin III), atherogenic factors (glucose and lipid profiles, lipoprotein (a), and apolipoproteins AI and B), and lymphotoxin-alfa mutations.

antithrombin III

fibrinogen


Input: When some gamma-endorphin derivatives (DT gamma E, DE gamma E) were injected intravenously (i. v.) for 4 days (or hydrocortisone once), they prevented the EEG ictal seizures induced in the hippocampus of rabbits by CRF injected i. c. v.

CRF

seizures

CRF

seizures


Input: A full-colour painting protocol of all human chromosomes by FISH was combined with a telomeric and centromeric labelling using PNA probes to characterize the rejoining pattern and telomere status of radiation-induced chromosome breaks in ataxia-telangiectasia (A-T) and normal lymphoblastoid cell lines.

FISH

chromosome breaks


Input: Our results imply that GRK6 may not play a role in the pathophysiology of schizophrenia among Han Chinese.

schizophrenia

schizophrenia


Input: In this review, we re-examine a dangerous liaison between several viral and bacterial infections and the most significant genetic factor for AD, APOE epsilon4, and the possible impact of this alliance on AD development.

APOE

bacterial infections


Input: In conclusion, PKM2 (+) and TRIM35 (-) contribute to the aggressiveness and poor prognosis of HCC.

HCC

aggressiveness


Input: Using tissue microarrays we examined both nuclear and cytoplasmic levels of MMR proteins MSH2, MSH6, MSH3, MLH1 and PMS2 in more than 200 cases of cutaneous SCC and basal cell carcinoma (BCC).

basal cell carcinoma


Input: Taken together, our results suggest that TIP30 is a key regulator for maintaining ER (+) and ER (-) luminal pools in the mammary luminal lineage, and loss of it promotes expansion of ER (+) luminal progenitors and mature cells and ER (+) mammary tumorigenesis.

mammary tumorigenesis


Input: Several candidate TSGs, among which methyl-CpG-binding domain protein 1 (MBD1), CpG-binding protein CXXC1, Sma-and Mad-related protein 4 (SMAD4), deleted in colon cancer (DCC) and methyl-CpG-binding domain protein 2 (MBD2) are closely linked on a 4-Mb DNA region on chromosome18q21.

colon cancer


Input: The TSN of 1 cell line and 2 primary uveal melanoma cultures inhibited the dendritic cell maturation and did not induce M2 macrophage polarization in vitro.

TSN

uveal melanoma


Input: IGF treatment under hypoxic conditions suppressed increased radiation sensitivity in these cell lines by pharmacologically inhibiting the phosphoinositide 3-kinase-mammalian target of rapamycin pathway, a major IGF signal-transduction pathway.

mammalian target of rapamycin

hypoxic


Input: In addition to literature data on KYN/TRY ratio (IDO activity index), we observe neopterin levels (index of activity of rate-limiting enzyme of guanine-BH4 pathway) to be higher in carriers of high (T) than of low (A) producers alleles; and to correlate with AAMPD markers (e. g., insulin resistance, body mass index, mortality risk), and with IFN-alpha-induced depression in hepatitis C patients.

IDO

insulin resistance


Input: Using a NOD/SCID mouse subcutaneous BJAB lymphoma xenograft model, the tropism of the firefly luciferase (fLuc) labeled MSC was monitored by bioluminescent imaging (BLI) for fLuc activity.

MSC

lymphoma


Input: These data demonstrate that Ets-1 activity contributes to baseline expression of the BMP4 gene and is the predominant mediator of the HIF-dependent BMP4 induction under hypoxic conditions.

hypoxic


Input: We describe a 54-year-old man with CD2, CD7, and CD56-positive but CD3, CD4, and CD8-negative aggressive NK cell lymphoma/leukemia.

leukemia


Input: However, the function of HOXB13 in normal cell growth and tumorigenesis is not yet known.

tumorigenesis


Input: The aim of this study was to evaluate activity and gene expression of AT LPL and HSL at fasting and 6 h after meal in two insulin-resistant groups-obese with Type 2 diabetes and obese without diabetes-and in non-diabetic normal-weight controls.

LPL

weight


Input: In the Alzheimer' s disease brain, the lysosomal enzyme asparaginyl endopeptidase is activated and translocated from the neuronal lysosomes to the cytoplasm, probably due to brain acidosis caused by ischemic changes associated with age-associated microinfarcts.

asparaginyl endopeptidase

acidosis


Input: However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated.

sex reversal


Input: In a double-blind randomized study, 42 healthy subjects took 4 g daily of purified omega-3 PUFA, eicosapentaenoic acid (EPA), or monounsaturated, oleic acid (OA), for 3 months.

EPA

blind


Input: Heavier weight was associated with both the prevalence of secondary hyperparathyroidism and the serum concentration of PTH.

PTH

weight


Input: Given the high expression levels of KISS1 and KISS1R in the hypothalamus and the pituitary respectively, we hypothesized that this system could possibly affect tumor invasiveness and clinical behavior of pituitary tumors.

pituitary tumors


Input: We show that common heterochromatin antigenic protein markers [HP1alpha,-beta,-gamma and mono-, di-, and trimethylated histone H3 lysine 9 (H3K9)], although present in human blood progenitor CD34 + cells, differentiated lymphocytes, and monocytes, are absent in neutrophil granulocytes and to large extent, in eosinophils.

mono


Input: Association of polymorphism in the transcription factor LBP-1c/CP2/LSF gene with Alzheimer' s disease and major depression.

LSF

major depression

LSF

major depression


Input: Results of inhibition assays suggested that enhanced expression of adhesion molecules was dependent on the activation of nuclear factor kappaB (NF-kappaB) and extracellular signal-regulated kinase and that p38 mitogen-activated protein kinase pathways also contributed to the release of IL-6.

NF-kappaB

adhesion


Input: We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation.

X-linked adrenal hypoplasia congenita

X-linked adrenal hypoplasia congenita


Input: In addition, ENG hypermethylation occurs in a subset of human EAC, and early during BE-associated esophageal neoplastic progression.

ENG

esophageal


Input: We measured 381 genomewide markers and performed genetic linkage analyses in search of loci influencing coronary artery calcification (CAC), a measure of atherosclerosis determined by electron beam computed tomography, in 948 non-Hispanic white siblings (mean age [+/-standard deviation] = 59. 6 +/-9. 9 years; 73. 7% hypertensive).

CAC

coronary artery calcification


Input: These data provide new insights into the action of lipocalin 2 and raise the possibility that the administration of lipocalin 2 may be useful for inhibiting tumor angiogenesis, in addition to suppressing tumor metastasis, in cancers which show ras activation.

lipocalin 2

tumor

lipocalin 2

tumor


Input: To study the effects of biological clock protein on circadian disorders in hypoxic-ischemic brain damage (HIBD) by examining levels of CLOCK and BMAL1 proteins in the pineal gland of neonatal rats.

CLOCK

hypoxic


Input: Adenosine deaminase completely abolished reactive hyperemia during control perfusion but only delayed it under adrenaline perfusion.

Adenosine deaminase

reactive hyperemia

Adenosine deaminase

reactive hyperemia


Input: Here we directly compare MSI in the peripheral blood leukocyte (PBL) DNA of seven HNPCC patients carrying different types of pathogenic MMR mutations in MLH1 and MSH2 genes with the PBL DNA of normal age-matched controls and of patients with sporadic colorectal cancer (SCRC).

sporadic


Input: We conclude that disease manifestation in CF is modulated by loci in the partially imprinted region 3' of CFTR that determine stature, food intake and energy homeostasis, such as the Silver-Russel-Syndrome candidate gene region and LEP.

CFTR

stature


Input: For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency.

alcohol dependency

alcohol dependency


Input: Collectively, our results provide the first demonstration that SGEF is a novel promoter of human prostate cancer progression and development.

SGEF

prostate cancer


Input: We developed a new ELISA to examine levels of LILRA3 in serum, synovial fluid, and/or culture supernatants from controls and patients with RA, degenerative arthritis, or gout.

degenerative arthritis


Input: Moreover, high levels of MTBP in human HCC tissues are correlated with cytoplasmic localization of p-Erk1/2.

MTBP

HCC

MTBP

HCC


Input: BALB/c Fech (m1Pas) mice have a mutated ferrochelatase gene resulting in protoporphyria that models the hepatic injury occurring sporadically in human erythropoietic protoporphyria.

ferrochelatase

protoporphyria

ferrochelatase

protoporphyria


Input: BCR-ABL1 kinase inhibits uracil DNA glycosylase UNG2 to enhance oxidative DNA damage and stimulate genomic instability.

BCR

genomic instability


Input: A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes.

arginine vasopressin

neurohypophyseal diabetes insipidus

arginine vasopressin

neurohypophyseal diabetes insipidus


Input: Androgen modulation of adhesion and antiadhesion molecules in PC-3 prostate cancer cells expressing androgen receptor.

androgen receptor

adhesion


Input: PRRT2 (proline-rich transmembrane protein 2 gene) has been identified as the major gene in all 3 conditions, found to be mutated in 80 to 90% of familial and 30 to 35% of sporadic cases.

proline-rich transmembrane protein 2 gene

sporadic


Input: We employed adenovirus-mediated RNA interference technique to knock down CIAPIN1 expression in HCC cells and observed its effects on HCC cell growth in vitro and in vivo.

HCC

adenovirus


Input: The function of TRIM59 was elucidated using short hairpin RNA (shRNA)-mediated knockdown of the gene in human CaP cells, which caused S-phase cell-cycle arrest and cell growth retardation.

growth retardation


Input: We examined 48 Japanese patients with schizophrenia and 32 patients with alcohol dependence to detect mutations in the retinoid X receptor beta gene (RXRB) on chromosome 6p21. 3, the NURR1 gene (NR4A2) on chromosome 2q22-q23, and the PPAR alpha gene (PPARA) on chromosome 22q12. 2-13. 1.

alpha gene

alcohol dependence


Input: The objective of this study was to assess the incidence, timing and identify pharmacogenetic, efavirenz (EFV) pharmacokinetic and biochemical predictors of EFV-based antiretroviral therapy (ART) drug-induced liver injury (DILI).

ART

drug-induced liver injury


Input: Recessive inactivating mutations in WNT1 are a new cause of OI type IV.

OI type IV

OI type IV


Input: We studied 75 astrocytic tumors with different degrees of anaplasia including juvenile pilocytic astrocytoma (JPA), low-grade astrocytoma (LGA), anaplastic astrocytoma (AA), and glioblastoma multiforme (GBM) to determine whether standard CD44 (CD44s) can be used as a clinically useful marker distinguishing between low-and high-grade gliomas.

LGA

juvenile pilocytic astrocytoma


Input: These results provide further support for the notion that the cognitive difficulties associated with depression are subtle and best detected with sensitive neurophysiological indices, such as P300.

depression


Input: Here, we report that disruption of the function of FAK scaffolding through its Pro-878/881 motif suppressed mammary tumor growth and metastasis in a well characterized murine model of human breast cancer.

FAK

mammary tumor


Input: This is the seventh mutation in the ND6 gene that causes optic neuropathy, indicating that this gene is a hot spot for LHON mutations.

LHON

LHON


Input: Our results expand the set of pathological mutations in DYNC1H1, reinforce the role of cytoplasmic dynein in disorders of neuronal migration, and provide evidence for a syndrome including spinal nerve degeneration and brain developmental problems.

nerve degeneration


Input: Thus, endothelial FGF2 is overproduced in IPH and contributes to SMC hyperplasia in IPH, identifying FGF2 as a promising target for new treatments against PH.

hyperplasia


Input: Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).


Input: In this study we showed that the motor coordination impairment observed in HCN1-/-mice is paralleled by a decline of GABA content in the cerebellum.

coordination impairment

coordination impairment


Input: Estrogen-related receptor alpha confers methotrexate resistance via attenuation of reactive oxygen species production and P53 mediated apoptosis in osteosarcoma cells.

Estrogen-related receptor alpha

osteosarcoma

Estrogen-related receptor alpha

osteosarcoma


Input: Mesenteric vein thrombosis in a patient heterozygous for factor V Leiden and G20210A prothrombin genotypes.

factor V Leiden

Mesenteric vein thrombosis

factor V Leiden

Mesenteric vein thrombosis


Input: CF heterozygotes shared the decrease of alpha 1-lipoprotein with the patients while exhibiting small but significant depressions of alpha 2-macroglobulin and IgG.

alpha 2-macroglobulin

depressions

alpha 2-macroglobulin

depressions


Input: The patient was found to be lupus anticoagulant positive and homozygous for methylenetetrahydrofolate reductase C677T mutation.

methylenetetrahydrofolate reductase

lupus anticoagulant


Input: TLR3 deficiency in patients with herpes simplex encephalitis.

herpes simplex encephalitis

herpes simplex encephalitis


Input: Thus, TNF-alpha-induced RANTES expression may have a critical role in cell-mediated liver injury associated with alcoholic hepatitis.

RANTES

alcoholic hepatitis

RANTES

alcoholic hepatitis


Input: Nurr1 protein in BA 9 was significantly lower in major depression (P & lt; 0. 05) and lower at a trend level in schizophrenia (P = 0. 056) than in the controls.

major depression

major depression


Input: Polymorphisms in dipeptidyl peptidase IV gene are associated with the risk of myocardial infarction in patients with atherosclerosis.

IV gene

myocardial infarction


Input: Common CYP2C8 and CYP2C9 polymorphisms were studied in a cross-sectional study, involving 134 NSAID-related bleeding patients and in 177 patients receiving NSAID with no adverse effects.

bleeding


Input: As ENaC activity in the kidney is regulated by the steroid hormone aldosterone acting through the mineralocorticoid receptor, we have screened the mineralocorticoid receptor gene (MLR) for variants and have identified heterozygous mutations in one sporadic and four dominant kindreds.

MLR

sporadic


Input: Inducible nitric oxide synthase-2 (NOS2) expression has been shown to be reduced in cystic fibrosis (CF) epithelial cells.

cystic fibrosis


Input: No association between NAT2 genotype and bladder cancer risk was found whether genotype was considered alone or in combination with smoking, in either stratified or logistic regression analysis that adjusted for age, sex, and race.

smoking


Input: Gene therapy and gene transfer, including site-and organ-specific targeted gene transfer have become powerful tools for studying the potential role of the 2 isoforms of HO, HO-1/HO-2, in the treatment of cardiovascular disease, as well as diabetes.

diabetes


Input: Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.

autosomal dominant macrothrombocytopenia

autosomal dominant macrothrombocytopenia


Input: The number and adhering activity of CR1 high expression genomic type gallbladder carcinomas (0. 749 +/-0. 22, 42. 1 +/-6. 2) were significantly lower than those of healthy individuals (1. 240 +/-0. 29, 63. 9 +/-7. 2), and were also significantly lower than those of healthy individuals (0. 921 +/-0. 23, 54. 8 +/-7. 1), but no difference was observed between the number and adhering activity of CR1 lower expression genomic type gallbladder carcinomas (0. 582 +/-0. 18, 44. 3 +/-5. 5) and those of healthy individuals (0. 610 +/-0. 20, 45. 8 +/-5. 7) (P > 0. 05).

carcinomas


Input: The influence of angiotensinogen genotype on blood pressure was assessed with a general linear model ANOVA with adjustment for age, sex, body mass index, and alcohol consumption.

ANOVA

alcohol consumption


Input: Protein secondary-structure prediction for the MT-ATP6 with the two M8a-specific amino acid changes further supported our inferences.

secondary


Input: We also show that this cytotoxic autophagic process represses the apoptosis program by reducing the cytosolic release of the apoptogenic factors Smac/DIABLO and cytochrome c. Altogether our findings suggest that autophagy can contribute to execution of death in mammalian cells that are exposed to mild ER stress.

cytochrome c

mild


Input: The HtrA3-L level was increased in malignant tumor tissues compared to benign tumor tissues and control tissues from patients with benign lesions, and elevated in normal tissues from patients with thyroid carcinoma compared to normal tissues from patients with benign lesions.

benign tumor


Input: Ambulatory blood pressure monitoring (ABPM): systolic blood pressure (SBP): 116 +/-1. 9 mmHg, diastolic blood pressure (DBP): 73. 7 +/-0. 9 mmHg.

DBP

systolic blood pressure


Input: Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein.

UMOD

FJHN

UMOD

FJHN


Input: Vaccination with dendritic cells transfected with mRNA-encoded folate-receptor-alpha for relapsed metastatic ovarian cancer.

folate-receptor-alpha

ovarian cancer

folate-receptor-alpha

ovarian cancer


Input: Swiss-albino rats were recruited in the study as follows; Group 1 rats subjected to simple laparotomy known as the sham group; Group 2 rats subjected to bile duct ligation (BDL); Group 3 bile duct ligated rats treated with CAPE.

CAPE

albino


Input: In Arabian children referred with retinal dystrophy, we have observed that a specific biallelic nonsense mutation in the gene encoding tubby-like protein 1 (TULP1, c. 901C > T (p. Gln301 *)) is recurrent.

retinal dystrophy


Input: In this article, the SH3BP2 gene in nonfamilial cherubism was examined.

cherubism

cherubism


Input: The intricate intracellular communication between stromal and epithelial cells, which involves cell-cell-, cell-insoluble extracellular matrix-(ECM), and cell-soluble factor-mediated signaling processes, is an attractive target for therapeutic intervention in hormone-refractory and bone-metastatic prostate cancer.

ECM

metastatic prostate cancer


Input: Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome.

Kabuki syndrome

Kabuki syndrome


Input: We found no evidence of an XRCC3 x smoking or alcohol interaction or an XRCC1 x alcohol interaction.

smoking


Input: The associated variants at the 1q21. 3 locus span a region with ten genes, and plausible candidate genes for melanoma susceptibility include ARNT and SETDB1.

melanoma

melanoma


Input: The genetic abnormalities are known to be located in three specific regions on the GDH protein.

GDH

abnormalities


Input: The novel R561C missense mutation in our patient with mild SIOD is additional evidence for the genotype-phenotype correlation reported for SMARCAL1 mutations.

mild


Input: The mRNA level of Pax2 was assessed by real-time PCR in the eutopic and ectopic endometria of 14 patients and in the endometrium from women without endometriosis (n = 20).

endometriosis

endometriosis


Input: We argue that in a society where couples have considerable autonomy relating to decisions about the fetus at least until viability, the routine restriction of PND for minor genetic abnormalities would be an unjust infringement of individual liberty.

PND

abnormalities


Input: We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation.

hyperpigmentation

hyperpigmentation


Input: REDD1 mutants that fail to bind 14-3-3 are defective in eliciting TSC2/14-3-3 dissociation and mTORC1 inhibition, while TSC2 mutants that do not bind 14-3-3 are inactive in hypoxia signaling to mTORC1.

hypoxia


Input: As a molecular marker of oxidative stress, increased COX-2 expression was noted in 17 of 18 (94%) TCCs, 4 of 4 (100%) papillomas, and 39 of 47 (83%) PN hyperplasias.

hyperplasias

hyperplasias


Input: PHOX2B, therefore, stands as the first gene for which germline mutations predispose to NB.

NB

NB


Input: Genes found to be most influential to development of the highest grade of astrocytoma, Glioblastoma multiforme were: COL4A1, EGFR, BTF3, MPP2, RAB31, CDK4, CD99, ANXA2, TOP2A, and SERBP1.

astrocytoma


Input: This study investigates whether the interaction between diuretics and alpha-adducin (ADD1) G460W or G-protein beta3-subunit (GNB3) rs2301339 polymorphism modifies the risk of myocardial infarction (MI) or stroke.

myocardial infarction


Input: We aimed to determine the NO content in the cerebrospinal fluid (CSF) and the expression of NO synthase (NOS) isoforms, that is, NOS1, NOS2, and NOS3 in the ACC in depression.

depression

depression


Input: Serum samples collected from 446 patients, including 181 with chronic active hepatitis C, 50 with autoimmune chronic hepatitis, 117 in hemodialysis, 30 asymptomatic carriers of anti-HCV and 68 with indeterminate serology (RIBA indeterminate results), as well as from 121 controls were tested with the commercial, single-step assay and with nested polymerase chain reaction.

RIBA

asymptomatic


Input: The effect of HGF on reducing excessive dermal scarring was observed by adenovirus-mediated gene transfer.

HGF

scarring


Input: We observed four families in which carrier women had normal brain magnetic resonance imaging (MRI) and mild mental retardation, with or without epilepsy.

MRI

epilepsy


Input: Our previous studies demonstrated that adenovirus-mediated overexpression of melanoma differentiation-associated gene-7 (Ad-mda7) leads to rapid induction of double-stranded RNA-dependent protein kinase (PKR) and activation of its downstream targets, resulting in apoptosis induction in human lung cancer cells.

PKR

adenovirus


Input: ' Behr syndrome' with OPA1 compound heterozygote mutations.

Behr syndrome

Behr syndrome


Input: Messenger RNA expression of Akt1, Akt3, PTEN, and PDK1 by competitive reverse transcription polymerase polymerase chain reaction; protein expression of Akt1, Akt3, PTEN, PDK1, phosphorylated Akt1 (Ser473 and Thr308), phosphorylated PDK1, and phosphorylated PTEN by Western blot; and catalytic activities of Akt1, Akt3, and PDK1 by enzymatic assays were determined in prefrontal cortex and hippocampus obtained from suicide subjects and nonpsychiatric control subjects.

PTEN

suicide


Input: The variant hepatocyte nuclear factor 1 activates the P1 promoter of the human alpha-folate receptor gene in ovarian carcinoma.

hepatocyte nuclear factor 1

ovarian carcinoma


Input: A total of 170 patients with essential hypertension (EH group) and 154 normotensive subjects (Control group) were genotyped for the cytoskeletal protein single nucleotide polymorphism G614T of the α-adducin gene by PCR-RFLP technique.

cytoskeletal protein

essential hypertension


Input: A recurrent p. M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.

keratin 9

epidermolytic palmoplantar keratoderma

keratin 9

epidermolytic palmoplantar keratoderma


Input: KIT expression may represent a potential diagnostic pitfall in the evaluation of YWHAE-NUTM2A/B endometrial stromal sarcoma presenting with pelvic/abdominal mass, particularly in situations where its uterine origin is not definitive, and thus a panel of antibodies that includes ANO1 and cyclin D1 is necessary.

endometrial stromal sarcoma


Input: In contrast, the expression of CREB-H mRNA is aberrantly reduced in hepatoma tissues and cells.

CREB-H

hepatoma


Input: Epidermal growth factor receptor (EGFR) has been recently implicated in pathological tissue remodelling and sustained remodelling processes can lead to pathological outcomes, such as cardiac hypertrophy in heart failure.

EGFR

cardiac hypertrophy


Input: The prevalence of mutant KRAS2, inactivation of TP53 and SMAD4, and aberrant DNA methylation of a seven-gene panel is similar in familial pancreatic adenocarcinomas as in sporadic pancreatic adenocarcinomas.

sporadic


Input: Here, we used MCT4 immuno-staining of human breast cancer tissue microarrays (TMAs; & gt; 180 triple-negative patients) to directly assess the prognostic value of the " Reverse Warburg Effect. "

breast cancer

breast cancer


Input: Our data suggest that mutations in C5ORF42 explain a large portion of French Canadian individuals with JBTS.

JBTS

JBTS


Input: Because dissociation of the native SOD1 dimer is required for its in vitro aggregation, we initiated an in silico screening program to find drug-like molecules that would stabilize the SOD1 dimer.

dissociation


Input: To better understand CAA mechanisms in dementia, we assessed the frontal cortex of 62 consecutive cases of Alzheimer' s disease (AD), vascular dementia (VaD), and mixed dementia (MD) using immunohistochemistry with antibodies to Abeta, smooth muscle actin and the carboxyl-terminal peptides to detect Abeta (40) and Abeta (42).

smooth muscle actin

vascular dementia


Input: We identified a novel gene, called anti-zuai-1 (AZU-1), that was abundantly expressed in non-and premalignant cells and tissues but was appreciably reduced in breast tumor cell types and in primary tumors.

premalignant


Input: Promoter-specific DNA methylation of the POMC gene was determined in peripheral blood mononuclear cells of 54 healthy female control subjects, 40 underweight patients with AN, and 21 weight-restored patients with AN using bisulfite sequencing.

POMC gene

underweight


Input: In the present study, the protein and mRNA levels of ANXA2, as well as its localization, were determined for the normal human liver, chronic hepatitis liver, and non-tumorous and tumorous portions of HCC tissues.

HCC

chronic hepatitis


Input: We have compared KLK6 expression in post-mortem brain tissue in AD, vascular dementia (VaD) and controls.

vascular dementia


Input: Intracranial calcification, white matter involvement and brain atrophy revealed on MRI, lymphocytosis and elevated levels of interferon alpha (IFN-α) in the cerebrospinal fluid (CSF) are features of both AGS and congenital viral infection.

MRI

lymphocytosis


Input: SPP1 was found to be significantly upregulated in many kinds of malignant tumors, including gliomas.

gliomas


Input: Here, we studied single-nucleotide polymorphisms (SNPs) in the pro-opiomelanocortin (POMC) gene for possible association with bone mineral density (BMD) among 384 adult Japanese women and observed significant correlation between adjusted BMD and three SNPs in the promoter region (r > 0. 14, p < 0. 01).

POMC

bone mineral density


Input: Polymerase chain reaction, single-strand conformation polymorphism and direct sequencing were used to analyze Ki-ras and p53 gene mutations in 73 sporadic colorectal adenomas: 28 LST; 22 IIa-type adenomas; and 23 polypoid adenomas.

p53 gene

sporadic


Input: For estrogen-dependent MCF-7/BUS breast cancer cells, overexpression of GRP78 inhibits estrogen starvation-induced BAX activation, mitochondrial permeability transition, and consequent apoptosis.

BAX

starvation


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

LEP

weight


Input: In mouse hindlimb ischemia model (N = 30/group), autoamputation (limb loss) occurred in 87% and 68% of the mice with saline and Ad encoding β-galactosidase (Ad-LacZ), respectively, whereas only 23% of the mice injected with Ad-F-UCP showed autoamputation after 21 days of treatment.

UCP

autoamputation


Input: Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Hunter syndrome

Hunter syndrome


Input: A male infant with methyl-B12 deficiency (cblE) presented at age 6 weeks with lethargy, staring spells, and vomiting.

cblE

vomiting


Input: Furthermore, carcinomas with elevated pY-STAT5a demonstrated lower apoptosis as measured by the TUNEL assay and the Bcl-2 to Bax ratio, and showed increased expression of the long and short isoforms of the prolactin receptor.

prolactin receptor

carcinomas

prolactin receptor

carcinomas


Input: Transmission of SDHD mutations via the maternal line can, in rare cases, result in tumorigenesis.

SDHD

tumorigenesis


Input: Compared with the NC group, paw swelling, AI, IFN-gamma, and Th1/Th2 were increased, and pulmonary function parameters, IL-4, FoxP3 were decreased significantly in the MC group (P < 0. 05 or P < 0. 01).

pulmonary function


Input: We report a 46, XY boy with a mild focal dermal hypoplasia phenotype who had both wild-type and mutated copies of the PORCN gene and was, therefore, mosaic for the mutation.

PORCN gene

mild


Input: For patients showing neonatal lactic acidosis and prolonged mild methylmalonic aciduria, MRC activities and mutations of SUCLG1 or SUCLA2 should be screened for.

MRC

methylmalonic aciduria


Input: Neurofilament light gene mutations have been linked to a subset of patients with Charcot-Marie-Tooth disease, the most common inherited motor and sensory neuropathy.

Neurofilament light

sensory neuropathy


Input: Localization of the mutations in the extracellular domain of ectodysplasin A suggested that the primary cause of EDA is a defect in communication between the cells responsible for the development of skin appendages.

ectodysplasin A

EDA

ectodysplasin A

EDA


Input: To better define the involvement of these genes in sporadic cancers, we characterized expression levels of BRCA1 and BRCA2 transcripts in cancer cell lines derived from neoplasms of the ovary, prostate, and breast and compared them with those expressed in primary cultures of normal epithelial cells established from these organs.

sporadic


Input: However, unlike health care workers, the NRL allergy phenotype was not significantly associated with promoter polymorphisms in IL13 or IL18 when comparing NRL allergic SB and BE patients with nonsensitized patients and with atopic and nonatopic controls.

atopic


Input: Among the ErbB family members, only ErbB1 expression was correlated with insulin sensitivity.

insulin sensitivity

insulin sensitivity


Input: Genetic and epigenetic analysis of CHEK2 in sporadic breast, colon, and ovarian cancers.

sporadic


Input: In this study we explored the association between genetic variations in MAP3K5 and PDE7B genes, residing on chromosome 6q23, and disease severity in β-hemoglobinopathy patients, as well as the association between these variants with response to hydroxyurea (HU) treatment.

hemoglobinopathy


Input: In summary, we demonstrate for the first time that RV inhibits Ang II-induced VSMC hypertrophy, possibly by interfering mainly with the PI (3) K/Akt and p70 (S6K) but also with the ERK 1/2 signaling pathway.

ERK 1

hypertrophy

ERK 1

hypertrophy


Input: An essential role for CCAAT/enhancer binding protein beta in bleomycin-induced pulmonary fibrosis.

CCAAT/enhancer binding protein beta

pulmonary fibrosis

CCAAT/enhancer binding protein beta

pulmonary fibrosis


Input: To examine the role of fractalkine signaling in α-syn-induced-neuroinflammation and neurodegeneration, we used an in vivo mouse model in which human α-syn is overexpressed by an adeno associated viral vector serotype 2 (AAV2) and in vitro phagocytosis and protein internalization assays with primary microglia treated with aggregated α-syn.

fractalkine

neurodegeneration


Input: Our study also suggests that the levels of DNA repair factors 53BP1, BRCA1 and RAD51 could potentially serve as biomarkers to identify laminopathies that present with genomic instability.

genomic instability


Input: Clinical association analysis revealed that the positive expression of IF1 was correlated with large tumor size, lymph node metastasis, venous infiltration and advanced TNM tumor stage in gastric cancer.

gastric cancer


Input: The discovery of mutations in the gene encoding an RNA-binding protein, TAR DNA-binding protein of 43 kD (TDP-43), in familial ALS, strongly implicated abnormalities in RNA processing in the pathogenesis of ALS, although the mechanisms whereby TDP-43 leads to neurodegeneration remain elusive.

RNA-binding protein

abnormalities


Input: In vitro, starting at 1% parasitemia, Plasmodium falciparum preferentially invaded normal (HbAA) compared to abnormal hemoglobin (HbH, AE, EE, HCS, beta-thalassemia E) red cells (HRBCs).

HCS

abnormal hemoglobin


Input: The aberrant CpG island hypermethylation of P16, MGMT, and hMLH1 genes could be found in cancer tissues with frequency of about 88. 0%, 27. 2%, and 3. 2%, respectively, and in remote normal-appearing esophageal tissues with frequency of about 36. 8%, 11. 2%, and 0. 0%, respectively.

MGMT

esophageal


Input: Here we show that mice deficient for the transcriptional cofactor four and a half LIM domains 2 (Fhl2) exhibit a dramatic decrease of bone mass in both genders.

four and a half LIM domains 2

bone mass


Input: We further found 39% reduction of plaque size in the aortic roots of Plin1 and ApoE double knockout (Plin1-/-ApoE-/-) females compared with ApoE-/-female littermates.

plaque


Input: The frequency of CYP1B1 polymorphism was significantly higher (P < 0. 001) in the group of smoking cases when compared with smoking controls.

smoking


Input: We studied a series of 120 sporadic breast carcinomas using microsatellite markers to identify LOH of BRCA1, BRCA2, p53 and PTEN.

sporadic


Input: IL13 rs20541 A allele [assuming recessive model; odds ratio (OR) = 3. 38, 95% CI: (1. 63-7. 00)] showed association with development of non-atopic hand eczema.

atopic


Input: A hepatitis B virus mutant with a new hepatocyte nuclear factor 1 binding site emerging in transplant-transmitted fulminant hepatitis B.

hepatocyte nuclear factor 1

fulminant hepatitis


Input: This study aimed to investigate the relationship between polymorphisms in ERCC2, ERCC1 and XRCC1 genes and survival of non-smoking female patients with lung adenocarcinoma.

smoking


Input: The authors conclude that PSEN1 mutations can be associated with clinical features of frontotemporal dementia.

frontotemporal dementia

frontotemporal dementia


Input: On the basis of this knowledge, we demonstrate how the loss of RASSF1A function in medulloblastoma cells might be overcome using the novel BH3-only mimetic ABT-737 in combination with chemotherapeutic agents to target the BCL-2 anti-apoptotic members.

medulloblastoma

medulloblastoma


Input: Via the miR-27a/EGFR axis, mutant p53-273H promotes a sustained EGF-induced extracellular signal-regulated kinase 1/2 activation, thereby facilitating cell proliferation and tumorigenesis.

extracellular signal-regulated kinase 1

tumorigenesis


Input: Our results suggest that mutations in FMR-1 are directly responsible for fragile X syndrome, irrespective of possible secondary effects caused by FRAXA.

fragile X syndrome

fragile X syndrome


Input: Since the identification of LRP5 as the causative gene for the osteoporosis pseudoglioma syndrome (OPPG) as well as the high bone mass (HBM) phenotype, LRP5 and the Wnt/β-catenin signaling have been extensively studied for their role in the differentiation and proliferation of osteoblasts, in the apoptosis of osteoblasts and osteocytes and in the response of bone to mechanical loading.

β-catenin

osteoporosis pseudoglioma syndrome


Input: The NCC inhibitor chlorothiazide abrogates FGF23-induced volume expansion and heart hypertrophy.

NCC

heart hypertrophy


Input: The aim of the present protocol was to study the relationship between insulin resistance and LPL in adipose tissue and in plasma, in the particular context of the postprandial period.

LPL

insulin resistance


Input: We compared the prevalence of GSTT1 and GSTM1 deletion genotypes in 108 Arab patients with optic neuritis (ON, 26 patients), LHON-like optic neuropathy (LLON, 35 patients), sporadic bilateral optic neuropathy in children (SBON, 21 patients) and non-arteritic ischaemic optic neuropathy (NAION, 26 patients) to 120 ethnicity-matched controls.

optic neuropathy


Input: Isoforms of MAP1S have been implicated in microtubule dynamics and mitotic abnormalities and mitotic cell death.

abnormalities


Input: Chromosome analysis of the bone marrow showed 49, XX, der (1; 7) (q10; p10), + 8, + 19, + 21 in therapy-related myelodysplastic syndrome with additional chromosomes 8, and 12 and two additional chromosomes 21 in acute leukemia.

therapy-related myelodysplastic syndrome


Input: Hamartomas created a new compartment that concentrated TCDD up to 10-fold compared with serum and strongly expressed the TCDD-metabolizing enzyme cytochrome P450 1A1, thus representing a potentially significant source of enzymatic activity, which may add to the xenobiotic metabolism potential of the classical organs such as the liver.

cytochrome P450 1A1

Hamartomas

cytochrome P450 1A1

Hamartomas


Input: Mutations in the phosphatase and tensin homologue (PTEN)/phosphatidylinositol-3 kinase-alpha (PI3K) signaling pathway are frequently found in human cancer.

tensin

cancer


Input: Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

primary ciliary dyskinesia

primary ciliary dyskinesia


Input: We studied the localization and maturation of the CLN5 carrying the previously uncharacterized vLINCL disease causing mutations in HeLa cells.

vLINCL

vLINCL


Input: Small interfering RNA designed to silence the CNT3 and ENT2 genes down-regulated the expression of these genes in leukemia cells.

leukemia


Input: We demonstrate that in hypoxic conditions PML acts as a negative regulator of the synthesis rate of hypoxia-inducible factor 1alpha (HIF-1alpha) by repressing mammalian target of rapamycin (mTOR).

mammalian target of rapamycin

hypoxic


Input: Pulmonary surfactant protein A and surfactant lipids upregulate IRAK-M, a negative regulator of TLR-mediated inflammation in human macrophages.

IRAK-M

inflammation


Input: Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

demyelination


Input: Higher values of IL-6 were recorded in those with idiopathic osteoporosis than in controls (2. 79 vs. 1. 43; p < 0. 05).

idiopathic osteoporosis


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

depression

depression


Input: Sequence analysis of the BMP4 promoter revealed two Ets-1 binding sites, and Ets-1 activity was increased in HCC cells under hypoxic conditions.

hypoxic


Input: Mechanistically, in cultured VSMC, Atox1 depletion with siRNA inhibits platelet-derived growth factor-induced Cu-dependent VSMC migration by preventing translocation of ATP7A and small G protein Rac1 to the leading edge, as well as Cu-and Rac1-dependent lamellipodia formation.

translocation


Input: Rapid N-acetyltransferase 2 imputed phenotype and smoking may increase risk of colorectal cancer in women (Netherlands).

N-acetyltransferase 2

smoking


Input: In normal subjects PMN activation with both activators led to a constant increase of all PMN adhesion molecules; in DVT subjects CD11b, CD11c and CD18 increased, while CD11a expression did not show any change.

adhesion


Input: These results suggest that the Ala variant of SOD2 is associated with moderately increased risk of prostate cancer, particularly among men with lower intakes of dietary and supplemental vitamin E.

prostate cancer

prostate cancer


Input: Gastric cancer cells transfected with pCDNA-SPRY4-IT1 were injected into nude mice to study the effect of SPRY4-IT1 on tumorigenesis and metastasis in vivo.

tumorigenesis


Input: Our data suggest that 1) the generation of DRRs is critical for driving the release of neuropeptides antidromically from primary afferent nociceptors; 2) activation of TRPV1 receptors in primary afferent nociceptors following intradermal capsaicin injection initiates this process; 3) the released CGRP and SP participate in neurogenic inflammation.

SP

neurogenic inflammation

SP

neurogenic inflammation


Input: Cyclin E and cyclin D1 immunohistochemical expression was studied in tissue microarrays consisting of 53 BRCA1, 58 BRCA2, 798 familial non-BRCA1/2, and 439 sporadic breast tumors.

sporadic


Input: This missense mutation of FTL represents a new cause of genetic hyperferritinemia without iron overload.

FTL

genetic hyperferritinemia without iron overload

FTL

genetic hyperferritinemia without iron overload


Input: In contrast to the accelerated aging defects observed in HGPS cells, the progeroid phenotype resulting from increased expression of wild-type lamin A can be rescued by overexpression of ZMPSTE24, the metalloproteinase responsible for the removal of the farnesylated carboxyl terminal region of lamin A.

lamin A

aging


Input: The persistent relaxant and biochemical effects of (-)-adrenaline through beta2-adrenoceptors and of (-)-noradrenaline through beta1-adrenoceptors in heart failure are inconsistent with an important role of coupling of beta2-adrenoceptors with Gialpha-protein in human atrial myocardium.

heart failure


Input: Meanwhile, microsomal CYP isoenzymatic levels and P-gp expression in small intestines were compared between normal and hepatic fibrosis rats.

P-gp

hepatic fibrosis


Input: Previously, we reported the association of rs659822-C/T in LAMA5, encoding the laminin-α5 chain, with weight and height in a cohort of healthy 64-107 aged Italian individuals.

height


Input: DD polymorphism of the ACE gene is a significant risk factor in low-grade reflux patients with renal scarring.

ACE gene

reflux


Input: qRT-PCR showed that the expression of UHRF1 mRNA in LSCC tissues was significantly higher than that in adjacent normal larynx tissues (P < 0. 001).

larynx


Input: In the unaffected individuals (patients' relatives and healthy controls) we observed an association of KIBRA with immediate and delayed logical memory (p = 0. 020 and 0. 025, respectively), while in patients with psychosis with delayed visual memory (p = 0. 05).

KIBRA

psychosis

KIBRA

psychosis


Input: In this study, we found increased expression of miR-21 in distal small arteries in the lungs of hypoxia-exposed mice.

hypoxia


Input: New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

aspartoacylase

Canavan disease

aspartoacylase

Canavan disease


Input: Inactivation of the two principal MMR genes, hMLH1 and hMSH2, and the PTEN tumor suppressor gene seems to be involved in endometrial tumorigenesis.

MMR

tumorigenesis


Input: Upon serum starvation, cell proliferation was almost abolished when the expression level of MARCKS was high, whereas it was only partially reduced in the controls.

MARCKS

starvation


Input: These data identify the causal role of leukocytes in the pathogenesis of diabetic retinopathy and establish the potential utility of ICAM-1 inhibition as a therapeutic strategy for the prevention of diabetic retinopathy.

diabetic retinopathy

diabetic retinopathy


Input: These data along with new data from computational models, genetic mouse models, and human studies have revealed a direct role for MLC-2v phosphorylation in cross-bridge cycling kinetics, calcium-dependent cardiac muscle contraction, cardiac torsion, cardiac function and various cardiac diseases.

MLC

cardiac diseases


Input: Polymorphic UGT1A regulation was confirmed in adenocarcinoma samples with the additional observation of differential down-regulation of UGT1A1, UGT1A3, UGT1A6, and UGT1A10 and up-regulation of UGT1A7 mRNA.

adenocarcinoma


Input: The presence of a SP1/SP3-binding element in the PR1 position is absolutely required for mild hypoxia-induced activity, and it significantly up-regulates the true hypoxic induction.

hypoxic


Input: In particular, lichen sclerosis was characterized by over expression of bone morphogenetic protein 2 and its corresponding receptor, matrix metalloproteinases 1 and 9 and tissue inhibitor of metalloproteinases 1, cytokine chemokine ligands 5 (RANTES) and interleukin 4, and transforming growth factor-β2 and its corresponding receptor.

RANTES

lichen sclerosis


Input: The LPL gene S447X mutation and H-X haplotype were significantly associated with dyslipidemia (OR = 0. 547, 95% CI: 0. 348-0. 859 for S447X mutation; OR = 0. 537, 95% CI: 0. 328-0. 880 for H-X haplotype) in male, both by themselves and after adjustment for age, body mass index, smoking, alcohol intake, systolic blood pressure, diastolic blood pressure, education and serum glucose.

LPL gene

diastolic blood pressure


Input: DR3 + mice experienced a dramatic reduction in the extent and severity of demyelination compared with DR3-littermate controls, whereas anti-TMEV antibody titers, delayed-type hypersensitivity responses, and levels of infectious virus, virus antigen, and virus RNA were similar in both groups.

hypersensitivity


Input: Permutation analysis of multivariate classification functions established that the gene-expression profiles of tumors with BRCA1 mutations, tumors with BRCA2 mutations, and sporadic tumors differed significantly from each other.

sporadic


Input: Checkpoint kinase 2 (CHEK2, Chk2) emerges as an important signal transducer of cellular responses to DNA damage and a candidate tumor suppressor whose defects contribute to molecular pathogenesis of diverse types of human malignancies, both sporadic and hereditary.

sporadic


Input: A statistically significant effect was seen for SULT1A2 genotype on a 24DNT Hb-adduct; GSTP1 genotype on a 2, 4, 6-trinitrotoluene Hb-adduct; and SULT1A1, SULT1A2, NAT1, GSTT1, and GSTP1 genotypes on chromosomal aberrations in the exposed workers.

chromosomal aberrations

chromosomal aberrations


Input: A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

Opitz-Kaveggia syndrome

Opitz-Kaveggia syndrome


Input: 22 cases had CD4 < 50/mmc, among which 14 had undetectable CMV viraemia.

viraemia


Input: Phosphorylation of Prx1 (Ser-32) by TOPK prevents UVB-induced apoptosis in RPMI7951 melanoma cells through regulation of Prx1 peroxidase activity and blockade of intracellular H (2) O (2) accumulation.

melanoma


Input: To verify the existence of an overexpression of DNMT-3a and DNMT-3b in the brain of schizophrenia patients (SZP), we compared their mRNA expression in Brodmann' s area 10 (BA10) and in the caudate nucleus and putamen obtained from the Harvard Brain Tissue Resource Center (Belmont, MA) from both nonpsychiatric subjects (NPS) and SZP.

SZP

schizophrenia


Input: CD11c (iC3bR) acts as the main subunit of a heterodimer binding to fragment Bb in the apoptosis pathway, and the factor B-derived fragment Bb was found to possess the previously unknown function of inducing apoptosis in leukemic cells through a suicide mechanism of myeloid lineage cells during the differentiation stage.

factor B

suicide


Input: In skin tumors but not normal skin, SIRT2 deletion up-regulates the stem cell marker CD34 and increases the number of Ki67-positive cells.

skin tumors


Input: Although the function of TTL is yet to be elucidated, our findings will provide another insight into the molecular pathogenesis of leukemia having ETV6-involving translocations.

TTL

leukemia


Input: Apoptin, a protein from chicken anemia virus (CAV) has the ability to specifically induce apoptosis only in carcinoma cells.

CAV

carcinoma


Input: The association of retinol binding protein-4 (RBP4) with incident type 2 diabetes (T2DM) in Asian Indian middle-aged men with impaired glucose tolerance (IGT) was studied.

impaired glucose tolerance


Input: Kp-10 caused a dose-dependent increase in oedema formation (0. 3-10 nmol/injection site), assessed by Evans Blue albumin dye extravasation, in the dorsal skin of CD1 mice.

oedema


Input: We showed that heparanase up-regulated the expression of the blood coagulation initiator-tissue factor (TF) and interacted with the tissue factor pathway inhibitor (TFPI) on the cell surface membrane of endothelial and tumor cells, leading to dissociation of TFPI and resulting in increased cell surface coagulation activity.

heparanase

dissociation


Input: When expressed in colon cancer cells, in which ASC is absent due to methylation, ASC was found to enhance the chemosensitivity in a p53-dependent manner.

ASC

colon cancer


Input: In this study, we examined pleural and ascitic effusions with a combined approach using IHC and FISH on the same cells, under the following aspects: (1) frequency of Her2/neu protein expression and gene amplification in effusions; (2) correlation between score of protein expression and gene amplification; (3) impact of chromosome 17 polyploidy on Her2/neu protein expression.

FISH

polyploidy


Input: In carriers, significant correlations between FVIII and APTT, VWF antigen and activity were found, whereas BMI, hs-CRP or fibrinogen did not correlate with FVIII.

FVIII

fibrinogen


Input: These results suggest that an increase in the multichaperone complex, especially the HSF1-HSP90 interaction, associated with attenuation of HSF1 translocation into the nucleus, was involved in the impairment of HS-induced HSP72 induction in the failing heart following MI.

translocation


Input: We examined the functional consequences of the Q110 IL-13 variant in vitro and in vivo to determine whether it displays enhanced functional activity compared with R110 IL-13, both in the context of I50Q551 IL-4R alpha and of the atopy-associated variant V50R551 IL-4R alpha.

atopy


Input: In two families, one with mild PSACH and the second with a form of MED, we identified different substitutions for a residue in the carboxyl-terminal globular region of COMP.

COMP

mild


Input: Moreover, shRNA-mediated knockdown of endogenous TDAG8 in NCI-H460 human non-small cell lung cancer cells reduced cell survival in an acidic environment in vitro as well as tumor development in vivo.

non-small cell lung cancer


Input: In metastatic animal models, cancer cells from subcutaneous tumors, malignant ascites, and peritoneal tumors responded to IFN-γ.

IFN

malignant ascites


Input: In rats with genetic hypertension, there is some recent evidence pointing to linkage of renin gene alleles with blood pressure.

renin gene

blood pressure


Input: A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.

campomelic dysplasia

campomelic dysplasia


Input: Specifically, single nucleotide polymorphisms (SNPs) in two genes critical for T-cell function are associated with susceptibility to MDD: PSMB4 (proteasome beta4 subunit), important for antigen processing, and TBX21 (T bet), critical for differentiation.

MDD

MDD


Input: EGFR and MYC gene copy number aberrations are more common in squamous cell carcinoma than keratoacanthoma: a FISH study.

FISH

squamous cell carcinoma


Input: In contrast, macaques inoculated with SHIV (DH12R-Clone 8) experience only partial and transient losses of CD4 + T cells, show prompt control of their viremia, and remain healthy for periods of time extending for up to 4 years.

viremia


Input: The mutations identified were E43D, in patients with Rosenberg-Chutorian syndrome, and M115T, in the Korean patients with CMTX5.

Rosenberg-Chutorian syndrome

Rosenberg-Chutorian syndrome


Input: An increase in the CD28 mRNA expression was accompanied by a decrease in the CTLA-4 mRNA expression in decidual tissues from human miscarriage.

miscarriage


Input: B cells have arisen as a possible player in tissue fibrosis in some experimental models and, since IL-6 produced by B cells, along with TGF-β, may induce matrix synthesis and less collagen degradation, targeting B cells could be one way to reduce ECM deposition and reduce the inflammatory background.

ECM

fibrosis


Input: In the present study, we show induction of AP-1 in carcinogen-induced mouse lung tumors compared with surrounding normal lung tissue.

lung tumors

lung tumors


Input: Patients carrying ED or DD genotype had a less systolic blood pressure reduction (adjusted beta =-3. 7 + or-1. 1, P < 0. 001), a less diastolic blood pressure reduction (adjusted beta =-3. 1 + or-0. 8, P < 0. 001) and a lower percentage of reaching target blood pressure defined as SBP lower than 140 mmHg and DBP lower than 90 mmHg (adjusted OR = 0. 6, P = 0. 005) than those patients carrying EE genotype.

DBP

systolic blood pressure


Input: Here we utilized the adenovirus expression system to deliver PTTG1 into normal human fibroblasts to evaluate the role of PTTG1 in tumorigenesis.

adenovirus


Input: We examined the risk of incident colorectal cancer according to NAT2 genotypes, meat intake and smoking in a prospective, nested case-control study among 32, 826 women enrolled in the Nurses' Health Study who provided prediagnostic blood specimens.

smoking


Input: By overexpressing the Wnt receptor, FZD-7, in colon cancer cells, we found that FZD-7 receptors expressed N-linked β (1, 6) branching, indicating that FZD-7 can be modified by GnT-V.

GnT-V

colon cancer


Input: They were evaluated for heritable thrombophilia (factor V Leiden and factor II G20210A mutations, protein S, protein C, and antithrombin deficiency), hyperhomocystinemia, lupus anticoagulant, and anticardiolipin antibodies.

factor II

hyperhomocystinemia


Input: Total homocysteine (tHcy), folate, cobalamin, apo-transcobalamin (apo-TC) and apo-haptocorrin (apo-HC) were measured in the amniotic fluid of 82 women who were pregnant with a child having a complex birth defect, such as neural tube defect, cleft lip and/or palate, heart defect or omphalocele, and in 110 women pregnant with a non-malformed child.

haptocorrin

heart defect


Input: A human laterality disorder associated with recessive CCDC11 mutation.

laterality


Input: Expression of the key ER stress-associated genes, including glucose-regulated protein 78 (Grp78), protein disulfide isomerase (PDI), and heat shock proteins (HSP25, HSP40, HSP70), were also suppressed by CeO2 nanoparticles.

shock


Input: Analysis of cDNA microarrays revealed that CREB silencing leads to increased expression of cysteine-rich protein 61 (CCN1/CYR61) known to mediate adhesion, chemostasis, survival, and angiogenesis.

adhesion


Input: Furthermore, the frequencies of the G allele of IL-17A-197 G/A and TGFR-β2-875 A/G in BAVM patients with hemorrhage were higher than those without hemorrhage.

hemorrhage


Input: Previously, a candidate gene linkage approach on brother pairs affected with prostate cancer identified a locus of prostate cancer susceptibility at D3S1234 within the fragile histidine triad gene (FHIT), a tumor suppressor that induces apoptosis.

FHIT

prostate cancer susceptibility


Input: SEMA3F loss was associated with changes in cell signaling: increased phospho-AKT in normoxia and increase of hypoxia-induced factor 1alpha protein in hypoxia.

hypoxia


Input: StuI polymorphism on the androgen receptor gene is associated with recurrent spontaneous abortion.

androgen receptor gene

recurrent spontaneous abortion


Input: The significant correlations between the CYP2D6 polymorphisms and the weight gain/BMI (body mass index) increase, as major side effects induced by antipsychotics proved the fact that the pharmacogenetic screening is needed in the future clinical practice, allowing for individualized, tailored treatment, especially for at-risk individuals.

body mass index


Input: A Northern blot study was also conducted with two acute lymphocytic leukemia cases and one lymphoblastic lymphoma case with CD7 +, CD2-/+/-, CD5-/+/-phenotype and germline T cell receptor beta genes.

lymphoblastic lymphoma


Input: The expression of the inducible form of nitric oxide synthase (NOS2) is reduced in cystic fibrosis (CF) epithelium despite the presence of aggressive inflammation.

cystic fibrosis


Input: As a striking example, mutations in the gene coding for antiquitin, an evolutionary old aldehyde dehydrogenase, result in pyridoxine-dependent seizures, owing to the accumulation of a metabolic intermediate that inactivates PLP.

PLP

pyridoxine-dependent seizures


Input: Infection of PC-3 and DU-145, the human prostate tumor cells, with Ad. dcn or a non-replicating adenovirus Ad (E1-). dcn resulted in decorin expression; Ad. dcn produced high viral titers and cytotoxicity in human prostate tumor cells.

adenovirus


Input: We have shown that cytotoxic T lymphocytes specific for PR1, an HLA-A2-restricted nonopeptide derived from proteinase 3, kill leukemia cells and may contribute to the elimination of chronic myelogenous leukemia (CML) after treatment with IFN or allogeneic bone marrow transplant.

chronic myelogenous leukemia


Input: Last, the in vivo silencing efficacy of SAMiRNAs was evaluated by targeting amphiregulin and connective tissue growth factor in bleomycin or TGF-& #946; transgenic animal models of pulmonary fibrosis.

connective tissue growth factor

pulmonary fibrosis

connective tissue growth factor

pulmonary fibrosis


Input: Previously this laboratory found that cyclin E is overexpressed and present in lower-molecular-weight (LMW) isoforms in breast cancer cells and tumor tissues compared to normal cells and tissues.

cyclin E

weight


Input: We phenotyped Pet-1 KO mice for fear conditioning and extinction, and on a battery of assays for anxiety-and depression-related behaviors.

depression

depression


Input: In 205 Japanese patients with BrS or IVF who tested negative for SCN5A mutation, we conducted a genetic screen for KCNE5 variants.

BrS

BrS


Input: We analyzed the changes in neurological severity scores, infarct volume, number of apoptotic neurons, and the expression of G-CSF receptor, phosphorylated signal transducer and activator of transcription 3 (pSTAT3), cellular inhibitor of apoptosis protein 2 (cIAP2), Bcl-2, and Bax in the brain tissue.

signal transducer and activator of transcription 3

infarct


Input: Most importantly, influenza-A-virus-induced DNA binding of IRF1, IRF3, IRF7 and NF-kappaB onto CXCL10 ISRE and NF-kappaB elements, respectively, was markedly enhanced in cytokine-pretreated cells.

influenza


Input: with both the normalization of vaginal flora (vaginal infection disappearance) and the decrease in IL-6 cervicovaginal fluid levels in women at risk of preterm delivery.

vaginal infection


Input: Moreover, suppression of STAP-2 in K562 CML cells resulted in no tumor formation in mice.

tumor


Input: Using an adenovirus transfer vector to achieve high efficiency 23-kDa and 16-kDa PRL transfection in DU145 and PC-3 human prostate carcinoma cell lines, we demonstrated that expression of 16-kDa PRL in the prostate cancer cells markedly reduced their ability to form tumors in a xenograft animal model.

adenovirus


Input: One deletion in NRXN1 and one deletion in CNTNAP2 occurred de novo, in another family the deletion was also identified in the mother who had learning difficulties, and in all other tested families one parent was shown to be healthy carrier of the respective deletion or mutation.

learning difficulties


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: The other four genes are transactive response-DNA binding protein-43 (TARDBP), fused in sarcoma (FUS), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B).

VCP

sarcoma


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

major depression

major depression


Input: Acute colitis was induced by 3. 5% dextran sulfate sodium (DSS) in drinking water for 5days and levels of cytokines and mRNA expression of TACE, TIMP-3 and SIRT-1 were measured in colon at different time intervals.

colitis

colitis


Input: The Trp64Arg polymorphism of beta (3)-adrenergic receptor (ADRB3) has been reported to be associated with insulin resistance and gestational diabetes mellitus (GDM).

insulin resistance


Input: Combined use of the CD4/CD8 ratio (> 2. 5) and the CD103/CD4 ratio (< 0. 31) to assess bronchoalveolar lavage lymphocytes is a promising new tool for the diagnosis of sarcoidosis.

sarcoidosis


Input: We report a comparative analysis of the connections among 5-HT2CR editing, genome-wide gene expression and DNA methylation in suicide victims, individuals with major depressive disorder and non-psychiatric controls.

major depressive disorder

major depressive disorder


Input: Using a wt-p53 recombinant adenovirus (Ad-p53), we demonstrated that exogenous wt-p53 expression was able to increase the sensitivity to BCNU in ADF cells.

ADF

adenovirus


Input: We undertook direct automated DNA sequencing of the S4 regions of CACNA1S and SCN4A in 83 cases of hypokalemic periodic paralysis.

hypokalemic periodic paralysis

hypokalemic periodic paralysis


Input: Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis.

Ehlers-Danlos syndrome type IV

Ehlers-Danlos syndrome type IV


Input: It is interesting that, although the mutation site (Q90E) in this GACR patient' s OAT was within the coding sequence of the mature protein, the precursor exhibited loss of mitochondrial targeting function.

OAT

GACR

OAT

GACR


Input: The many lives of CTIP2: from AIDS to cancer and cardiac hypertrophy.

cardiac hypertrophy


Input: Increasing numbers of individuals with cystic fibrosis are becoming infected with the multidrug-resistant non-tuberculous mycobacterium (NTM) Mycobacterium abscessus, which causes progressive lung damage and is extremely challenging to treat.

NTM

cystic fibrosis


Input: The phenotype in patients with mutations in both EDAR alleles was comparable to males with X-linked HED.

EDAR

HED

EDAR

HED


Input: Experiments examining thalidomide' s enantiomers reveal-that the S (-)-enantiomer has the strongest antiangiogenic activity in VEGF-induced and bFGF-induced corneal neovascularization.

bFGF

corneal neovascularization

bFGF

corneal neovascularization


Input: In summary, we establish POLE as a second gene in which mutations cause IMAGe syndrome.

POLE

IMAGe syndrome

POLE

IMAGe syndrome


Input: Collectively, these observations provide new evidence demonstrating that human ASM endogenously expresses both TH1-and TH2-type cytokines and their receptors, that these molecules are sequentially upregulated in the atopic asthmatic sensitized state, and that they act to downregulate and upregulate proasthmatic perturbations in ASM responsiveness, respectively.

atopic


Input: Nicotinic acid receptor abnormalities in human skin cancer: implications for a role in epidermal differentiation.

Nicotinic acid receptor

skin cancer

Nicotinic acid receptor

skin cancer


Input: The present findings are consistent with the view that PTHrP can be generated in myeloma cells in vivo, and could contribute to osteolysis and hypercalcaemia, as in patients with cancer.

PTHrP

osteolysis

PTHrP

osteolysis


Input: Treatment of human astrocytoma U87 cells with silicon dioxide nanoparticles lowers their survival and alters their expression of mitochondrial and cell signaling proteins.

astrocytoma


Input: Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

autosomal recessive distal renal tubular acidosis

autosomal recessive distal renal tubular acidosis


Input: Importantly, L1-CAM expression in patients with ccRCC was associated with significantly shorter patient survival time.

ccRCC

ccRCC


Input: Q (2) ChIP of the transcription factor Oct4 demonstrates its dissociation from the NANOG promoter upon differentiation.

NANOG

dissociation


Input: The HHLs had significantly higher systolic blood pressure (SBP), diastolic blood pressure (DBP) (P < 0. 0001), body mass index (BMI) (P = 0. 0002), plasma aldosterone levels (P = 0. 03) and aldosterone to plasma renin ratio (ARR) (P < 0. 0001) and lower plasma renin activity (PRA) (P = 0. 007).

DBP

systolic blood pressure


Input: Using the in silico data mining approach, we identified elevated expression of five genes located at the 12q24. 31 amplicon in neuroblastoma (DIABLO, ZCCHC8, RSRC2, KNTC1 and MPHOSPH9).

neuroblastoma


Input: One of the rare CNVs found in SZ cohorts is the duplication of Synaptic Scaffolding Molecule (S-SCAM, also called MAGI-2), which encodes a postsynaptic scaffolding protein controlling synaptic AMPA receptor levels, and thus the strength of excitatory synaptic transmission.

SZ

SZ


Input: This study was designed to investigate the effects of bezafibrate as a PPARalpha agonist on human embryo rhabdomyosarcoma (RD) cells and possible mechanisms responsible for bezafibrate-mediated myopathy.

PPARalpha

myopathy

PPARalpha

myopathy


Input: The risk conferred by 1858T allele on GAD positivity was additive, and our meta-analysis also supported an additive rather than dominant effect of this variant on type 1 diabetes, similar to previous reports on rheumatoid arthritis and systemic lupus erythematosus.

GAD

rheumatoid arthritis


Input: Transfection of precursor miR-199a-3p into ovarian cancer cells reduced c-Met expression and inhibited the phosphorylation of c-Met, extracellular signal-regulated kinase, and AKT; in addition, proliferation, adhesion, and invasiveness were inhibited.

AKT

adhesion


Input: On the basis of this knowledge, we demonstrate how the loss of RASSF1A function in medulloblastoma cells might be overcome using the novel BH3-only mimetic ABT-737 in combination with chemotherapeutic agents to target the BCL-2 anti-apoptotic members.

medulloblastoma

medulloblastoma


Input: Taken together, our data indicate that hnRNPC controls the aggressiveness of GBM cells through the regulation of PDCD4, underscoring the potential usefulness of hnRNPC as a prognostic and therapeutic marker of GBM.

aggressiveness


Input: Two HLA supratypes seem to mark different age of onset of vitiligo: HLA-BfS, C4A3, C4B1, DR5 (W11), DQW3 is characteristic of the pediatric form; while HLA-BfS, C4A3, C4B1, DR7, DQW2 marks the adult form of disease.

vitiligo


Input: Mutations of the EVER1 and EVER2 genes cause epidermodysplasia verruciformis (EV), a genodermatosis associated with squamous cell carcinoma (SCC).

genodermatosis


Input: Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly.

PBGD

AIP

PBGD

AIP


Input: We found increased expression of HIF-1 & #945; and HIF-1 & #946; mRNA, as well as the target genes, VEGF, and PFKFB3 in both MDD and BPD patients in a depressive state compared to healthy control subjects.

MDD

MDD


Input: Expression of podoplanin is a rare event in sporadic gastrointestinal stromal tumors and does not influence prognosis.

podoplanin

sporadic


Input: Asic3 (-/-) mice showed normal baseline heart rate and lower blood pressure as compared with their wild-type littermates.

heart rate


Input: No association was found with the two SNPs (rs4282438 or rs9277952) that were recently identified within the HLA-DP region in a cervical cancer GWAS in the Chinese population.

HLA-DP

cervical cancer


Input: Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.

campomelic dysplasia

campomelic dysplasia


Input: However, functional assays of non-neoplastic patient-derived cells showed intact base-base MMR function.

MMR

non-neoplastic


Input: Stimulation of 5-HT2C receptors improves cognitive deficits induced by human tryptophan hydroxylase 2 loss of function mutation.

tryptophan hydroxylase 2

cognitive deficits


Input: Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

Farber disease

Farber disease


Input: Most researchers believe that the peroxisome proliferative activated receptor gamma (PPARgamma-2) and bone morphogenetic protein receptor type II (BMPR2) play important roles in steroid-induced osteonecrosis (ON).

osteonecrosis


Input: Liver X receptor-α (LXRA) is a nuclear receptor that regulates genes important in cholesterol homeostasis and inflammation.

LXRA

inflammation


Input: We also noticed greater expression of LEP and LEPR in T1DM pregnancies with large for gestational age (LGA) and appropriate for gestational age (AGA) fetuses in comparison to small for gestational age (SGA) diabetic fetuses and controls.

LEPR

small for gestational age